{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T17:53:25Z","timestamp":1765994005601},"reference-count":20,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Endocrinology"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by gynecomastia. This condition is caused by overexpression of<jats:italic>CYP19A1<\/jats:italic>encoding aromatase, and three types of cryptic genomic rearrangement around<jats:italic>CYP19A1<\/jats:italic>, that is, duplications, deletions, and inversions, have been identified in AEXS. Duplications appear to have caused<jats:italic>CYP19A1<\/jats:italic>overexpression because of an increased number of physiological promoters, whereas deletions and inversions would have induced wide<jats:italic>CYP19A1<\/jats:italic>expression due to the formation of chimeric genes consisting of a noncoding exon(s) of a neighboring gene and<jats:italic>CYP19A1<\/jats:italic>coding exons. Genotype-phenotype analysis implies that phenotypic severity of AEXS is primarily determined by the expression pattern of<jats:italic>CYP19A1<\/jats:italic>and the chimeric genes and by the structural property of the fused exons with a promoter function (i.e., the presence or the absence of a natural translation start codon). These results provide novel information about molecular mechanisms of human genetic disorders and biological function of estrogens.<\/jats:p>","DOI":"10.1155\/2012\/584807","type":"journal-article","created":{"date-parts":[[2012,1,26]],"date-time":"2012-01-26T21:01:37Z","timestamp":1327611697000},"page":"1-8","source":"Crossref","is-referenced-by-count":9,"title":["Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome"],"prefix":"10.1155","volume":"2012","author":[{"given":"Maki","family":"Fukami","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makio","family":"Shozu","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba City 206-8670, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan"},{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Shizuoka, Hamamatsu 431-3192, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","first-page":"645","volume-title":"Testicular disorders","year":"2008"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa021559"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm145"},{"issue":"6","key":"4","doi-asserted-by":"crossref","first-page":"E1035","DOI":"10.1210\/jc.2011-0145","volume":"96","year":"2011","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1566"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021780"},{"key":"7","doi-asserted-by":"crossref","first-page":"4184","DOI":"10.1210\/jc.2004-2176","volume":"90","year":"2005","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.4.1348"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.10.4600"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-823022"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1177\/1933719108322441"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.23.11312"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-823023"},{"key":"14","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1210\/jcem-22-12-1201","volume":"22","year":"1962","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"6","key":"15","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1172\/JCI111888","volume":"75","year":"1985","journal-title":"The Journal of Clinical Investigation"},{"key":"16","volume":"1, article 4","year":"2008","journal-title":"Pathogenetics"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.109.077206"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2826.1993.tb00526.x"},{"issue":"5","key":"19","doi-asserted-by":"crossref","first-page":"2282","DOI":"10.1016\/S0021-9258(18)34918-4","volume":"257","year":"1982","journal-title":"Journal of Biological Chemistry"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-201"}],"container-title":["International Journal of Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2012\/584807.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2012\/584807.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2012\/584807.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T02:24:48Z","timestamp":1640571888000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/ije\/2012\/584807\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":20,"alternative-id":["584807","584807"],"URL":"https:\/\/doi.org\/10.1155\/2012\/584807","relation":{},"ISSN":["1687-8337","1687-8345"],"issn-type":[{"value":"1687-8337","type":"print"},{"value":"1687-8345","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}