{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T21:51:15Z","timestamp":1790373075710,"version":"4.1.0"},"reference-count":98,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Immun"],"published-print":{"date-parts":[[2003,1,1]]},"DOI":"10.1038\/sj.gene.6363929","type":"journal-article","created":{"date-parts":[[2003,2,20]],"date-time":"2003-02-20T15:51:00Z","timestamp":1045756260000},"page":"12-21","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":101,"title":["Autoimmune regulator: from loss of function to autoimmunity"],"prefix":"10.1038","volume":"4","author":[{"given":"J","family":"Pitk\u00e4nen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Peterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2003,1,16]]},"reference":[{"key":"BF6363929_CR1","doi-asserted-by":"crossref","first-page":"154","DOI":"10.3928\/0090-4481-19800401-07","volume":"9","author":"M Neufeld","year":"1980","unstructured":"Neufeld M, Maclaren N, Blizzard R . Autoimmune polyglandular syndromes. Pediatr Ann 1980; 9: 154\u2013162.","journal-title":"Pediatr Ann"},{"key":"BF6363929_CR2","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1055\/s-2007-979814","volume":"28","author":"J Perheentupa","year":"1996","unstructured":"Perheentupa J . Autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy (APECED). Horm Metab Res 1996; 28: 353\u2013356.","journal-title":"Horm Metab Res"},{"key":"BF6363929_CR3","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1056\/NEJM199006283222601","volume":"322","author":"P Ahonen","year":"1990","unstructured":"Ahonen P, Myllarniemi S, Sipila I, Perheentupa J . Clinical variation of autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990; 322: 1829\u20131836.","journal-title":"N Engl J Med"},{"key":"BF6363929_CR4","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/0140-6736(92)91894-E","volume":"339","author":"K Krohn","year":"1992","unstructured":"Krohn K, Uibo R, Aavik E, Peterson P, Savilahti K . Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase. Lancet 1992; 339: 770\u2013773.","journal-title":"Lancet"},{"key":"BF6363929_CR5","first-page":"323","volume":"78","author":"R Uibo","year":"1994","unstructured":"Uibo R, Aavik E, Peterson P et al. Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease. J Clin Endocrinol Metab 1994; 78: 323\u2013328.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR6","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1016\/0140-6736(92)91829-W","volume":"339","author":"O Winqvist","year":"1992","unstructured":"Winqvist O, Karlsson FA, Kampe O . 21-Hydroxylase, a major autoantigen in idiopathic Addison's disease. Lancet 1992; 339: 1559\u20131562.","journal-title":"Lancet"},{"key":"BF6363929_CR7","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1172\/JCI116843","volume":"92","author":"O Winqvist","year":"1993","unstructured":"Winqvist O, Gustafsson J, Rorsman F, Karlsson FA, Kampe O . Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease. J Clin Invest 1993; 92: 2377\u20132385.","journal-title":"J Clin Invest"},{"key":"BF6363929_CR8","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1210\/edrv.23.3.0466","volume":"23","author":"C Betterle","year":"2002","unstructured":"Betterle C, Dal Pra C, Mantero F, Zanchetta R . Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev 2002; 23: 327\u2013364.","journal-title":"Endocr Rev"},{"key":"BF6363929_CR9","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1136\/jmg.29.11.824","volume":"29","author":"J Zlotogora","year":"1992","unstructured":"Zlotogora J, Shapiro MS . Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 1992; 29: 824\u2013826.","journal-title":"J Med Genet"},{"key":"BF6363929_CR10","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1007\/s004390050846","volume":"103","author":"MC Rosatelli","year":"1998","unstructured":"Rosatelli MC, Meloni A, Devoto M et al. A common mutation in Sardinian autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy patients. Hum Genet 1998; 103: 428\u2013434.","journal-title":"Hum Genet"},{"issue":"4","key":"BF6363929_CR11","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/ng1297-399","volume":"17","author":"Johanna Aaltonen","year":"1997","unstructured":"The Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy. Nat Genet 1997; 17: 399\u2013403.","journal-title":"Nature Genetics"},{"key":"BF6363929_CR12","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng1297-393","volume":"17","author":"K