{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T19:44:53Z","timestamp":1788291893575,"version":"build-2803163510"},"reference-count":85,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["jdsjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2015,3]]},"DOI":"10.1016\/j.jdermsci.2014.11.005","type":"journal-article","created":{"date-parts":[[2014,11,29]],"date-time":"2014-11-29T20:21:29Z","timestamp":1417292489000},"page":"139-145","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":36,"title":["Plectin-related skin diseases"],"prefix":"10.1016","volume":"77","author":[{"given":"Ken","family":"Natsuga","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdermsci.2014.11.005_bib0005","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s00418-013-1102-0","article-title":"Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve","volume":"140","author":"Castanon","year":"2013","journal-title":"Histochem Cell Biol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0010","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":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0015","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1101\/gr.1225204","article-title":"Multiple variable first exons, a mechanism for cell- and tissue-specific gene regulation","volume":"14","author":"Zhang","year":"2004","journal-title":"Genome Res"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0020","doi-asserted-by":"crossref","first-page":"3181","DOI":"10.1093\/hmg\/ddg345","article-title":"Plectin 5\u2032-transcript diversity, short alternative sequences determine stability of gene products, initiation of translation and subcellular localization of isoforms","volume":"12","author":"Rezniczek","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0025","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1046\/j.1523-1747.2003.12027.x","article-title":"Plectin-isoform-specific rescue of hemidesmosomal defects in plectin (\u2212\/\u2212) keratinocytes","volume":"120","author":"Andra","year":"2003","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0030","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1083\/jcb.200710151","article-title":"Plectin isoform 1b mediates mitochondrion-intermediate filament network linkage and controls organelle shape","volume":"181","author":"Winter","year":"2008","journal-title":"J Cell Biol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0035","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1091\/mbc.E12-06-0488","article-title":"Intermediate filament-associated cytolinker plectin 1c destabilizes microtubules in keratinocytes","volume":"24","author":"Valencia","year":"2013","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0040","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1083\/jcb.200604179","article-title":"Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan","volume":"176","author":"Rezniczek","year":"2007","journal-title":"J Cell Biol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0045","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.det.2009.10.004","article-title":"Plectin gene defects lead to various forms of epidermolysis bullosa simplex","volume":"28","author":"Rezniczek","year":"2010","journal-title":"Dermatol Clin"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0050","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.ajhg.2010.10.017","article-title":"Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy","volume":"87","author":"Gundesli","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0055","doi-asserted-by":"crossref","unstructured":"Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, et al. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. Br J Dermatol, in press.","DOI":"10.1111\/bjd.13190"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0060","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1006\/geno.1997.4724","article-title":"Plectin transcript diversity, identification and tissue distribution of variants with distinct first coding exons and rodless isoforms","volume":"42","author":"Elliott","year":"1997","journal-title":"Genomics"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0065","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.jaad.2014.01.903","article-title":"Inherited epidermolysis bullosa Updated recommendations on diagnosis and classification","volume":"70","author":"Fine","year":"2014","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0070","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1097\/00005072-199908000-00006","article-title":"Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency","volume":"58","author":"Banwell","year":"1999","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0075","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1212\/WNL.0b013e31820882bd","article-title":"Myasthenic syndrome caused by plectinopathy","volume":"76","author":"Selcen","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0080","doi-asserted-by":"crossref","first-page":"2196","DOI":"10.1172\/JCI119028","article-title":"A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy","volume":"98","author":"Chavanas","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0085","doi-asserted-by":"crossref","first-page":"2289","DOI":"10.1172\/JCI118671","article-title":"Defective expression of plectin\/HD1 in epidermolysis bullosa simplex with muscular dystrophy","volume":"97","author":"Gache","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0090","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1101\/gad.10.14.1724","article-title":"Loss of plectin causes epidermolysis bullosa with muscular dystrophy, cDNA cloning and genomic organization","volume":"10","author":"McLean","year":"1996","journal-title":"Genes Dev"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0095","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1093\/hmg\/5.10.1539","article-title":"Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy","volume":"5","author":"Pulkkinen","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0100","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1038\/ng0896-450","article-title":"Plectin