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Scientific Literature, AIRE
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Aaltonen J, Bjorses P 1999 Cloning of the APECED gene provides new insight into human autoimmunity.
Ann. Med. 31: 111-116.
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Adamson KA, Pearce SH, Lamb JR, Seckl JR, Howie SE 2004 A comparative study of mRNA and protein expression of the autoimmune regulator gene (Aire) in embryonic and adult murine tissues.
J. Pathol. 202: 180-187.
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Ahn S, Lee G, Yang SJ, Lee D, Lee S, Shin HS, Kim MC, Lee KN, Palmer DC, Theoret MR, Jenkinson EJ, Anderson G, Restifo NP, Kim MG 2008 TSCOT (+) thymic epithelial cell-mediated sensitive CD4 tolerance by direct presentation.
PLoS Biol. 6: e191.
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Akiyama T, Shimo Y, Yanai H, Qin J, Ohshima D, Maruyama Y, Asaumi Y, Kitazawa J, Takayanagi H, Penninger JM, Matsumoto M, Nitta T, Takahama Y, Inoue JI 2008 The tumor necrosis factor family receptors RANK and CD40 cooperatively establish the thymic medullary microenvironment and self-tolerance.
Immunity 29: 423-437.
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Akiyoshi H, Hatakeyama S, Pitkanen J, Mouri Y, Doucas V, Kudoh J, Tsurugaya K, Uchida D, Matsushima A, Oshikawa K, Nakayama KI, Shimizu N, Peterson P, Matsumoto M 2004 Subcellular expression of autoimmune regulator is organized in a spatiotemporal manner.
J. Biol. Chem. 279: 33984-33991.
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Alimohammadi M, Bjorklund P, Hallgren A, Pontynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerstrom G, Westin G, Scott HS, Hollander GA, Kampe O 2008 Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
N. Engl. J. Med. 358: 1018-1028.
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Anderson MS, Venanzi ES, Chen Z, Berzins SP, Benoist C, Mathis D 2005 The cellular mechanism of Aire control of T cell tolerance.
Immunity 23: 227-239.
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Anderson MS, Venanzi ES, Klein L, Chen Z, Berzins SP, Turley SJ, von Boehmer H, Bronson R, Dierich A, Benoist C, Mathis D 2002 Projection of an immunological self shadow within the thymus by the aire protein.
Science 298: 1395-1401.
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Aschenbrenner K, D'Cruz LM, Vollmann EH, Hinterberger M, Emmerich J, Swee LK, Rolink A, Klein L 2007 Selection of Foxp3(+) regulatory T cells specific for self antigen expressed and presented by Aire(+) medullary thymic epithelial cells.
Nat. Immunol. 8: 351-358.
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Ballarini A, Lee-Kirsch MA 2007 Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes.
Ann. N. Y. Acad. Sci. 1110: 159-165.
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Bensing S, Fetissov SO, Mulder J, Perheentupa J, Gustafsson J, Husebye ES, Oscarson M, Ekwall O, Crock PA, Hokfelt T, Hulting AL, Kampe O 2007 Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1.
Proc. Natl. Acad. Sci. U.S.A. 104: 949-954.
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Berg PA, Klein R 2002 Autoimmune hepatitis and overlap syndrome: diagnosis.
Schweiz. Rundsch. Med. Prax. 91: 1339-1346.
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Bjorses P, Aaltonen J, Horelli-Kuitunen N, Yaspo ML, Peltonen L 1998 Gene defect behind APECED: a new clue to autoimmunity.
Hum. Mol. Genet. 7: 1547-1553.
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Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L 2000 Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
Am. J. Hum. Genet. 66: 378-392.
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Bjorses P, Pelto-Huikko M, Kaukonen J, Aaltonen J, Peltonen L, Ulmanen I 1999 Localization of the APECED protein in distinct nuclear structures.
Hum. Mol. Genet. 8: 259-266.
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Blechschmidt K, Schweiger M, Wertz K, Poulson R, Christensen HM, Rosenthal A, Lehrach H, Yaspo ML 1999 The mouse Aire gene: comparative genomic sequencing, gene organization, and expression.
Genome Res. 9: 158-166.
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Boe AS, Knappskog PM, Myhre AG, Sorheim JI, Husebye ES 2002 Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.
Eur. J. Endocrinol. 146: 519-522.
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Boe Wolff AS, Oftedal B, Johansson S, Bruland O, Lovas K, Meager A, Pedersen C, Husebye ES, Knappskog PM 2008 AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I.
