{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T08:09:10Z","timestamp":1788854950143,"version":"build-2803163510"},"reference-count":16,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatologic Clinics"],"published-print":{"date-parts":[[2010,1]]},"DOI":"10.1016\/j.det.2009.10.014","type":"journal-article","created":{"date-parts":[[2009,11,28]],"date-time":"2009-11-28T04:35:22Z","timestamp":1259382922000},"page":"125-129","source":"Crossref","is-referenced-by-count":62,"title":["Ectodermal Dysplasia-Skin Fragility Syndrome"],"prefix":"10.1016","volume":"28","author":[{"given":"John A.","family":"McGrath","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jemima E.","family":"Mellerio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.det.2009.10.014_bib1","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng1097-240","article-title":"Mutations in the plakophilin 1 gene result in ectodermal dysplasia\/skin fragility syndrome","volume":"17","author":"McGrath","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.det.2009.10.014_bib2","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/j.jaad.2008.02.004","article-title":"The classification of inherited epidermolysis bullosa (EB): report of the third International Consensus Meeting on diagnosis and classification of EB","volume":"58","author":"Fine","year":"2008","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.det.2009.10.014_bib3","doi-asserted-by":"crossref","first-page":"2499","DOI":"10.1038\/sj.jid.5701015","article-title":"Desmosomes: new perspectives on a classic","volume":"127","author":"Green","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.det.2009.10.014_bib4","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S0074-7696(07)64003-0","article-title":"Structure and function of desmosomes","volume":"264","author":"Hoethofer","year":"2007","journal-title":"Int Rev Cytol"},{"key":"10.1016\/j.det.2009.10.014_bib5","first-page":"139","article-title":"Plakophilin 1: an important stabilizer of desmosomes","volume":"108","author":"South","year":"1997","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.det.2009.10.014_bib6","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1007\/s004410050956","article-title":"Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components","volume":"290","author":"Schmidt","year":"1997","journal-title":"Cell Tissue Res"},{"key":"10.1016\/j.det.2009.10.014_bib7","doi-asserted-by":"crossref","first-page":"16962","DOI":"10.1074\/jbc.M600570200","article-title":"Carboxyl terminus of plakophilin 1 recruits to its plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly","volume":"281","author":"Sobolik-Delmaire","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.det.2009.10.014_bib8","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1046\/j.1365-2133.1999.02667.x","article-title":"Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1","volume":"140","author":"McGrath","year":"1999","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.det.2009.10.014_bib9","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1046\/j.1523-1747.2000.00082.x","article-title":"Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia\/skin fragility syndrome","volume":"15","author":"Whittock","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.det.2009.10.014_bib10","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1034\/j.1600-0625.2002.110202.x","article-title":"Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1","volume":"11","author":"Hamada","year":"2002","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.det.2009.10.014_bib11","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1111\/j.0022-202X.2004.22335.x","article-title":"Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia\/skin fragility syndrome in two consanguineous families","volume":"122","author":"Sprecher","year":"2004","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.det.2009.10.014_bib12","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1111\/j.0022-202X.2003.22302.x","article-title":"Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin 1 gene","volume":"122","author":"Steijlen","year":"2004","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.det.2009.10.014_bib13","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1080\/00015550510037684","article-title":"Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia\u2013skin fragility syndrome","volume":"85","author":"Zheng","year":"2005","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.det.2009.10.014_bib14","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.jaad.2005.10.002","article-title":"Ectodermal dysplasia\u2013skin fragility syndrome resulting from a new homozygous mutation, 888 delC, in the desmosomal protein plakophilin 1","volume":"55","author":"Ersoy-Evans","year":"2006","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.det.2009.10.014_bib15","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1111\/j.1365-2133.2008.08900.x","article-title":"Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families","volume":"160","author":"Tanaka","year":"2009","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.det.2009.10.014_bib16","doi-asserted-by":"crossref","first-page":"2713","DOI":"10.1038\/sj.jid.5700727","article-title":"Genetic diseases of junctions","volume":"127","author":"Lai-Cheong","year":"2007","journal-title":"J Invest Dermatol"}],"container-title":["Dermatologic Clinics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0733863509000886?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0733863509000886?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T18:57:17Z","timestamp":1544813837000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0733863509000886"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["S0733863509000886"],"URL":"https:\/\/doi.org\/10.1016\/j.det.2009.10.014","relation":{},"ISSN":["0733-8635"],"issn-type":[{"value":"0733-8635","type":"print"}],"subject":[],"published":{"date-parts":[[2010,1]]}}}