Nagamine","year":"1997","unstructured":"Nagamine K, Peterson P, Scott HS et al. Positional cloning of the APECED gene. Nat Genet 1997; 17: 393\u2013398.","journal-title":"Nat Genet"},{"key":"BF6363929_CR13","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1006\/bbrc.1999.0223","volume":"255","author":"L Mittaz","year":"1999","unstructured":"Mittaz L, Rossier C, Heino M et al. Isolation and characterization of the mouse Aire gene. Biochem Biophys Res Commun 1999; 255: 483\u2013490.","journal-title":"Biochem Biophys Res Commun"},{"key":"BF6363929_CR14","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S0171-2985(97)80051-4","volume":"198","author":"T Sternsdorf","year":"1997","unstructured":"Sternsdorf T, Grotzinger T, Jensen K, Will H . Nuclear dots: actors on many stages. Immunobiology 1997; 198: 307\u2013331.","journal-title":"Immunobiology"},{"key":"BF6363929_CR15","doi-asserted-by":"crossref","first-page":"12\u2009555","DOI":"10.1074\/jbc.274.18.12555","volume":"274","author":"T Sternsdorf","year":"1999","unstructured":"Sternsdorf T, Jensen K, Reich B, Will H . The nuclear dot protein sp100, characterization of domains necessary for dimerization, subcellular localization and modification by small ubiquitin-like modifiers. J Biol Chem 1999; 274: 12\u2009555\u201312\u2009566.","journal-title":"J Biol Chem"},{"key":"BF6363929_CR16","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1242\/jcs.112.5.733","volume":"112","author":"HH Guldner","year":"1999","unstructured":"Guldner HH, Szostecki C, Schroder P et al. Splice variants of the nuclear dot-associated Sp100 protein contain homologies to HMG-1 and a human nuclear phosphoprotein-box motif. J Cell Sci 1999; 112: 733\u2013747.","journal-title":"J Cell Sci"},{"key":"BF6363929_CR17","doi-asserted-by":"crossref","first-page":"1976","DOI":"10.4049\/jimmunol.165.4.1976","volume":"165","author":"S Zuklys","year":"2000","unstructured":"Zuklys S, Balciunaite G, Agarwal A et al. Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy (APECED). J Immunol 2000; 165: 1976\u20131983.","journal-title":"J Immunol"},{"key":"BF6363929_CR18","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1006\/bbrc.1999.0308","volume":"257","author":"M Heino","year":"1999","unstructured":"Heino M, Peterson P, Kudoh J et al. Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. Biochem Biophys Res Commun 1999; 257: 821\u2013825.","journal-title":"Biochem Biophys Res Commun"},{"key":"BF6363929_CR19","doi-asserted-by":"crossref","first-page":"1884","DOI":"10.1002\/1521-4141(200007)30:7<1884::AID-IMMU1884>3.0.CO;2-P","volume":"30","author":"M Heino","year":"2000","unstructured":"Heino M, Peterson P, Sillanp\u00e4\u00e4 N et al. RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse. Eur J Immunol 2000; 30: 1884\u20131893.","journal-title":"Eur J Immunol"},{"key":"BF6363929_CR20","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0165-2478(01)00314-5","volume":"80","author":"K Kogawa","year":"2002","unstructured":"Kogawa K, Nagafuchi S, Katsuta H et al. Expression of AIRE gene in peripheral monocyte\/dendritic cell lineage. Immunol Lett 2002; 80: 195\u2013198.","journal-title":"Immunol Lett"},{"key":"BF6363929_CR21","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1177\/002215540104900207","volume":"49","author":"M Halonen","year":"2001","unstructured":"Halonen M, Pelto-Huikko M, Eskelin P et al. 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 2001; 49: 197\u2013208.","journal-title":"J Histochem Cytochem"},{"key":"BF6363929_CR22","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1101\/gr.9.2.158","volume":"9","author":"K Blechschmidt","year":"1999","unstructured":"Blechschmidt K, Schweiger M, Wertz K et al. The mouse Aire gene: comparative genomic sequencing, gene organization, and expression. Genome Res 1999; 9: 158\u2013166.","journal-title":"Genome Res"},{"key":"BF6363929_CR23","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1126\/science.281.5378.835","volume":"281","author":"BT Backstrom","year":"1998","unstructured":"Backstrom BT, Muller U, Hausmann B, Palmer E . Positive selection through a motif in the alphabeta T cell receptor. Science 1998; 281: 835\u2013838.","journal-title":"Science"},{"key":"BF6363929_CR24","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1093\/intimm\/7.3.435","volume":"7","author":"B Wang","year":"1995","unstructured":"Wang B, Levelt C, Salio M et al. Over-expression of CD3 epsilon transgenes