UniProtKB - P10275 (ANDR_HUMAN)
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>sp|P10275|ANDR_HUMAN Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=3 MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQ QQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQ SALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSAD LKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELC KAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAG KSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQ SRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAA GPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAP YGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRL ETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRN DCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKL TVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWA KALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELD RIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEII SVQVPKILSGKVKPIYFHTQHelp videoAdd a publicationFeedback
Protein
Androgen receptor
Gene
AR
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.9 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.34"The retinoblastoma protein-associated transcription repressor RBaK interacts with the androgen receptor and enhances its transcriptional activity."
Hofman K., Swinnen J.V., Claessens F., Verhoeven G., Heyns W.
J. Mol. Endocrinol. 31:583-596(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH RBAK. - Ref.47"ZIP kinase plays a crucial role in androgen receptor-mediated transcription."
Leister P., Felten A., Chasan A.I., Scheidtmann K.H.
Oncogene 27:3292-3300(2008) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH ZIPK/DAPK3. - Ref.49"Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination."
Xu K., Shimelis H., Linn D.E., Jiang R., Yang X., Sun F., Guo Z., Chen H., Li W., Chen H., Kong X., Melamed J., Fang S., Xiao Z., Veenstra T.D., Qiu Y.
Cancer Cell 15:270-282(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, POLYUBIQUITINATION AT LYS-846 AND LYS-848 BY RNF6, MUTAGENESIS OF LYS-846 AND LYS-848, INTERACTION WITH RNF14 AND RNF6, SUBCELLULAR LOCATION. - Ref.50"CDK9 regulates AR promoter selectivity and cell growth through serine 81 phosphorylation."
Gordon V., Bhadel S., Wunderlich W., Zhang J., Ficarro S.B., Mollah S.A., Shabanowitz J., Hunt D.F., Xenarios I., Hahn W.C., Conaway M., Carey M.F., Gioeli D.
Mol. Endocrinol. 24:2267-2280(2010) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION IN AR KINASE, PHOSPHORYLATION AT SER-83 BY CDK9, MUTAGENESIS OF SER-83, INTERACTION WITH CDK9. - Ref.64"The molecular mechanisms of coactivator utilization in ligand-dependent transactivation by the androgen receptor."
Estebanez-Perpina E., Moore J.M.R., Mar E., Delgado-Rodrigues E., Nguyen P., Baxter J.D., Buehrer B.M., Webb P., Fletterick R.J., Guy R.K.
J. Biol. Chem. 280:8060-8068(2005) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.66 ANGSTROMS) OF 670-920 IN COMPLEXES WITH DIHYDROTESTOSTERONE AND NCOA1; NCOA2; NCOA3 AND NCOA4, FUNCTION, INTERACTION WITH NCOA1; NCOA2; NCOA3 AND NCOA4, MUTAGENESIS OF LYS-721 AND GLU-898. - Ref.69"Modulation of androgen receptor activation function 2 by testosterone and dihydrotestosterone."
Askew E.B., Gampe R.T. Jr., Stanley T.B., Faggart J.L., Wilson E.M.
J. Biol. Chem. 282:25801-25816(2007) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 663-919 OF WILD-TYPE AND MUTANT TYR-875 IN COMPLEX WITH TESTOSTERONE AND NCOA2, ACTIVATION BY THE N-TERMINAL MODULATING DOMAIN, INTERACTION WITH NCOA2 AND MAGEA11, FUNCTION, MUTAGENESIS OF LYS-721 AND GLU-898, CHARACTERIZATION OF VARIANT PROSTATE CANCER TYR-875. - Ref.71"A surface on the androgen receptor that allosterically regulates coactivator binding."
Estebanez-Perpina E., Arnold L.A., Nguyen P., Rodrigues E.D., Mar E., Bateman R., Pallai P., Shokat K.M., Baxter J.D., Guy R.K., Webb P., Fletterick R.J.
Proc. Natl. Acad. Sci. U.S.A. 104:16074-16079(2007) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.76 ANGSTROMS) OF 670-920 IN COMPLEXES WITH SYNTHETIC LIGANDS, FUNCTION, INTERACTION WITH NCOA2. - Ref.72"Identification of a new androgen receptor (AR) co-regulator BUD31 and related peptides to suppress wild-type and mutated AR-mediated prostate cancer growth via peptide screening and X-ray structure analysis."
Hsu C.L., Liu J.S., Wu P.L., Guan H.H., Chen Y.L., Lin A.C., Ting H.J., Pang S.T., Yeh S.D., Ma W.L., Chen C.J., Wu W.G., Chang C.
Mol. Oncol. 8:1575-1587(2014) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.42 ANGSTROMS) OF 671-920 OF WILD-TYPE AND VARIANT PROSTATE CANCER ALA-878 IN COMPLEX WITH DIHYDROTESTOSTERONE AND BUD31 PEPTIDES, INTERACTION WITH BUD31, FUNCTION, SUBCELLULAR LOCATION, DOMAIN.
Isoform 3 and isoform 4 lack the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.1 Publication
Manual assertion based on experiment ini
- Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3).
Miscellaneous
In the absence of ligand, steroid hormone receptors are thought to be weakly associated with nuclear components; hormone binding greatly increases receptor affinity. The hormone-receptor complex appears to recognize discrete DNA sequences upstream of transcriptional start sites.
Transcriptional activity is enhanced by binding to RANBP9.
The level of tyrosine phosphorylation may serve as a diagnostic tool to predict patient outcome in response to hormone-ablation therapy. Inhibition of tyrosine phosphorylation may be an effective intervention target for hormone-refractory prostate cancer.
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi
AIM-100 (4-amino-5,6-biaryl-furo[2,3-d]pyrimidine) suppresses TNK2-mediated phosphorylation at Tyr-269. Inhibits the binding of the Tyr-269 phosphorylated form to androgen-responsive enhancers (AREs) and its transcriptional activity.1 Publication
Manual assertion based on experiment ini
- Ref.52"Effect of Ack1 tyrosine kinase inhibitor on ligand-independent androgen receptor activity."
Mahajan K., Challa S., Coppola D., Lawrence H., Luo Y., Gevariya H., Zhu W., Chen Y.A., Lawrence N.J., Mahajan N.P.
Prostate 70:1274-1285(2010) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT TYR-269, ACTIVITY REGULATION.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei | 706 | AndrogenCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 4 PublicationsManual assertion based on experiment ini
| 1 | |
| Binding sitei | 753 | AndrogenCombined sources Manual assertion inferred from combination of experimental and computational evidencei 4 PublicationsManual assertion based on experiment ini
| 1 | |
| Binding sitei | 878 | AndrogenCombined sources Manual assertion inferred from combination of experimental and computational evidencei 4 PublicationsManual assertion based on experiment ini
| 1 |
Regions
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi | 560 – 632 | Nuclear receptorPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 73 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri | 560 – 580 | NR C4-typePROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 21 | |
| Zinc fingeri | 596 – 620 | NR C4-typePROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 25 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- androgen binding Source: UniProtKB
<p>Inferred from Direct Assay</p>
<p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p>
<p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p>
Inferred from direct assayi
- Ref.72"Identification of a new androgen receptor (AR) co-regulator BUD31 and related peptides to suppress wild-type and mutated AR-mediated prostate cancer growth via peptide screening and X-ray structure analysis."
Hsu C.L., Liu J.S., Wu P.L., Guan H.H., Chen Y.L., Lin A.C., Ting H.J., Pang S.T., Yeh S.D., Ma W.L., Chen C.J., Wu W.G., Chang C.
Mol. Oncol. 8:1575-1587(2014) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.42 ANGSTROMS) OF 671-920 OF WILD-TYPE AND VARIANT PROSTATE CANCER ALA-878 IN COMPLEX WITH DIHYDROTESTOSTERONE AND BUD31 PEPTIDES, INTERACTION WITH BUD31, FUNCTION, SUBCELLULAR LOCATION, DOMAIN. - Ref.13"Molecular cloning of human and rat complementary DNA encoding androgen receptors."
Chang C., Kokontis J., Liao S.
Science 240:324-326(1988) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 191-920 (ISOFORM 1).
- ATPase binding Source: MGIInferred from direct assayi
- "Novel ATPase of SNF2-like protein family interacts with androgen receptor and modulates androgen-dependent transcription."
Rouleau N., Domans'kyi A., Reeben M., Moilanen A.-M., Havas K., Kang Z., Owen-Hughes T., Palvimo J.J., Jaenne O.A.
Mol. Biol. Cell 13:2106-2119(2002) [PubMed] [Europe PMC] [Abstract]
- beta-catenin binding Source: BHF-UCLInferred from direct assayi
- "A direct beta-catenin-independent interaction between androgen receptor and T cell factor 4."
Amir A.L., Barua M., McKnight N.C., Cheng S., Yuan X., Balk S.P.
J. Biol. Chem. 278:30828-30834(2003) [PubMed] [Europe PMC] [Abstract]
- chromatin binding Source: UniProtKBInferred from direct assayi
- "Regulation of androgen receptor-mediated transcription by RPB5 binding protein URI/RMP."
Mita P., Savas J.N., Djouder N., Yates J.R. III, Ha S., Ruoff R., Schafler E.D., Nwachukwu J.C., Tanese N., Cowan N.J., Zavadil J., Garabedian M.J., Logan S.K.
Mol. Cell. Biol. 31:3639-3652(2011) [PubMed] [Europe PMC] [Abstract]
- DNA binding Source: UniProtKB
<p>Non-traceable Author Statement</p>
<p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p>
<p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p>
Non-traceable author statementi
- Ref.23"Cloning and characterization of androgen receptor coactivator, ARA55, in human prostate."
Fujimoto N., Yeh S., Kang H.-Y., Inui S., Chang H.-C., Mizokami A., Chang C.
J. Biol. Chem. 274:8316-8321(1999) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH TGFB1I1.
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SBInferred from direct assayi
- "Glucocorticoid and androgen activation of monoamine oxidase A is regulated differently by R1 and Sp1."
Ou X.-M., Chen K., Shih J.C.
J. Biol. Chem. 281:21512-21525(2006) [PubMed] [Europe PMC] [Abstract]
- DNA-binding transcription factor activity Source: UniProtKBInferred from direct assayi
- "DJ-1 positively regulates the androgen receptor by impairing the binding of PIASx alpha to the receptor."
Takahashi K., Taira T., Niki T., Seino C., Iguchi-Ariga S.M.M., Ariga H.
J. Biol. Chem. 276:37556-37563(2001) [PubMed] [Europe PMC] [Abstract] - "Negative modulation of androgen receptor transcriptional activity by Daxx."
Lin D.Y., Fang H.I., Ma A.H., Huang Y.S., Pu Y.S., Jenster G., Kung H.J., Shih H.M.
Mol. Cell. Biol. 24:10529-10541(2004) [PubMed] [Europe PMC] [Abstract]
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- enzyme binding Source: UniProtKB
<p>Inferred from Physical Interaction</p>
<p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p>
<p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p>
Inferred from physical interactioni
- Ref.41"PRMT2, a member of the protein arginine methyltransferase family, is a coactivator of the androgen receptor."
Meyer R., Wolf S.S., Obendorf M.
J. Steroid Biochem. Mol. Biol. 107:1-14(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PRMT2, SUBCELLULAR LOCATION.
- nuclear receptor activity Source: UniProtKBInferred from direct assayi
- "Androgen regulation of the prostatic tumour suppressor NKX3.1 is mediated by its 3' untranslated region."
Thomas M.A., Preece D.M., Bentel J.M.
Biochem. J. 425:575-583(2010) [PubMed] [Europe PMC] [Abstract] - "Androgen receptor-dependent transactivation of growth arrest-specific gene 6 mediates inhibitory effects of testosterone on vascular calcification."
Son B.K., Akishita M., Iijima K., Ogawa S., Maemura K., Yu J., Takeyama K., Kato S., Eto M., Ouchi Y.
J. Biol. Chem. 285:7537-7544(2010) [PubMed] [Europe PMC] [Abstract] - Ref.72"Identification of a new androgen receptor (AR) co-regulator BUD31 and related peptides to suppress wild-type and mutated AR-mediated prostate cancer growth via peptide screening and X-ray structure analysis."
Hsu C.L., Liu J.S., Wu P.L., Guan H.H., Chen Y.L., Lin A.C., Ting H.J., Pang S.T., Yeh S.D., Ma W.L., Chen C.J., Wu W.G., Chang C.
Mol. Oncol. 8:1575-1587(2014) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.42 ANGSTROMS) OF 671-920 OF WILD-TYPE AND VARIANT PROSTATE CANCER ALA-878 IN COMPLEX WITH DIHYDROTESTOSTERONE AND BUD31 PEPTIDES, INTERACTION WITH BUD31, FUNCTION, SUBCELLULAR LOCATION, DOMAIN.
- POU domain binding Source: Ensembl
- protein dimerization activity Source: UniProtKBNon-traceable author statementi
- Ref.23"Cloning and characterization of androgen receptor coactivator, ARA55, in human prostate."
Fujimoto N., Yeh S., Kang H.-Y., Inui S., Chang H.-C., Mizokami A., Chang C.
J. Biol. Chem. 274:8316-8321(1999) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH TGFB1I1.
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SBInferred from direct assayi
- "Glucocorticoid and androgen activation of monoamine oxidase A is regulated differently by R1 and Sp1."
Ou X.-M., Chen K., Shih J.C.
J. Biol. Chem. 281:21512-21525(2006) [PubMed] [Europe PMC] [Abstract]
- RNA polymerase II general transcription initiation factor binding Source: ParkinsonsUK-UCLInferred from physical interactioni
- "TAF1 differentially enhances androgen receptor transcriptional activity via its N-terminal kinase and ubiquitin-activating and -conjugating domains."
Tavassoli P., Wafa L.A., Cheng H., Zoubeidi A., Fazli L., Gleave M., Snoek R., Rennie P.S.
Mol. Endocrinol. 24:696-708(2010) [PubMed] [Europe PMC] [Abstract]
- RNA polymerase II transcription factor binding Source: BHF-UCLInferred from physical interactioni
- "Modulation of androgen receptor transactivation by FoxH1. A newly identified androgen receptor corepressor."
Chen G., Nomura M., Morinaga H., Matsubara E., Okabe T., Goto K., Yanase T., Zheng H., Lu J., Nawata H.
J. Biol. Chem. 280:36355-36363(2005) [PubMed] [Europe PMC] [Abstract]
- signaling receptor binding Source: UniProtKBInferred from physical interactioni
- "Inhibition of androgen receptor (AR) function by the reproductive orphan nuclear receptor DAX-1."
Holter E., Kotaja N., Makela S., Strauss L., Kietz S., Janne O.A., Gustafsson J.A., Palvimo J.J., Treuter E.
Mol. Endocrinol. 16:515-528(2002) [PubMed] [Europe PMC] [Abstract]
- steroid binding Source: UniProtKB-KW
- steroid hormone receptor activity Source: BHF-UCLInferred from direct assayi
- "A direct beta-catenin-independent interaction between androgen receptor and T cell factor 4."
Amir A.L., Barua M., McKnight N.C., Cheng S., Yuan X., Balk S.P.
J. Biol. Chem. 278:30828-30834(2003) [PubMed] [Europe PMC] [Abstract]
- transcription factor binding Source: BHF-UCLInferred from physical interactioni
- "A direct beta-catenin-independent interaction between androgen receptor and T cell factor 4."
Amir A.L., Barua M., McKnight N.C., Cheng S., Yuan X., Balk S.P.
J. Biol. Chem. 278:30828-30834(2003) [PubMed] [Europe PMC] [Abstract]
- transcription regulatory region DNA binding Source: UniProtKBInferred from direct assayi
- "Androgen regulation of the prostatic tumour suppressor NKX3.1 is mediated by its 3' untranslated region."
Thomas M.A., Preece D.M., Bentel J.M.
Biochem. J. 425:575-583(2010) [PubMed] [Europe PMC] [Abstract]
- zinc ion binding Source: InterPro
GO - Biological processi
- activation of prostate induction by androgen receptor signaling pathway Source: Ensembl
- androgen receptor signaling pathway Source: UniProtKBInferred from direct assayi
- "Androgen regulation of the prostatic tumour suppressor NKX3.1 is mediated by its 3' untranslated region."