deficiency results in muscular dystrophy with epidermolysis bullosa","volume":"13","author":"Smith","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0105","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":"10.1016\/j.jdermsci.2014.11.005_bib0110","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/humu.21189","article-title":"Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex","volume":"31","author":"Natsuga","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0115","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.1038\/sj.jid.5700707","article-title":"Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1","volume":"127","author":"Sawamura","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0120","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/S0002-9440(10)64003-5","article-title":"A compound heterozygous one amino-acid insertion\/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency","volume":"158","author":"Bauer","year":"2001","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0125","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1111\/j.0906-6705.2005.00324.x","article-title":"Progress in epidermolysis bullosa, the phenotypic spectrum of plectin mutations","volume":"14","author":"Pfendner","year":"2005","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0130","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1242\/jcs.00241","article-title":"Analysis of the interactions between BP180 BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly","volume":"116","author":"Koster","year":"2003","journal-title":"J Cell Sci"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0135","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":"10.1016\/j.jdermsci.2014.11.005_bib0140","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1083\/jcb.200711058","article-title":"Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms","volume":"181","author":"Konieczny","year":"2008","journal-title":"J Cell Biol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0145","doi-asserted-by":"crossref","first-page":"3143","DOI":"10.1101\/gad.11.23.3143","article-title":"Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture","volume":"11","author":"Andra","year":"1997","journal-title":"Genes Dev"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0150","doi-asserted-by":"crossref","first-page":"2435","DOI":"10.1242\/jcs.004481","article-title":"Conditional targeting of plectin in prenatal and adult mouse stratified epithelia causes keratinocyte fragility and lesional epidermal barrier defects","volume":"120","author":"Ackerl","year":"2007","journal-title":"J Cell Sci"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0155","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/sj.jid.5701152","article-title":"5\u2032 trans-splicing repair of the PLEC1 gene","volume":"128","author":"Wally","year":"2008","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0160","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1172\/JCI71919","article-title":"Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle","volume":"124","author":"Winter","year":"2014","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0165","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/ng0695-229","article-title":"Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia","volume":"10","author":"Vidal","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0170","doi-asserted-by":"crossref","first-page":"2826","DOI":"10.1172\/JCI119474","article-title":"A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia","volume":"99","author":"Ruzzi","year":"1997","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0175","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1111\/j.1523-1747.2003.12639.x","article-title":"Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin","volume":"121","author":"Charlesworth","year":"2003","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0180","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/S1525-1578(10)60005-0","article-title":"Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)","volume":"7","author":"Nakamura","year":"2005","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0185","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.0022-202X.2004.23564.x","article-title":"Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia","volume":"124","author":"Pfendner","year":"2005","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0190","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1002\/pd.1603","article-title":"Prenatal diagnosis of epidermolysis bullosa","volume":"26","author":"Shimizu","year":"2006","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0195","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.det.2010.02.001","article-title":"Prenatal diagnosis of epidermolysis bullosa","volume":"28","author":"Fassihi","year":"2010","journal-title":"Dermatol Clin"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0200","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/j.1365-4632.2010.04771.x","article-title":"DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia","volume":"50","author":"Nakamura","year":"2011","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0205","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1111\/bjd.12202","article-title":"Epidermolysis bullosa simplex with PLEC mutations, new phenotypes and new mutations","volume":"168","author":"Charlesworth","year":"2013","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0210","doi-asserted-by":"crossref","first-page":"E1687","DOI":"10.1002\/humu.21330","article-title":"Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex","volume":"31","author":"Natsuga","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0215","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<127::AID-AJMG6>3.0.CO;2-L","article-title":"Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita, histopathological delineation of an autosomal