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1 to 25 of 140  Show
  1. 1
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT DFNA3B MET-5.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  2. 2
    "Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12."
    Kelley P.M., Abe S., Askew J.W., Smith S.D., Usami S., Kimberling W.J.
    Genomics 62:172-176(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-139 AND THR-199.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 3 other entries.

  3. 3
    "Human connexin30, updated ORF."
    Enriquez A.D., Scherer S.S.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Category: Sequences.
    Tissue: Corpus callosum.
    Source: UniProtKB/Swiss-Prot (reviewed).
  4. 4
    "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Category: Sequences.
    Tissue: Brain cortex.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 12928 other entries.

  5. 5
    "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Category: Sequences.
    Tissue: Thyroid.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 302 other entries.

  6. 6
    "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 924 other entries.

  7. 7
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  8. 8
    "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Category: Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50459 other entries.

  9. 9
    "Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30."
    Essenfelder G.M., Larderet G., Waksman G., Lamartine J.
    Gene 350:33-40(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-40, GENE STRUCTURE.
    Category: Structure, Sequences.
    Tissue: Hair follicle.
    Source: UniProtKB/Swiss-Prot (reviewed).
  10. 10
    Cited for: INVOLVEMENT IN DFNB1B.
    Category: Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).
  11. 11
    Cited for: INVOLVEMENT IN DFNB1B.
    Category: Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  12. 12
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  13. 13
    "A novel connexin 30 mutation in Clouston syndrome."
    Smith F.J., Morley S.M., McLean W.H.I.
    J. Invest. Dermatol. 118:530-532(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ECTD2 GLU-37.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  14. 14
    "Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss."
    Nemoto-Hasebe I., Akiyama M., Kudo S., Ishiko A., Tanaka A., Arita K., Shimizu H.
    Br. J. Dermatol. 161:452-455(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARG-59.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  15. 15
    "Synthesis and assembly of connexins in vitro into homomeric and heteromeric functional gap junction hemichannels."
    Ahmad S., Diez J.A., George C.H., Evans W.H.
    Biochem. J. 339:247-253(1999) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: PathwayImported.
    Source: Reactome:R-HSA-190633.

    This publication is mapped to 15 other entries.

  16. 16
    "A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews."
    Lerer I., Sagi M., Ben-Neriah Z., Wang T., Levi H., Abeliovich D.
    Hum. Mutat. 18:460-460(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: founder deletion mutation in GJB6 cooperating with a GJB2 mutation in Ashkenazi Jews with non-syndromic deafnessImported.
    Source: GeneRIF:10804.

    This publication is mapped to 10 other entries.

  17. 17
    "A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?"
    Pallares-Ruiz N., Blanchet P., Mondain M., Claustres M., Roux A.F.
    Eur. J. Hum. Genet. 10:72-76(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: homozygous deletion of a region encompassing this gene causes non syndromic hearing lossImported.
    Source: GeneRIF:10804.

    This publication is mapped to 1 other entry.

  18. 18
    "GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review."
    Kenneson A., Van Naarden Braun K., Boyle C.
    Genet. Med. 4:258-274(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Meta-analysis and HuGE review of genotype prevalence gene-disease association gene-gene interaction gene-environment interaction genetic testing and healthcare-related. (HuGE Navigator)Imported.
    Source: GeneRIF:10804.

    This publication is mapped to 10 other entries.

  19. 19
    "Functional studies of human skin disease- and deafness-associated connexin 30 mutations."
    Common J.E., Becker D., Di W.L., Leigh I.M., O'Toole E.A., Kelsell D.P.
    Biochem. Biophys. Res. Commun. 298:651-656(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Subcellular Location, Family & Domains.
    Annotation: skin disease-associated Cx30 mutations:impaired trafficking of the protein to the plasma membrane prevented functional CX30 gap junction formation; deafness-associated mutation: protein trafficked to membrane but channel activity was defectiveImported.
    Source: GeneRIF:10804.

    This publication is mapped to 1 other entry.

  20. 20
    "Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells."
    Beltramello M., Bicego M., Piazza V., Ciubotaru C.D., Mammano F., D'Andrea P.
    Biochem. Biophys. Res. Commun. 305:1024-1033(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Permeability and gating properties of connexin 30.Imported.
    Source: GeneRIF:10804.

    This publication is mapped to 10 other entries.

  21. 21
    "A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia."
    Zhang X.J., Chen J.J., Yang S., Cui Y., Xiong X.Y., He P.P., Dong P.L., Xu S.J., Li Y.B., Zhou Q., Wang Y., Huang W.
    J. Dermatol. Sci. 32:11-17(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: A G11R missense mutation in the Cx30 gene can cause HED in Chinese Han population .Imported.
    Source: GeneRIF:10804.

    This publication is mapped to 1 other entry.

  22. 22
    "Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands."
    Pandya A., Arnos K.S., Xia X.J., Welch K.O., Blanton S.H., Friedman T.B., Garcia Sanchez G., Liu MD X.Z., Morell R., Nance W.E.
    Genet. Med. 5:295-303(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: GJB2 and GJB6 may have a causative role in deafnessImported.
    Source: GeneRIF:10804.

    This publication is mapped to 10 other entries.

  23. 23
    "The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria."
    Gunther B., Steiner A., Nekahm-Heis D., Albegger K., Zorowka P., Utermann G., Janecke A.
    Hum. Mutat. 22:180-180(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech.
    Annotation: The large GJB6 deletion was not found in the Austrian non-syndromic hearing loss patients; Observational study of genotype prevalence. (HuGE Navigator)Imported, Not Associated with OTHER: hearing loss, sensorineural.Imported.
    Source: GeneRIF:10804, GAD:124007.

    This publication is mapped to 1 other entry.

  24. 24
    "Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study."
    Del Castillo I., Moreno-Pelayo M.A., Del Castillo F.J., Brownstein Z., Marlin S., Adina Q., Cockburn D.J., Pandya A., Siemering K.R., Chamberlin G.P., Ballana E., Wuyts W., Maciel-Guerra A.T., Alvarez A., Villamar M., Shohat M., Abeliovich D., Dahl H.H.
    Moreno F.
    Am. J. Hum. Genet. 73:1452-1458(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Observational study of genotype prevalence. (HuGE Navigator)Imported.
    Source: GeneRIF:10804.

    This publication is mapped to 1 other entry.

  25. 25
    "Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6."
    Bolz H., Schade G., Ehmer S., Kothe C., Hess M., Gal A.
    Hear. Res. 188:42-46(2004) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: It showed that patients who are compound heterozygous for a 342-kb deletion involving a large portion of the 5'-part of GJB6 encoding connexin 30 and a GJB2 mutation develop NSHL due to a trait with a digenic pattern of inheritance.Imported.
    Source: GeneRIF:10804.

    This publication is mapped to 10 other entries.

1 to 25 of 140  Show
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