Thomas M.A., Preece D.M., Bentel J.M.
Biochem. J. 425:575-583(2010) [PubMed] [Europe PMC] [Abstract] - "Androgen receptor-dependent transactivation of growth arrest-specific gene 6 mediates inhibitory effects of testosterone on vascular calcification."
Son B.K., Akishita M., Iijima K., Ogawa S., Maemura K., Yu J., Takeyama K., Kato S., Eto M., Ouchi Y.
J. Biol. Chem. 285:7537-7544(2010) [PubMed] [Europe PMC] [Abstract]
- animal organ formation Source: Ensembl
- cell-cell signaling Source: ProtInc
<p>Traceable Author Statement</p>
<p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p>
<p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p>
Traceable author statementi
- "Glucocorticoids can promote androgen-independent growth of prostate cancer cells through a mutated androgen receptor."
Zhao X.Y., Malloy P.J., Krishnan A.V., Swami S., Navone N.M., Peehl D.M., Feldman D.
Nat. Med. 6:703-706(2000) [PubMed] [Europe PMC] [Abstract]
- cellular response to steroid hormone stimulus Source: CAFA
<p>Inferred from Mutant Phenotype</p>
<p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p>
<p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p>
Inferred from mutant phenotypei
- "Identification of glucocorticoid receptor domains involved in transrepression of transforming growth factor-beta action."
Li G., Wang S., Gelehrter T.D.
J. Biol. Chem. 278:41779-41788(2003) [PubMed] [Europe PMC] [Abstract]
- cellular response to testosterone stimulus Source: Ensembl
- epithelial cell differentiation involved in prostate gland development Source: Ensembl
- epithelial cell morphogenesis Source: Ensembl
- intracellular receptor signaling pathway Source: BHF-UCLInferred from direct assayi
- "Cooperative demethylation by JMJD2C and LSD1 promotes androgen receptor-dependent gene expression."
Wissmann M., Yin N., Muller J.M., Greschik H., Fodor B.D., Jenuwein T., Vogler C., Schneider R., Gunther T., Buettner R., Metzger E., Schule R.
Nat. Cell Biol. 9:347-353(2007) [PubMed] [Europe PMC] [Abstract]
- in utero embryonic development Source: Ensembl
- lateral sprouting involved in mammary gland duct morphogenesis Source: Ensembl
- Leydig cell differentiation Source: Ensembl
- male genitalia morphogenesis Source: Ensembl
- male somatic sex determination Source: Ensembl
- mammary gland alveolus development Source: Ensembl
- morphogenesis of an epithelial fold Source: Ensembl
- multicellular organism growth Source: Ensembl
- negative regulation of cell population proliferation Source: UniProtKBInferred from mutant phenotypei
- "Androgen regulation of the human FERM domain encoding gene EHM2 in a cell model of steroid-induced differentiation."
Chauhan S., Pandey R., Way J.F., Sroka T.C., Demetriou M.C., Kunz S., Cress A.E., Mount D.W., Miesfeld R.L.
Biochem. Biophys. Res. Commun. 310:421-432(2003) [PubMed] [Europe PMC] [Abstract]
- negative regulation of epithelial cell proliferation Source: Ensembl
- negative regulation of extrinsic apoptotic signaling pathway Source: BHF-UCLInferred from direct assayi
- "The androgen receptor induces integrin alpha6beta1 to promote prostate tumor cell survival via NF-kappaB and Bcl-xL Independently of PI3K signaling."
Lamb L.E., Zarif J.C., Miranti C.K.
Cancer Res. 71:2739-2749(2011) [PubMed] [Europe PMC] [Abstract]
- negative regulation of integrin biosynthetic process Source: BHF-UCLInferred from direct assayi
- "The androgen receptor induces integrin alpha6beta1 to promote prostate tumor cell survival via NF-kappaB and Bcl-xL Independently of PI3K signaling."
Lamb L.E., Zarif J.C., Miranti C.K.
Cancer Res. 71:2739-2749(2011) [PubMed] [Europe PMC] [Abstract]
- negative regulation of transcription by RNA polymerase II Source: CAFAInferred from mutant phenotypei
- "Identification of glucocorticoid receptor domains involved in transrepression of transforming growth factor-beta action."
Li G., Wang S., Gelehrter T.D.
J. Biol. Chem. 278:41779-41788(2003) [PubMed] [Europe PMC] [Abstract]
- positive regulation of cell differentiation Source: UniProtKBInferred from mutant phenotypei
- "Androgen regulation of the human FERM domain encoding gene EHM2 in a cell model of steroid-induced differentiation."
Chauhan S., Pandey R., Way J.F., Sroka T.C., Demetriou M.C., Kunz S., Cress A.E., Mount D.W., Miesfeld R.L.
Biochem. Biophys. Res. Commun. 310:421-432(2003) [PubMed] [Europe PMC] [Abstract]
- positive regulation of cell population proliferation Source: BHF-UCLInferred from direct assayi
- "Cooperative demethylation by JMJD2C and LSD1 promotes androgen receptor-dependent gene expression."
Wissmann M., Yin N., Muller J.M., Greschik H., Fodor B.D., Jenuwein T., Vogler C., Schneider R., Gunther T., Buettner R., Metzger E., Schule R.
Nat. Cell Biol. 9:347-353(2007) [PubMed] [Europe PMC] [Abstract]
- positive regulation of epithelial cell proliferation involved in prostate gland development Source: Ensembl
- positive regulation of gene expression Source: UniProtKBInferred from direct assayi
- "The NLR-related protein NWD1 is associated with prostate cancer and modulates androgen receptor signaling."
Correa R.G., Krajewska M., Ware C.F., Gerlic M., Reed J.C.
Oncotarget 5:1666-1682(2014) [PubMed] [Europe PMC] [Abstract]
- positive regulation of insulin-like growth factor receptor signaling pathway Source: Ensembl
- positive regulation of integrin biosynthetic process Source: BHF-UCLInferred from direct assayi
- "The androgen receptor induces integrin alpha6beta1 to promote prostate tumor cell survival via NF-kappaB and Bcl-xL Independently of PI3K signaling."
Lamb L.E., Zarif J.C., Miranti C.K.
Cancer Res. 71:2739-2749(2011) [PubMed] [Europe PMC] [Abstract]
- positive regulation of intracellular estrogen receptor signaling pathway Source: Ensembl
- positive regulation of MAPK cascade Source: Ensembl
- positive regulation of NF-kappaB transcription factor activity Source: BHF-UCLInferred from mutant phenotypei
- "The androgen receptor induces integrin alpha6beta1 to promote prostate tumor cell survival via NF-kappaB and Bcl-xL Independently of PI3K signaling."
Lamb L.E., Zarif J.C., Miranti C.K.
Cancer Res. 71:2739-2749(2011) [PubMed] [Europe PMC] [Abstract]
- positive regulation of phosphorylation Source: BHF-UCLInferred from mutant phenotypei
- "The androgen receptor induces integrin alpha6beta1 to promote prostate tumor cell survival via NF-kappaB and Bcl-xL Independently of PI3K signaling."
Lamb L.E., Zarif J.C., Miranti C.K.
Cancer Res. 71:2739-2749(2011) [PubMed] [Europe PMC] [Abstract]
- positive regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayi
- "DJ-1 positively regulates the androgen receptor by impairing the binding of PIASx alpha to the receptor."
Takahashi K., Taira T., Niki T., Seino C., Iguchi-Ariga S.M.M., Ariga H.
J. Biol. Chem. 276:37556-37563(2001) [PubMed] [Europe PMC] [Abstract]
- positive regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayi
- "Androgen receptor-dependent transactivation of growth arrest-specific gene 6 mediates inhibitory effects of testosterone on vascular calcification."
Son B.K., Akishita M., Iijima K., Ogawa S., Maemura K., Yu J., Takeyama K., Kato S., Eto M., Ouchi Y.
J. Biol. Chem. 285:7537-7544(2010) [PubMed] [Europe PMC] [Abstract]
- positive regulation of transcription by RNA polymerase III Source: BHF-UCLInferred from direct assayi
- "Prohibitin and the SWI/SNF ATPase subunit BRG1 are required for effective androgen antagonist-mediated transcriptional repression of androgen receptor-regulated genes."
Dai Y., Ngo D., Jacob J., Forman L.W., Faller D.V.
Carcinogenesis 29:1725-1733(2008) [PubMed] [Europe PMC] [Abstract]
- prostate gland epithelium morphogenesis Source: Ensembl
- prostate gland growth Source: Ensembl
- protein deubiquitination Source: Reactome
- regulation of developmental growth Source: Ensembl
- regulation of protein localization to plasma membrane Source: BHF-UCLInferred from direct assayi
- "The androgen receptor induces integrin alpha6beta1 to promote prostate tumor cell survival via NF-kappaB and Bcl-xL Independently of PI3K signaling."
Lamb L.E., Zarif J.C., Miranti C.K.
Cancer Res. 71:2739-2749(2011) [PubMed] [Europe PMC] [Abstract]
- regulation of systemic arterial blood pressure Source: Ensembl
- seminiferous tubule development Source: Ensembl
- signal transduction Source: ProtIncTraceable author statementi
- "Glucocorticoids can promote androgen-independent growth of prostate cancer cells through a mutated androgen receptor."
Zhao X.Y., Malloy P.J., Krishnan A.V., Swami S., Navone N.M., Peehl D.M., Feldman D.
Nat. Med. 6:703-706(2000) [PubMed] [Europe PMC] [Abstract]
- single fertilization Source: Ensembl
- spermatogenesis Source: Ensembl
- tertiary branching involved in mammary gland duct morphogenesis Source: Ensembl
- transcription, DNA-templated Source: UniProtKBInferred from direct assayi
- "Negative modulation of androgen receptor transcriptional activity by Daxx."
Lin D.Y., Fang H.I., Ma A.H., Huang Y.S., Pu Y.S., Jenster G., Kung H.J., Shih H.M.
Mol. Cell. Biol. 24:10529-10541(2004) [PubMed] [Europe PMC] [Abstract] - Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3).
- transcription initiation from RNA polymerase II promoter Source: Reactome
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Activator, DNA-binding, Receptor |
| Biological process | Transcription, Transcription regulation |
| Ligand | Lipid-binding, Metal-binding, Steroid-binding, Zinc |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR) R-HSA-383280 Nuclear Receptor transcription pathway R-HSA-4090294 SUMOylation of intracellular receptors R-HSA-5625886 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 R-HSA-5689880 Ub-specific processing proteases R-HSA-8940973 RUNX2 regulates osteoblast differentiation |
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | P10275 |
SIGNOR Signaling Network Open Resource More...SIGNORi | P10275 |
Protein family/group databases
MoonDB Database of extreme multifunctional and moonlighting proteins More...MoonDBi | P10275 Predicted |
Chemistry databases
SwissLipids knowledge resource for lipid biology More...SwissLipidsi | SLP:000001553 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Androgen receptorAlternative name(s): Dihydrotestosterone receptor Nuclear receptor subfamily 3 group C member 4 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:AR Synonyms:DHTR, NR3C4 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000169083.15 |
Human Gene Nomenclature Database More...HGNCi | HGNC:644 AR |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 313700 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P10275 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Nucleus
- Nucleus 6 Publications
Manual assertion based on experiment ini
- Ref.7"Androgen receptor function is modulated by the tissue-specific AR45 variant."
Ahrens-Fath I., Politz O., Geserick C., Haendler B.
FEBS J. 272:74-84(2005) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION. - Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3). - Ref.33"The scaffolding protein RACK1 interacts with androgen receptor and promotes cross-talk through a protein kinase C signaling pathway."
Rigas A.C., Ozanne D.M., Neal D.E., Robson C.N.
J. Biol. Chem. 278:46087-46093(2003) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RACK1, SUBCELLULAR LOCATION. - Ref.41"PRMT2, a member of the protein arginine methyltransferase family, is a coactivator of the androgen receptor."
Meyer R., Wolf S.S., Obendorf M.
J. Steroid Biochem. Mol. Biol. 107:1-14(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PRMT2, SUBCELLULAR LOCATION. - Ref.49"Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination."
Xu K., Shimelis H., Linn D.E., Jiang R., Yang X., Sun F., Guo Z., Chen H., Li W., Chen H., Kong X., Melamed J., Fang S., Xiao Z., Veenstra T.D., Qiu Y.
Cancer Cell 15:270-282(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, POLYUBIQUITINATION AT LYS-846 AND LYS-848 BY RNF6, MUTAGENESIS OF LYS-846 AND LYS-848, INTERACTION WITH RNF14 AND RNF6, SUBCELLULAR LOCATION. - Ref.72"Identification of a new androgen receptor (AR) co-regulator BUD31 and related peptides to suppress wild-type and mutated AR-mediated prostate cancer growth via peptide screening and X-ray structure analysis."
Hsu C.L., Liu J.S., Wu P.L., Guan H.H., Chen Y.L., Lin A.C., Ting H.J., Pang S.T., Yeh S.D., Ma W.L., Chen C.J., Wu W.G., Chang C.
Mol. Oncol. 8:1575-1587(2014) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.42 ANGSTROMS) OF 671-920 OF WILD-TYPE AND VARIANT PROSTATE CANCER ALA-878 IN COMPLEX WITH DIHYDROTESTOSTERONE AND BUD31 PEPTIDES, INTERACTION WITH BUD31, FUNCTION, SUBCELLULAR LOCATION, DOMAIN.
- Nucleus 6 Publications
Other locations
- Cytoplasm 3 Publications
Manual assertion based on experiment ini
- Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3). - Ref.33"The scaffolding protein RACK1 interacts with androgen receptor and promotes cross-talk through a protein kinase C signaling pathway."
Rigas A.C., Ozanne D.M., Neal D.E., Robson C.N.
J. Biol. Chem. 278:46087-46093(2003) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RACK1, SUBCELLULAR LOCATION. - Ref.41"PRMT2, a member of the protein arginine methyltransferase family, is a coactivator of the androgen receptor."
Meyer R., Wolf S.S., Obendorf M.
J. Steroid Biochem. Mol. Biol. 107:1-14(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PRMT2, SUBCELLULAR LOCATION.
Note: Detected at the promoter of target genes (PubMed:25091737). Predominantly cytoplasmic in unligated form but translocates to the nucleus upon ligand-binding. Can also translocate to the nucleus in unligated form in the presence of RACK1.3 Publications- Cytoplasm 3 Publications
- Ref.33"The scaffolding protein RACK1 interacts with androgen receptor and promotes cross-talk through a protein kinase C signaling pathway."
Rigas A.C., Ozanne D.M., Neal D.E., Robson C.N.
J. Biol. Chem. 278:46087-46093(2003) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH RACK1, SUBCELLULAR LOCATION. - Ref.41"PRMT2, a member of the protein arginine methyltransferase family, is a coactivator of the androgen receptor."
Meyer R., Wolf S.S., Obendorf M.
J. Steroid Biochem. Mol. Biol. 107:1-14(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PRMT2, SUBCELLULAR LOCATION. - Ref.72"Identification of a new androgen receptor (AR) co-regulator BUD31 and related peptides to suppress wild-type and mutated AR-mediated prostate cancer growth via peptide screening and X-ray structure analysis."
Hsu C.L., Liu J.S., Wu P.L., Guan H.H., Chen Y.L., Lin A.C., Ting H.J., Pang S.T., Yeh S.D., Ma W.L., Chen C.J., Wu W.G., Chang C.
Mol. Oncol. 8:1575-1587(2014) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.42 ANGSTROMS) OF 671-920 OF WILD-TYPE AND VARIANT PROSTATE CANCER ALA-878 IN COMPLEX WITH DIHYDROTESTOSTERONE AND BUD31 PEPTIDES, INTERACTION WITH BUD31, FUNCTION, SUBCELLULAR LOCATION, DOMAIN.
Manual assertion based on experiment ini
Cytosol
- cytosol Source: Reactome
Nucleus
- nuclear chromatin Source: BHF-UCLInferred from direct assayi
- "Cooperative demethylation by JMJD2C and LSD1 promotes androgen receptor-dependent gene expression."
Wissmann M., Yin N., Muller J.M., Greschik H., Fodor B.D., Jenuwein T., Vogler C., Schneider R., Gunther T., Buettner R., Metzger E., Schule R.
