{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:06:57Z","timestamp":1787022417778,"version":"build-2736575974"},"reference-count":40,"publisher":"Japan Endocrine Society","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2002]]},"DOI":"10.1507\/endocrj.49.625","type":"journal-article","created":{"date-parts":[[2003,9,10]],"date-time":"2003-09-10T04:52:38Z","timestamp":1063169558000},"page":"625-633","source":"Crossref","is-referenced-by-count":36,"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."],"prefix":"10.1507","volume":"49","author":[{"given":"KANJI","family":"SATO","sequence":"first","affiliation":[{"name":"Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women\u2019s Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KISHIKO","family":"NAKAJIMA","sequence":"additional","affiliation":[{"name":"Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women\u2019s Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HIDEHITO","family":"IMAMURA","sequence":"additional","affiliation":[{"name":"Imamura Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TAKAHISA","family":"DEGUCHI","sequence":"additional","affiliation":[{"name":"Kagoshima City Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SHUUJI","family":"HORINOUCHI","sequence":"additional","affiliation":[{"name":"Kagoshima City Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KAZUKO","family":"YAMAZAKI","sequence":"additional","affiliation":[{"name":"Thyroid Disease Institute, Kanaji Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EMIKO","family":"YAMADA","sequence":"additional","affiliation":[{"name":"Thyroid Disease Institute, Kanaji Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YOSHIO","family":"KANAJI","sequence":"additional","affiliation":[{"name":"Thyroid Disease Institute, Kanaji Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KAZUE","family":"TAKANO","sequence":"additional","affiliation":[{"name":"Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women\u2019s Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"386","reference":[{"key":"1","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1056\/NEJM199006283222601","volume":"322","author":"Ahonen P, Myllarniemi S, Sipila I,","year":"1990","journal-title":"N Engl J Med","ISSN":"https:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"key":"2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00109-001-0306-2","volume":"80","author":"Vogel A, Strassburg CP, Obermayer-S","year":"2002","journal-title":"J Mol Med","ISSN":"https:\/\/id.crossref.org\/issn\/0377-046X","issn-type":"print"},{"issue":"4","key":"3","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng1297-393","volume":"17","year":"1997","journal-title":"Nat Genet","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"4","key":"4","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/ng1297-399","volume":"17","year":"1997","journal-title":"Nat Genet","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1176"},{"key":"6","first-page":"879","volume":"59","author":"Bj&ouml;rses P, Aaltonen J, Vik","year":"1996","journal-title":"Am J Human Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1086\/302145"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1178"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.12.4204"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050846"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1210\/me.12.8.1112"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.3.844"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2001.01201.x"},{"key":"15","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1530\/eje.0.1440347","volume":"144","author":"Saugier-Veber P, Drouot N, Wolf LM,","year":"2001","journal-title":"Eur J Endocrinol","ISSN":"https:\/\/id.crossref.org\/issn\/0804-4643","issn-type":"print"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.8.2922"},{"key":"17","unstructured":"17. Nakajima K, Deguchi N, Imamura H, Sato K, Takano K (2001) Gene analysis of AIRE in a family of autoimmune polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED). The 74<SUP>th<\/SUP> Annual Meeting of the Japan Endocrine Society, p. 319, July (abstract)."},{"key":"18","first-page":"527","volume":"18","author":"Matsumoto T, Isoda M, Urabe H, Wata","year":"1976","journal-title":"Hihu-rinsho"},{"key":"19","first-page":"501","volume":"32","author":"Segawa F, Yamada H, Tomi H, Sunohar","year":"1992","journal-title":"Rinsho Shinkei"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1016\/0169-6009(89)90051-2"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.11.5564"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1086\/302765"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M104898200"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M008322200"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01231-6"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.18.12555"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.2.688"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2001.01230.x"},{"key":"29","unstructured":"29. Kato K, Ibayashi, H (1983) Annual Report of the Ministry, Health and Welfare &ldquo;Disorders of Adrenal Hormones&rdquo; Research Committee, Japan, Publication from the Ministry of Public Welfare of Japan, p. 6-61."},{"key":"30","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1182\/blood.V75.4.941.941","volume":"75","author":"Hara T, Mizuno Y, Nagata M, Okabe Y","year":"1990","journal-title":"Blood","ISSN":"https:\/\/id.crossref.org\/issn\/0006-4971","issn-type":"print"},{"issue":"6","key":"31","first-page":"1171","volume":"59","author":"ANDO KAZUKO","year":"1987","journal-title":"Naika","ISSN":"https:\/\/id.crossref.org\/issn\/0022-1961","issn-type":"print"},{"issue":"1","key":"32","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1507\/endocrine1927.71.1_65","volume":"71","author":"ISOTANI HARUHIKO","year":"1995","journal-title":"Folia Endocrinol Jpn","ISSN":"https:\/\/id.crossref.org\/issn\/0029-0661","issn-type":"print"},{"key":"33","first-page":"184","volume":"43 (Suppl.)","author":"Nakatsuru K, Toshimori K, Matsukura","year":"1995","journal-title":"Horumon to Rinsho","ISSN":"https:\/\/id.crossref.org\/issn\/0045-7167","issn-type":"print"},{"issue":"6","key":"34","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1507\/endocrine1927.70.6_609","volume":"70","author":"SUMIDA YASUHIRO","year":"1994","journal-title":"Folia Endocrinol Jpn","ISSN":"https:\/\/id.crossref.org\/issn\/0029-0661","issn-type":"print"},{"key":"35","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1007\/BF03345481","volume":"22","author":"Franzese A, Valerio G, Di Maio S, I","year":"1999","journal-title":"J Endocrinol Invest","ISSN":"https:\/\/id.crossref.org\/issn\/0391-4097","issn-type":"print"},{"issue":"2","key":"36","doi-asserted-by":"crossref","first-page":"122","DOI":"10.2169\/internalmedicine1962.18.122","volume":"18","author":"MATSUMOTO Toshio","year":"1979","journal-title":"Jpn J Med","ISSN":"https:\/\/id.crossref.org\/issn\/0021-5120","issn-type":"print"},{"key":"37","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N"},{"key":"38","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1136\/jmg.29.11.824","volume":"29","author":"Zlotogora J, Shapiro MS","year":"1992","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"39","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/j.1399-0004.1985.tb02037.x","volume":"27","author":"Ahonen P","year":"1985","journal-title":"Clin Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"key":"40","first-page":"139","volume":"70","author":"Evans RA, Carter JN, Shenston B, Sm","year":"1989","journal-title":"Q J Med","ISSN":"https:\/\/id.crossref.org\/issn\/0033-5622","issn-type":"print"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.jstage.jst.go.jp\/article\/endocrj\/49\/6\/49_6_625\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T01:53:50Z","timestamp":1618278830000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.jstage.jst.go.jp\/article\/endocrj\/49\/6\/49_6_625\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002]]},"references-count":40,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2002]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.49.625","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002]]}}}