{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:06Z","timestamp":1791894186750,"version":"4.3.4"},"reference-count":16,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"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":700,"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":[[2014,1]]},"DOI":"10.1038\/jid.2013.277","type":"journal-article","created":{"date-parts":[[2013,6,17]],"date-time":"2013-06-17T09:47:26Z","timestamp":1371462446000},"page":"273-276","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":36,"title":["Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients"],"prefix":"10.1016","volume":"134","author":[{"given":"Marieke C.","family":"Bolling","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan D.H.","family":"Jongbloed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludolf G.","family":"Boven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles F.H.","family":"Diercks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances J.D.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.H.","family":"Irwin McLean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel F.","family":"Jonkman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/jid.2013.277_bb0010","first-page":"637","article-title":"Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients","volume":"164","author":"Bolling","year":"2011","journal-title":"Br J Dermatol"},{"key":"10.1038\/jid.2013.277_bb0015","first-page":"612","article-title":"Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure","volume":"9","author":"Choi","year":"2002","journal-title":"Nat Struc Biol"},{"key":"10.1038\/jid.2013.277_bb0020","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1016\/0092-8674(91)90051-Y","article-title":"Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses","volume":"66","author":"Coulombe","year":"1991","journal-title":"Cell"},{"key":"10.1038\/jid.2013.277_bb0025","series-title":"Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study","author":"Gedde-Dahl","year":"1971"},{"key":"10.1038\/jid.2013.277_bb0030","doi-asserted-by":"crossref","first-page":"1064","DOI":"10.1002\/bies.1151","article-title":"Plectin repeats and modules: strategic cysteines and their presumed impact on cytolinker functions","volume":"23","author":"Janda","year":"2001","journal-title":"Bioessays"},{"key":"10.1038\/jid.2013.277_bb0035","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/jid.2012.248","article-title":"Epidermolysis bullosa simplex Ogna revisited","volume":"133","author":"Kiritsi","year":"2013","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2013.277_bb0040","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1046\/j.0022-202x.2001.01591.x","article-title":"A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations","volume":"118","author":"Koss-Harnes","year":"2002","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2013.277_bb0045","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1600-0625.1997.tb00144.x","article-title":"Plectin abnormality in epidermolysis bullosa simplex Ogna: non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies","volume":"6","author":"Koss-Harnes","year":"1997","journal-title":"Exp Dermatol"},{"key":"10.1038\/jid.2013.277_bb0050","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1091\/mbc.e03-09-0697","article-title":"Role of binding of plectin to the integrin beta4 subunit in the assembly of hemidesmosomes","volume":"15","author":"Koster","year":"2004","journal-title":"Mol Biol Cell"},{"key":"10.1038\/jid.2013.277_bb0055","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/356244a0","article-title":"A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering","volume":"356","author":"Lane","year":"1992","journal-title":"Nature"},{"key":"10.1038\/jid.2013.277_bb0060","doi-asserted-by":"crossref","first-page":"18701","DOI":"10.1074\/jbc.M312382200","article-title":"Plectin-RACK1 (receptor for activated C kinase 1) scaffolding: a novel mechanism to regulate protein kinase C activity","volume":"279","author":"Osmanagic-Myers","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1038\/jid.2013.277_bb0065","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1038\/sj.jid.5700571","article-title":"Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations","volume":"127","author":"Rugg","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2013.277_bb0070","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1016\/j.yexcr.2007.03.039","article-title":"Plakins in development and disease","volume":"313","author":"Sonnenberg","year":"2007","journal-title":"Exp Cell Res"},{"key":"10.1038\/jid.2013.277_bb0075","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1242\/jcs.113.3.483","article-title":"Dose-dependent linkage, assembly inhibition and disassembly of vimentin and cytokeratin 5\/14 filaments through plectin\u2019s intermediate filament-binding domain","volume":"113","author":"Steinbock","year":"2000","journal-title":"J Cell Sci"},{"key":"10.1038\/jid.2013.277_bb0080","doi-asserted-by":"crossref","first-page":"e1002396","DOI":"10.1371\/journal.pgen.1002396","article-title":"Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna","volume":"7","author":"Walko","year":"2011","journal-title":"PLoS Genet"},{"key":"10.1038\/jid.2013.277_bb0085","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s00401-012-1026-0","article-title":"The many faces of plectin and plectinopathies: pathology and mechanisms","volume":"125","author":"Winter","year":"2012","journal-title":"Acta Neuropathol"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15364666?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15364666?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T17:00:23Z","timestamp":1743958823000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15364666"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["S0022202X15364666"],"URL":"https:\/\/doi.org\/10.1038\/jid.2013.277","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.732760658.793543192","asserted-by":"object"}]},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2014,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/jid.2013.277","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 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"}]}}