Nat. Cell Biol. 9:347-353(2007) [PubMed] [Europe PMC] [Abstract] - "Sirtuin 1 is required for antagonist-induced transcriptional repression of androgen-responsive genes by the androgen receptor."
Dai Y., Ngo D., Forman L.W., Qin D.C., Jacob J., Faller D.V.
Mol. Endocrinol. 21:1807-1821(2007) [PubMed] [Europe PMC] [Abstract]
- nuclear speck Source: CAFAInferred from direct assayi
- "Ski-interacting protein (SKIP) interacts with androgen receptor in the nucleus and modulates androgen-dependent transcription."
Abankwa D., Millard S.M., Martel N., Choong C.S., Yang M., Butler L.M., Buchanan G., Tilley W.D., Ueki N., Hayman M.J., Leong G.M.
BMC Biochem. 14:10-10(2013) [PubMed] [Europe PMC] [Abstract]
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKBInferred from direct assayi
- "Negative modulation of androgen receptor transcriptional activity by Daxx."
Lin D.Y., Fang H.I., Ma A.H., Huang Y.S., Pu Y.S., Jenster G., Kung H.J., Shih H.M.
Mol. Cell. Biol. 24:10529-10541(2004) [PubMed] [Europe PMC] [Abstract] - Ref.49"Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination."
Xu K., Shimelis H., Linn D.E., Jiang R., Yang X., Sun F., Guo Z., Chen H., Li W., Chen H., Kong X., Melamed J., Fang S., Xiao Z., Veenstra T.D., Qiu Y.
Cancer Cell 15:270-282(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, POLYUBIQUITINATION AT LYS-846 AND LYS-848 BY RNF6, MUTAGENESIS OF LYS-846 AND LYS-848, INTERACTION WITH RNF14 AND RNF6, SUBCELLULAR LOCATION. - Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3).
- nuclear chromatin Source: BHF-UCLInferred from direct assayi
Plasma Membrane
- plasma membrane Source: Ensembl
Other locations
- cytoplasm Source: UniProtKBInferred from direct assayi
- "Negative modulation of androgen receptor transcriptional activity by Daxx."
Lin D.Y., Fang H.I., Ma A.H., Huang Y.S., Pu Y.S., Jenster G., Kung H.J., Shih H.M.
Mol. Cell. Biol. 24:10529-10541(2004) [PubMed] [Europe PMC] [Abstract] - Ref.8"A novel androgen receptor splice variant is up-regulated during prostate cancer progression and promotes androgen depletion-resistant growth."
Guo Z., Yang X., Sun F., Jiang R., Linn D.E., Chen H., Chen H., Kong X., Melamed J., Tepper C.G., Kung H.J., Brodie A.M., Edwards J., Qiu Y.
Cancer Res. 69:2305-2313(2009) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-57, FUNCTION (ISOFORMS 3 AND 4), SUBCELLULAR LOCATION (ISOFORM 3).
- protein-containing complex Source: MGIInferred from direct assayi
- "Blood pressure is regulated by an alpha1D-adrenergic receptor/dystrophin signalosome."
Lyssand J.S., DeFino M.C., Tang X.B., Hertz A.L., Feller D.B., Wacker J.L., Adams M.E., Hague C.
J. Biol. Chem. 283:18792-18800(2008) [PubMed] [Europe PMC] [Abstract]
- cytoplasm Source: UniProtKBInferred from direct assayi
Keywords - Cellular componenti
Cytoplasm, Nucleus<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Androgen insensitivity syndrome (AIS)74 PublicationsManual assertion based on experiment ini
- Ref.4"Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity."
Lubahn D.B., Brown T.R., Simental J.A., Higgs H.N., Migeon C.J., Wilson E.M., French F.S.
Proc. Natl. Acad. Sci. U.S.A. 86:9534-9538(1989) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT AIS MET-867. - Ref.17"A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance."
Mowszowicz I., Lee H.-J., Chen H.-T., Mestayer C., Portois M.-C., Cabrol S., Mauvais-Jarvis P., Chang C.
Mol. Endocrinol. 7:861-869(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 558-625 (ISOFORMS 1/2), VARIANT AIS HIS-616. - Ref.19"Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics."
Ris-Stalpers C., Trifiro M.A., Kuiper G.G.J.M., Jenster G., Romalo G., Sai T., van Rooij H.C.J., Kaufman M., Rosenfield R.L., Liao S., Schweikert H.-U., Trapman J., Pinsky L., Brinkmann A.O.
Mol. Endocrinol. 5:1562-1569(1991) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 630-724, VARIANTS AIS ASN-696 AND HIS-696. - Ref.65"Structural basis for accommodation of nonsteroidal ligands in the androgen receptor."
Bohl C.E., Miller D.D., Chen J., Bell C.E., Dalton J.T.
J. Biol. Chem. 280:37747-37754(2005) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 665-920 IN COMPLEXES WITH NONSTEROIDAL LIGANDS, MUTAGENESIS OF TRP-742, CHARACTERIZATION OF VARIANT PROSTATE CANCER ALA-878, CHARACTERIZATION OF VARIANT AIS THR-896. - Ref.74"Molecular genetics of human androgen insensitivity."
Brown T.R., Scherer P.A., Chang Y.-T., Migeon C.J., Ghirri P., Murono K., Zhou Z.
Eur. J. Pediatr. 152 Suppl. 2:S62-S69(1993) [PubMed] [Europe PMC] [Abstract]Cited for: REVIEW ON VARIANTS AIS. - Ref.81"Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity."
Brown T.R., Lubahn D.B., Wilson E.M., French F.S., Migeon C.J., Corfen J.L.
Mol. Endocrinol. 4:1759-1772(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS CYS-775; GLN-832 AND MET-867. - Ref.83"A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance."
Marcelli M., Zoppi S., Grino P.B., Griffin J.E., Wilson J.D., McPhaul M.J.
J. Clin. Invest. 87:1123-1126(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PRO-618. - Ref.86"Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes."
Prior L., Bordet S., Trifiro M.A., Mhatre A., Kaufman M., Pinsky L., Wrogemann K., Belsham D.D., Pereira F., Greenberg C.R., Trapman J., Brinkmann A.O., Chang C., Liao S.
Am. J. Hum. Genet. 51:143-155(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS CYS-775 AND HIS-775. - Ref.88"A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome."
Sweet C.R., Behzadian M.A., McDonough P.G.
Fertil. Steril. 58:703-707(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS THR-766. - Ref.89"Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS)."
Jakubiczka S., Werder E.A., Wieacker P.
Hum. Genet. 90:311-312(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-750. - Ref.90"Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome."
Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 1:497-503(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.91"A single amino acid substitution (Met-786-->Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome."
Nakao R., Haji M., Yanase T., Ogo A., Takayanagi R., Katsube T., Fukumaki Y., Nawata H.
J. Clin. Endocrinol. Metab. 74:1152-1157(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-788. - Ref.92"Immunoreactive androgen receptor expression in subjects with androgen resistance."
Wilson C.M., Griffin J.E., Wilson J.D., Marcelli M., Zoppi S., McPhaul M.J.
J. Clin. Endocrinol. Metab. 75:1474-1478(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS ARG-742 AND CYS-835. - Ref.93"Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene."
McPhaul M.J., Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., Wilson J.D.
J. Clin. Invest. 90:2097-2101(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.95"Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance."
Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D., McPhaul M.J.
Mol. Endocrinol. 6:409-415(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS TYR-560 AND ARG-577, VARIANTS PAIS GLY-598 AND PRO-618. - Ref.96"Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique."
De Bellis A., Quigley C.A., Cariello N.F., el-Awady M.K., Sar M., Lane M.V., Wilson E.M., French F.S.
Mol. Endocrinol. 6:1909-1920(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS SER-706; VAL-750; PHE-760; HIS-775; CYS-856 AND GLY-865. - Ref.100"A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome."
Lumbroso S., Lobaccaro J.-M., Belon C., Martin D., Chaussain J.-L., Sultan C.
Fertil. Steril. 60:814-819(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-582. - Ref.101"An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome."
Lobaccaro J.-M., Lumbroso S., Ktari R., Dumas R., Sultan C.
Hum. Mol. Genet. 2:1041-1043(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-755. - Ref.103"A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro."
Adeyemo O., Kallio P.J., Palvimo J.J., Kontula K., Jaenne O.A.
Hum. Mol. Genet. 2:1809-1812(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS ARG-808. - Ref.105"Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy."
Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K., Wolfe H.J., Yandell D.W.
J. Clin. Endocrinol. Metab. 77:262-266(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS LYS-682 AND THR-843, VARIANTS PAIS HIS-841 AND LEU-867. - Ref.107"Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism."
Lobaccaro J.-M., Lumbroso S., Berta P., Chaussain J.-L., Sultan C.
J. Steroid Biochem. Mol. Biol. 44:211-216(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-744. - Ref.109"Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes."
Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P., Sheppard P., Matusik R., Pinsky L.
Mol. Endocrinol. 7:37-46(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS MET-867, VARIANT PAIS LEU-867. - Ref.111"Androgen receptor (AR) gene mutations in 6 families with androgen insensitivity syndrome (Abstract #114)."
Lobaccaro J.-M., Lumbroso S., Belon C., Chaussain J.L., Toublanc J.E., Leheup B., Sultan C.
Pediatr. Res. Suppl. 33:S22-S22(1993)Cited for: VARIANTS AIS PHE-582; VAL-744; VAL-755; GLU-768 AND CYS-856. - Ref.120"Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor."
Beitel L.K., Prior L., Vasiliou D.M., Gottlieb B., Kaufman M., Lumbroso R., Alvarado C., McGillivray B., Trifiro M.A., Pinsky L.
Hum. Mol. Genet. 3:21-27(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS PHE-583 DEL; ARG-616 DEL AND HIS-616. - Ref.121"Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis."
Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.
Hum. Mol. Genet. 3:1163-1166(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS SER-583; TYR-605; ALA-709; LEU-755 AND HIS-772, VARIANT AIS TRP-780. - Ref.122"Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor."
Baldazzi L., Baroncini C., Pirazzoli P., Balsamo A., Capelli M., Marchetti G., Bernardi F., Cacciari E.
Hum. Mol. Genet. 3:1169-1170(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-602. - Ref.124"An androgen receptor mutation causing androgen resistance in undervirilized male syndrome."
Tsukada T., Inoue M., Tachibana S., Nakai Y., Takebe H.
J. Clin. Endocrinol. Metab. 79:1202-1207(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-791. - Ref.125"Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance."
Beitel L.K., Kazemi-Esfarjani P., Kaufman M., Lumbroso R., DiGeorge A.M., Killinger D.W., Trifiro M.A., Pinsky L.
J. Clin. Invest. 94:546-554(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS CYS-841 AND HIS-841. - Ref.126"Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex."
Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.
J. Clin. Invest. 94:1642-1650(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.127"Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene."
Yong E.L., Ng S.C., Roy A.C., Yun G., Ratnam S.S.
Lancet 344:826-827(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS LYS-728. - Ref.128"A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity."
Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M., Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J., Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.
Pediatr. Res. 36:227-234(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS HIS-616 AND LEU-765, VARIANTS PAIS VAL-743 AND THR-746. - Ref.129"A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form."
Imai A., Ohno T., Iida K., Ohsuye K., Okano Y., Tamaya T.
Ann. Clin. Biochem. 32:482-486(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS HIS-841. - Ref.131"Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene."
Davies H.R., Hughes I.A., Patterson M.N.
Clin. Endocrinol. (Oxf.) 43:69-77(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-882. - Ref.132"Androgen receptor defects: historical, clinical, and molecular perspectives."
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S.
Endocr. Rev. 16:271-321(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS SER-706 AND HIS-764, VARIANTS PAIS LEU-726; THR-738; HIS-775 AND GLU-799. - Ref.133"Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families."
Shkolny D.L., Brown T.R., Punnett H.H., Kaufman M., Trifiro M.A., Pinsky L.
Hum. Mol. Genet. 4:515-521(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS LEU-832 AND GLN-832. - Ref.134"Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred."
Belsham D.D., Pereira F., Greenberg C.R., Liao S., Wrogemann K.
Hum. Mutat. 5:28-33(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PRO-678. - Ref.135"Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain."
Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J., Brown T.R.
Hum. Mutat. 6:152-162(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS CYS-764, VARIANTS AIS TRP-780; VAL-808 AND CYS-856. - Ref.141"The clinical and molecular spectrum of androgen insensitivity syndromes."
Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
Am. J. Med. Genet. 63:218-222(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS AND PAIS. - Ref.143"Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene."
Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G., Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.
Clin. Endocrinol. (Oxf.) 45:733-739(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS GLN-608; THR-611; LEU-755; HIS-841; THR-843 AND HIS-856, VARIANT AIS MET-867. - Ref.144"Rapid detection of a mutation hot-spot in the human androgen receptor."
Malmgren H., Gustavsson J., Tuvemo T., Dahl N.
Clin. Genet. 50:202-205(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS CYS-856. - Ref.147"A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance."
Lumbroso S., Lobaccaro J.-M., Georget V., Leger J., Poujol N., Terouanne B., Evain-Brion D., Czernichow P., Sultan C.
J. Clin. Endocrinol. Metab. 81:1984-1988(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS ARG-708. - Ref.148"Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene."
Rodien P., Mebarki F., Mowszowicz I., Chaussain J.L., Young J., Morel Y., Schaison G.
J. Clin. Endocrinol. Metab. 81:2994-2998(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS ILE-781. - Ref.150"Molecular basis of androgen insensitivity."
Bruggenwirth H.T., Boehmer A.L.M., Verleun-Mooijman M.C.T., Hoogenboezem T., Kleijer W.J., Otten B.J., Trapman J., Brinkmann A.O.
J. Steroid Biochem. Mol. Biol. 58:569-575(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS ASP-574. - Ref.151"Androgen receptor gene mutations are rarely associated with isolated penile hypospadias."
Sutherland R.W., Wiener J.S., Hicks J.P., Marcelli M., Gonzales E.T. Jr., Roth D.R., Lamb D.J.
J. Urol. 156:828-831(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS SER-549. - Ref.152"Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations."
Lobaccaro J.-M., Poujol N., Chiche L., Lumbroso S., Brown T.R., Sultan C.
Mol. Cell. Endocrinol. 116:137-147(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PRO-617. - Ref.153"Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor."
Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R., Nawata H.
Mol. Cell. Endocrinol. 120:15-24(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-580, VARIANT PAIS TYR-583. - Ref.156"Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling."
Boehmer A.L.M., Brinkmann A.O., Niermeijer M.F., Bakker L., Halley D.J.J., Drop S.L.S.
Am. J. Hum. Genet. 60:1003-1006(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS HIS-856. - Ref.159"Molecular analysis of androgen resistance syndromes in Egyptian patients."
Essawi M., Gad Y.Z., el-Rouby O., Temtamy S.A., Sabour Y.A., el-Awady M.K.
Dis. Markers 13:99-105(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS MET-890. - Ref.160"Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene."
Sinnecker G.H., Hiort O., Nitsche E.M., Holterhus P.M., Kruse K.
Eur. J. Pediatr. 156:7-14(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS TRP-780. - Ref.161"Mutations of the androgen receptor gene in patients with complete androgen insensitivity."
Jakubiczka S., Nedel S., Werder E.A., Schleiermacher E., Theile U., Wolff G., Wieacker P.
Hum. Mutat. 9:57-61(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS VAL-750; CYS-775; ILE-781 AND SER-795. - Ref.164"DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome."
Komori S., Sakata K., Tanaka H., Shima H., Koyama K.
J. Obstet. Gynaecol. Res. 23:277-281(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS ARG-196 AND CYS-856. - Ref.166"Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women."
Ko T.M., Yang Y.S., Wu M.Y., Kao C.H., Hsu P.M., Chuang S.M., Lee T.Y.
J. Reprod. Med. 42:424-428(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS ASN-733 AND THR-766. - Ref.167"Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome."
Bevan C.L., Hughes I.A., Patterson M.N.
J. Steroid Biochem. Mol. Biol. 61:19-26(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS ASP-751; PHE-763; THR-766; ASN-865 AND PHE-908. - Ref.168"Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome."
Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G., Klocker H.
J. Urol. 158:1553-1556(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS GLY-704, VARIANT AIS LEU-917. - Ref.169"Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity."
Komori S., Kasumi H., Sakata K., Tanaka H., Hamada K., Koyama K.
Arch. Gynecol. Obstet. 261:95-100(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS CYS-572; GLN-753 AND CYS-775. - Ref.170"Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism."
Cabral D.F., Maciel-Guerra A.T., Hackel C.
Braz. J. Med. Biol. Res. 31:775-778(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS HIS-616 AND GLN-753. - Ref.172"One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome."
Tanaka H., Komori S., Sakata K., Shima H., Koyama K.
Gynecol. Endocrinol. 12:75-82(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS PRO-257 AND ALA-821. - Ref.173"Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome."
Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B., Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A., Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.
Hum. Genet. 103:529-531(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS THR-766; TYR-785 AND THR-896, VARIANT PAIS GLY-841. - Ref.174"A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome."
Doerk T., Schnieders F., Jakubiczka S., Wieacker P., Schroeder-Kurth T., Schmidtke J.
Hum. Mutat. 11:337-339(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS VAL-696. - Ref.176"Single amino acid substitution in the hormone-binding domain of the androgen receptor in a family with complete androgen insensitivity syndrome (CAIS)."
Knoke I., Jakubiczka S., Rohrer T., Hanimann B., Werder E.A., Wieacker P.
Hum. Mutat. 12:220-220(1998)Cited for: VARIANT AIS LEU-893. - Ref.179"Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation."
Wang Q., Ghadessy F.J., Trounson A., de Kretser D., McLachlan R., Ng S.C., Yong E.L.
J. Clin. Endocrinol. Metab. 83:4303-4309(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS GLU-799. - Ref.180"Inherited and de novo androgen receptor gene mutations: investigation of single-case families."
Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
J. Pediatr. 132:939-943(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS. - Ref.185"Analysis of exon 1 mutations in the androgen receptor gene."
Gottlieb B., Vasiliou D.M., Lumbroso R., Beitel L.K., Pinsky L., Trifiro M.A.
Hum. Mutat. 14:527-539(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS ARG-392 AND ARG-445. - Ref.186"Androgen receptor gene mutations in 46,XY females with germ cell tumours."
Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.
Hum. Reprod. 14:664-670(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS GLN-608, VARIANT AIS LYS-682. - Ref.187"A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation."
Kanayama H., Naroda T., Inoue Y., Kurokawa Y., Kagawa S.
Int. J. Urol. 6:327-330(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS LEU-893. - Ref.188"Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively."
Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L., Pinsky L., Trifiro M.A.
J. Clin. Endocrinol. Metab. 84:805-810(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS ALA-773, VARIANT AIS GLY-872. - Ref.192"An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity."
Peters I., Weidemann W., Romalo G., Knorr D., Schweikert H.-U., Spindler K.D.
Mol. Cell. Endocrinol. 148:47-53(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS LEU-893. - Ref.194"Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome."
Holterhus P.M., Wiebel J., Sinnecker G.H., Bruggenwirth H.T., Sippell W.G., Brinkmann A.O., Kruse K., Hiort O.
Pediatr. Res. 46:684-690(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS THR-597. - Ref.195"Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome."
Yaegashi N., Uehara S., Senoo M., Sato J., Fujiwara J., Funato T., Sasaki T., Yajima A.
Tohoku J. Exp. Med. 187:263-272(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS PHE-813 AND GLN-832. - Ref.198"Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome."
Ahmed S.F., Cheng A., Dovey L., Hawkins J.R., Martin H., Rowland J., Shimura N., Tait A.D., Hughes I.A.
J. Clin. Endocrinol. Metab. 85:658-665(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS AND PAIS. - Ref.199"Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome."
Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.
J. Hum. Genet. 46:560-565(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS THR-683 AND GLU-712, VARIANTS AIS GLU-744; VAL-828; ARG-875 AND TYR-880. - Ref.201"Characterization of a novel receptor mutation A->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis."
Sills E.S., Sholes T.E., Perloe M., Kaplan C.R., Davis J.G., Tucker M.J.
Int. J. Mol. Med. 9:45-48(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS TYR-706. - Ref.204"Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor."
Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., Japp K., Karaviti L.P.
Clin. Genet. 65:183-190(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-577. - Ref.205"Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains."
Jaeaeskelaeinen J., Deeb A., Schwabe J.W., Mongan N.P., Martin H., Hughes I.A.
J. Mol. Endocrinol. 36:361-368(2006) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS AIS ASN-696; CYS-764; HIS-775; GLU-799; HIS-856 AND PHE-908.
Ref.4
"Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity."
Lubahn D.B., Brown T.R., Simental J.A., Higgs H.N., Migeon C.J., Wilson E.M., French F.S.
Proc. Natl. Acad. Sci. U.S.A. 86:9534-9538(1989) [PubMed] [Europe PMC] [Abstract]
Lubahn D.B., Brown T.R., Simental J.A., Higgs H.N., Migeon C.J., Wilson E.M., French F.S.
Proc. Natl. Acad. Sci. U.S.A. 86:9534-9538(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT AIS MET-867.
Ref.17
"A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance."
Mowszowicz I., Lee H.-J., Chen H.-T., Mestayer C., Portois M.-C., Cabrol S., Mauvais-Jarvis P., Chang C.
Mol. Endocrinol. 7:861-869(1993) [PubMed] [Europe PMC] [Abstract]
Mowszowicz I., Lee H.-J., Chen H.-T., Mestayer C., Portois M.-C., Cabrol S., Mauvais-Jarvis P., Chang C.
Mol. Endocrinol. 7:861-869(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 558-625 (ISOFORMS 1/2), VARIANT AIS HIS-616.
Ref.19
"Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics."
Ris-Stalpers C., Trifiro M.A., Kuiper G.G.J.M., Jenster G., Romalo G., Sai T., van Rooij H.C.J., Kaufman M., Rosenfield R.L., Liao S., Schweikert H.-U., Trapman J., Pinsky L., Brinkmann A.O.
Mol. Endocrinol. 5:1562-1569(1991) [PubMed] [Europe PMC] [Abstract]
Ris-Stalpers C., Trifiro M.A., Kuiper G.G.J.M., Jenster G., Romalo G., Sai T., van Rooij H.C.J., Kaufman M., Rosenfield R.L., Liao S., Schweikert H.-U., Trapman J., Pinsky L., Brinkmann A.O.
Mol. Endocrinol. 5:1562-1569(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 630-724, VARIANTS AIS ASN-696 AND HIS-696.
Ref.65
"Structural basis for accommodation of nonsteroidal ligands in the androgen receptor."
Bohl C.E., Miller D.D., Chen J., Bell C.E., Dalton J.T.
J. Biol. Chem. 280:37747-37754(2005) [PubMed] [Europe PMC] [Abstract]
Bohl C.E., Miller D.D., Chen J., Bell C.E., Dalton J.T.
J. Biol. Chem. 280:37747-37754(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 665-920 IN COMPLEXES WITH NONSTEROIDAL LIGANDS, MUTAGENESIS OF TRP-742, CHARACTERIZATION OF VARIANT PROSTATE CANCER ALA-878, CHARACTERIZATION OF VARIANT AIS THR-896.
Ref.74
"Molecular genetics of human androgen insensitivity."
Brown T.R., Scherer P.A., Chang Y.-T., Migeon C.J., Ghirri P., Murono K., Zhou Z.
Eur. J. Pediatr. 152 Suppl. 2:S62-S69(1993) [PubMed] [Europe PMC] [Abstract]
Brown T.R., Scherer P.A., Chang Y.-T., Migeon C.J., Ghirri P., Murono K., Zhou Z.
Eur. J. Pediatr. 152 Suppl. 2:S62-S69(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS AIS.
Ref.81
"Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity."
Brown T.R., Lubahn D.B., Wilson E.M., French F.S., Migeon C.J., Corfen J.L.
Mol. Endocrinol. 4:1759-1772(1990) [PubMed] [Europe PMC] [Abstract]
Brown T.R., Lubahn D.B., Wilson E.M., French F.S., Migeon C.J., Corfen J.L.
Mol. Endocrinol. 4:1759-1772(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS CYS-775; GLN-832 AND MET-867.
Ref.83
"A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance."
Marcelli M., Zoppi S., Grino P.B., Griffin J.E., Wilson J.D., McPhaul M.J.
J. Clin. Invest. 87:1123-1126(1991) [PubMed] [Europe PMC] [Abstract]
Marcelli M., Zoppi S., Grino P.B., Griffin J.E., Wilson J.D., McPhaul M.J.
J. Clin. Invest. 87:1123-1126(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS PRO-618.
Ref.86
"Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes."
Prior L., Bordet S., Trifiro M.A., Mhatre A., Kaufman M., Pinsky L., Wrogemann K., Belsham D.D., Pereira F., Greenberg C.R., Trapman J., Brinkmann A.O., Chang C., Liao S.
Am. J. Hum. Genet. 51:143-155(1992) [PubMed] [Europe PMC] [Abstract]
Prior L., Bordet S., Trifiro M.A., Mhatre A., Kaufman M., Pinsky L., Wrogemann K., Belsham D.D., Pereira F., Greenberg C.R., Trapman J., Brinkmann A.O., Chang C., Liao S.
Am. J. Hum. Genet. 51:143-155(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS CYS-775 AND HIS-775.
Ref.88
"A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome."
Sweet C.R., Behzadian M.A., McDonough P.G.
Fertil. Steril. 58:703-707(1992) [PubMed] [Europe PMC] [Abstract]
Sweet C.R., Behzadian M.A., McDonough P.G.
Fertil. Steril. 58:703-707(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS THR-766.
Ref.89
"Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS)."
Jakubiczka S., Werder E.A., Wieacker P.
Hum. Genet. 90:311-312(1992) [PubMed] [Europe PMC] [Abstract]
Jakubiczka S., Werder E.A., Wieacker P.
Hum. Genet. 90:311-312(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS VAL-750.
Ref.90
"Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome."
Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 1:497-503(1992) [PubMed] [Europe PMC] [Abstract]
Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 1:497-503(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS, VARIANTS PAIS.
Ref.91
"A single amino acid substitution (Met-786-->Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome."
Nakao R., Haji M., Yanase T., Ogo A., Takayanagi R., Katsube T., Fukumaki Y., Nawata H.
J. Clin. Endocrinol. Metab. 74:1152-1157(1992) [PubMed] [Europe PMC] [Abstract]
Nakao R., Haji M., Yanase T., Ogo A., Takayanagi R., Katsube T., Fukumaki Y., Nawata H.
J. Clin. Endocrinol. Metab. 74:1152-1157(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS VAL-788.
Ref.92
"Immunoreactive androgen receptor expression in subjects with androgen resistance."
Wilson C.M., Griffin J.E., Wilson J.D., Marcelli M., Zoppi S., McPhaul M.J.
J. Clin. Endocrinol. Metab. 75:1474-1478(1992) [PubMed] [Europe PMC] [Abstract]
Wilson C.M., Griffin J.E., Wilson J.D., Marcelli M., Zoppi S., McPhaul M.J.
J. Clin. Endocrinol. Metab. 75:1474-1478(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS ARG-742 AND CYS-835.
Ref.93
"Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene."
McPhaul M.J., Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., Wilson J.D.
J. Clin. Invest. 90:2097-2101(1992) [PubMed] [Europe PMC] [Abstract]
McPhaul M.J., Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., Wilson J.D.
J. Clin. Invest. 90:2097-2101(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS, VARIANTS PAIS.
Ref.95
"Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance."
Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D., McPhaul M.J.
Mol. Endocrinol. 6:409-415(1992) [PubMed] [Europe PMC] [Abstract]
Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D., McPhaul M.J.
Mol. Endocrinol. 6:409-415(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS TYR-560 AND ARG-577, VARIANTS PAIS GLY-598 AND PRO-618.
Ref.96
"Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique."
De Bellis A., Quigley C.A., Cariello N.F., el-Awady M.K., Sar M., Lane M.V., Wilson E.M., French F.S.
Mol. Endocrinol. 6:1909-1920(1992) [PubMed] [Europe PMC] [Abstract]
De Bellis A., Quigley C.A., Cariello N.F., el-Awady M.K., Sar M., Lane M.V., Wilson E.M., French F.S.
Mol. Endocrinol. 6:1909-1920(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS SER-706; VAL-750; PHE-760; HIS-775; CYS-856 AND GLY-865.
Ref.100
"A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome."
Lumbroso S., Lobaccaro J.-M., Belon C., Martin D., Chaussain J.-L., Sultan C.
Fertil. Steril. 60:814-819(1993) [PubMed] [Europe PMC] [Abstract]
Lumbroso S., Lobaccaro J.-M., Belon C., Martin D., Chaussain J.-L., Sultan C.
Fertil. Steril. 60:814-819(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS PHE-582.
Ref.101
"An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome."
Lobaccaro J.-M., Lumbroso S., Ktari R., Dumas R., Sultan C.
Hum. Mol. Genet. 2:1041-1043(1993) [PubMed] [Europe PMC] [Abstract]
Lobaccaro J.-M., Lumbroso S., Ktari R., Dumas R., Sultan C.
Hum. Mol. Genet. 2:1041-1043(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS VAL-755.
Ref.103
"A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro."
Adeyemo O., Kallio P.J., Palvimo J.J., Kontula K., Jaenne O.A.
Hum. Mol. Genet. 2:1809-1812(1993) [PubMed] [Europe PMC] [Abstract]
Adeyemo O., Kallio P.J., Palvimo J.J., Kontula K., Jaenne O.A.
Hum. Mol. Genet. 2:1809-1812(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS ARG-808.
Ref.105
"Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy."
Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K., Wolfe H.J., Yandell D.W.
J. Clin. Endocrinol. Metab. 77:262-266(1993) [PubMed] [Europe PMC] [Abstract]
Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K., Wolfe H.J., Yandell D.W.
J. Clin. Endocrinol. Metab. 77:262-266(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS LYS-682 AND THR-843, VARIANTS PAIS HIS-841 AND LEU-867.
Ref.107
"Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism."
Lobaccaro J.-M., Lumbroso S., Berta P., Chaussain J.-L., Sultan C.
J. Steroid Biochem. Mol. Biol. 44:211-216(1993) [PubMed] [Europe PMC] [Abstract]
Lobaccaro J.-M., Lumbroso S., Berta P., Chaussain J.-L., Sultan C.
J. Steroid Biochem. Mol. Biol. 44:211-216(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS VAL-744.
Ref.109
"Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes."
Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P., Sheppard P., Matusik R., Pinsky L.
Mol. Endocrinol. 7:37-46(1993) [PubMed] [Europe PMC] [Abstract]
Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P., Sheppard P., Matusik R., Pinsky L.
Mol. Endocrinol. 7:37-46(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS MET-867, VARIANT PAIS LEU-867.
Ref.111
"Androgen receptor (AR) gene mutations in 6 families with androgen insensitivity syndrome (Abstract #114)."
Lobaccaro J.-M., Lumbroso S., Belon C., Chaussain J.L., Toublanc J.E., Leheup B., Sultan C.
Pediatr. Res. Suppl. 33:S22-S22(1993)
Lobaccaro J.-M., Lumbroso S., Belon C., Chaussain J.L., Toublanc J.E., Leheup B., Sultan C.
Pediatr. Res. Suppl. 33:S22-S22(1993)
Cited for: VARIANTS AIS PHE-582; VAL-744; VAL-755; GLU-768 AND CYS-856.
Ref.120
"Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor."
Beitel L.K., Prior L., Vasiliou D.M., Gottlieb B., Kaufman M., Lumbroso R., Alvarado C., McGillivray B., Trifiro M.A., Pinsky L.
Hum. Mol. Genet. 3:21-27(1994) [PubMed] [Europe PMC] [Abstract]
Beitel L.K., Prior L., Vasiliou D.M., Gottlieb B., Kaufman M., Lumbroso R., Alvarado C., McGillivray B., Trifiro M.A., Pinsky L.
Hum. Mol. Genet. 3:21-27(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS PHE-583 DEL; ARG-616 DEL AND HIS-616.
Ref.121
"Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis."
Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.
