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"name": {
"name": "PHD finger 1 found in autoimmune regulator (AIRE)",
"short": "PHD1_AIRE"
},
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{
"text": "<p>AIRE, also termed autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) protein, functions as a regulator of gene transcription in the thymus. It is essential for prevention of autoimmunity. AIRE plays a critical role in the induction of central tolerance. It promotes self-tolerance through tissue-specific antigen (TSA) expression. It also acts as an active regulator of chondrocyte differentiation. AIRE contains a homogeneously-staining region (HSR) or caspase-recruitment domain (CARD), a nuclear localization signal (NLS), a SAND (for Sp100, AIRE, nuclear phosphoprotein 41/75 or NucP41/75, and deformed epidermal auto regulatory factor 1 or Deaf1) domain, two plant homeodomain (PHD) fingers, and four LXXLL (where L stands for leucine) motifs. This model corresponds to the first PHD finger that recognizes the unmethylated tail of histone H3 and targets AIRE-dependent genes. [[cite:PUB00131745], [cite:PUB00010323], [cite:PUB00131746], [cite:PUB00010394], [cite:PUB00131747], [cite:PUB00131748], [cite:PUB00093097], [cite:PUB00131749], [cite:PUB00131750], [cite:PUB00131751], [cite:PUB00131752], [cite:PUB00131753], [cite:PUB00131754], [cite:PUB00131755], [cite:PUB00131756], [cite:PUB00131757], [cite:PUB00131758], [cite:PUB00131759], [cite:PUB00131760], [cite:PUB00131761], [cite:PUB00072610], [cite:PUB00038378], [cite:PUB00048334], [cite:PUB00048326], [cite:PUB00131762], [cite:PUB00131763], [cite:PUB00131764], [cite:PUB00131765], [cite:PUB00131766], [cite:PUB00131767], [cite:PUB00131768], [cite:PUB00066015]]</p>",
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"title": "AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.",
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"medline_journal": "J Clin Endocrinol Metab",
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"authors": [
"Halonen M",
"Eskelin P",
"Myhre AG",
"Perheentupa J",
"Husebye ES",
"Kampe O",
"Rorsman F",
"Peltonen L",
"Ulmanen I",
"Partanen J."
],
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"volume": "17",
"issue": "4",
"year": 1997,
"title": "An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.",
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"raw_pages": "399-403",
"medline_journal": "Nat Genet",
"ISO_journal": "Nat. Genet.",
"authors": [
"Finnish-German APECED Consortium."
],
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},
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"volume": "23",
"issue": "3",
"year": 2004,
"title": "APECED-causing mutations in AIRE reveal the functional domains of the protein.",
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"medline_journal": "Hum Mutat",
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"Halonen M",
"Kangas H",
"Ruppell T",
"Ilmarinen T",
"Ollila J",
"Kolmer M",
"Vihinen M",
"Palvimo J",
"Saarela J",
"Ulmanen I",
"Eskelin P."
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"issue": "22",
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"title": "Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain.",
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"medline_journal": "J Biol Chem",
"ISO_journal": "J Biol Chem",
"authors": [
"Pitkanen J",
"Vahamurto P",
"Krohn K",
"Peterson P."
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"title": "Regulation of human autoimmune regulator (AIRE) gene translation by miR-220b.",
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"Matsuo T",
"Noguchi Y",
"Shindo M",
"Morita Y",
"Oda Y",
"Yoshida E",
"Hamada H",
"Harada M",
"Shiokawa Y",
"Nishida T",
"Tominaga R",
"Kikushige Y",
"Akashi K",
"Kudoh J",
"Shimizu N",
"Tanaka Y",
"Umemura T",
"Taniguchi T",
"Yoshimura A",
"Kobayashi T",
"Mitsuyama M",
"Kurisaki H",
"Katsuta H",
"Nagafuchi S."
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"Org T",
"Chignola F",
"Hetenyi C",
"Gaetani M",
"Rebane A",
"Liiv I",
"Maran U",
"Mollica L",
"Bottomley MJ",
"Musco G",
"Peterson P."
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"title": "A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.",
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"Sato K",
"Nakajima K",
"Imamura H",
"Deguchi T",
"Horinouchi S",
"Yamazaki K",
"Yamada E",
"Kanaji Y",
"Takano K."
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"Meloni A",
"Fiorillo E",
"Corda D",
"Perniola R",
"Cao A",
"Rosatelli MC."
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"Scott HS",
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"Minoshima S",
"Heino M",
"Krohn KJ",
"Lalioti MD",
"Mullis PE",
"Antonarakis SE",
"Kawasaki K",
"Asakawa S",
"Ito F",
"Shimizu N."
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"Bjorses P",
"Halonen M",
"Palvimo JJ",
"Kolmer M",
"Aaltonen J",
"Ellonen P",
"Perheentupa J",
"Ulmanen I",
"Peltonen L."
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"title": "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.",
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"medline_journal": "Nucleic Acids Res",
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"Chignola F",
"Gaetani M",
"Rebane A",
"Org T",
"Mollica L",
"Zucchelli C",
"Spitaleri A",
"Mannella V",
"Peterson P",
"Musco G."
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"title": "Which model better fits the role of aire in the establishment of self-tolerance: the transcription model or the maturation model?",
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"Matsumoto M",
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"Zucchelli C",
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"Meloni A",
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"Faa V",
"Corvaglia E",
"Cao A",
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"Shimizu N."
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