Genes Immun. 9: 130-136.
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Brannstrom J, Hassler S, Peltonen L, Herrmann B, Winqvist O 2006 Defect internalization and tyrosine kinase activation in Aire deficient antigen presenting cells exposed to Candida albicans antigens.
Clin. Immunol. 121: 265-273.
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Capalbo D, Elefante A, Spagnuolo MI, Mazza C, Betterle C, Pignata C, Salerno M 2008 Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE.
Clin. Endocrinol. (Oxf.) Jan 29 [Epub ahead of print].
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Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, Sediva A, Marrella V, Villa A, Fischer A, Notarangelo LD, Badolato R 2005 AIRE deficiency in thymus of 2 patients with Omenn syndrome.
J. Clin. Invest. 115: 728-732.
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Cervato S, Mariniello B, Lazzarotto F, Morlin L, Zanchetta R, Radetti G, De Luca F, Valenzise M, Giordano R, Rizzo D, Giordano C, Betterle C 2008 Evaluation of the AIRE gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives.
Clin. Endocrinol. (Oxf.) Jun 27 [Epub ahead of print].
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Cetani F, Barbesino G, Borsari S, Pardi E, Cianferotti L, Pinchera A, Marcocci C 2001 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.
J. Clin. Endocrinol. Metab. 86: 4747-4752.
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Chen J, Yang W, Yu C, Li Y 2008 Autoimmune regulator initiates the expression of promiscuous genes in thymic epithelial cells.
Immunol. Invest. 37: 203-214.
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Cheng MH, Shum AK, Anderson MS 2007 What's new in the Aire?
Trends Immunol. 28: 321-327.
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Chin RK, Lo JC, Kim O, Blink SE, Christiansen PA, Peterson P, Wang Y, Ware C, Fu YX 2003 Lymphotoxin pathway directs thymic Aire expression.
Nat. Immunol. 4: 1121-11237.
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Chin RK, Zhu M, Christiansen PA, Liu W, Ware C, Peltonen L, Zhang X, Guo L, Han S, Zheng B, Fu YX 2006 Lymphotoxin pathway-directed, autoimmune regulator-independent central tolerance to arthritogenic collagen.
J. Immunol. 177: 290-297.
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Collins SM, Dominguez M, Ilmarinen T, Costigan C, Irvine AD 2006 Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
Br. J. Dermatol. 154: 1088-1093.
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Coutinho A, Caramalho I, Seixas E, Demengeot J 2005 Thymic commitment of regulatory T cells is a pathway of TCR-dependent selection that isolates repertoires undergoing positive or negative selection.
Curr. Top. Microbiol. Immunol. 293: 43-71.
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Czaja AJ 2007 Autoimmune liver disease and rheumatic manifestations.
Curr. Opin. Rheumatol. 19: 74-80.
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De Luca F, Valenzise M, Alaggio R, Arrigo T, Crisafulli G, Salzano G, Cervato S, Mariniello B, Lazzarotto F, Betterle C 2008 Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers.
Eur. J. Pediatr. Feb 15 [Epub ahead of print].
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Devoss J, Hou Y, Johannes K, Lu W, Liou GI, Rinn J, Chang H, Caspi R, Fong L, Anderson MS 2006 Spontaneous autoimmunity prevented by thymic expression of a single self-antigen.
J. Exp. Med. 203: 2727-2735.
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Devoss JJ, Anderson MS 2007 Lessons on immune tolerance from the monogenic disease APS1.
Curr. Opin. Genet. Dev. 17: 193-200.
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Devoss JJ, Shum AK, Johannes KP, Lu W, Krawisz AK, Wang P, Yang T, Leclair NP, Austin C, Strauss EC, Anderson MS 2008 Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1.
J. Immunol. 181: 4072-4079.
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Dib SA 2008 Heterogeneity of type 1 diabetes mellitus.
Arq. Bras. Endocrinol. Metabol. 52: 205-218.
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Djilali-Saiah I, Renous R, Caillat-Zucman S, Debray D, Alvarez F 2004 Linkage disequilibrium between HLA class II region and autoimmune hepatitis in pediatric patients.
J. Hepatol. 40: 904-909.
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Dunajska K, Szymczak J 2004 Autoimmune multiglandular syndrome type I - a case study.
Pol. Merkuriusz Lek. 17: 625-628.