Hum. Mol. Genet. 3:1163-1166(1994) [PubMed] [Europe PMC] [Abstract]
Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.
Hum. Mol. Genet. 3:1163-1166(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS SER-583; TYR-605; ALA-709; LEU-755 AND HIS-772, VARIANT AIS TRP-780.
Ref.122
"Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor."
Baldazzi L., Baroncini C., Pirazzoli P., Balsamo A., Capelli M., Marchetti G., Bernardi F., Cacciari E.
Hum. Mol. Genet. 3:1169-1170(1994) [PubMed] [Europe PMC] [Abstract]
Baldazzi L., Baroncini C., Pirazzoli P., Balsamo A., Capelli M., Marchetti G., Bernardi F., Cacciari E.
Hum. Mol. Genet. 3:1169-1170(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS PHE-602.
Ref.124
"An androgen receptor mutation causing androgen resistance in undervirilized male syndrome."
Tsukada T., Inoue M., Tachibana S., Nakai Y., Takebe H.
J. Clin. Endocrinol. Metab. 79:1202-1207(1994) [PubMed] [Europe PMC] [Abstract]
Tsukada T., Inoue M., Tachibana S., Nakai Y., Takebe H.
J. Clin. Endocrinol. Metab. 79:1202-1207(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS PHE-791.
Ref.125
"Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance."
Beitel L.K., Kazemi-Esfarjani P., Kaufman M., Lumbroso R., DiGeorge A.M., Killinger D.W., Trifiro M.A., Pinsky L.
J. Clin. Invest. 94:546-554(1994) [PubMed] [Europe PMC] [Abstract]
Beitel L.K., Kazemi-Esfarjani P., Kaufman M., Lumbroso R., DiGeorge A.M., Killinger D.W., Trifiro M.A., Pinsky L.
J. Clin. Invest. 94:546-554(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS CYS-841 AND HIS-841.
Ref.126
"Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex."
Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.
J. Clin. Invest. 94:1642-1650(1994) [PubMed] [Europe PMC] [Abstract]
Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.
J. Clin. Invest. 94:1642-1650(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS, VARIANTS PAIS.
Ref.127
"Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene."
Yong E.L., Ng S.C., Roy A.C., Yun G., Ratnam S.S.
Lancet 344:826-827(1994) [PubMed] [Europe PMC] [Abstract]
Yong E.L., Ng S.C., Roy A.C., Yun G., Ratnam S.S.
Lancet 344:826-827(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS LYS-728.
Ref.128
"A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity."
Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M., Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J., Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.
Pediatr. Res. 36:227-234(1994) [PubMed] [Europe PMC] [Abstract]
Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M., Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J., Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.
Pediatr. Res. 36:227-234(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS HIS-616 AND LEU-765, VARIANTS PAIS VAL-743 AND THR-746.
Ref.129
"A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form."
Imai A., Ohno T., Iida K., Ohsuye K., Okano Y., Tamaya T.
Ann. Clin. Biochem. 32:482-486(1995) [PubMed] [Europe PMC] [Abstract]
Imai A., Ohno T., Iida K., Ohsuye K., Okano Y., Tamaya T.
Ann. Clin. Biochem. 32:482-486(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS HIS-841.
Ref.131
"Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene."
Davies H.R., Hughes I.A., Patterson M.N.
Clin. Endocrinol. (Oxf.) 43:69-77(1995) [PubMed] [Europe PMC] [Abstract]
Davies H.R., Hughes I.A., Patterson M.N.
Clin. Endocrinol. (Oxf.) 43:69-77(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS VAL-882.
Ref.132
"Androgen receptor defects: historical, clinical, and molecular perspectives."
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S.
Endocr. Rev. 16:271-321(1995) [PubMed] [Europe PMC] [Abstract]
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S.
Endocr. Rev. 16:271-321(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS SER-706 AND HIS-764, VARIANTS PAIS LEU-726; THR-738; HIS-775 AND GLU-799.
Ref.133
"Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families."
Shkolny D.L., Brown T.R., Punnett H.H., Kaufman M., Trifiro M.A., Pinsky L.
Hum. Mol. Genet. 4:515-521(1995) [PubMed] [Europe PMC] [Abstract]
Shkolny D.L., Brown T.R., Punnett H.H., Kaufman M., Trifiro M.A., Pinsky L.
Hum. Mol. Genet. 4:515-521(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS LEU-832 AND GLN-832.
Ref.134
"Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred."
Belsham D.D., Pereira F., Greenberg C.R., Liao S., Wrogemann K.
Hum. Mutat. 5:28-33(1995) [PubMed] [Europe PMC] [Abstract]
Belsham D.D., Pereira F., Greenberg C.R., Liao S., Wrogemann K.
Hum. Mutat. 5:28-33(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS PRO-678.
Ref.135
"Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain."
Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J., Brown T.R.
Hum. Mutat. 6:152-162(1995) [PubMed] [Europe PMC] [Abstract]
Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J., Brown T.R.
Hum. Mutat. 6:152-162(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS CYS-764, VARIANTS AIS TRP-780; VAL-808 AND CYS-856.
Ref.141
"The clinical and molecular spectrum of androgen insensitivity syndromes."
Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
Am. J. Med. Genet. 63:218-222(1996) [PubMed] [Europe PMC] [Abstract]
Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
Am. J. Med. Genet. 63:218-222(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS AND PAIS.
Ref.143
"Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene."
Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G., Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.
Clin. Endocrinol. (Oxf.) 45:733-739(1996) [PubMed] [Europe PMC] [Abstract]
Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G., Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.
Clin. Endocrinol. (Oxf.) 45:733-739(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS GLN-608; THR-611; LEU-755; HIS-841; THR-843 AND HIS-856, VARIANT AIS MET-867.
Ref.144
"Rapid detection of a mutation hot-spot in the human androgen receptor."
Malmgren H., Gustavsson J., Tuvemo T., Dahl N.
Clin. Genet. 50:202-205(1996) [PubMed] [Europe PMC] [Abstract]
Malmgren H., Gustavsson J., Tuvemo T., Dahl N.
Clin. Genet. 50:202-205(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS CYS-856.
Ref.147
"A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance."
Lumbroso S., Lobaccaro J.-M., Georget V., Leger J., Poujol N., Terouanne B., Evain-Brion D., Czernichow P., Sultan C.
J. Clin. Endocrinol. Metab. 81:1984-1988(1996) [PubMed] [Europe PMC] [Abstract]
Lumbroso S., Lobaccaro J.-M., Georget V., Leger J., Poujol N., Terouanne B., Evain-Brion D., Czernichow P., Sultan C.
J. Clin. Endocrinol. Metab. 81:1984-1988(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS ARG-708.
Ref.148
"Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene."
Rodien P., Mebarki F., Mowszowicz I., Chaussain J.L., Young J., Morel Y., Schaison G.
J. Clin. Endocrinol. Metab. 81:2994-2998(1996) [PubMed] [Europe PMC] [Abstract]
Rodien P., Mebarki F., Mowszowicz I., Chaussain J.L., Young J., Morel Y., Schaison G.
J. Clin. Endocrinol. Metab. 81:2994-2998(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS ILE-781.
Ref.150
"Molecular basis of androgen insensitivity."
Bruggenwirth H.T., Boehmer A.L.M., Verleun-Mooijman M.C.T., Hoogenboezem T., Kleijer W.J., Otten B.J., Trapman J., Brinkmann A.O.
J. Steroid Biochem. Mol. Biol. 58:569-575(1996) [PubMed] [Europe PMC] [Abstract]
Bruggenwirth H.T., Boehmer A.L.M., Verleun-Mooijman M.C.T., Hoogenboezem T., Kleijer W.J., Otten B.J., Trapman J., Brinkmann A.O.
J. Steroid Biochem. Mol. Biol. 58:569-575(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS ASP-574.
Ref.151
"Androgen receptor gene mutations are rarely associated with isolated penile hypospadias."
Sutherland R.W., Wiener J.S., Hicks J.P., Marcelli M., Gonzales E.T. Jr., Roth D.R., Lamb D.J.
J. Urol. 156:828-831(1996) [PubMed] [Europe PMC] [Abstract]
Sutherland R.W., Wiener J.S., Hicks J.P., Marcelli M., Gonzales E.T. Jr., Roth D.R., Lamb D.J.
J. Urol. 156:828-831(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS SER-549.
Ref.152
"Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations."
Lobaccaro J.-M., Poujol N., Chiche L., Lumbroso S., Brown T.R., Sultan C.
Mol. Cell. Endocrinol. 116:137-147(1996) [PubMed] [Europe PMC] [Abstract]
Lobaccaro J.-M., Poujol N., Chiche L., Lumbroso S., Brown T.R., Sultan C.
Mol. Cell. Endocrinol. 116:137-147(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS PRO-617.
Ref.153
"Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor."
Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R., Nawata H.
Mol. Cell. Endocrinol. 120:15-24(1996) [PubMed] [Europe PMC] [Abstract]
Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R., Nawata H.
Mol. Cell. Endocrinol. 120:15-24(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS PHE-580, VARIANT PAIS TYR-583.
Ref.156
"Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling."
Boehmer A.L.M., Brinkmann A.O., Niermeijer M.F., Bakker L., Halley D.J.J., Drop S.L.S.
Am. J. Hum. Genet. 60:1003-1006(1997) [PubMed] [Europe PMC] [Abstract]
Boehmer A.L.M., Brinkmann A.O., Niermeijer M.F., Bakker L., Halley D.J.J., Drop S.L.S.
Am. J. Hum. Genet. 60:1003-1006(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS HIS-856.
Ref.159
"Molecular analysis of androgen resistance syndromes in Egyptian patients."
Essawi M., Gad Y.Z., el-Rouby O., Temtamy S.A., Sabour Y.A., el-Awady M.K.
Dis. Markers 13:99-105(1997) [PubMed] [Europe PMC] [Abstract]
Essawi M., Gad Y.Z., el-Rouby O., Temtamy S.A., Sabour Y.A., el-Awady M.K.
Dis. Markers 13:99-105(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS MET-890.
Ref.160
"Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene."
Sinnecker G.H., Hiort O., Nitsche E.M., Holterhus P.M., Kruse K.
Eur. J. Pediatr. 156:7-14(1997) [PubMed] [Europe PMC] [Abstract]
Sinnecker G.H., Hiort O., Nitsche E.M., Holterhus P.M., Kruse K.
Eur. J. Pediatr. 156:7-14(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS TRP-780.
Ref.161
"Mutations of the androgen receptor gene in patients with complete androgen insensitivity."
Jakubiczka S., Nedel S., Werder E.A., Schleiermacher E., Theile U., Wolff G., Wieacker P.
Hum. Mutat. 9:57-61(1997) [PubMed] [Europe PMC] [Abstract]
Jakubiczka S., Nedel S., Werder E.A., Schleiermacher E., Theile U., Wolff G., Wieacker P.
Hum. Mutat. 9:57-61(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS VAL-750; CYS-775; ILE-781 AND SER-795.
Ref.164
"DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome."
Komori S., Sakata K., Tanaka H., Shima H., Koyama K.
J. Obstet. Gynaecol. Res. 23:277-281(1997) [PubMed] [Europe PMC] [Abstract]
Komori S., Sakata K., Tanaka H., Shima H., Koyama K.
J. Obstet. Gynaecol. Res. 23:277-281(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS ARG-196 AND CYS-856.
Ref.166
"Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women."
Ko T.M., Yang Y.S., Wu M.Y., Kao C.H., Hsu P.M., Chuang S.M., Lee T.Y.
J. Reprod. Med. 42:424-428(1997) [PubMed] [Europe PMC] [Abstract]
Ko T.M., Yang Y.S., Wu M.Y., Kao C.H., Hsu P.M., Chuang S.M., Lee T.Y.
J. Reprod. Med. 42:424-428(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS ASN-733 AND THR-766.
Ref.167
"Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome."
Bevan C.L., Hughes I.A., Patterson M.N.
J. Steroid Biochem. Mol. Biol. 61:19-26(1997) [PubMed] [Europe PMC] [Abstract]
Bevan C.L., Hughes I.A., Patterson M.N.
J. Steroid Biochem. Mol. Biol. 61:19-26(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS ASP-751; PHE-763; THR-766; ASN-865 AND PHE-908.
Ref.168
"Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome."
Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G., Klocker H.
J. Urol. 158:1553-1556(1997) [PubMed] [Europe PMC] [Abstract]
Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G., Klocker H.
J. Urol. 158:1553-1556(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS GLY-704, VARIANT AIS LEU-917.
Ref.169
"Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity."
Komori S., Kasumi H., Sakata K., Tanaka H., Hamada K., Koyama K.
Arch. Gynecol. Obstet. 261:95-100(1998) [PubMed] [Europe PMC] [Abstract]
Komori S., Kasumi H., Sakata K., Tanaka H., Hamada K., Koyama K.
Arch. Gynecol. Obstet. 261:95-100(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS CYS-572; GLN-753 AND CYS-775.
Ref.170
"Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism."
Cabral D.F., Maciel-Guerra A.T., Hackel C.
Braz. J. Med. Biol. Res. 31:775-778(1998) [PubMed] [Europe PMC] [Abstract]
Cabral D.F., Maciel-Guerra A.T., Hackel C.
Braz. J. Med. Biol. Res. 31:775-778(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS HIS-616 AND GLN-753.
Ref.172
"One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome."
Tanaka H., Komori S., Sakata K., Shima H., Koyama K.
Gynecol. Endocrinol. 12:75-82(1998) [PubMed] [Europe PMC] [Abstract]
Tanaka H., Komori S., Sakata K., Shima H., Koyama K.
Gynecol. Endocrinol. 12:75-82(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS PRO-257 AND ALA-821.
Ref.173
"Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome."
Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B., Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A., Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.
Hum. Genet. 103:529-531(1998) [PubMed] [Europe PMC] [Abstract]
Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B., Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A., Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.
Hum. Genet. 103:529-531(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS THR-766; TYR-785 AND THR-896, VARIANT PAIS GLY-841.
Ref.174
"A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome."
Doerk T., Schnieders F., Jakubiczka S., Wieacker P., Schroeder-Kurth T., Schmidtke J.
Hum. Mutat. 11:337-339(1998) [PubMed] [Europe PMC] [Abstract]
Doerk T., Schnieders F., Jakubiczka S., Wieacker P., Schroeder-Kurth T., Schmidtke J.
Hum. Mutat. 11:337-339(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS VAL-696.
Ref.176
"Single amino acid substitution in the hormone-binding domain of the androgen receptor in a family with complete androgen insensitivity syndrome (CAIS)."
Knoke I., Jakubiczka S., Rohrer T., Hanimann B., Werder E.A., Wieacker P.
Hum. Mutat. 12:220-220(1998)
Knoke I., Jakubiczka S., Rohrer T., Hanimann B., Werder E.A., Wieacker P.
Hum. Mutat. 12:220-220(1998)
Cited for: VARIANT AIS LEU-893.
Ref.179
"Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation."
Wang Q., Ghadessy F.J., Trounson A., de Kretser D., McLachlan R., Ng S.C., Yong E.L.
J. Clin. Endocrinol. Metab. 83:4303-4309(1998) [PubMed] [Europe PMC] [Abstract]
Wang Q., Ghadessy F.J., Trounson A., de Kretser D., McLachlan R., Ng S.C., Yong E.L.
J. Clin. Endocrinol. Metab. 83:4303-4309(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS GLU-799.
Ref.180
"Inherited and de novo androgen receptor gene mutations: investigation of single-case families."
Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
J. Pediatr. 132:939-943(1998) [PubMed] [Europe PMC] [Abstract]
Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.
J. Pediatr. 132:939-943(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS.
Ref.185
"Analysis of exon 1 mutations in the androgen receptor gene."
Gottlieb B., Vasiliou D.M., Lumbroso R., Beitel L.K., Pinsky L., Trifiro M.A.
Hum. Mutat. 14:527-539(1999) [PubMed] [Europe PMC] [Abstract]
Gottlieb B., Vasiliou D.M., Lumbroso R., Beitel L.K., Pinsky L., Trifiro M.A.
Hum. Mutat. 14:527-539(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS ARG-392 AND ARG-445.
Ref.186
"Androgen receptor gene mutations in 46,XY females with germ cell tumours."
Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.
