{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T16:40:07Z","timestamp":1766940007938},"reference-count":11,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2006,4,1]],"date-time":"2006-04-01T00:00:00Z","timestamp":1143849600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,2]],"date-time":"2015-12-02T00:00:00Z","timestamp":1449014400000},"content-version":"vor","delay-in-days":3532,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2006,4]]},"DOI":"10.1038\/sj.jid.5700154","type":"journal-article","created":{"date-parts":[[2006,1,26]],"date-time":"2006-01-26T15:52:03Z","timestamp":1138290723000},"page":"773-776","source":"Crossref","is-referenced-by-count":10,"title":["Three Severe Cases of EBS Dowling-Meara Caused by Missense and Frameshift Mutations in the Keratin 14 Gene"],"prefix":"10.1016","volume":"126","author":[{"given":"Matthias","family":"Titeux","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliette","family":"Mazereeuw-Hautier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sma\u00efl","family":"Hadj-Rabia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Prost","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laure","family":"Tonasso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Fraitag","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"de Prost","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Hovnanian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Bodemer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/sj.jid.5700154_bb0010","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1083\/jcb.200104063","article-title":"The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro","volume":"155","author":"Bousquet","year":"2001","journal-title":"J Cell Biol"},{"key":"10.1038\/sj.jid.5700154_bb0015","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1111\/1523-1747.ep12342985","article-title":"Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex","volume":"106","author":"Chan","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700154_bb0020","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1046\/j.0022-202x.2001.01508.x","article-title":"Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes","volume":"117","author":"Cummins","year":"2001","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700154_bb0025","doi-asserted-by":"crossref","first-page":"4341","DOI":"10.1242\/jcs.00120","article-title":"Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock","volume":"115","author":"D'Alessandro","year":"2002","journal-title":"J Cell Sci"},{"key":"10.1038\/sj.jid.5700154_bb0030","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1111\/j.1346-8138.2002.tb00236.x","article-title":"A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex","volume":"29","author":"Gu","year":"2002","journal-title":"J Dermatol"},{"key":"10.1038\/sj.jid.5700154_bb0035","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1111\/1523-1747.ep12491885","article-title":"Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14","volume":"97","author":"Ishida-Yamamoto","year":"1991","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700154_bb0040","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1111\/j.0022-202X.2005.23818.x","article-title":"Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype\/genotype correlations, and implications for genetic counseling and prenatal diagnosis","volume":"125","author":"Pfendner","year":"2005","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700154_bb0045","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/S0092-8674(75)80001-8","article-title":"Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells","volume":"6","author":"Rheinwald","year":"1975","journal-title":"Cell"},{"key":"10.1038\/sj.jid.5700154_bb0050","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1046\/j.1523-1747.1998.00388.x","article-title":"Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)","volume":"111","author":"Shemanko","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700154_bb0055","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1046\/j.1523-1747.1999.00495.x","article-title":"Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype","volume":"112","author":"Sorensen","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700154_bb0060","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/1523-1747.ep12286486","article-title":"Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients","volume":"108","author":"Stephens","year":"1997","journal-title":"J Invest Dermatol"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15328499?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15328499?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T15:55:49Z","timestamp":1555430149000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15328499"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["S0022202X15328499"],"URL":"https:\/\/doi.org\/10.1038\/sj.jid.5700154","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2006,4]]}}}