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Ferguson BJ, Alexander CE, Rossi SW, Liiv I, Rebane A, Worth CL, Wong J, Laan M, Peterson P, Jenkinson EJ, Anderson G, Scott HS, Cooke A, Rich T 2008 AIRE's card revealed: a new structure for central tolerance provokes transcriptional plasticity.
J. Biol. Chem. 283: 1723-1731.
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Ferguson BJ, Cooke A, Peterson P, Rich T 2008 Death in the AIRE.
Trends Immunol. 29: 306-312.
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Ferrera F, Rizzi M, Sprecacenere B, Balestra P, Sessarego M, Di Carlo A, Filaci G, Gabrielli A, Ravazzolo R, Indiveri F 2007 AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.
Clin. Immunol. 122: 13-17.
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Finnish-German APECED Consortium 1997 An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. The Finnish-German APECED Consortium. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.
Nat. Genet. 17: 399-403.
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Fuchtenbusch M, Vogel A, Achenbach P, Gummer M, Ziegler AG, Albert E, Standl E, Manns MP 2003 Lupus-like panniculitis in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
Exp. Clin. Endocrinol. Diabetes 111: 288-293.
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Gardner JM, Devoss JJ, Friedman RS, Wong DJ, Tan YX, Zhou X, Johannes KP, Su MA, Chang HY, Krummel MF, Anderson MS 2008 Deletional tolerance mediated by extrathymic Aire-expressing cells.
Science 321: 843-847.
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Gavanescu I, Benoist C, Mathis D 2008 B cells are required for Aire-deficient mice to develop multi-organ autoinflammation: a therapeutic approach for APECED patients.
Proc. Natl. Acad. Sci. U.S.A. 105: 13009-13014.
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Gavanescu I, Kessler B, Ploegh H, Benoist C, Mathis D 2007 Loss of Aire-dependent thymic expression of a peripheral tissue antigen renders it a target of autoimmunity.
Proc. Natl. Acad. Sci. U.S.A. 104: 4583-4587.
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Gazulla J, Benavente I, Ricoy J, Madero P 2005 Myopathy with trabecular fibers associated with familiar autoinmune polyglandular syndrome type 1.
Neurologia 20: 702-708.
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Gergely J 2007 On the way to understand the mechanism of immunological tolerance.
Orv. Hetil. 148: S7-S11.
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Giraud M, Taubert R, Vandiedonck C, Ke X, Levi-Strauss M, Pagani F, Baralle FE, Eymard B, Tranchant C, Gajdos P, Vincent A, Willcox N, Beeson D, Kyewski B, Garchon HJ 2007 An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
Nature 448: 934-937.
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Goswami R, Gupta N, Ray D, Rani R, Tomar N, Sarin R, Vupputuri MR 2005 Polymorphisms at +49A/G and CT60 sites in the 3' UTR of the CTLA-4 gene and APECED-related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidism.
Int. J. Immunogenet. 32: 393-400.
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Gotter J, Kyewski B 2004 Regulating self-tolerance by deregulating gene expression.
Curr. Opin. Immunol. 16: 741-745.
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Guerau-de-Arellano M, Mathis D, Benoist C 2008 Transcriptional impact of Aire varies with cell type.
Proc. Natl. Acad. Sci. U.S.A. Sep 9 [Epub ahead of print].
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Gustafsson J, Alimohammadi M, Ekwall O, Gebre-Medhin G, Halldin-Stenlid M, Hedstrand H, Landgren E, Nilsson T, Rorsman F, Skoldberg F, Winqvist O, Kampe O 2004 APS I - a severe autoimmune disease with endocrine and non-endocrine symptoms.
Lakartidningen 101: 2096-2098, 2101-2103.
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Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kampe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J 2002 AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
J. Clin. Endocrinol. Metab. 87: 2568-2574.
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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 2004 APECED-causing mutations in AIRE reveal the functional domains of the protein.
Hum. Mutat. 23: 245-257.
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Halonen M, Pelto-Huikko M, Eskelin P, Peltonen L, Ulmanen I, Kolmer M 2001 Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED).
J. Histochem. Cytochem. 49: 197-208.
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Hamazaki Y, Fujita H, Kobayashi T, Choi Y, Scott HS, Matsumoto M, Minato N 2007 Medullary thymic epithelial cells expressing Aire represent a unique lineage derived from cells expressing claudin.
Nat. Immunol. 8: 304-311.
