{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T15:28:02Z","timestamp":1769700482904,"version":"3.49.0"},"reference-count":51,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T00:00:00Z","timestamp":1766361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T00:00:00Z","timestamp":1766361600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012190","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":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We present a comprehensive molecular and epidemiological analysis of albinism in a Russian cohort, comprising 177 probands with isolated (OCA1, OCA2, OCA3, OCA4, and OA) and syndromic (HPS\u2010associated) forms of the disease. The comparative analysis of population frequencies between the National Genetic Initiative \u201c100,000\u2009+\u2009Me\u201d (NGI) project and GnomAD (v3.1.2) revealed variants in the\n                    <jats:italic>TYR<\/jats:italic>\n                    gene (NM_000372.5):c.650G&gt;A and c.1037\u20107\u2009T&gt;A, which are specifically prevalent in the Russian population. The functional analysis was provided for variants in the\n                    <jats:italic>TYR<\/jats:italic>\n                    gene, which can probably affect splicing. Based on the population frequency in the NGI project, we calculated the minimal estimated disease frequencies for isolated forms of albinism. Using molecular genetic results, functional analysis, and ACMG classification, the diagnosis was confirmed in 71.8% (127\/177) of the cases in the Russian cohort.\n                  <\/jats:p>","DOI":"10.1111\/pcmr.70069","type":"journal-article","created":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T17:57:36Z","timestamp":1766426256000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1326-8706","authenticated-orcid":false,"given":"Sofya","family":"Ionova","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0972-5118","authenticated-orcid":false,"given":"Andrey","family":"Marakhonov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vitaliy","family":"Kadyshev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Kuznetsova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatyana","family":"Vasilyeva","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Stepanova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4905-1303","authenticated-orcid":false,"given":"Olga","family":"Shchagina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantin","family":"Severinov","sequence":"additional","affiliation":[{"name":"LLC \u201cBiotech Campus\u201d  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolay","family":"Chekanov","sequence":"additional","affiliation":[{"name":"LLC \u201cBiotech Campus\u201d  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-9238-2356","authenticated-orcid":false,"given":"Evgeniya","family":"Osipova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Filatova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikhail","family":"Skoblov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rena","family":"Zinchenko","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,22]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"crossref","unstructured":"Abramson J. 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