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1 to 25 of 42  Show
  1. 1
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3), VARIANT APS1 GLU-83.
    Category: Pathology & Biotech, Sequences.
    Tissue: Thymus.
    Source: UniProtKB/Swiss-Prot (reviewed).
  2. 2
    "An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains."
    Aaltonen J., Bjoerses P., Perheentupa J., Horelli-Kuitunen N., Palotie A., Peltonen L., Lee Y.S., Francis F., Hennig S., Thiel C., Lehrach H., Yaspo M.-L.
    Nat. Genet. 17:399-403(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
    Category: Sequences.
    Tissue: Thymus.
    Source: UniProtKB/Swiss-Prot (reviewed).
  3. 3
    Lee Y.S., Francis F., Hennig S., Thiel C., Reinhard R., Lehrach H., Yaspo M.-L.
    Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  4. 4
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 621 other entries.

  5. 5
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  6. 6
    "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] (ISOFORM 4).
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50448 other entries.

  7. 7
    "Localization of the APECED protein in distinct nuclear structures."
    Bjoerses P., Pelto-Huikko M., Kaukonen J., Aaltonen J., Peltonen L., Ulmanen I.
    Hum. Mol. Genet. 8:259-266(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
    Category: Subcellular Location.
    Source: UniProtKB/Swiss-Prot (reviewed).
  8. 8
    Cited for: PARTIAL PROTEIN SEQUENCE, SUBUNIT STRUCTURE, DNA-BINDING, PHOSPHORYLATION.
    Category: Function, PTM / Processing, Interaction, Structure, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 5 other entries.

  9. 9
    "Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein."
    Bjeorses P., Halonen M., Palvimo J.J., Kolmer M., Aaltonen J., Ellonen P., Perheentupa J., Ulmanen I., Peltonen L.
    Am. J. Hum. Genet. 66:378-392(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, VARIANTS APS1 LEU-80; CYS-85; TYR-311 AND GLN-326.
    Category: Subcellular Location, Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  10. 10
    "Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain."
    Pitkaenen J., Vaehaemurto P., Krohn K.J.E., Peterson P.
    J. Biol. Chem. 276:19597-19602(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, FUNCTION, MUTAGENESIS OF CYS-302 AND CYS-437, CHARACTERIZATION OF VARIANT APS1 PRO-28.
    Category: Function, Subcellular Location, Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  11. 11
    "APECED-causing mutations in AIRE reveal the functional domains of the protein."
    Halonen M., Kangas H., Rueppell T., Ilmarinen T., Ollila J., Kolmer M., Vihinen M., Palvimo J., Saarela J., Ulmanen I., Eskelin P.
    Hum. Mutat. 23:245-257(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, HOMOOLIGOMERIZATION, CHARACTERIZATION OF VARIANTS APS1 LEU-15; MET-16; VAL-21; PRO-28; PRO-29; ARG-78; LEU-80; GLU-83; CYS-90; ARG-93; TRP-228 AND GLN-326.
    Category: Subcellular Location, Pathology & Biotech, Interaction, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  12. 12
    "The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression."
    Org T., Chignola F., Hetenyi C., Gaetani M., Rebane A., Liiv I., Maran U., Mollica L., Bottomley M.J., Musco G., Peterson P.
    EMBO Rep. 9:370-376(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HISTONE H3 NON-METHYLATED OR MONO-METHYLATED AT LYS-4, FUNCTION, MUTAGENESIS OF ASP-297 AND ASP-312, CHARACTERIZATION OF VARIANTS APS1 MET-301 AND TYR-311.
    Category: Function, Pathology & Biotech, Interaction, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 1 other entry.

  13. 13
    Cited for: REVIEW OF FUNCTION IN SELF-TOLERANCE.
    Category: Function.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  14. 14
    "Extrathymic Aire-expressing cells are a distinct bone marrow-derived population that induce functional inactivation of CD4[?] T cells."
    Gardner J.M., Metzger T.C., McMahon E.J., Au-Yeung B.B., Krawisz A.K., Lu W., Price J.D., Johannes K.P., Satpathy A.T., Murphy K.M., Tarbell K.V., Weiss A., Anderson M.S.
    Immunity 39:560-572(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
    Category: Expression.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 5 other entries.

  15. 15
    "AIRE expands: new roles in immune tolerance and beyond."
    Anderson M.S., Su M.A.
    Nat. Rev. Immunol. 16:247-258(2016) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW OF FUNCTION IN SELF-TOLERANCE.
    Category: Function.
    Source: UniProtKB/Swiss-Prot (reviewed).
  16. 16
    "NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease."
    Bottomley M.J., Stier G., Pennacchini D., Legube G., Simon B., Akhtar A., Sattler M., Musco G.
    J. Biol. Chem. 280:11505-11512(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 293-354 IN COMPLEX WITH ZINC IONS, CHARACTERIZATION OF VARIANTS APS1 MET-301; TYR-311 AND GLN-326.
    Category: Pathology & Biotech, Interaction, Structure, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  17. 17
    "The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation."
    Chignola F., Gaetani M., Rebane A., Org T., Mollica L., Zucchelli C., Spitaleri A., Mannella V., Peterson P., Musco G.
    Nucleic Acids Res. 37:2951-2961(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 293-354 IN COMPLEX WITH ZINC IONS AND UNMETHYLATED HISTONE H3 N-TERMINUS, IDENTIFICATION BY MASS SPECTROMETRY, MUTAGENESIS OF ASN-295; GLU-298; ARG-303; ASP-304 AND GLU-307, INTERACTION WITH HISTOME H3.
    Category: Pathology & Biotech, Interaction, Structure, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  18. 18
    "Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator."
    Chakravarty S., Zeng L., Zhou M.-M.
    Structure 17:670-679(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 294-347 IN COMPLEX WITH ZINC IONS AND UNMETHYLATED HISTONE H3 N-TERMINUS, CHARACTERIZATION OF VARIANTS APS1 MET-301; TYR-311; LEU-326 AND GLN-326.
    Category: Pathology & Biotech, Interaction, Structure, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  19. 19
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  20. 20
    Cited for: VARIANT ARG-278.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  21. 21
    "Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy."
    Saugier-Veber P., Drouot N., Wolf L.M., Kuhn J.M., Frebourg T., Lefebvre H.
    Eur. J. Endocrinol. 144:347-351(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APS1 LEU-326.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  22. 22
    Cited for: VARIANTS APS1 LEU-15; MET-16; PRO-28; PR0-29; ARG-78; LEU-80; GLU-83; CYS-85; CYS-90; ARG-93; MET-301; TYR-311 AND GLN-326, VARIANT ARG-278.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  23. 23
    "Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED."
    The MEWPE-APECED study group
    Cihakova D., Trebusak K., Heino M., Fadeyev V., Tiulpakov A., Battelino T., Tar A., Halasz Z., Bluemel P., Tawfik S., Krohn K., Lebl J., Peterson P.
    Hum. Mutat. 18:225-232(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APS1 MET-16 AND ARG-78.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  24. 24
    "A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis."
    Cetani F., Barbesino G., Borsari S., Pardi E., Cianferotti L., Pinchera A., Marcocci C.
    J. Clin. Endocrinol. Metab. 86:4747-4752(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APS1 TRP-228.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  25. 25
    "Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations."
    Kogawa K., Kudoh J., Nagafuchi S., Ohga S., Katsuta H., Ishibashi H., Harada M., Hara T., Shimizu N.
    Clin. Immunol. 103:277-283(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APS1 PRO-29.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
1 to 25 of 42  Show
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