recessive disease","volume":"78","author":"Maman","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0220","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":"10.1016\/j.jdermsci.2014.11.005_bib0225","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/jid.2013.277","article-title":"Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients","volume":"134","author":"Bolling","year":"2014","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0230","doi-asserted-by":"crossref","first-page":"1869","DOI":"10.1038\/jid.2011.143","article-title":"Consequences of two different amino-acid substitutions at the same codon in KRT14 indicate definitive roles of structural distortion in epidermolysis bullosa simplex pathogenesis","volume":"131","author":"Natsuga","year":"2011","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0235","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1046\/j.1523-1747.1999.00695.x","article-title":"Plectin serves as an autoantigen in paraneoplastic pemphigus","volume":"113","author":"Aho","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0240","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1046\/j.1523-1747.1999.00498.x","article-title":"Human autoantibodies against HD1\/plectin in paraneoplastic pemphigus","volume":"112","author":"Proby","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0245","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1111\/j.1365-2133.2003.05659.x","article-title":"Paraneoplastic pemphigus in association with Castleman's disease","volume":"149","author":"Nikolskaia","year":"2003","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0250","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1046\/j.1365-2133.2001.03963.x","article-title":"Plectin, an unusual target antigen in bullous pemphigoid","volume":"144","author":"Laffitte","year":"2001","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0255","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1111\/j.1365-2230.2005.01854.x","article-title":"Inflammatory epidermolysis bullosa acquisita with coexistent IgA antibodies to plectin","volume":"30","author":"Buijsrogge","year":"2005","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0260","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1111\/j.1365-2133.2009.09206.x","article-title":"Antiplectin autoantibodies in subepidermal blistering diseases","volume":"161","author":"Buijsrogge","year":"2009","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0265","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1046\/j.1365-2133.2000.03434.x","article-title":"A vesicular bullous pemphigoid with an autoantibody against plectin","volume":"142","author":"Ohnishi","year":"2000","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0270","doi-asserted-by":"crossref","first-page":"13340","DOI":"10.1074\/jbc.M011386200","article-title":"Epiplakin, a novel member of the plakin family originally identified as a 450-kDa human epidermal autoantigen. Structure and tissue localization","volume":"276","author":"Fujiwara","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0275","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.yexcr.2014.04.002","article-title":"Isolation of a hemidesmosome-rich fraction from a human squamous cell carcinoma cell line","volume":"324","author":"Hirako","year":"2014","journal-title":"Exp Cell Res"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0280","doi-asserted-by":"crossref","unstructured":"Miyamoto S, Chikazu D, Yasuda T, Enomoto A, Oh IT, Hirako Y, et al. A case of oral mucous membrane pemphigoid with IgG antibodies to integrin alpha6beta4. Br J Dermatol, in press.","DOI":"10.1111\/bjd.13113"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0285","unstructured":"Solano-Lopez G, Concha-Garzon MJ, Sanchez-Perez J, Hirako Y, Li X, Ishii N, et al. Pure ocular mucous membrane pemphigoid reactive with both integrin beta-4 and BP180 C-terminal domain. Br J Dermatol, in press."},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0290","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1046\/j.1523-1747.1998.00107.x","article-title":"Epitope spreading, lessons from autoimmune skin diseases","volume":"110","author":"Chan","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0295","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1172\/JCI116368","volume":"91","author":"Ishiko","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0300","doi-asserted-by":"crossref","first-page":"2480","DOI":"10.1172\/JCI116856","article-title":"A passive transfer model of the organ-specific autoimmune disease, bullous pemphigoid, using antibodies generated against the hemidesmosomal antigen, BP180","volume":"92","author":"Liu","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0305","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1038\/nm1496","article-title":"Humanization of autoantigen","volume":"13","author":"Nishie","year":"2007","journal-title":"Nat Med"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0310","doi-asserted-by":"crossref","first-page":"5792","DOI":"10.4049\/jimmunol.1003402","article-title":"Antibodies to pathogenic epitopes on type XVII collagen cause skin fragility in a complement-dependent and -independent manner","volume":"188","author":"Natsuga","year":"2012","journal-title":"J Immunol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0315","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jaut.2004.09.007","article-title":"Experimental bullous pemphigoid generated in mice with an antigenic epitope of the human hemidesmosomal protein BP230","volume":"24","author":"Kiss","year":"2005","journal-title":"J Autoimmun"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0320","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.humimm.2014.01.005","article-title":"IgG antibodies against immunodominant C-terminal epitopes of BP230 do not induce skin blistering in mice","volume":"75","author":"Feldrihan","year":"2014","journal-title":"Hum Immunol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0325","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/0092-8674(95)90333-X","article-title":"Gene