blocks T lymphocyte development. Int Immunol 1995; 7: 435\u2013448.","journal-title":"Int Immunol"},{"key":"BF6363929_CR25","first-page":"275","volume":"72","author":"B Nabarra","year":"1991","unstructured":"Nabarra B, Andrianarison I . Thymus reticulum of autoimmune mice 3. Ultrastructural study of NOD (non-obese diabetic) mouse thymus. Int J Exp Pathol 1991; 72: 275\u2013287.","journal-title":"Int J Exp Pathol"},{"key":"BF6363929_CR26","doi-asserted-by":"crossref","first-page":"249","DOI":"10.3109\/08916939908994070","volume":"31","author":"C Atlan-Gepner","year":"1999","unstructured":"Atlan-Gepner C, Naspetti M, Valero R et al. Disorganization of thymic medulla precedes evolution towards diabetes in female NOD mice. Autoimmunity 1999; 31: 249\u2013260.","journal-title":"Autoimmunity"},{"key":"BF6363929_CR27","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s004390050891","volume":"103","author":"CY Wang","year":"1998","unstructured":"Wang CY, Davoodi-Semiromi A, Huang W et al. Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). Hum Genet 1998; 103: 681\u2013685.","journal-title":"Hum Genet"},{"key":"BF6363929_CR28","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1086\/302145","volume":"63","author":"SH Pearce","year":"1998","unstructured":"Pearce SH, Cheetham T, Imrie H et al. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet 1998; 63: 1675\u20131684.","journal-title":"Am J Hum Genet"},{"key":"BF6363929_CR29","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1210\/mend.12.8.0143","volume":"12","author":"HS Scott","year":"1998","unstructured":"Scott HS, Heino M, Peterson P et al. Common mutations in autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy patients of different origins. Mol Endocrinol 1998; 12: 1112\u20131119.","journal-title":"Mol Endocrinol"},{"key":"BF6363929_CR30","first-page":"4204","volume":"83","author":"AG Myhre","year":"1998","unstructured":"Myhre AG, Bj\u00f6rses P, Dalen A, Husebye ES . Three sisters with Addison's disease. J Clin Endocrinol Metab 1998; 83: 4204\u20134206.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR31","first-page":"844","volume":"84","author":"L Ward","year":"1999","unstructured":"Ward L, Paquette J, Seidman, E et al. Severe autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy. J Clin Endocrinol Metab 1999; 84: 844\u2013852.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR32","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6","volume":"13","author":"M Heino","year":"1999","unstructured":"Heino M, Scott HS, Chen Q et al. Mutation analyses of North American APS-1 patients. Hum Mutat 1999; 13: 69\u201374.","journal-title":"Hum Mutat"},{"key":"BF6363929_CR33","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1086\/302765","volume":"66","author":"P Bj\u00f6rses","year":"2000","unstructured":"Bj\u00f6rses P, Halonen M, Palvimo JJ et al. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy protein. Am J Hum Genet 2000; 66: 378\u2013392.","journal-title":"Am J Hum Genet"},{"key":"BF6363929_CR34","first-page":"2922","volume":"85","author":"T Ishii","year":"2000","unstructured":"Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T . Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy. J Clin Endocrinol Metab 2000; 85: 2922\u20132926.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR35","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/humu.1178","volume":"18","author":"D Cihakova","year":"2001","unstructured":"Cihakova D, Trebusak K, Heino M et al. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum Mutat 2001; 18: 225\u2013232.","journal-title":"Hum Mutat"},{"key":"BF6363929_CR36","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1046\/j.1365-2265.2001.01201.x","volume":"54","author":"AG Myhre","year":"2001","unstructured":"Myhre AG, Halonen M, Eskelin P et al. Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. Clin Endocrinol (Oxf) 2001; 54: 211\u2013217.","journal-title":"Clin Endocrinol (Oxf)"},{"key":"BF6363929_CR37","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1530\/eje.0.1440347","volume":"144","author":"P Saugier-Veber","year":"2001","unstructured":"Saugier-Veber P, Drouot N, Wolf LM et al. Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy. Eur J Endocrinol 2001; 144: 347\u2013351.","journal-title":"Eur J Endocrinol"},{"key":"BF6363929_CR38","first-page":"460","volume":"85","author":"A Soderbergh","year":"2000","unstructured":"Soderbergh A, Rorsman F, Halonen M et al. Autoantibodies against aromatic L-amino acid decarboxylase identifies a subgroup of patients with Addison's disease. J Clin Endocrinol Metab 2000; 85: 460\u2013463.