{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T21:04:28Z","timestamp":1763499868145,"version":"build-2065373602"},"reference-count":17,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"vor","delay-in-days":366,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["BE 2346\/4-2","EXC2151 \u2013 390873048"],"award-info":[{"award-number":["BE 2346\/4-2","EXC2151 \u2013 390873048"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010385","name":"Christine K\u00fchne \u2013 Center for Allergy Research and Education","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010385","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2024,1]]},"DOI":"10.1016\/j.jid.2023.04.036","type":"journal-article","created":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T11:06:54Z","timestamp":1689592014000},"page":"181-184","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease"],"prefix":"10.1016","volume":"144","author":[{"given":"Sheetal","family":"Kumar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oleg","family":"Borisov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Maj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damian J.","family":"Ralser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aytaj","family":"Humbatova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Hanneken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid","family":"Schmieder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janina","family":"Gro\u00df","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Maintz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre","family":"Heineke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Knuever","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Fagerberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Parmentier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waltraud","family":"Anem\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinzenz","family":"Oji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iliana","family":"Tantcheva-Po\u00f3r","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina","family":"F\u00f6lster-Holst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joerg","family":"Wenzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter M.","family":"Krawitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Frank","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina C.","family":"Betz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2023.04.036_bib1000","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A\u00a0global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.jid.2023.04.036_bib1","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1038\/jid.2014.406","article-title":"Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura","volume":"135","author":"Basmanav","year":"2015","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2023.04.036_bib2","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ajhg.2013.12.003","article-title":"Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease","volume":"94","author":"Basmanav","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2023.04.036_bib3","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/500850","article-title":"Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease","volume":"78","author":"Betz","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2023.04.036_bib4","first-page":"147","article-title":"Dermatose pigmentaire \u0155eticul\u00e9e des plis (discussion de l'acanthosis nigricans) [Reticulated pigmentary dermatosis of the folds: relation to acanthosis nigricans]","volume":"81","author":"Degos","year":"1954","journal-title":"Ann Dermatol Syphiligr (Paris)"},{"key":"10.1016\/j.jid.2023.04.036_bib5","first-page":"1147","article-title":"Acanthosis nigricans","volume":"31","author":"Dowling","year":"1938","journal-title":"Proc R Soc Med"},{"key":"10.1016\/j.jid.2023.04.036_bib6","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1038\/scientificamerican0606-58sp","article-title":"Founder mutations","volume":"16","author":"Drayna","year":"2005","journal-title":"Sci Am"},{"key":"10.1016\/j.jid.2023.04.036_bib7","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.ajhg.2013.04.022","article-title":"Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease","volume":"92","author":"Li","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2023.04.036_bib1001","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1038\/ng.3679","article-title":"Reference-based phasing using the Haplotype Reference Consortium panel","volume":"48","author":"Loh","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2023.04.036_bib1002","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1111\/ced.13683","article-title":"Confirmation of the role of a KRT5 mutation and successful management of skin lesions in a patient with Galli-Galli disease","volume":"43","author":"L\u0151rincz","year":"2018","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.jid.2023.04.036_bib8","article-title":"CLCC1 c. 75C>A mutation in Pakistani derived retinitis pigmentosa families likely originated with a single founder mutation 2,000\u20135,000 years ago","volume":"13","author":"Ma","year":"2022","journal-title":"Front Genet"},{"key":"10.1016\/j.jid.2023.04.036_bib9","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1172\/JCI90667","article-title":"Mutations in \u03b3-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa","volume":"127","author":"Ralser","year":"2017","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.jid.2023.04.036_bib10","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1016\/j.jid.2018.10.030","article-title":"Altered Notch signaling in Dowling-Degos disease: additional mutations in POGLUT1 and further insights into disease pathogenesis","volume":"139","author":"Ralser","year":"2019","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2023.04.036_bib11","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1972","article-title":"Hereditary hemorrhagic telangiectasia: first demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago","volume":"10","author":"Sbalchiero","year":"2022","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.jid.2023.04.036_bib12","doi-asserted-by":"crossref","first-page":"250","DOI":"10.3390\/genes11030250","article-title":"Haplotype analysis of GJB2 mutations: founder effect or mutational hot spot?","volume":"11","author":"Shinagawa","year":"2020","journal-title":"Genes"},{"key":"10.1016\/j.jid.2023.04.036_bib13","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1007\/s00439-021-02405-w","article-title":"A\u00a0common founder effect of the splice site variant c.-23\u00a0+ 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia","volume":"141","author":"Solovyev","year":"2022","journal-title":"Hum Genet"},{"key":"10.1016\/j.jid.2023.04.036_bib14","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1111\/bjd.15575","article-title":"Updated review of genetic reticulate pigmentary disorders","volume":"177","author":"Zhang","year":"2017","journal-title":"Br J Dermatol"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X23024193?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X23024193?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T21:53:15Z","timestamp":1762206795000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X23024193"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["S0022202X23024193"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2023.04.036","relation":{},"ISSN":["0022-202X"],"issn-type":[{"type":"print","value":"0022-202X"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2023.04.036","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}]}}