{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:28:31Z","timestamp":1773235711905,"version":"3.50.1"},"reference-count":12,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2012,7,1]],"date-time":"2012-07-01T00:00:00Z","timestamp":1341100800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,7,1]],"date-time":"2012-07-01T00:00:00Z","timestamp":1341100800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2015,12,2]],"date-time":"2015-12-02T00:00:00Z","timestamp":1449014400000},"content-version":"vor","delay-in-days":1249,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2012,7]]},"DOI":"10.1038\/jid.2011.484","type":"journal-article","created":{"date-parts":[[2012,2,16]],"date-time":"2012-02-16T09:29:10Z","timestamp":1329384550000},"page":"1921-1924","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita"],"prefix":"10.1016","volume":"132","author":[{"given":"Neil J.","family":"Wilson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica L.","family":"C\u00e1rdenas P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anders","family":"Vahlquist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary E.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"David Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.H.","family":"Irwin McLean","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frances J.D.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/jid.2011.484_bb0010","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1046\/j.1365-2133.1998.02413.x","article-title":"Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2","volume":"139","author":"Covello","year":"1998","journal-title":"Br J Dermatol"},{"key":"10.1038\/jid.2011.484_bb0015","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/1523-1747.ep12336051","article-title":"Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote","volume":"109","author":"Hu","year":"1997","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2011.484_bb0020","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1101\/gad.979502","article-title":"Keratin 17 null mice exhibit age- and strain-dependent alopecia","volume":"16","author":"McGowan","year":"2002","journal-title":"Genes Dev"},{"key":"10.1038\/jid.2011.484_bb0025","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/jid.2011.59","article-title":"The phenotypic and molecular genetic features of pachyonychia congenita","volume":"131","author":"McLean","year":"2011","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2011.484_bb0030","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1007\/s00418-008-0435-6","article-title":"The human keratins: biology and pathology","volume":"129","author":"Moll","year":"2008","journal-title":"Histochem Cell Biol"},{"key":"10.1038\/jid.2011.484_bb0035","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.jdermsci.2010.11.002","article-title":"Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex","volume":"61","author":"Oldak","year":"2011","journal-title":"J Dermatol Sci"},{"key":"10.1038\/jid.2011.484_bb0040","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1111\/1523-1747.ep12335315","article-title":"Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex","volume":"108","author":"Smith","year":"1997","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2011.484_bb0045","first-page":"577","article-title":"Epidermolysis bullosa simplex - a keratin 5 mutation is a fully dominant allele in epidermal cytoskeletal function","volume":"56","author":"Stephens","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1038\/jid.2011.484_bb0050","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/humu.20652","article-title":"The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases","volume":"29","author":"Szeverenyi","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1038\/jid.2011.484_bb0055","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1111\/j.1468-3083.2009.03180.x","article-title":"Novel missense mutation of keratin in Chinese family with steatocystoma multiplex","volume":"23","author":"Wang","year":"2009","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.1038\/jid.2011.484_bb0060","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/jid.2011.20","article-title":"A large mutational study in pachyonychia congenita","volume":"131","author":"Wilson","year":"2011","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2011.484_bb0065","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1111\/j.1365-2230.2008.02858.x","article-title":"Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14","volume":"33","author":"Yiasemides","year":"2008","journal-title":"Clin Exp Dermatol"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15358152?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15358152?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T03:53:00Z","timestamp":1743911580000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15358152"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["S0022202X15358152"],"URL":"https:\/\/doi.org\/10.1038\/jid.2011.484","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2012,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/jid.2011.484","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 The Society for Investigative Dermatology, Inc. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}