{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:20:53Z","timestamp":1787062853981,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T00:00:00Z","timestamp":1640563200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP18K16046"],"award-info":[{"award-number":["JP18K16046"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP19K08742"],"award-info":[{"award-number":["JP19K08742"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["20FC1052"],"award-info":[{"award-number":["20FC1052"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008040","name":"Kao Corporation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008040","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004322","name":"Shiseido Group","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Oculocutaneous albinism (OCA) 6 is a non\u2010syndromic type of OCA that has distinct ocular symptoms and variable cutaneous hypopigmentation. The causative gene of OCA6 is\n                    <jats:italic>SLC24A5<\/jats:italic>\n                    , which encodes NCKX5, a K\n                    <jats:sup>+<\/jats:sup>\n                    \u2010dependent Na\n                    <jats:sup>+<\/jats:sup>\n                    \/Ca\n                    <jats:sup>2+<\/jats:sup>\n                    exchanger 5. NCKX5 is involved in the maturation of melanosomes, but its function is still unclear. In this study, we characterized a Japanese patient with OCA6. Genetic analysis revealed compound heterozygous variants in\n                    <jats:italic>SLC24A5<\/jats:italic>\n                    , c.590\u00a0+\u00a01dupG, and c.598G&gt;A (p.G200R). To clarify the functional significance of the missense variant, we generated a knock\u2010in (KI) mouse model carrying the mouse homolog of the G200R variant using the CRISPR\/Cas9\u00a0system. Chemical analysis showed decreased amounts of eumelanin in the hair and skin of KI mice, while levels of benzothiazine units in pheomelanin were significantly increased in their hair. Retinal pigment was also decreased in KI mice. Notably, a histopathologic study revealed a significant pigment loss in the retinal pigment epithelium (RPE) but not in the choroid. Immunohistochemically, the expression of NCKX5 in the RPE was decreased but was maintained in the choroid of KI mice. These findings could explain the difference in phenotypic severity between eye symptoms and hypopigmentation in the skin\/hair.\n                  <\/jats:p>","DOI":"10.1111\/pcmr.13024","type":"journal-article","created":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T09:44:21Z","timestamp":1638783861000},"page":"212-219","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Impact of a\n                    <i>SLC24A5<\/i>\n                    variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3769-8361","authenticated-orcid":false,"given":"Toru","family":"Saito","sequence":"first","affiliation":[{"name":"Department of Dermatology Yamagata University Faculty of Medicine Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7366-3233","authenticated-orcid":false,"given":"Ken","family":"Okamura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yamagata University Faculty of Medicine Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4367-6129","authenticated-orcid":false,"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Medical Subspecialties National Center for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1748-9001","authenticated-orcid":false,"given":"Kazumasa","family":"Wakamatsu","sequence":"additional","affiliation":[{"name":"Institute for Melanin Chemistry Fujita Health University Toyoake Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9182-5144","authenticated-orcid":false,"given":"Shosuke","family":"Ito","sequence":"additional","affiliation":[{"name":"Institute for Melanin Chemistry Fujita Health University Toyoake Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9352-2446","authenticated-orcid":false,"given":"Osamu","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Research Center for Molecular Genetics Institute for Promotion of Medical Science Research Yamagata University Faculty of Medicine Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidetoshi","family":"Yamashita","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Yssamagata University Faculty of Medicine Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Hozumi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yamagata University Faculty of Medicine Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4669-9721","authenticated-orcid":false,"given":"Tamio","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yamagata University Faculty of Medicine Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,12,27]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12425"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12121"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M707521200"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep11315"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755\u2010148X.2011.00864.x"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600\u20100749.2003.00072.x"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.24025"},{"issue":"2","key":"e_1_2_10_9_1","first-page":"13","article-title":"Albinism and its implications with vision","volume":"34","author":"Kirkwood B. J.","year":"2009","journal-title":"Insight"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12688"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.360"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.14670\/HH\u201021.567"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12662"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12800"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12927"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12723"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiol.00043.2011"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00021.2004"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30036"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.11.012"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1354\/vp.45\u20102\u2010264"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600\u20100749.2002.02009.x"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12748"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.49"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.15065"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.232009"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.13024","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pcmr.13024","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.13024","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T00:45:41Z","timestamp":1693097141000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.13024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,27]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1111\/pcmr.13024"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.13024","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,27]]},"assertion":[{"value":"2021-09-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}