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR39","doi-asserted-by":"crossref","first-page":"4747","DOI":"10.1210\/jcem.86.10.7884","volume":"86","author":"F Cetani","year":"2001","unstructured":"Cetani F, Barbesino G, Borsari S et al. A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis. J Clin Endocrinol Metab 2001; 86: 4747\u20134752.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR40","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/humu.1176","volume":"18","author":"M Heino","year":"2001","unstructured":"Heino M, Peterson P, Kudoh, J et al. APECED mutations in the autoimmune regulator (AIRE) gene. Hum Mutat 2001; 18: 205\u2013211.","journal-title":"Hum Mutat"},{"key":"BF6363929_CR41","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1210\/jcem.87.2.8209","volume":"87","author":"A Meloni","year":"2002","unstructured":"Meloni A, Perniola R, Faa V et al. Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy patients from Southern Italy. J Clin Endocrinol Metab 2002; 87: 841\u2013846.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR42","doi-asserted-by":"crossref","first-page":"2568","DOI":"10.1210\/jcem.87.6.8564","volume":"87","author":"M Halonen","year":"2002","unstructured":"Halonen M, Eskelin P, Myhre AG et al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy phenotype. J Clin Endocrinol Metab 2002; 87: 2568\u20132574.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR43","first-page":"4434","volume":"85","author":"M Gylling","year":"2000","unstructured":"Gylling M, Tuomi T, Bjorses P et al. ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy. J Clin Endocrinol Metab 2000; 85: 4434\u20134440.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR44","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1046\/j.1365-2265.2001.01230.x","volume":"54","author":"G Meyer","year":"2001","unstructured":"Meyer G, Donner H, Herwig J et al. Screening for an AIRE-1 mutation in patients with Addison's disease type 1 diabetes Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome. Clin Endocrinol (Oxf) 2001; 54: 335\u2013338.","journal-title":"Clin Endocrinol (Oxf)"},{"key":"BF6363929_CR45","first-page":"1320","volume":"85","author":"R Nithiyananthan","year":"2000","unstructured":"Nithiyananthan R, Heward JM, Allahabadia A et al. A heterozygous deletion of the autoimmune regulator (AIRE1) gene autoimmune thyroid disease, and type 1 diabetes: no evidence for association. J Clin Endocrinol Metab 2000; 85: 1320\u20131322.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR46","first-page":"688","volume":"85","author":"B Vaidya","year":"2000","unstructured":"Vaidya B, Imrie H, Geatch DR et al. Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease. J Clin Endocrinol Metab 2000; 85: 688\u2013691.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6363929_CR47","doi-asserted-by":"crossref","first-page":"19\u2009597","DOI":"10.1074\/jbc.M008322200","volume":"276","author":"J Pitk\u00e4nen","year":"2001","unstructured":"Pitk\u00e4nen J, V\u00e4h\u00e4murto P, Krohn K, Peterson P . Subcellular localization of the autoimmune regulator protein: characterization of nuclear targeting and transcriptional activation domain. J Biol Chem 2001; 276: 19\u2009597\u201319\u2009602.","journal-title":"J Biol Chem"},{"key":"BF6363929_CR48","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/hmg\/8.2.259","volume":"8","author":"P Bj\u00f6rses","year":"1999","unstructured":"Bj\u00f6rses P, Pelto-Huikko M, Kaukonen J et al. Localization of the APECED protein in distinct nuclear structures. Hum Mol Genet 1999; 8: 259\u2013266.","journal-title":"Hum Mol Genet"},{"key":"BF6363929_CR49","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1093\/hmg\/8.2.277","volume":"8","author":"C Rinderle","year":"1999","unstructured":"Rinderle C, Christensen HM, Schweiger S, Lehrach H, Yaspo ML . AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers. Hum Mol Genet 1999; 8: 277\u2013290.","journal-title":"Hum Mol Genet"},{"key":"BF6363929_CR50","first-page":"M25\u2013M29","volume":"1288","author":"V Doucas","year":"1996","unstructured":"Doucas V, Evans RM . The PML nuclear compartment and cancer. Biochim Biophys Acta 1996; 1288: M25\u2013M29.","journal-title":"Biochim Biophys