targeting of BPAG1, abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration","volume":"81","author":"Guo","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0330","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1111\/1523-1747.ep12469994","article-title":"Penetration of autoantibodies into living epithelial cells","volume":"100","author":"Golan","year":"1993","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0335","doi-asserted-by":"crossref","first-page":"3424","DOI":"10.1158\/0008-5472.CAN-12-0423","article-title":"FRMD4A upregulation in human squamous cell carcinoma promotes tumor growth and metastasis and is associated with poor prognosis","volume":"72","author":"Goldie","year":"2012","journal-title":"Cancer Res"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0340","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1016\/S0140-6736(13)61897-8","article-title":"Allogeneic blood and bone marrow cells for the treatment of severe epidermolysis bullosa, repair of the extracellular matrix","volume":"382","author":"Tolar","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0345","first-page":"792","article-title":"New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy","volume":"38","author":"Chen","year":"2013","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0350","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":"10.1016\/j.jdermsci.2014.11.005_bib0355","unstructured":"Yin J, Ren Y, Lin Z, Wang H, Zhou Y, Yang Y, Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia. Int J Dermatol, in press."},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0360","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1111\/j.1365-2133.1997.tb01549.x","article-title":"Recessive epidermolysis bullosa simplex associated with plectin mutations, infantile respiratory complications in two unrelated cases","volume":"137","author":"Mellerio","year":"1997","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0365","first-page":"195","article-title":"Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations","volume":"78","author":"Dang","year":"1998","journal-title":"Lab Invest"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0370","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1046\/j.1523-1747.1999.00461.x","article-title":"Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests","volume":"112","author":"Takizawa","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0375","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1046\/j.1523-1747.2000.00880.x","article-title":"Epidermolysis bullosa, novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy","volume":"114","author":"Rouan","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0380","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1046\/j.1523-1747.2000.00856.x","article-title":"Mutation reports, epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene","volume":"114","author":"Kunz","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0385","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1093\/jnen\/61.6.520","article-title":"Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy","volume":"61","author":"Schroder","year":"2002","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0390","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1007\/s00431-004-1410-4","article-title":"Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation","volume":"163","author":"Schara","year":"2004","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0395","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1080\/00015550310007094","article-title":"Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation","volume":"84","author":"Koss-Harnes","year":"2004","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0400","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1002\/mus.20655","article-title":"Plectin defects in epidermolysis bullosa simplex with muscular dystrophy","volume":"35","author":"McMillan","year":"2007","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0405","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/jid.2009.390","article-title":"PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy","volume":"130","author":"Bolling","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0410","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/j.nmd.2010.06.003","article-title":"Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin","volume":"20","author":"Forrest","year":"2010","journal-title":"Neuromuscular Disord"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0415","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/mus.22076","article-title":"Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency","volume":"44","author":"Yiu","year":"2011","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0420","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1111\/j.1399-0004.2010.01602.x","article-title":"Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE","volume":"80","author":"Maselli","year":"2011","journal-title":"Clin Genet"},{"key":"10.1016\/j.jdermsci.2014.11.005_bib0425","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"}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181114002588?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181114002588?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,27]],"date-time":"2018-09-27T05:54:34Z","timestamp":1538027674000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181114002588"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3]]},"references-count":85,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["S0923181114002588"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2014.11.005","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Plectin-related skin diseases","name":"articletitle","label":"Article Title"},{"value":"Journal of Dermatological Science","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdermsci.2014.11.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}