Hum. Reprod. 14:664-670(1999) [PubMed] [Europe PMC] [Abstract]
Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.
Hum. Reprod. 14:664-670(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS GLN-608, VARIANT AIS LYS-682.
Ref.187
"A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation."
Kanayama H., Naroda T., Inoue Y., Kurokawa Y., Kagawa S.
Int. J. Urol. 6:327-330(1999) [PubMed] [Europe PMC] [Abstract]
Kanayama H., Naroda T., Inoue Y., Kurokawa Y., Kagawa S.
Int. J. Urol. 6:327-330(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS LEU-893.
Ref.188
"Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively."
Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L., Pinsky L., Trifiro M.A.
J. Clin. Endocrinol. Metab. 84:805-810(1999) [PubMed] [Europe PMC] [Abstract]
Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L., Pinsky L., Trifiro M.A.
J. Clin. Endocrinol. Metab. 84:805-810(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS ALA-773, VARIANT AIS GLY-872.
Ref.192
"An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity."
Peters I., Weidemann W., Romalo G., Knorr D., Schweikert H.-U., Spindler K.D.
Mol. Cell. Endocrinol. 148:47-53(1999) [PubMed] [Europe PMC] [Abstract]
Peters I., Weidemann W., Romalo G., Knorr D., Schweikert H.-U., Spindler K.D.
Mol. Cell. Endocrinol. 148:47-53(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS LEU-893.
Ref.194
"Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome."
Holterhus P.M., Wiebel J., Sinnecker G.H., Bruggenwirth H.T., Sippell W.G., Brinkmann A.O., Kruse K., Hiort O.
Pediatr. Res. 46:684-690(1999) [PubMed] [Europe PMC] [Abstract]
Holterhus P.M., Wiebel J., Sinnecker G.H., Bruggenwirth H.T., Sippell W.G., Brinkmann A.O., Kruse K., Hiort O.
Pediatr. Res. 46:684-690(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS THR-597.
Ref.195
"Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome."
Yaegashi N., Uehara S., Senoo M., Sato J., Fujiwara J., Funato T., Sasaki T., Yajima A.
Tohoku J. Exp. Med. 187:263-272(1999) [PubMed] [Europe PMC] [Abstract]
Yaegashi N., Uehara S., Senoo M., Sato J., Fujiwara J., Funato T., Sasaki T., Yajima A.
Tohoku J. Exp. Med. 187:263-272(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS PHE-813 AND GLN-832.
Ref.198
"Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome."
Ahmed S.F., Cheng A., Dovey L., Hawkins J.R., Martin H., Rowland J., Shimura N., Tait A.D., Hughes I.A.
J. Clin. Endocrinol. Metab. 85:658-665(2000) [PubMed] [Europe PMC] [Abstract]
Ahmed S.F., Cheng A., Dovey L., Hawkins J.R., Martin H., Rowland J., Shimura N., Tait A.D., Hughes I.A.
J. Clin. Endocrinol. Metab. 85:658-665(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS AND PAIS.
Ref.199
"Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome."
Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.
J. Hum. Genet. 46:560-565(2001) [PubMed] [Europe PMC] [Abstract]
Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.
J. Hum. Genet. 46:560-565(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS THR-683 AND GLU-712, VARIANTS AIS GLU-744; VAL-828; ARG-875 AND TYR-880.
Ref.201
"Characterization of a novel receptor mutation A->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis."
Sills E.S., Sholes T.E., Perloe M., Kaplan C.R., Davis J.G., Tucker M.J.
Int. J. Mol. Med. 9:45-48(2002) [PubMed] [Europe PMC] [Abstract]
Sills E.S., Sholes T.E., Perloe M., Kaplan C.R., Davis J.G., Tucker M.J.
Int. J. Mol. Med. 9:45-48(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS TYR-706.
Ref.204
"Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor."
Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., Japp K., Karaviti L.P.
Clin. Genet. 65:183-190(2004) [PubMed] [Europe PMC] [Abstract]
Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., Japp K., Karaviti L.P.
Clin. Genet. 65:183-190(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS PHE-577.
Ref.205
"Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains."
Jaeaeskelaeinen J., Deeb A., Schwabe J.W., Mongan N.P., Martin H., Hughes I.A.
J. Mol. Endocrinol. 36:361-368(2006) [PubMed] [Europe PMC] [Abstract]
Jaeaeskelaeinen J., Deeb A., Schwabe J.W., Mongan N.P., Martin H., Hughes I.A.
J. Mol. Endocrinol. 36:361-368(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS AIS ASN-696; CYS-764; HIS-775; GLU-799; HIS-856 AND PHE-908.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.
Related information in OMIM| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009224 | 196 | Q → R in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009225 | 257 | L → P in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009226 | 392 | P → R in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009227 | 392 | P → S in AIS. Corresponds to variant dbSNP:rs201934623EnsemblClinVar. | 1 | |
| Natural variantiVAR_009228 | 445 | Q → R in AIS; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009719 | 492 | G → S in AIS. | 1 | |
| Natural variantiVAR_009722 | 549 | P → S in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009723 | 560 | C → Y in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009727 | 572 | Y → C in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009728 | 574 | A → D in AIS. | 1 | |
| Natural variantiVAR_009731 | 577 | C → F in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009732 | 577 | C → R in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009733 | 580 | C → F in AIS; reduced transcription and DNA binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009734 | 580 | C → Y in AIS. | 1 | |
| Natural variantiVAR_009736 | 582 | V → F in AIS. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009739 | 583 | Missing in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009740 | 586 | R → K in AIS. | 1 | |
| Natural variantiVAR_009743 | 597 | A → T in AIS; abolishes dimerization. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009746 | 602 | C → F in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009749 | 612 | C → Y in AIS. | 1 | |
| Natural variantiVAR_009751 | 616 | R → H in AIS and PAIS. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009752 | 616 | R → P in AIS. | 1 | |
| Natural variantiVAR_009750 | 616 | Missing in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009753 | 617 | L → P in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009755 | 618 | R → P in AIS and PAIS; associated with G-598 in a PAIS patient; loss of DNA-binding activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004687 | 665 | I → N in AIS and PAIS. | 1 | |
| Natural variantiVAR_004688 | 678 | L → P in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009764 | 682 | E → K in AIS. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009766 | 685 | V → I in AIS. Corresponds to variant dbSNP:rs1555995822EnsemblClinVar. | 1 | |
| Natural variantiVAR_009769 | 689 | G → E in AIS. | 1 | |
| Natural variantiVAR_004689 | 693 | Missing in AIS. | 1 | |
| Natural variantiVAR_004690 | 696 | D → H in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004691 | 696 | D → N in AIS; almost complete loss of androgen binding and transcription activation. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004692 | 696 | D → V in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009771 | 701 | L → M in AIS. | 1 | |
| Natural variantiVAR_009772 | 702 | L → F in AIS. Corresponds to variant dbSNP:rs1555995851EnsemblClinVar. | 1 | |
| Natural variantiVAR_009773 | 702 | L → H in AIS and prostate cancer. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009774 | 703 | S → A in AIS. | 1 | |
| Natural variantiVAR_009775 | 704 | S → C in AIS. | 1 | |
| Natural variantiVAR_004693 | 704 | S → G in PAIS and AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009776 | 706 | N → S in AIS. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_013475 | 706 | N → Y in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004694 | 708 | L → R in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009778 | 709 | G → V in AIS. | 1 | |
| Natural variantiVAR_009779 | 711 | R → T in AIS. | 1 | |
| Natural variantiVAR_009785 | 723 | L → F in AIS. | 1 | |
| Natural variantiVAR_009786 | 724 | P → S in AIS. | 1 | |
| Natural variantiVAR_009787 | 725 | G → D in AIS and prostate cancer. | 1 | |
| Natural variantiVAR_009790 | 728 | N → K in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004696 | 733 | D → N in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004697 | 733 | D → Y in AIS. | 1 | |
| Natural variantiVAR_009794 | 742 | W → R in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_013477 | 744 | G → E in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004699 | 744 | G → V in PAIS and AIS. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009796 | 745 | L → F in AIS and prostate cancer. | 1 | |
| Natural variantiVAR_004700 | 750 | M → V in PAIS and AIS. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004701 | 751 | G → D in AIS; loss of androgen binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009804 | 752 | W → R in AIS. | 1 | |
| Natural variantiVAR_004702 | 753 | R → Q in AIS. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004703 | 755 | F → V in AIS. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009810 | 760 | S → F in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004704 | 763 | L → F in AIS; loss of androgen binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009812 | 764 | Y → H in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009813 | 765 | F → L in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004707 | 766 | A → T in AIS; loss of androgen binding. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009814 | 766 | A → V in AIS. | 1 | |
| Natural variantiVAR_009815 | 767 | P → S in AIS. | 1 | |
| Natural variantiVAR_009816 | 768 | D → E in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009817 | 769 | L → P in AIS. | 1 | |
| Natural variantiVAR_004709 | 775 | R → C in AIS; frequent mutation; loss of androgen binding. 5 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004708 | 775 | R → H in AIS and PAIS; almost complete loss of androgen binding. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004710 | 780 | R → W in AIS. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004711 | 781 | M → I in PAIS and AIS. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004712 | 785 | C → Y in AIS; loss of androgen binding and of transactivation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004713 | 788 | M → V in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009822 | 789 | R → S in AIS. Corresponds to variant dbSNP:rs1254203917Ensembl. | 1 | |
| Natural variantiVAR_009823 | 791 | L → F in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004714 | 795 | F → S in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004716 | 808 | M → R in AIS; loss of transactivation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004717 | 808 | M → V in AIS; 25% androgen binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009828 | 813 | L → F in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004718 | 815 | S → N in AIS and PAIS. | 1 | |
| Natural variantiVAR_009829 | 821 | G → A in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004719 | 832 | R → L in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004720 | 832 | R → Q in AIS; loss of androgen binding. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009832 | 835 | Y → C in AIS; loss of androgen binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004721 | 841 | R → C in AIS. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004723 | 841 | R → H in AIS. 7 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004724 | 843 | I → T in AIS. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004725 | 856 | R → C in AIS. 5 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004726 | 856 | R → H in AIS; strongly reduced transcription activation. 5 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009836 | 857 | F → L in AIS. Corresponds to variant dbSNP:rs137852598EnsemblClinVar. | 1 | |
| Natural variantiVAR_009837 | 864 | L → R in AIS. | 1 | |
| Natural variantiVAR_009838 | 865 | D → G in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004727 | 865 | D → N in AIS; loss of androgen binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009839 | 866 | S → P in AIS. Corresponds to variant dbSNP:rs137852597EnsemblClinVar. | 1 | |
| Natural variantiVAR_004728 | 867 | V → E in AIS. | 1 | |
| Natural variantiVAR_004730 | 867 | V → M in AIS and prostate cancer. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009842 | 872 | R → G in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_013479 | 875 | H → R in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_013480 | 880 | D → Y in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009846 | 882 | L → V in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009847 | 887 | M → V in AIS. Corresponds to variant dbSNP:rs755226547EnsemblClinVar. | 1 | |
| Natural variantiVAR_009848 | 890 | V → M in AIS and PAIS. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004733 | 893 | P → L in AIS. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004734 | 896 | M → T in AIS; low androgen binding and transactivation. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009852 | 899 | I → T in AIS. Corresponds to variant dbSNP:rs1555998105EnsemblClinVar. | 1 | |
| Natural variantiVAR_009855 | 905 | P → H in AIS. | 1 | |
| Natural variantiVAR_009856 | 905 | P → S in AIS. | 1 | |
| Natural variantiVAR_004735 | 908 | L → F in AIS; almost complete loss of transcription activation. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009861 | 917 | F → L in AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009862 | 918 | H → R in AIS. | 1 |
Spinal and bulbar muscular atrophy X-linked 1 (SMAX1)1 PublicationManual assertion based on experiment ini
- Ref.203"A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy."
Echaniz-Laguna A., Rousso E., Anheim M., Cossee M., Tranchant C.
Neurology 64:1458-1460(2005) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN SMAX1.
Ref.203
"A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy."
Echaniz-Laguna A., Rousso E., Anheim M., Cossee M., Tranchant C.
Neurology 64:1458-1460(2005) [PubMed] [Europe PMC] [Abstract]
Echaniz-Laguna A., Rousso E., Anheim M., Cossee M., Tranchant C.
Neurology 64:1458-1460(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SMAX1.
The disease is caused by mutations affecting the gene represented in this entry. Caused by trinucleotide CAG repeat expansion. In SMAX1 patients the number of Gln ranges from 38 to 62. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.
Disease descriptionAn X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy.
Related information in OMIMDefects in AR may play a role in metastatic prostate cancer. The mutated receptor stimulates prostate growth and metastases development despite of androgen ablation. This treatment can reduce primary and metastatic lesions probably by inducing apoptosis of tumor cells when they express the wild-type receptor.10 Publications
Manual assertion based on experiment ini
- Ref.65"Structural basis for accommodation of nonsteroidal ligands in the androgen receptor."
Bohl C.E., Miller D.D., Chen J., Bell C.E., Dalton J.T.
J. Biol. Chem. 280:37747-37754(2005) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 665-920 IN COMPLEXES WITH NONSTEROIDAL LIGANDS, MUTAGENESIS OF TRP-742, CHARACTERIZATION OF VARIANT PROSTATE CANCER ALA-878, CHARACTERIZATION OF VARIANT AIS THR-896. - Ref.68"Crystal structure of the T877A human androgen receptor ligand-binding domain complexed to cyproterone acetate provides insight for ligand-induced conformational changes and structure-based drug design."
Bohl C.E., Wu Z., Miller D.D., Bell C.E., Dalton J.T.
J. Biol. Chem. 282:13648-13655(2007) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 671-919 OF MUTANT ALA-878 IN COMPLEX WITH THE ANTIANDROGEN CYPROTERONE ACETATE, CHARACTERIZATION OF VARIANT PROSTATE CANCER ALA-878, MUTAGENESIS OF LEU-702. - Ref.72"Identification of a new androgen receptor (AR) co-regulator BUD31 and related peptides to suppress wild-type and mutated AR-mediated prostate cancer growth via peptide screening and X-ray structure analysis."
Hsu C.L., Liu J.S., Wu P.L., Guan H.H., Chen Y.L., Lin A.C., Ting H.J., Pang S.T., Yeh S.D., Ma W.L., Chen C.J., Wu W.G., Chang C.
Mol. Oncol. 8:1575-1587(2014) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (1.42 ANGSTROMS) OF 671-920 OF WILD-TYPE AND VARIANT PROSTATE CANCER ALA-878 IN COMPLEX WITH DIHYDROTESTOSTERONE AND BUD31 PEPTIDES, INTERACTION WITH BUD31, FUNCTION, SUBCELLULAR LOCATION, DOMAIN. - Ref.80"A mutation in the ligand binding domain of the androgen receptor of human LNCaP cells affects steroid binding characteristics and response to anti-androgens."
Veldscholte J., Ris-Stalpers C., Kuiper G.G.J.M., Jenster G., Berrevoets C.A., Claassen E., van Rooij H.C.J., Trapman J., Brinkmann A.O., Mulder E.
Biochem. Biophys. Res. Commun. 173:534-540(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT LNCAP ALA-878. - Ref.94"The androgen receptor in LNCaP cells contains a mutation in the ligand binding domain which affects steroid binding characteristics and response to antiandrogens."
Veldscholte J., Berrevoets C.A., Ris-Stalpers C., Kuiper G.G.J.M., Jenster G., Trapman J., Brinkmann A.O., Mulder E.
J. Steroid Biochem. Mol. Biol. 41:665-669(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PROSTATE CANCER ALA-878. - Ref.108"Androgen receptor gene mutations in human prostate cancer."
Suzuki H., Sato N., Watabe Y., Masai M., Seino S., Shimazaki J.
J. Steroid Biochem. Mol. Biol. 46:759-765(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PROSTATE CANCER HIS-702 AND ALA-878. - Ref.114"Frequent detection of codon 877 mutation in the androgen receptor gene in advanced prostate cancers."
Gaddipati J.P., McLeod D.G., Heidenberg H.B., Sesterhenn I.A., Finger M.J., Moul J.W., Srivastava S.