Acta"},{"key":"BF6363929_CR51","doi-asserted-by":"crossref","first-page":"6320","DOI":"10.1016\/S0021-9258(17)37374-X","volume":"269","author":"K Nishi","year":"1994","unstructured":"Nishi K, Yoshida M, Fujiwara D et al. Leptomycin B targets a regulatory cascade of crm1, a fission yeast nuclear protein, involved in control of higher order chromosome structure and gene expression. J Biol Chem 1994; 269: 6320\u20136324.","journal-title":"J Biol Chem"},{"key":"BF6363929_CR52","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1038\/36894","volume":"390","author":"M Fukuda","year":"1997","unstructured":"Fukuda M, Asano S, Nakamura T et al. CRM1 is responsible for intracellular transport mediated by the nuclear export signal. Nature 1997; 390: 308\u2013311.","journal-title":"Nature"},{"key":"BF6363929_CR53","doi-asserted-by":"crossref","first-page":"9112","DOI":"10.1073\/pnas.96.16.9112","volume":"96","author":"N Kudo","year":"1999","unstructured":"Kudo N, Matsumori N, Taoka H et al. Leptomycin B inactivates CRM1\/exportin 1 by covalent modification at a cysteine residue in the central conserved region. Proc Natl Acad Sci USA 1999; 96: 9112\u20139117.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF6363929_CR54","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/S0955-0674(97)80016-6","volume":"9","author":"S Nakielny","year":"1997","unstructured":"Nakielny S, Dreyfuss G . Nuclear export of proteins and RNAs. Curr Opin Cell Biol 1997; 9: 420\u2013429.","journal-title":"Curr Opin Cell Biol"},{"key":"BF6363929_CR55","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/S0955-0674(00)00100-9","volume":"12","author":"A Komeili","year":"2000","unstructured":"Komeili A, O'Shea EK . Nuclear transport and transcription. Curr Opin Cell Biol 2000; 12: 355\u2013360.","journal-title":"Curr Opin Cell Biol"},{"key":"BF6363929_CR56","doi-asserted-by":"crossref","first-page":"38\u2009589","DOI":"10.1074\/jbc.M003851200","volume":"275","author":"JA Rodriguez","year":"2000","unstructured":"Rodriguez JA, Henderson BR . Identification of a functional nuclear export sequence in BRCA1. J Biol Chem 2000; 275: 38\u2009589\u201338\u2009596.","journal-title":"J Biol Chem"},{"key":"BF6363929_CR57","doi-asserted-by":"crossref","first-page":"11\u2009237","DOI":"10.1074\/jbc.M011112200","volume":"276","author":"CT Baumann","year":"2001","unstructured":"Baumann CT, Maruvada P, Hager GL, Yen PM . Nuclear cytoplasmic shuttling by thyroid hormone receptors: multiple protein interactions are required for nuclear retention. J Biol Chem 2001; 276: 11\u2009237\u201311\u2009245.","journal-title":"J Biol Chem"},{"key":"BF6363929_CR58","doi-asserted-by":"crossref","first-page":"7457","DOI":"10.1073\/pnas.95.13.7457","volume":"95","author":"S Taagepera","year":"1998","unstructured":"Taagepera S, McDonald D, Loeb JE et al. Nuclear\u2013cytoplasmic shuttling of C-ABL tyrosine kinase. Proc Natl Acad Sci USA 1998; 95: 7457\u20137462.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF6363929_CR59","doi-asserted-by":"crossref","first-page":"1660","DOI":"10.1093\/emboj\/18.6.1660","volume":"18","author":"JM Stommel","year":"1999","unstructured":"Stommel JM, Marchenko ND, Jimenez GS et al. A leucine-rich nuclear export signal in the p53 tetramerization domain: regulation of subcellular localization and p53 activity by NES masking. EMBO J 1999; 18: 1660\u20131672.","journal-title":"EMBO J"},{"key":"BF6363929_CR60","doi-asserted-by":"crossref","first-page":"15\u2009299","DOI":"10.1073\/pnas.93.26.15299","volume":"93","author":"SS Kim","year":"1996","unstructured":"Kim SS, Chen YM, O'Leary E et al. A novel member of the RING finger family, KRIP-1, associates with the KRAB-A transcriptional repressor domain of zinc finger proteins. Proc Natl Acad Sci USA 1996; 93: 15\u2009299\u201315\u2009304.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF6363929_CR61","doi-asserted-by":"crossref","first-page":"1730","DOI":"10.1172\/JCI118218","volume":"96","author":"Q Ge","year":"1995","unstructured":"Ge Q, Nilasena DS, O'Brien CA, Frank MB, Targoff IN . Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen. J Clin Invest 1995; 96: 1730\u20131737.","journal-title":"J Clin Invest"},{"key":"BF6363929_CR62","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1038\/ng1097-146","volume":"17","author":"RJ Gibbons","year":"1997","unstructured":"Gibbons RJ, Bachoo S, Picketts DJ et al. Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet 1997; 17: 146\u2013148.","journal-title":"Nat Genet"},{"key":"BF6363929_CR63","first-page":"2137","volume":"13","author":"S Thenot","year":"1999","unstructured":"Thenot S, Bonnet S, Boulahtouf A et al. Effect of ligand and DNA binding on the interaction between human transcription intermediary factor 1alpha and estrogen receptors. Mol Endocrinol 1999; 13: 2137\u20132150.","journal-title":"Mol Endocrinol"},{"key":"BF6363929_CR64","doi-asserted-by":"crossref","first-page":"7286","DOI":"10.1073\/pnas.94.14.7286","volume":"94","author":"T Yano","year":"1997","unstructured":"Yano T, Nakamura T, Blechman J et al. Nuclear punctate distribution of ALL-1 is conferred by distinct elements at the N terminus of the protein. Proc Natl Acad Sci USA 1997; 94: 7286\u20137291.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF6363929_CR65","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/S0968-0004(98)01231-6","volume":"23","author":"TJ Gibson","year":"1998","unstructured":"Gibson TJ, Ramu C, Gemund C, Aasland R . The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor. Trends Biochem Sci 1998; 23: 242\u2013244.","journal-title":"Trends Biochem Sci"},{"key":"BF6363929_CR66","doi-asserted-by":"crossref","first-page":"16\u2009802","DOI":"10.1074\/jbc.M908944199","volume":"275","author":"J Pitkanen","year":"2000","unstructured":"Pitkanen J, Doucas V, Sternsdorf T et al. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J Biol Chem 2000; 275: 16\u2009802\u201316\u2009809.","journal-title":"J Biol Chem"},{"key":"BF6363929_CR67","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1126\/science.280.5363.547","volume":"280","author":"AI Lamond","year":"1998","unstructured":"Lamond AI, Earnshaw WC . Structure and function in the nucleus. Science 1998; 280: 547\u2013553.","journal-title":"Science"},{"key":"BF6363929_CR68","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1016\/S0960-9822(02)00636-X","volume":"6","author":"R Janknecht","year":"1996","unstructured":"Janknecht R, Hunter T . Versatile molecular glue. Transcriptional control. Curr Biol 1996; 6: 951\u2013954.","journal-title":"Curr Biol"},{"key":"BF6363929_CR69","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0092-8674(00)81118-6","volume":"85","author":"Y Kamei","year":"1996","unstructured":"Kamei Y, Xu L, Heinzel T et al. A CBP integrator complex mediates transcriptional activation and AP-1 inhibition by nuclear receptors. Cell 1996; 85: 403\u2013414.","journal-title":"Cell"},{"key":"BF6363929_CR70","first-page":"103","volume":"52","author":"PS Goldman","year":"1997","unstructured":"Goldman PS, Tran VK, Goodman RH . The multifunctional role of the co-activator CBP in transcriptional regulation. Recent Prog Horm Res 1997; 52: 103\u2013119.","journal-title":"Recent Prog Horm Res"},{"key":"BF6363929_CR71","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/383099a0","volume":"383","author":"D Chakravarti","year":"1996","unstructured":"Chakravarti D, LaMorte VJ, Nelson MC et al. Role of CBP\/P300 in nuclear receptor signalling. Nature 1996; 383: 99\u2013103.","journal-title":"Nature"},{"key":"BF6363929_CR72","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/42750","volume":"387","author":"DM Heery","year":"1997","unstructured":"Heery DM, Kalkhoven E, Hoare S, Parker MG . A signature motif in transcriptional co-activators mediates binding to nuclear receptors. Nature 1997; 387: 733\u2013736.","journal-title":"Nature"},{"key":"BF6363929_CR73","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/383344a0","volume":"383","author":"S Bhattacharya","year":"1996","unstructured":"Bhattacharya S, Eckner R, Grossman S et al. Cooperation of Stat2 and p300\/CBP in signalling induced by interferon- alpha. Nature 1996; 383: 344\u2013347.","journal-title":"Nature"},{"key":"BF6363929_CR74","doi-asserted-by":"crossref","first-page":"12\u2009969","DOI":"10.1073\/pnas.93.23.12969","volume":"93","author":"Z Arany","year":"1996","unstructured":"Arany Z, Huang LE, Eckner R et al. An essential role for p300\/CBP in the cellular response to hypoxia. Proc Natl Acad Sci USA 1996; 93: 12\u2009969\u201312\u2009973.