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Hassler S, Peltonen L, Sandler S, Winqvist O 2008 Aire deficiency causes increased susceptibility to streptozotocin-induced murine type 1 diabetes.
Scand. J. Immunol. 67: 569-580.
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Heino M, Peterson P, Sillanpaa N, Guerin S, Wu L, Anderson G, Scott HS, Antonarakis SE, Kudoh J, Shimizu N, Jenkinson EJ, Naquet P, Krohn KJ 2000 RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse.
Eur. J. Immunol. 30: 1884-1893.
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Hikosaka Y, Nitta T, Ohigashi I, Yano K, Ishimaru N, Hayashi Y, Matsumoto M, Matsuo K, Penninger JM, Takayanagi H, Yokota Y, Yamada H, Yoshikai Y, Inoue J, Akiyama T, Takahama Y 2008 The cytokine RANKL produced by positively selected thymocytes fosters medullary thymic epithelial cells that express autoimmune regulator.
Immunity 29: 438-450.
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Hubert FX, Kinkel SA, Webster KE, Cannon P, Crewther PE, Proeitto AI, Wu L, Heath WR, Scott HS 2008 A specific anti-AIRE antibody reveals AIRE expression is restricted to medullary thymic epithelial cells and not expressed in periphery.
J. Immunol. 180: 3824-3832.
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Ikegami H 2002 Animal models of autoimmune polyglandular syndrome.
Endocrinol. Metab. Clin. North Am. 31: 431-439, viii.
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Ilmarinen T, Eskelin P, Halonen M, Ruppell T, Kilpikari R, Torres GD, Kangas H, Ulmanen I 2005 Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
Hum. Mutat. 26: 322-331.
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Ilmarinen T, Kangas H, Kytomaa T, Eskelin P, Saharinen J, Seeler JS, Tanhuanpaa K, Chan FY, Slattery RM, Alakurtti K, Palvimo JJ, Ulmanen I 2008 Functional interaction of AIRE with PIAS1 in transcriptional regulation.
Mol. Immunol. 45: 1847-1862.
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Ilmarinen T, Melen K, Kangas H, Julkunen I, Ulmanen I, Eskelin P 2006 The monopartite nuclear localization signal of autoimmune regulator mediates its nuclear import and interaction with multiple importin alpha molecules.
FEBS J. 273: 315-324.
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Irla M, Hugues S, Gill J, Nitta T, Hikosaka Y, Williams IR, Hubert FX, Scott HS, Takahama Y, Hollander GA, Reith W 2008 Autoantigen-specific interactions with CD4(+) thymocytes control mature medullary thymic epithelial cell cellularity.
Immunity 29: 451-463.
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Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T 2000 Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
J. Clin. Endocrinol. Metab. 85: 2922-2926.
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Jiang W, Anderson MS, Bronson R, Mathis D, Benoist C 2005 Modifier loci condition autoimmunity provoked by Aire deficiency.
J. Exp. Med. 202: 805-815.
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Johnnidis JB, Venanzi ES, Taxman DJ, Ting JP, Benoist CO, Mathis DJ 2005 Chromosomal clustering of genes controlled by the aire transcription factor.
Proc. Natl. Acad. Sci. U.S.A. 102: 7233-7238.
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Kekalainen E, Miettinen A, Arstila TP 2007 Does the deficiency of Aire in mice really resemble human APECED?
Nat. Rev. Immunol. 7: 1.
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Kekalainen E, Tuovinen H, Joensuu J, Gylling M, Franssila R, Pontynen N, Talvensaari K, Perheentupa J, Miettinen A, Arstila TP 2007 A defect of regulatory T cells in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
J. Immunol. 178: 1208-1215.
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Kisand K, Link M, Wolff AS, Meager A, Tserel L, Org T, Murumagi A, Uibo R, Willcox N, Trebusak Podkrajsek K, Battelino T, Lobell A, Kampe O, Lima K, Meloni A, Ergun-Longmire B, Maclaren NK, Perheentupa J, Krohn KJ, Scott HS, Husebye ES, Peterson P 2008 Interferon autoantibodies associated with AIRE-deficiency decrease the expression of IFN-stimulated genes.
Blood Jul 7 [Epub ahead of print].
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Klamp T, Sahin U, Kyewski B, Schwendemann J, Dhaene K, Tureci O 2006 Expression profiling of autoimmune regulator AIRE mRNA in a comprehensive set of human normal and neoplastic tissues.