Cancer Res. 54:2861-2864(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PROSTATE CANCER ALA-878. - Ref.155"Codon 877 mutation in the androgen receptor gene in advanced prostate cancer: relation to antiandrogen withdrawal syndrome."
Suzuki H., Akakura K., Komiya A., Aida S., Akimoto S., Shimazaki J.
Prostate 29:153-158(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PROSTATE CANCER ALA-878. - Ref.183"Selection for androgen receptor mutations in prostate cancers treated with androgen antagonist."
Taplin M.-E., Bubley G.J., Ko Y.J., Small E.J., Upton M., Rajeshkumar B., Balk S.P.
Cancer Res. 59:2511-2515(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PROSTATE CANCER ALA-878 AND ASN-891. - Ref.190"Two mutations identified in the androgen receptor of the new human prostate cancer cell line MDA PCa 2a."
Zhao X.Y., Boyle B., Krishnan A.V., Navone N.M., Peehl D.M., Feldman D.
J. Urol. 162:2192-2199(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PROSTATE CANCER HIS-702 AND ALA-878.
Androgen insensitivity, partial (PAIS)42 PublicationsManual assertion based on experiment ini
- Ref.84"Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy."
McPhaul M.J., Marcelli M., Tilley W.D., Griffin J.E., Isidro-Gutierrez R.F., Wilson J.D.
J. Clin. Invest. 87:1413-1421(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS CYS-764. - Ref.87"Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome."
Saunders P.T., Padayachi T., Tincello D.G., Shalet S.M., Wu F.C.
Clin. Endocrinol. (Oxf.) 37:214-220(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS LYS-609 AND LEU-867. - Ref.90"Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome."
Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 1:497-503(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.93"Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene."
McPhaul M.J., Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., Wilson J.D.
J. Clin. Invest. 90:2097-2101(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.95"Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance."
Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D., McPhaul M.J.
Mol. Endocrinol. 6:409-415(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS TYR-560 AND ARG-577, VARIANTS PAIS GLY-598 AND PRO-618. - Ref.97"A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome."
Wooster R., Mangion J., Eeles R., Smith S., Dowsett M., Averill D., Barrett-Lee P., Easton D.F., Ponder B.A., Stratton M.R.
Nat. Genet. 2:132-134(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS/BREAST CANCER GLN-608. - Ref.102"Androgen receptor gene mutation in male breast cancer."
Lobaccaro J.-M., Lumbroso S., Belon C., Galtier-Dereure F., Bringer J., Lesimple T., Namer M., Cutuli B.F., Pujol H., Sultan C.
Hum. Mol. Genet. 2:1799-1802(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS/BREAST CANCER LYS-609. - Ref.104"A single amino acid substitution (Gly743 --> Val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome."
Nakao R., Yanase T., Sakai Y., Haji M., Nawata H.
J. Clin. Endocrinol. Metab. 77:103-107(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS VAL-744. - Ref.105"Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy."
Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K., Wolfe H.J., Yandell D.W.
J. Clin. Endocrinol. Metab. 77:262-266(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS LYS-682 AND THR-843, VARIANTS PAIS HIS-841 AND LEU-867. - Ref.106"Mutations of the androgen receptor gene identified in perineal hypospadias."
Batch J.A., Evans B.A.J., Hughes I.A., Patterson M.N.
J. Med. Genet. 30:198-201(1993) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN PAIS, INVOLVEMENT IN HYSP1, VARIANTS PAIS HIS-856 AND MET-870. - Ref.109"Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes."
Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P., Sheppard P., Matusik R., Pinsky L.
Mol. Endocrinol. 7:37-46(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS MET-867, VARIANT PAIS LEU-867. - Ref.115"Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene."
Lobaccaro J.-M., Belon C., Lumbroso S., Olewniczack G., Carre-Pigeon F., Job J.C., Chaussain J.L., Toublanc J.E., Sultan C.
Clin. Endocrinol. (Oxf.) 40:297-302(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS TRP-569. - Ref.116"Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)."
Lumbroso S., Lobaccaro J.-M., Belon C., Amram S., Bachelard B., Garandeau P., Sultan C.
Eur. J. Endocrinol. 130:327-332(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS HIS-841. - Ref.117"Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor."
Imasaki K., Hasegawa T., Okabe T., Sakai Y., Haji M., Takayanagi R., Nawata H.
Eur. J. Endocrinol. 130:569-574(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS HIS-841. - Ref.118"Molecular characterization of the androgen receptor gene in boys with hypospadias."
Hiort O., Klauber G., Cendron M., Sinnecker G.H., Keim L., Schwinger E., Wolfe H.J., Yandell D.W.
Eur. J. Pediatr. 153:317-321(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS VAL-871. - Ref.119"Partial androgen insensitivity (PAIS) in a large eskimo kindred caused by a delD690 mutation in the androgen receptor (AR) gene (Abstract #244)."
Schwartz M., Skovby F., Mueller J., Nielsen O., Skakkebaek N.E.
Horm. Res. 41:117-117(1994)Cited for: VARIANT PAIS ASP-691 DEL. - Ref.121"Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis."
Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.
Hum. Mol. Genet. 3:1163-1166(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS SER-583; TYR-605; ALA-709; LEU-755 AND HIS-772, VARIANT AIS TRP-780. - Ref.123"Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome."
De Bellis A., Quigley C.A., Marschke K.B., el-Awady M.K., Lane M.V., Smith E.P., Sar M., Wilson E.M., French F.S.
J. Clin. Endocrinol. Metab. 78:513-522(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS ARG-617; HIS-841 AND MET-890. - Ref.126"Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex."
Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.
J. Clin. Invest. 94:1642-1650(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS, VARIANTS PAIS. - Ref.128"A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity."
Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M., Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J., Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.
Pediatr. Res. 36:227-234(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS HIS-616 AND LEU-765, VARIANTS PAIS VAL-743 AND THR-746. - Ref.132"Androgen receptor defects: historical, clinical, and molecular perspectives."
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S.
Endocr. Rev. 16:271-321(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS SER-706 AND HIS-764, VARIANTS PAIS LEU-726; THR-738; HIS-775 AND GLU-799. - Ref.135"Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain."
Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J., Brown T.R.
Hum. Mutat. 6:152-162(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS CYS-764, VARIANTS AIS TRP-780; VAL-808 AND CYS-856. - Ref.139"A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome."
Gast A., Neuschmid-Kaspar F., Klocker H., Cato A.C.B.
Mol. Cell. Endocrinol. 111:93-98(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS THR-597. - Ref.143"Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene."
Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G., Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.
Clin. Endocrinol. (Oxf.) 45:733-739(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS GLN-608; THR-611; LEU-755; HIS-841; THR-843 AND HIS-856, VARIANT AIS MET-867. - Ref.145"Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome."
Bevan C.L., Brown B.B., Davies H.R., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 5:265-273(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS ILE-743; ILE-781; GLU-799; CYS-841; HIS-856 AND MET-870. - Ref.146"Partial androgen insensitivity caused by an androgen receptor mutation at amino acid 907 (Gly-->Arg) that results in decreased ligand binding affinity and reduced androgen receptor messenger ribonucleic acid levels."
Choong C.S., Sturm M.J., Strophair J.A., McCulloch R.K., Tilley W.D., Leedman P.J., Hurley D.M.
J. Clin. Endocrinol. Metab. 81:236-243(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS ARG-910. - Ref.149"A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation."
Choong C.S., Quigley C.A., French F.S., Wilson E.M.
J. Clin. Invest. 98:1423-1431(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS LYS-2. - Ref.153"Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor."
Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R., Nawata H.
Mol. Cell. Endocrinol. 120:15-24(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-580, VARIANT PAIS TYR-583. - Ref.158"Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome."
Tincello D.G., Saunders P.T., Hodgins M.B., Simpson N.B., Edwards C.R., Hargreaves T.B., Wu F.C.
Clin. Endocrinol. (Oxf.) 46:497-506(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS LYS-609 AND GLY-773. - Ref.165"Etiologic classification of severe hypospadias: implications for prognosis and management."
Albers N., Ulrichs C., Gluer S., Hiort O., Sinnecker G.H., Mildenberger H., Brodehl J.
J. Pediatr. 131:386-392(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS ALA-709 AND GLY-871. - Ref.168"Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome."
Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G., Klocker H.
J. Urol. 158:1553-1556(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS GLY-704, VARIANT AIS LEU-917. - Ref.173"Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome."
Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B., Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A., Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.
Hum. Genet. 103:529-531(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AIS THR-766; TYR-785 AND THR-896, VARIANT PAIS GLY-841. - Ref.177"Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor."
Weidemann W., Peters B., Romalo G., Spindler K.D., Schweikert H.-U.
J. Clin. Endocrinol. Metab. 83:1173-1176(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS GLN-608. - Ref.178"Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome."
Georget V., Terouanne B., Lumbroso S., Nicolas J.C., Sultan C.
J. Clin. Endocrinol. Metab. 83:3597-3603(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS VAL-744 AND CYS-841. - Ref.181"Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain."
Yong E.L., Tut T.G., Ghadessy F.J., Prins G., Ratnam S.S.
Mol. Cell. Endocrinol. 137:41-50(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS THR-759. - Ref.182"A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia."
Knoke I., Jakubiczka S., Lehnert H., Wieacker P.
Andrologia 31:199-201(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS LEU-912. - Ref.184"A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome."
Melo K.F.S., Latronico A.C., Costa E.M.F., Billerbeck A.E.C., Mendonca B.B., Arnhold I.J.P.
Hum. Mutat. 14:353-353(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS SER-841. - Ref.186"Androgen receptor gene mutations in 46,XY females with germ cell tumours."
Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.
Hum. Reprod. 14:664-670(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS GLN-608, VARIANT AIS LYS-682. - Ref.188"Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively."
Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L., Pinsky L., Trifiro M.A.
J. Clin. Endocrinol. Metab. 84:805-810(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS ALA-773, VARIANT AIS GLY-872. - Ref.191"Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation."
Ong Y.C., Wong H.B., Adaikan G., Yong E.L.
Lancet 354:1444-1445(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PAIS THR-808. - Ref.199"Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome."
Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.
J. Hum. Genet. 46:560-565(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PAIS THR-683 AND GLU-712, VARIANTS AIS GLU-744; VAL-828; ARG-875 AND TYR-880. - Ref.204"Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor."
Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., Japp K., Karaviti L.P.
Clin. Genet. 65:183-190(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AIS PHE-577.
Ref.84
"Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy."
McPhaul M.J., Marcelli M., Tilley W.D., Griffin J.E., Isidro-Gutierrez R.F., Wilson J.D.
J. Clin. Invest. 87:1413-1421(1991) [PubMed] [Europe PMC] [Abstract]
McPhaul M.J., Marcelli M., Tilley W.D., Griffin J.E., Isidro-Gutierrez R.F., Wilson J.D.
J. Clin. Invest. 87:1413-1421(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS CYS-764.
Ref.87
"Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome."
Saunders P.T., Padayachi T., Tincello D.G., Shalet S.M., Wu F.C.
Clin. Endocrinol. (Oxf.) 37:214-220(1992) [PubMed] [Europe PMC] [Abstract]
Saunders P.T., Padayachi T., Tincello D.G., Shalet S.M., Wu F.C.
Clin. Endocrinol. (Oxf.) 37:214-220(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS LYS-609 AND LEU-867.
Ref.90
"Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome."
Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 1:497-503(1992) [PubMed] [Europe PMC] [Abstract]
Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 1:497-503(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS, VARIANTS PAIS.
Ref.93
"Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene."
McPhaul M.J., Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., Wilson J.D.
J. Clin. Invest. 90:2097-2101(1992) [PubMed] [Europe PMC] [Abstract]
McPhaul M.J., Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., Wilson J.D.
J. Clin. Invest. 90:2097-2101(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS, VARIANTS PAIS.
Ref.95
"Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance."
Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D., McPhaul M.J.
Mol. Endocrinol. 6:409-415(1992) [PubMed] [Europe PMC] [Abstract]
Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D., McPhaul M.J.
Mol. Endocrinol. 6:409-415(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS TYR-560 AND ARG-577, VARIANTS PAIS GLY-598 AND PRO-618.
Ref.97
"A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome."
Wooster R., Mangion J., Eeles R., Smith S., Dowsett M., Averill D., Barrett-Lee P., Easton D.F., Ponder B.A., Stratton M.R.
Nat. Genet. 2:132-134(1992) [PubMed] [Europe PMC] [Abstract]
Wooster R., Mangion J., Eeles R., Smith S., Dowsett M., Averill D., Barrett-Lee P., Easton D.F., Ponder B.A., Stratton M.R.
Nat. Genet. 2:132-134(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS/BREAST CANCER GLN-608.
Ref.102
"Androgen receptor gene mutation in male breast cancer."
Lobaccaro J.-M., Lumbroso S., Belon C., Galtier-Dereure F., Bringer J., Lesimple T., Namer M., Cutuli B.F., Pujol H., Sultan C.
Hum. Mol. Genet. 2:1799-1802(1993) [PubMed] [Europe PMC] [Abstract]
Lobaccaro J.-M., Lumbroso S., Belon C., Galtier-Dereure F., Bringer J., Lesimple T., Namer M., Cutuli B.F., Pujol H., Sultan C.
Hum. Mol. Genet. 2:1799-1802(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS/BREAST CANCER LYS-609.
Ref.104
"A single amino acid substitution (Gly743 --> Val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome."
Nakao R., Yanase T., Sakai Y., Haji M., Nawata H.
J. Clin. Endocrinol. Metab. 77:103-107(1993) [PubMed] [Europe PMC] [Abstract]
Nakao R., Yanase T., Sakai Y., Haji M., Nawata H.
J. Clin. Endocrinol. Metab. 77:103-107(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS VAL-744.
Ref.105
"Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy."
Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K., Wolfe H.J., Yandell D.W.
J. Clin. Endocrinol. Metab. 77:262-266(1993) [PubMed] [Europe PMC] [Abstract]
Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K., Wolfe H.J., Yandell D.W.
J. Clin. Endocrinol. Metab. 77:262-266(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS LYS-682 AND THR-843, VARIANTS PAIS HIS-841 AND LEU-867.
Ref.106
"Mutations of the androgen receptor gene identified in perineal hypospadias."
Batch J.A., Evans B.A.J., Hughes I.A., Patterson M.N.
J. Med. Genet. 30:198-201(1993) [PubMed] [Europe PMC] [Abstract]
Batch J.A., Evans B.A.J., Hughes I.A., Patterson M.N.
J. Med. Genet. 30:198-201(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PAIS, INVOLVEMENT IN HYSP1, VARIANTS PAIS HIS-856 AND MET-870.
Ref.109
"Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes."
Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P., Sheppard P., Matusik R., Pinsky L.
Mol. Endocrinol. 7:37-46(1993) [PubMed] [Europe PMC] [Abstract]
Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P., Sheppard P., Matusik R., Pinsky L.
Mol. Endocrinol. 7:37-46(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS MET-867, VARIANT PAIS LEU-867.
Ref.115
"Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene."
Lobaccaro J.-M., Belon C., Lumbroso S., Olewniczack G., Carre-Pigeon F., Job J.C., Chaussain J.L., Toublanc J.E., Sultan C.
Clin. Endocrinol. (Oxf.) 40:297-302(1994) [PubMed] [Europe PMC] [Abstract]
Lobaccaro J.-M., Belon C., Lumbroso S., Olewniczack G., Carre-Pigeon F., Job J.C., Chaussain J.L., Toublanc J.E., Sultan C.
Clin. Endocrinol. (Oxf.) 40:297-302(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS TRP-569.
Ref.116
"Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)."
Lumbroso S., Lobaccaro J.-M., Belon C., Amram S., Bachelard B., Garandeau P., Sultan C.
Eur. J. Endocrinol. 130:327-332(1994) [PubMed] [Europe PMC] [Abstract]
Lumbroso S., Lobaccaro J.-M., Belon C., Amram S., Bachelard B., Garandeau P., Sultan C.
Eur. J. Endocrinol. 130:327-332(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS HIS-841.
Ref.117
"Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor."
Imasaki K., Hasegawa T., Okabe T., Sakai Y., Haji M., Takayanagi R., Nawata H.
Eur. J. Endocrinol. 130:569-574(1994) [PubMed] [Europe PMC] [Abstract]
Imasaki K., Hasegawa T., Okabe T., Sakai Y., Haji M., Takayanagi R., Nawata H.