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF6363929_CR75","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/374085a0","volume":"374","author":"JR Lundblad","year":"1995","unstructured":"Lundblad JR, Kwok RP, Laurance ME, Harter ML, Goodman RH . Adenoviral E1A-associated protein p300 as a functional homologue of the transcriptional co-activator CBP. Nature 1995; 374: 85\u201388.","journal-title":"Nature"},{"key":"BF6363929_CR76","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/382319a0","volume":"382","author":"XJ Yang","year":"1996","unstructured":"Yang XJ, Ogryzko VV, Nishikawa J, Howard BH, Nakatani Y . A p300\/CBP-associated factor that competes with the adenoviral oncoprotein E1A. Nature 1996; 382: 319\u2013324.","journal-title":"Nature"},{"key":"BF6363929_CR77","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/S0092-8674(00)80516-4","volume":"90","author":"H Chen","year":"1997","unstructured":"Chen H, Lin RJ, Schiltz RL et al. Nuclear receptor coactivator ACTR is a novel histone acetyltransferase and forms a multimeric activation complex with P\/CAF and CBP\/p300. Cell 1997; 90: 569\u2013580.","journal-title":"Cell"},{"key":"BF6363929_CR78","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1093\/emboj\/17.2.507","volume":"17","author":"JJ Voegel","year":"1998","unstructured":"Voegel JJ, Heine MJ, Tini M et al. The coactivator TIF2 contains three nuclear receptor-binding motifs and mediates transactivation through CBP binding-dependent and -independent pathways. Embo J 1998; 17: 507\u2013519.","journal-title":"Embo J"},{"key":"BF6363929_CR79","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1016\/S0092-8674(00)82001-2","volume":"87","author":"VV Ogryzko","year":"1996","unstructured":"Ogryzko VV, Schiltz RL, Russanova V, Howard BH, Nakatani Y . The transcriptional coactivators p300 and CBP are histone acetyltransferases. Cell 1996; 87: 953\u2013959.","journal-title":"Cell"},{"key":"BF6363929_CR80","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1038\/384641a0","volume":"384","author":"AJ Bannister","year":"1996","unstructured":"Bannister AJ, Kouzarides T . The CBP co-activator is a histone acetyltransferase. Nature 1996; 384: 641\u2013643.","journal-title":"Nature"},{"key":"BF6363929_CR81","doi-asserted-by":"crossref","first-page":"2627","DOI":"10.1073\/pnas.96.6.2627","volume":"96","author":"V Doucas","year":"1999","unstructured":"Doucas V, Tini M, Egan DA, Evans RM . Modulation of CREB binding protein function by the promyelocytic (PML) oncoprotein suggests a role for nuclear bodies in hormone signaling. Proc Natl Acad Sci USA 1999; 96: 2627\u20132632.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF6363929_CR82","doi-asserted-by":"crossref","first-page":"2363","DOI":"10.1242\/jcs.114.13.2363","volume":"114","author":"HM Chan","year":"2001","unstructured":"Chan HM, La Thangue NB . p300\/CBP proteins: HATs for transcriptional bridges and scaffolds. J Cell Sci 2001; 114: 2363\u20132373.","journal-title":"J Cell Sci"},{"key":"BF6363929_CR83","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1210\/mend.12.10.0181","volume":"12","author":"JI Huggenvik","year":"1998","unstructured":"Huggenvik JI, Michelson RJ, Collard MW et al. Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein. Mol Endocrinol 1998; 12: 1619\u20131639.","journal-title":"Mol Endocrinol"},{"key":"BF6363929_CR84","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1038\/89675","volume":"8","author":"MJ Bottomley","year":"2001","unstructured":"Bottomley MJ, Collard MW, Huggenvik JI et al. The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation. Nat Struct Biol 2001; 8: 626\u2013633.","journal-title":"Nat Struct Biol"},{"key":"BF6363929_CR85","doi-asserted-by":"crossref","first-page":"41\u2009357","DOI":"10.1074\/jbc.M104898200","volume":"276","author":"PG Kumar","year":"2001","unstructured":"Kumar PG, Laloraya M, Wang CY et al. The autoimmune regulator (AIRE) is a DNA-binding protein. J Biol Chem 2001; 276: 41\u2009357\u201341\u2009364.","journal-title":"J Biol Chem"},{"key":"BF6363929_CR86","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1038\/ni723","volume":"2","author":"J Derbinski","year":"2001","unstructured":"Derbinski J, Schulte A, Kyewski B, Klein L . Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self. Nat Immunol 2001; 2: 1032\u20131039.","journal-title":"Nat Immunol"},{"key":"BF6363929_CR87","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/S1471-4906(02)02248-2","volume":"23","author":"B Kyewski","year":"2002","unstructured":"Kyewski B, Derbinski J, Gotter J, Klein L . Promiscuous gene expression and central T-cell tolerance: more than meets the eye. Trends Immunol 2002; 23: 364\u2013371.","journal-title":"Trends Immunol"},{"key":"BF6363929_CR88","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/ni0402-335a","volume":"3","author":"M Pietropaolo","year":"2002","unstructured":"Pietropaolo M, Giannoukakis N, Trucco M . Cellular environment and freedom of gene expression. Nat Immunol 2002; 3: 335; discussion 336.","journal-title":"Nat Immunol"},{"key":"BF6363929_CR89","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/ni0402-335b","volume":"3","author":"A Pugliese","year":"2002","unstructured":"Pugliese A, Diez J . Lymphoid organs contain diverse cells expressing self-molecules. Nat Immunol 2002; 3: 335\u2013336; discussion 336.","journal-title":"Nat Immunol"},{"key":"BF6363929_CR90","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1385\/IR:21:2-3:315","volume":"21","author":"H Kishimoto","year":"2000","unstructured":"Kishimoto H, Sprent J . The thymus and negative selection. Immunol Res 2000; 21: 315\u2013323.","journal-title":"Immunol Res"},{"key":"BF6363929_CR91","doi-asserted-by":"crossref","first-page":"3577","DOI":"10.4049\/jimmunol.163.7.3577","volume":"163","author":"DM Page","year":"1999","unstructured":"Page DM . Cutting edge: thymic selection and autoreactivity are regulated by multiple coreceptors involved in T cell activation. J Immunol 1999; 163: 3577\u20133581.","journal-title":"J Immunol"},{"key":"BF6363929_CR92","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1146\/annurev.immunol.16.1.111","volume":"16","author":"IS Grewal","year":"1998","unstructured":"Grewal IS, Flavell RA . CD40 and CD154 in cell-mediated immunity. Annu Rev Immunol 1998; 16: 111\u2013135.","journal-title":"Annu Rev Immunol"},{"key":"BF6363929_CR93","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/S0092-8674(00)81031-4","volume":"84","author":"R Amakawa","year":"1996","unstructured":"Amakawa R, Hakem A, Kundig TM et al. Impaired negative selection of T cells in Hodgkin's disease antigen CD30-deficient mice. Cell 1996; 84: 551\u2013562.","journal-title":"Cell"},{"key":"BF6363929_CR94","doi-asserted-by":"crossref","first-page":"3323","DOI":"10.1182\/blood.V91.9.3323","volume":"91","author":"P Romagnani","year":"1998","unstructured":"Romagnani P, Annunziato F, Manetti R et al. High CD30 ligand expression by epithelial cells and Hassal's corpuscles in the medulla of human thymus. Blood 1998; 91: 3323\u20133332.","journal-title":"Blood"},{"key":"BF6363929_CR95","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S1471-4906(01)01889-0","volume":"22","author":"F Annunziato","year":"2001","unstructured":"Annunziato F, Romagnani P, Cosmi L, Lazzeri E, Romagnani S . Chemokines and lymphopoiesis in human thymus. Trends Immunol 2001; 22: 277\u2013281.","journal-title":"Trends Immunol"},{"key":"BF6363929_CR96","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1038\/86283","volume":"2","author":"S Sakaguchi","year":"2001","unstructured":"Sakaguchi S . Policing the regulators. Nat Immunol 2001; 2: 283\u2013284.","journal-title":"Nat Immunol"},{"key":"BF6363929_CR97","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1093\/hmg\/11.4.397","volume":"11","author":"C Ramsey","year":"2002","unstructured":"Ramsey C, Winqvist O, Puhakka L et al. Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet 2002; 11: 397\u2013409.","journal-title":"Hum Mol Genet"},{"key":"BF6363929_CR98","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/S1471-4906(02)02248-2","volume":"23","author":"B Kyewski","year":"2002","unstructured":"Kyewski B, Derbinski J, Gotter J, Klein L . Promiscuous gene expression and central T-cell tolerance: more than meets the eye. Trends Immunol 2002; 23: 364\u2013371.","journal-title":"Trends Immunol"}],"container-title":["Genes &amp; Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/6363929.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/6363929","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/6363929.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T04:27:05Z","timestamp":1704774425000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/6363929"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,1,1]]},"references-count":98,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,1,1]]}},"alternative-id":["BF6363929"],"URL":"https:\/\/doi.org\/10.1038\/sj.gene.6363929","relation":{},"ISSN":["1466-4879","1476-5470"],"issn-type":[{"value":"1466-4879","type":"print"},{"value":"1476-5470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,1,1]]},"assertion":[{"value":"16 January 2003","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}