{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T22:49:25Z","timestamp":1778885365887,"version":"3.51.4"},"reference-count":26,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2010,2,1]],"date-time":"2010-02-01T00:00:00Z","timestamp":1264982400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,2,1]],"date-time":"2010-02-01T00:00:00Z","timestamp":1264982400000},"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":2130,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100008081","name":"Dystrophic Epidermolysis Bullosa Research Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008081","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":[[2010,2]]},"DOI":"10.1038\/jid.2009.215","type":"journal-article","created":{"date-parts":[[2009,7,18]],"date-time":"2009-07-18T04:42:08Z","timestamp":1247892128000},"page":"425-429","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":48,"title":["Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma"],"prefix":"10.1016","volume":"130","author":[{"given":"Neil J.","family":"Wilson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew G.","family":"Messenger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sancy A.","family":"Leachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edel A.","family":"O'Toole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E Birgitte","family":"Lane","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.2009.215_bb0010","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/ng0795-363","article-title":"Mutation of a type II keratin gene (K6a) in pachyonychia congenita","volume":"10","author":"Bowden","year":"1995","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2009.215_bb0015","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1006\/exer.1999.0769","article-title":"Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene","volume":"70","author":"Corden","year":"2000","journal-title":"Exp Eye Res"},{"key":"10.1038\/jid.2009.215_bb0020","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1006\/jmbi.2000.3719","article-title":"The intermediate filament protein consensus motif of helix 2B: its atomic structure and contribution to assembly","volume":"298","author":"Herrmann","year":"2000","journal-title":"J Mol Biol"},{"key":"10.1038\/jid.2009.215_bb0025","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.clindermatol.2004.09.005","article-title":"Palmoplantar keratodermas","volume":"23","author":"Itin","year":"2005","journal-title":"Clin Dermatol"},{"key":"10.1038\/jid.2009.215_bb0030","series-title":"Rook's textbook of dermatology","first-page":"34.54","article-title":"Disorders of keratinization","author":"Judge","year":"2004"},{"key":"10.1038\/jid.2009.215_bb0035","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1087-0024.2005.10202.x","article-title":"Clinical and pathological features of pachyonychia congenita","volume":"10","author":"Leachman","year":"2005","journal-title":"J Investig Dermatol Symp Proc"},{"key":"10.1038\/jid.2009.215_bb0040","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.jdermsci.2007.07.003","article-title":"A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita","volume":"48","author":"Liao","year":"2007","journal-title":"J Dermatol Sci"},{"key":"10.1038\/jid.2009.215_bb0045","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1046\/j.1469-7580.2003.00141.x","article-title":"Genetic disorders of palm skin and nail","volume":"202","author":"McLean","year":"2003","journal-title":"J Anat"},{"key":"10.1038\/jid.2009.215_bb0050","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/ng0395-273","article-title":"Keratin 16 and keratin 17 mutations cause pachyonychia congenita","volume":"9","author":"McLean","year":"1995","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2009.215_bb0055","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1087-0024.2005.10205.x","article-title":"Insights into genotype\u2013phenotype correlation in pachyonychia congenita from the Human Intermediate Filament Mutation Database","volume":"10","author":"McLean","year":"2005","journal-title":"J Investig Dermatol Symp Proc"},{"key":"10.1038\/jid.2009.215_bb0060","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1111\/j.0022-202X.2004.23530.x","article-title":"Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13","volume":"124","author":"Rogers","year":"2005","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2009.215_bb0065","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1038\/ng1295-450","article-title":"A mutation in the mucosal keratin K4 is associated with oral white sponge nevus","volume":"11","author":"Rugg","year":"1995","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2009.215_bb0070","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1083\/jcb.200603161","article-title":"New consensus nomenclature for mammalian keratins","volume":"174","author":"Schweizer","year":"2006","journal-title":"J Cell Biol"},{"key":"10.1038\/jid.2009.215_bb0075","doi-asserted-by":"crossref","first-page":"1875","DOI":"10.1093\/hmg\/4.10.1875","article-title":"Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in 2 families","volume":"4","author":"Shamsher","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1038\/jid.2009.215_bb0080","doi-asserted-by":"crossref","first-page":"2060","DOI":"10.1038\/sj.jid.5700814","article-title":"A novel mutation in K6b in pachyonychia congenita type 2","volume":"127","author":"Sharma","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2009.215_bb0085","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1034\/j.1600-0625.2000.009003170.x","article-title":"Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma","volume":"9","author":"Smith","year":"2000","journal-title":"Exp Dermatol"},{"key":"10.1038\/jid.2009.215_bb0090","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1093\/hmg\/7.7.1143","article-title":"A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2","volume":"7","author":"Smith","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1038\/jid.2009.215_bb0095","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1111\/j.1087-0024.2005.10204.x","article-title":"The genetic basis of pachyonychia congenita","volume":"10","author":"Smith","year":"2005","journal-title":"J Investig Dermatol Symp Proc"},{"key":"10.1038\/jid.2009.215_bb0100","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/j.1600-0625.1999.tb00356.x","article-title":"A mutation detection strategy for the human K6A gene and novel mutations in two cases of pachyonychia congenita type 1","volume":"8","author":"Smith","year":"1999","journal-title":"Exp Dermatol"},{"key":"10.1038\/jid.2009.215_bb0105","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1006\/bbrc.1993.2555","article-title":"Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses","volume":"197","author":"Steinert","year":"1993","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1038\/jid.2009.215_bb0110","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1001\/archderm.1996.03890300056010","article-title":"Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas","volume":"132","author":"Stevens","year":"1996","journal-title":"Arch Dermatol"},{"key":"10.1038\/jid.2009.215_bb0115","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1006\/jmbi.2001.4442","article-title":"Divide-and-conquer crystallographic approach towards an atomic structure of intermediate filaments","volume":"306","author":"Strelkov","year":"2001","journal-title":"J Mol Biol"},{"key":"10.1038\/jid.2009.215_bb0120","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1046\/j.1365-2133.1998.02499.x","article-title":"Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress","volume":"139","author":"Swensson","year":"1998","journal-title":"Br J Dermatol"},{"key":"10.1038\/jid.2009.215_bb0125","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.2009.215_bb0130","doi-asserted-by":"crossref","first-page":"18581","DOI":"10.1074\/jbc.270.31.18581","article-title":"Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms","volume":"270","author":"Takahashi","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1038\/jid.2009.215_bb0135","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1046\/j.0022-202x.2001.01565.x","article-title":"Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita","volume":"117","author":"Terrinoni","year":"2001","journal-title":"J Invest Dermatol"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15346601?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15346601?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T17:18:45Z","timestamp":1743959925000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15346601"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["S0022202X15346601"],"URL":"https:\/\/doi.org\/10.1038\/jid.2009.215","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2010,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/jid.2009.215","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 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"}]}}