Eur. J. Endocrinol. 130:569-574(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS HIS-841.
Ref.118
"Molecular characterization of the androgen receptor gene in boys with hypospadias."
Hiort O., Klauber G., Cendron M., Sinnecker G.H., Keim L., Schwinger E., Wolfe H.J., Yandell D.W.
Eur. J. Pediatr. 153:317-321(1994) [PubMed] [Europe PMC] [Abstract]
Hiort O., Klauber G., Cendron M., Sinnecker G.H., Keim L., Schwinger E., Wolfe H.J., Yandell D.W.
Eur. J. Pediatr. 153:317-321(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS VAL-871.
Ref.119
"Partial androgen insensitivity (PAIS) in a large eskimo kindred caused by a delD690 mutation in the androgen receptor (AR) gene (Abstract #244)."
Schwartz M., Skovby F., Mueller J., Nielsen O., Skakkebaek N.E.
Horm. Res. 41:117-117(1994)
Schwartz M., Skovby F., Mueller J., Nielsen O., Skakkebaek N.E.
Horm. Res. 41:117-117(1994)
Cited for: VARIANT PAIS ASP-691 DEL.
Ref.121
"Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis."
Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.
Hum. Mol. Genet. 3:1163-1166(1994) [PubMed] [Europe PMC] [Abstract]
Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.
Hum. Mol. Genet. 3:1163-1166(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS SER-583; TYR-605; ALA-709; LEU-755 AND HIS-772, VARIANT AIS TRP-780.
Ref.123
"Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome."
De Bellis A., Quigley C.A., Marschke K.B., el-Awady M.K., Lane M.V., Smith E.P., Sar M., Wilson E.M., French F.S.
J. Clin. Endocrinol. Metab. 78:513-522(1994) [PubMed] [Europe PMC] [Abstract]
De Bellis A., Quigley C.A., Marschke K.B., el-Awady M.K., Lane M.V., Smith E.P., Sar M., Wilson E.M., French F.S.
J. Clin. Endocrinol. Metab. 78:513-522(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS ARG-617; HIS-841 AND MET-890.
Ref.126
"Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex."
Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.
J. Clin. Invest. 94:1642-1650(1994) [PubMed] [Europe PMC] [Abstract]
Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.
J. Clin. Invest. 94:1642-1650(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS, VARIANTS PAIS.
Ref.128
"A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity."
Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M., Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J., Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.
Pediatr. Res. 36:227-234(1994) [PubMed] [Europe PMC] [Abstract]
Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M., Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J., Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.
Pediatr. Res. 36:227-234(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS HIS-616 AND LEU-765, VARIANTS PAIS VAL-743 AND THR-746.
Ref.132
"Androgen receptor defects: historical, clinical, and molecular perspectives."
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S.
Endocr. Rev. 16:271-321(1995) [PubMed] [Europe PMC] [Abstract]
Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M., French F.S.
Endocr. Rev. 16:271-321(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS SER-706 AND HIS-764, VARIANTS PAIS LEU-726; THR-738; HIS-775 AND GLU-799.
Ref.135
"Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain."
Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J., Brown T.R.
Hum. Mutat. 6:152-162(1995) [PubMed] [Europe PMC] [Abstract]
Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J., Brown T.R.
Hum. Mutat. 6:152-162(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS CYS-764, VARIANTS AIS TRP-780; VAL-808 AND CYS-856.
Ref.139
"A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome."
Gast A., Neuschmid-Kaspar F., Klocker H., Cato A.C.B.
Mol. Cell. Endocrinol. 111:93-98(1995) [PubMed] [Europe PMC] [Abstract]
Gast A., Neuschmid-Kaspar F., Klocker H., Cato A.C.B.
Mol. Cell. Endocrinol. 111:93-98(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS THR-597.
Ref.143
"Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene."
Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G., Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.
Clin. Endocrinol. (Oxf.) 45:733-739(1996) [PubMed] [Europe PMC] [Abstract]
Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G., Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.
Clin. Endocrinol. (Oxf.) 45:733-739(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS GLN-608; THR-611; LEU-755; HIS-841; THR-843 AND HIS-856, VARIANT AIS MET-867.
Ref.145
"Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome."
Bevan C.L., Brown B.B., Davies H.R., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 5:265-273(1996) [PubMed] [Europe PMC] [Abstract]
Bevan C.L., Brown B.B., Davies H.R., Evans B.A.J., Hughes I.A., Patterson M.N.
Hum. Mol. Genet. 5:265-273(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS ILE-743; ILE-781; GLU-799; CYS-841; HIS-856 AND MET-870.
Ref.146
"Partial androgen insensitivity caused by an androgen receptor mutation at amino acid 907 (Gly-->Arg) that results in decreased ligand binding affinity and reduced androgen receptor messenger ribonucleic acid levels."
Choong C.S., Sturm M.J., Strophair J.A., McCulloch R.K., Tilley W.D., Leedman P.J., Hurley D.M.
J. Clin. Endocrinol. Metab. 81:236-243(1996) [PubMed] [Europe PMC] [Abstract]
Choong C.S., Sturm M.J., Strophair J.A., McCulloch R.K., Tilley W.D., Leedman P.J., Hurley D.M.
J. Clin. Endocrinol. Metab. 81:236-243(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS ARG-910.
Ref.149
"A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation."
Choong C.S., Quigley C.A., French F.S., Wilson E.M.
J. Clin. Invest. 98:1423-1431(1996) [PubMed] [Europe PMC] [Abstract]
Choong C.S., Quigley C.A., French F.S., Wilson E.M.
J. Clin. Invest. 98:1423-1431(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS LYS-2.
Ref.153
"Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor."
Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R., Nawata H.
Mol. Cell. Endocrinol. 120:15-24(1996) [PubMed] [Europe PMC] [Abstract]
Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R., Nawata H.
Mol. Cell. Endocrinol. 120:15-24(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS PHE-580, VARIANT PAIS TYR-583.
Ref.158
"Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome."
Tincello D.G., Saunders P.T., Hodgins M.B., Simpson N.B., Edwards C.R., Hargreaves T.B., Wu F.C.
Clin. Endocrinol. (Oxf.) 46:497-506(1997) [PubMed] [Europe PMC] [Abstract]
Tincello D.G., Saunders P.T., Hodgins M.B., Simpson N.B., Edwards C.R., Hargreaves T.B., Wu F.C.
Clin. Endocrinol. (Oxf.) 46:497-506(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS LYS-609 AND GLY-773.
Ref.165
"Etiologic classification of severe hypospadias: implications for prognosis and management."
Albers N., Ulrichs C., Gluer S., Hiort O., Sinnecker G.H., Mildenberger H., Brodehl J.
J. Pediatr. 131:386-392(1997) [PubMed] [Europe PMC] [Abstract]
Albers N., Ulrichs C., Gluer S., Hiort O., Sinnecker G.H., Mildenberger H., Brodehl J.
J. Pediatr. 131:386-392(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS ALA-709 AND GLY-871.
Ref.168
"Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome."
Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G., Klocker H.
J. Urol. 158:1553-1556(1997) [PubMed] [Europe PMC] [Abstract]
Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G., Klocker H.
J. Urol. 158:1553-1556(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS GLY-704, VARIANT AIS LEU-917.
Ref.173
"Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome."
Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B., Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A., Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.
Hum. Genet. 103:529-531(1998) [PubMed] [Europe PMC] [Abstract]
Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B., Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A., Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.
Hum. Genet. 103:529-531(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AIS THR-766; TYR-785 AND THR-896, VARIANT PAIS GLY-841.
Ref.177
"Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor."
Weidemann W., Peters B., Romalo G., Spindler K.D., Schweikert H.-U.
J. Clin. Endocrinol. Metab. 83:1173-1176(1998) [PubMed] [Europe PMC] [Abstract]
Weidemann W., Peters B., Romalo G., Spindler K.D., Schweikert H.-U.
J. Clin. Endocrinol. Metab. 83:1173-1176(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS GLN-608.
Ref.178
"Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome."
Georget V., Terouanne B., Lumbroso S., Nicolas J.C., Sultan C.
J. Clin. Endocrinol. Metab. 83:3597-3603(1998) [PubMed] [Europe PMC] [Abstract]
Georget V., Terouanne B., Lumbroso S., Nicolas J.C., Sultan C.
J. Clin. Endocrinol. Metab. 83:3597-3603(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS VAL-744 AND CYS-841.
Ref.181
"Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain."
Yong E.L., Tut T.G., Ghadessy F.J., Prins G., Ratnam S.S.
Mol. Cell. Endocrinol. 137:41-50(1998) [PubMed] [Europe PMC] [Abstract]
Yong E.L., Tut T.G., Ghadessy F.J., Prins G., Ratnam S.S.
Mol. Cell. Endocrinol. 137:41-50(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS THR-759.
Ref.182
"A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia."
Knoke I., Jakubiczka S., Lehnert H., Wieacker P.
Andrologia 31:199-201(1999) [PubMed] [Europe PMC] [Abstract]
Knoke I., Jakubiczka S., Lehnert H., Wieacker P.
Andrologia 31:199-201(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS LEU-912.
Ref.184
"A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome."
Melo K.F.S., Latronico A.C., Costa E.M.F., Billerbeck A.E.C., Mendonca B.B., Arnhold I.J.P.
Hum. Mutat. 14:353-353(1999) [PubMed] [Europe PMC] [Abstract]
Melo K.F.S., Latronico A.C., Costa E.M.F., Billerbeck A.E.C., Mendonca B.B., Arnhold I.J.P.
Hum. Mutat. 14:353-353(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS SER-841.
Ref.186
"Androgen receptor gene mutations in 46,XY females with germ cell tumours."
Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.
Hum. Reprod. 14:664-670(1999) [PubMed] [Europe PMC] [Abstract]
Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.
Hum. Reprod. 14:664-670(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS GLN-608, VARIANT AIS LYS-682.
Ref.188
"Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively."
Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L., Pinsky L., Trifiro M.A.
J. Clin. Endocrinol. Metab. 84:805-810(1999) [PubMed] [Europe PMC] [Abstract]
Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L., Pinsky L., Trifiro M.A.
J. Clin. Endocrinol. Metab. 84:805-810(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS ALA-773, VARIANT AIS GLY-872.
Ref.191
"Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation."
Ong Y.C., Wong H.B., Adaikan G., Yong E.L.
Lancet 354:1444-1445(1999) [PubMed] [Europe PMC] [Abstract]
Ong Y.C., Wong H.B., Adaikan G., Yong E.L.
Lancet 354:1444-1445(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PAIS THR-808.
Ref.199
"Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome."
Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.
J. Hum. Genet. 46:560-565(2001) [PubMed] [Europe PMC] [Abstract]
Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.
J. Hum. Genet. 46:560-565(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PAIS THR-683 AND GLU-712, VARIANTS AIS GLU-744; VAL-828; ARG-875 AND TYR-880.
Ref.204
"Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor."
Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., Japp K., Karaviti L.P.
Clin. Genet. 65:183-190(2004) [PubMed] [Europe PMC] [Abstract]
Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., Japp K., Karaviti L.P.
Clin. Genet. 65:183-190(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIS PHE-577.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations.
Related information in OMIM| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_004679 | 2 | E → K in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009721 | 548 | L → F in PAIS. Corresponds to variant dbSNP:rs139524801Ensembl. | 1 | |
| Natural variantiVAR_009726 | 569 | G → W in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009737 | 583 | F → S in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009738 | 583 | F → Y in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009744 | 598 | S → G in PAIS; associated with P-618 in a PAIS patient; normal androgen binding; does not activate transcription; impairs DNA binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009747 | 605 | D → Y in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004684 | 608 | R → Q in PAIS and breast cancer. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004685 | 609 | R → K in PAIS and breast cancer; defective nuclear localization. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009748 | 611 | N → T in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009751 | 616 | R → H in AIS and PAIS. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009754 | 617 | L → R in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009755 | 618 | R → P in AIS and PAIS; associated with G-598 in a PAIS patient; loss of DNA-binding activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004687 | 665 | I → N in AIS and PAIS. | 1 | |
| Natural variantiVAR_009762 | 672 | P → H in PAIS. | 1 | |
| Natural variantiVAR_013474 | 683 | P → T in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009767 | 687 | C → R in PAIS. | 1 | |
| Natural variantiVAR_009768 | 688 | A → V in PAIS. | 1 | |
| Natural variantiVAR_009770 | 691 | Missing in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004693 | 704 | S → G in PAIS and AIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009777 | 709 | G → A in PAIS. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_013476 | 712 | Q → E in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009780 | 713 | L → F in PAIS. Corresponds to variant dbSNP:rs137852595EnsemblClinVar. | 1 | |
| Natural variantiVAR_009791 | 729 | L → S in PAIS. | 1 | |
| Natural variantiVAR_009792 | 734 | Q → H in PAIS. | 1 | |
| Natural variantiVAR_009793 | 738 | I → T in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004698 | 743 | M → I in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009795 | 743 | M → V in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004699 | 744 | G → V in PAIS and AIS. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009797 | 746 | M → T in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009798 | 747 | V → M in PAIS. | 1 | |
| Natural variantiVAR_009799 | 749 | A → D in PAIS. | 1 | |
| Natural variantiVAR_004700 | 750 | M → V in PAIS and AIS. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009805 | 755 | F → L in PAIS and prostate cancer. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009807 | 757 | N → S in PAIS. Corresponds to variant dbSNP:rs141425171Ensembl. | 1 | |
| Natural variantiVAR_009809 | 759 | N → T in PAIS; 50% reduction in transactivation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004705 | 764 | Y → C in PAIS and prostate cancer; partial loss of androgen binding. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009818 | 772 | N → H in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009819 | 773 | E → A in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009820 | 773 | E → G in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004708 | 775 | R → H in AIS and PAIS; almost complete loss of androgen binding. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004711 | 781 | M → I in PAIS and AIS. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004715 | 799 | Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 6 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009826 | 807 | C → Y in PAIS. Corresponds to variant dbSNP:rs1064793480EnsemblClinVar. | 1 | |
| Natural variantiVAR_009827 | 808 | M → T in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004718 | 815 | S → N in AIS and PAIS. | 1 | |
| Natural variantiVAR_009830 | 822 | L → V in PAIS. | 1 | |
| Natural variantiVAR_013478 | 828 | F → V in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004722 | 841 | R → G in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009229 | 841 | R → S in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009833 | 842 | I → S in PAIS. | 1 | |
| Natural variantiVAR_009835 | 855 | R → K in PAIS. | 1 | |
| Natural variantiVAR_004729 | 867 | V → L in PAIS. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004731 | 870 | I → M in PAIS. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009840 | 871 | A → G in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009841 | 871 | A → V in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009848 | 890 | V → M in AIS and PAIS. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009854 | 904 | V → M in PAIS. | 1 | |
| Natural variantiVAR_009858 | 910 | G → R in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_009860 | 912 | V → L in PAIS. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_004736 | 914 | P → S in PAIS. | 1 |
Hypospadias 1, X-linked (HYSP1)1 PublicationManual assertion based on experiment ini
- Ref.106"Mutations of the androgen receptor gene identified in perineal hypospadias."
Batch J.A., Evans B.A.J., Hughes I.A., Patterson M.N.
J. Med. Genet. 30:198-201(1993) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN PAIS, INVOLVEMENT IN HYSP1, VARIANTS PAIS HIS-856 AND MET-870.
Ref.106
"Mutations of the androgen receptor gene identified in perineal hypospadias."
Batch J.A., Evans B.A.J., Hughes I.A., Patterson M.N.
J. Med. Genet. 30:198-201(1993) [PubMed] [Europe PMC] [Abstract]
Batch J.A., Evans B.A.J., Hughes I.A., Patterson M.N.
J. Med. Genet. 30:198-201(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PAIS, INVOLVEMENT IN HYSP1, VARIANTS PAIS HIS-856 AND MET-870.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome.
Related information in OMIMMutagenesis
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 83 | S → A: Reduced cell growth. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 225 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 269 | Y → F: Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-365. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 309 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 348 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 359 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 364 | Y → F: Decrease of CSK-induced phosphorylation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Mutagenesisi | 365 | Y → F: Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-269. 2 Publications Manual assertion based on experiment ini |