{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T17:26:07Z","timestamp":1784827567107,"version":"3.55.0"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,3,9]],"date-time":"2005-03-09T00:00:00Z","timestamp":1110326400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Research"],"published-print":{"date-parts":[[2005,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Tyrosinase serves as a key enzyme in the synthesis of melanin. In humans mutations in the <jats:italic>TYR<\/jats:italic> gene are associated with type 1 oculocutaneous albinism (OCA1) that leads to reduced or absent pigmentation of skin, hair and eye. Various mutations causing OCA in man, mouse, rabbit and cattle have been identified throughout the <jats:italic>Tyrosinase<\/jats:italic> gene including nonsense, missense, frameshift and splice site alterations. Here we report a missense substitution at codon R299H in exon 2 of the <jats:italic>Tyr<\/jats:italic> gene in the albino Wistar rat. As this very exchange has already been described in OCA patients, our findings reinforce the significance of this region for normal catalytic activity of tyrosinase protein.<\/jats:p>","DOI":"10.1111\/j.1600-0749.2005.00227.x","type":"journal-article","created":{"date-parts":[[2005,3,10]],"date-time":"2005-03-10T00:05:27Z","timestamp":1110413127000},"page":"144-145","source":"Crossref","is-referenced-by-count":58,"title":["A <i>Tyrosinase<\/i> missense mutation causes albinism in the Wistar rat"],"prefix":"10.1111","volume":"18","author":[{"given":"Wanda M.","family":"Blaszczyk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larissa","family":"Arning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus\u2010Peter","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joerg T.","family":"Epplen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,3,9]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003350010120"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-004-4002-8"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.42.26226"},{"key":"e_1_2_3_5_1","first-page":"586","article-title":"Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel","volume":"54","author":"Gershoni\u2010Baruch R.","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90409-8"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi011535n"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-002-2249-5"}],"container-title":["Pigment Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0749.2005.00227.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0749.2005.00227.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T19:48:10Z","timestamp":1697312890000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0749.2005.00227.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,9]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["10.1111\/j.1600-0749.2005.00227.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0749.2005.00227.x","archive":["Portico"],"relation":{},"ISSN":["0893-5785","1600-0749"],"issn-type":[{"value":"0893-5785","type":"print"},{"value":"1600-0749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,9]]}}}