Immunol. Lett. 106: 172-179.
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Kogawa K, Kudoh J, Nagafuchi S, Ohga S, Katsuta H, Ishibashi H, Harada M, Hara T, Shimizu N 2002 Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.
Clin. Immunol. 103: 277-283.
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Kogawa K, Nagafuchi S, Katsuta H, Kudoh J, Tamiya S, Sakai Y, Shimizu N, Harada M 2002 Expression of AIRE gene in peripheral monocyte/dendritic cell lineage.
Immunol. Lett. 80: 195-198.
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Korniszewski L, Kurzyna M, Stolarski B, Torbicki A, Smerdel A, Ploski R 2003 Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome.
Eur. Respir. J. 22: 709-711.
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Kumar PG, Laloraya M, She JX 2002 Population genetics and functions of the autoimmune regulator (AIRE).
Endocrinol. Metab. Clin. North Am. 31: 321-338, vi.
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Kumar PG, Laloraya M, Wang CY, Ruan QG, Davoodi-Semiromi A, Kao KJ, She JX 2001 The autoimmune regulator (AIRE) is a DNA-binding protein.
J. Biol. Chem. 276: 41357-41364.
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Kuroda N, Mitani T, Takeda N, Ishimaru N, Arakaki R, Hayashi Y, Bando Y, Izumi K, Takahashi T, Nomura T, Sakaguchi S, Ueno T, Takahama Y, Uchida D, Sun S, Kajiura F, Mouri Y, Han H, Matsushima A, Yamada G, Matsumoto M 2005 Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice.
J. Immunol. 174: 1862-1870.
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Kyewski B 2008 Immunology. A breath of Aire for the periphery.
Science 321: 776-777.
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Lankisch TO, Jaeckel E, Strassburg CP, Manns MP 2005 Autoimmune polyglandular syndromes.
Internist (Berl.) 46: 750-758.
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Lankisch TO, Strassburg CP, Debray D, Manns MP, Jacquemin E 2005 Detection of autoimmune regulator gene mutations in children with type 2 autoimmune hepatitis and extrahepatic immune-mediated diseases.
J. Pediatr. 146: 839-842.
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Li J, Li Y, Yao JY, Jin R, Zhu MZ, Qian XP, Zhang J, Fu YX, Wu L, Zhang Y, Chen WF 2007 Developmental pathway of CD4+CD8 medullary thymocytes during mouse ontogeny and its defect in Aire -/- mice.
Proc. Natl. Acad. Sci. U.S.A. 104: 18175-18180.
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Li S, Nikulina K, Devoss J, Wu AJ, Strauss EC, Anderson MS, McNamara NA 2008 Small proline-rich protein 1B (SPRR1B) is a biomarker for squamous metaplasia in dry eye disease.
Invest. Ophthalmol. Vis. Sci. 49: 34-41.
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Liiv I, Rebane A, Org T, Saare M, Maslovskaja J, Kisand K, Juronen E, Valmu L, Bottomley MJ, Kalkkinen N, Peterson P 2008 DNA-PK contributes to the phosphorylation of AIRE: importance in transcriptional activity.
Biochim. Biophys. Acta 1783: 74-83.
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Lin AE, Mak TW 2007 The role of E3 ligases in autoimmunity and the regulation of autoreactive T cells.
Curr. Opin. Immunol. 19: 665-673.
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Lintas C, Cappa M, Comparcola D, Nobili V, Fierabracci A 2008 An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (AIRE).
Eur. J. Pediatr. 167: 949-953.
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Liston A, Goodnow CC 2005 Genetic lesions in thymic T cell clonal deletion and thresholds for autoimmunity.
Novartis Found. Symp. 267: 180-192.
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Liston A, Gray DH, Lesage S, Fletcher AL, Wilson J, Webster KE, Scott HS, Boyd RL, Peltonen L, Goodnow CC 2004 Gene dosage - limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity.
J. Exp. Med. 200: 1015-1026.
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Liston A, Lesage S, Wilson J, Peltonen L, Goodnow CC 2003 Aire regulates negative selection of organ-specific T cells.
Nat. Immunol. 4: 350-354.
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Mackay IR 2005 The etiopathogenesis of autoimmunity.
Semin. Liver Dis. 25: 239-250.
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Martinez Lopez MM, Gonzalez Casado I, Alvarez Doforno R, Delgado Cervino E, Gracia Bouthelier R 2006 AIRE gene mutation in polyglandular syndrome type 1.
