{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:57:53Z","timestamp":1791536273204,"version":"4.3.4"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2010,3,10]],"date-time":"2010-03-10T00:00:00Z","timestamp":1268179200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2010,3,10]],"date-time":"2010-03-10T00:00:00Z","timestamp":1268179200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,6]]},"DOI":"10.1111\/j.1365-2133.2010.09668.x","type":"journal-article","created":{"date-parts":[[2010,3,10]],"date-time":"2010-03-10T13:02:56Z","timestamp":1268226176000},"page":"1388-1394","source":"Crossref","is-referenced-by-count":53,"title":["Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in<i>DSP<\/i>: expanding the phenotype and implications for desmoplakin function in skin and heart"],"prefix":"10.1093","volume":"162","author":[{"given":"M.C.","family":"Bolling","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Veenstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.F.","family":"Jonkman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.F.H.","family":"Diercks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.J.","family":"Curry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.H.","family":"Pas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.L.","family":"Bruckner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2010,3,10]]},"reference":[{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB1|cit1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1083\/jcb.200609109","article-title":"Desmoplakin: an unexpected regulator of microtubule organization in the epidermis","volume":"176","author":"Lechler","year":"2007","journal-title":"J Cell Biol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB2|cit2","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":"10.1111\/j.1365-2133.2010.09668.x-BIB3|cit3","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":"10.1111\/j.1365-2133.2010.09668.x-BIB4|cit4","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1083\/jcb.116.5.1197","article-title":"The desmoplakin carboxyl terminus coaligns with and specifically disrupts intermediate filament networks when expressed in cultured cells","volume":"116","author":"Stappenbeck","year":"1992","journal-title":"J Cell Biol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB5|cit5","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1083\/jcb.123.3.691","article-title":"Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks","volume":"123","author":"Stappenbeck","year":"1993","journal-title":"J Cell Biol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB6|cit6","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1083\/jcb.139.3.773","article-title":"The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes","volume":"139","author":"Kowalczyk","year":"1997","journal-title":"J Cell Biol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB7|cit7","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1083\/jcb.141.5.1229","article-title":"Defining the interactions between intermediate filaments and desmosomes","volume":"141","author":"Smith","year":"1998","journal-title":"J Cell Biol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB8|cit8","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1242\/jcs.114.4.727","article-title":"Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders","volume":"114","author":"Bornslaeger","year":"2001","journal-title":"J Cell Sci"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB9|cit9","doi-asserted-by":"crossref","first-page":"2613","DOI":"10.1073\/pnas.85.8.2613","article-title":"Isolation of cDNAs encoding desmosomal plaque proteins: evidence that bovine desmoplakins I and II are derived from two mRNAs and a single gene","volume":"85","author":"Green","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB10|cit10","doi-asserted-by":"crossref","first-page":"8310","DOI":"10.1016\/S0021-9258(18)83184-2","article-title":"Desmoplakin I and desmoplakin II. Purification and characterization","volume":"264","author":"O\u2019Keefe","year":"1989","journal-title":"J Biol Chem"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB11|cit11","doi-asserted-by":"crossref","first-page":"11406","DOI":"10.1016\/S0021-9258(19)38608-9","article-title":"Structure of the human desmoplakins. Implications for function in the desmosomal plaque","volume":"265","author":"Green","year":"1990","journal-title":"J Biol Chem"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB12|cit12","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1083\/jcb.101.4.1442","article-title":"The complement of desmosomal plaque proteins in different cell types","volume":"101","author":"Cowin","year":"1985","journal-title":"J Cell Biol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB13|cit13","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1242\/jcs.97.2.247","article-title":"Desmoplakin II expression is not restricted to stratified epithelia","volume":"97","author":"Angst","year":"1990","journal-title":"J Cell Sci"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB14|cit14","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.1136\/jmg.2005.032904","article-title":"Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome","volume":"43","author":"Uzumcu","year":"2006","journal-title":"J Med Genet"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB15|cit15","doi-asserted-by":"crossref","first-page":"2009","DOI":"10.1083\/jcb.143.7.2009","article-title":"Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage","volume":"143","author":"Gallicano","year":"1998","journal-title":"J Cell Biol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB16|cit16","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1038\/ncb1201-1076","article-title":"Desmoplakin is essential in epidermal sheet formation","volume":"3","author":"Vasioukhin","year":"2001","journal-title":"Nat Cell Biol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB17|cit17","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"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB18|cit18","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1086\/496901","article-title":"Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa","volume":"77","author":"Jonkman","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB19|cit19","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB20|cit20","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1046\/j.1523-1747.1999.00783.x","article-title":"Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency","volume":"113","author":"Whittock","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB21|cit21","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1172\/JCI117785","article-title":"A 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa","volume":"95","author":"Jonkman","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB22|cit22","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1046\/j.1523-1747.2003.12324.x","article-title":"Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1","volume":"121","author":"McMillan","year":"2003","journal-title":"J Invest Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB23|cit23","doi-asserted-by":"crossref","first-page":"4974","DOI":"10.1242\/jcs.03255","article-title":"New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies","volume":"119","author":"Lapouge","year":"2006","journal-title":"J Cell Sci"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB24|cit24","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/S0968-0004(98)01208-0","article-title":"A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance","volume":"23","author":"Nagy","year":"1998","journal-title":"Trends Biochem Sci"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB25|cit25","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1093\/hmg\/9.18.2761","article-title":"Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma","volume":"9","author":"Norgett","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB26|cit26","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/S0735-1097(03)00628-4","article-title":"A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair","volume":"42","author":"Alcalai","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"10.1111\/j.1365-2133.2010.09668.x-BIB27|cit27","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1242\/dev.128.6.929","article-title":"Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature","volume":"128","author":"Gallicano","year":"2001","journal-title":"Development"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2133.2010.09668.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2133.2010.09668.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/j.1365-2133.2010.09668.x\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T13:48:03Z","timestamp":1676382483000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/162\/6\/1388\/6642913"}},"subtitle":["LAEB due to novel homozygous<i>DSP<\/i>mutation"],"short-title":[],"issued":{"date-parts":[[2010,3,10]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,6]]}},"URL":"https:\/\/doi.org\/10.1111\/j.1365-2133.2010.09668.x","archive":["Portico"],"relation":{},"ISSN":["0007-0963"],"issn-type":[{"value":"0007-0963","type":"print"}],"subject":[],"published":{"date-parts":[[2010,3,10]]}}}