{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T14:28:51Z","timestamp":1776781731204,"version":"3.51.2"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,8,7]],"date-time":"2003-08-07T00:00:00Z","timestamp":1060214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The optineurin gene (<jats:italic>OPTN<\/jats:italic>) was identified as a gene that causes primary open\u2010angle glaucoma (POAG) and normal tension glaucoma (NTG). To investigate the frequency of sequence changes in <jats:italic>OPTN<\/jats:italic> in Japanese glaucoma patients, single\u2010strand conformation polymorphism analysis and subsequent sequence analysis were performed for genotyping <jats:italic>OPTN<\/jats:italic> in 165 unrelated Japanese patients with POAG and 148 patients with NTG, with 196 control subjects without glaucoma as reference subjects. Out of four mutations reported to be associated with risk and to cause disease in Caucasian patients, sequence alterations in 458G\u2009&gt;\u2009A and 691_692insAG were not detected in any investigated Japanese patients with glaucoma, and alterations in 1944G\u2009&gt;\u2009A and 603T\u2009&gt;\u2009A, were present in similar frequencies in glaucoma patients and control subjects. The current results suggest that there may be certain racial differences between Japanese and Caucasians with respect to <jats:italic>OPTN<\/jats:italic> genotypes. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20439","type":"journal-article","created":{"date-parts":[[2004,1,27]],"date-time":"2004-01-27T09:00:29Z","timestamp":1075194029000},"page":"1-4","source":"Crossref","is-referenced-by-count":33,"title":["Mutations in the optineurin gene in Japanese patients with primary open\u2010angle glaucoma and normal tension glaucoma"],"prefix":"10.1002","volume":"125A","author":[{"given":"Yoshiki","family":"Toda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sa","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Kashiwagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumihiko","family":"Mabuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Iijima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeo","family":"Tsukahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zentaro","family":"Yamagata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,8,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.5.899"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4682"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590408.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.80.5.389"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1066901"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/301767"},{"key":"e_1_2_7_8_1","first-page":"133","article-title":"Epidemiology of glaucoma in Japan\u2014A nationwide glaucoma survey","volume":"35","author":"Shiose Y","year":"1991","journal-title":"Jpn J Ophthalmol"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.275.5300.668"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20439","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20439","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T17:22:43Z","timestamp":1697649763000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20439"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,7]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,2,15]]}},"alternative-id":["10.1002\/ajmg.a.20439"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20439","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,7]]}}}