An. Pediatr. (Barc.) 64: 583-587.
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Martins VC, Boehm T, Bleul CC 2008 Ltbetar signaling does not regulate Aire-dependent transcripts in medullary thymic epithelial cells.
J. Immunol. 181: 400-407.
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Mathis D, Benoist C 2007 A decade of AIRE.
Nat. Rev. Immunol. 7: 645-650.
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Matsumoto M 2007 Transcriptional regulation in thymic epithelial cells for the establishment of self tolerance.
Arch. Immunol. Ther. Exp. (Warsz.) 55: 27-34.
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McDonagh AJ, Tazi-Ahnini R 2002 Epidemiology and genetics of alopecia areata.
Clin. Exp. Dermatol. 27: 405-409.
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Meager A, Peterson P, Willcox N 2008 Hypothetical review: thymic aberrations and type-I interferons; attempts to deduce autoimmunizing mechanisms from unexpected clues in monogenic and paraneoplastic syndromes.
Clin. Exp. Immunol. Aug 22 [Epub ahead of print].
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Meloni A, Furcas M, Cetani F, Marcocci C, Falorni A, Perniola R, Pura M, Bøe Wolff AS, Husebye ES, Lilic D, Ryan KR, Gennery AR, Cant AJ, Abinun M, Spickett GP, Arkwright PD, Denning D, Costigan C, Dominguez M, McConnell V, Willcox N, Meager A 2008 Autoantibodies against type I Interferons as an additional diagnostic criteria for autoimmune polyendocrine syndrome type I.
J. Clin. Endocrinol. Metab. Aug 26 [Epub ahead of print].
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Meloni A, Incani F, Corda D, Cao A, Rosatelli MC 2008 Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.
Mol. Immunol. 45: 805-809.
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Meloni A, Perniola R, Faa V, Corvaglia E, Cao A, Rosatelli MC 2002 Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
J. Clin. Endocrinol. Metab. 87: 841-846.
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Meriluoto T, Halonen M, Pelto-Huikko M, Kangas H, Korhonen J, Kolmer M, Ulmanen I, Eskelin P 2001 The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Keio. J. Med. 50: 225-239.
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Meyer G, Badenhoop K 2002 Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity.
J. Endocrinol. Invest. 25: 804-811.
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Meyer T, Ruppert V, Karatolios K, Maisch B 2007 Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
J. Electrocardiol. 40: 504-509.
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Mi QS, Deng ZB, Joshi SK, Wang ZZ, Zhou L, Eckenrode S, Joshi R, Ly D, Yi B, Delovitch TL, She JX 2006 The autoimmune regulator (Aire) controls iNKT cell development and maturation.
Nat. Med. 12: 624-626.
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Murumagi A, Silvennoinen O, Peterson P 2006 Ets transcription factors regulate AIRE gene promoter.
Biochem. Biophys. Res. Commun. 348: 768-774.
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Murumagi A, Vahamurto P, Peterson P 2003 Characterization of regulatory elements and methylation pattern of the autoimmune regulator (AIRE) promoter.
J. Biol. Chem. 278: 19784-19790.
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No authors listed 2008 In this issue.
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Nomura T, Sakaguchi S 2007 Foxp3 and Aire in thymus-generated T(reg) cells: a link in self-tolerance.
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Pitkanen J, Peterson P 2003 Autoimmune regulator: from loss of function to autoimmunity.
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Pitkanen J, Rebane A, Rowell J, Murumagi A, Strobel P, Moll K, Saare M, Heikkila J, Doucas V, Marx A, Peterson P 2005 Cooperative activation of transcription by autoimmune regulator AIRE and CBP.
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Pitkanen J, Vahamurto P, Krohn K, Peterson P 2001 Subcellular localization of the autoimmune regulator protein. Characterization of nuclear targeting and transcriptional activation domain.
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Pontynen N, Miettinen A, Petteri Arstila T, Kampe O, Alimohammadi M, Vaarala O, Peltonen L, Ulmanen I 2006 Aire deficient mice do not develop the same profile of tissue-specific autoantibodies as APECED patients.
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Pontynen N, Strengell M, Sillanpaa N, Saharinen J, Ulmanen I, Julkunen I, Peltonen L 2008 Critical immunological pathways are downregulated in APECED patient dendritic cells.
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David and Judy Rhodes
Last Update: 9/25/2008
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