{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:26:58Z","timestamp":1791026818493,"version":"4.1.0"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":792,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br J Dermatol"],"published-print":{"date-parts":[[2013,7]]},"DOI":"10.1111\/bjd.12317","type":"journal-article","created":{"date-parts":[[2013,3,18]],"date-time":"2013-03-18T04:59:20Z","timestamp":1363582760000},"page":"115-124","source":"Crossref","is-referenced-by-count":58,"title":["Phenotypic spectrum of epidermolysis bullosa associated with \u03b16\u03b24 integrin mutations"],"prefix":"10.1093","volume":"169","author":[{"given":"H.","family":"Schumann","sequence":"first","affiliation":[{"name":"Department of Dermatology; University Medical Center Freiburg; Hauptstr. 7 79104 Freiburg Germany"},{"name":"Catholic University of Applied Sciences; Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Kiritsi","sequence":"additional","affiliation":[{"name":"Department of Dermatology; University Medical Center Freiburg; Hauptstr. 7 79104 Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Pigors","sequence":"additional","affiliation":[{"name":"Department of Dermatology; University Medical Center Freiburg; Hauptstr. 7 79104 Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Hausser","sequence":"additional","affiliation":[{"name":"Department of Dermatology; University of Heidelberg; Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kohlhase","sequence":"additional","affiliation":[{"name":"Center for Human Genetics Freiburg; Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Peters","sequence":"additional","affiliation":[{"name":"Klinikum Dritter Orden; Paediatric Clinic; Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Ott","sequence":"additional","affiliation":[{"name":"Department of Paediatric Dermatology and Allergology; Catholic Children's Hospital Wilhelmstift; Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Hyla-Klekot","sequence":"additional","affiliation":[{"name":"Pediatrics and Oncology Center; Chorz\u00f3w Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Gacka","sequence":"additional","affiliation":[{"name":"Pediatrics and Oncology Center; Chorz\u00f3w Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.L.","family":"Sieron","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology; Medical University of Silesia; Katowice Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Valari","sequence":"additional","affiliation":[{"name":"Department of Dermatology; Agia Sofia Children's Hospital; Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Bruckner-Tuderman","sequence":"additional","affiliation":[{"name":"Department of Dermatology; University Medical Center Freiburg; Hauptstr. 7 79104 Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Has","sequence":"additional","affiliation":[{"name":"Department of Dermatology; University Medical Center Freiburg; Hauptstr. 7 79104 Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,7,8]]},"reference":[{"key":"10.1111\/bjd.12317-BIB0001|bjd12317-cit-0001","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":"10.1111\/bjd.12317-BIB0002|bjd12317-cit-0002","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":"10.1111\/bjd.12317-BIB0003|bjd12317-cit-0003","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.det.2009.10.005","article-title":"Epidermolysis bullosa with pyloric atresia","volume":"28","author":"Chung","year":"2010","journal-title":"Dermatol Clin"},{"key":"10.1111\/bjd.12317-BIB0004|bjd12317-cit-0004","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":"10.1111\/bjd.12317-BIB0005|bjd12317-cit-0005","first-page":"935","article-title":"Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia","volume":"152","author":"Pulkkinen","year":"1998","journal-title":"Am J Pathol"},{"key":"10.1111\/bjd.12317-BIB0006|bjd12317-cit-0006","first-page":"157","article-title":"Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)","volume":"152","author":"Pulkkinen","year":"1998","journal-title":"Am J Pathol"},{"key":"10.1111\/bjd.12317-BIB0007|bjd12317-cit-0007","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1086\/302116","article-title":"Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense","volume":"63","author":"Pulkkinen","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1111\/bjd.12317-BIB0008|bjd12317-cit-0008","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1046\/j.1365-2133.1998.02515.x","article-title":"Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease","volume":"139","author":"Mellerio","year":"1998","journal-title":"Br J Dermatol"},{"key":"10.1111\/bjd.12317-BIB0009|bjd12317-cit-0009","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1046\/j.1523-1747.2002.19609.x","article-title":"Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex","volume":"119","author":"Jonkman","year":"2002","journal-title":"J Invest Dermatol"},{"key":"10.1111\/bjd.12317-BIB0010|bjd12317-cit-0010","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1046\/j.1523-1747.2000.00960-3.x","article-title":"A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia?","volume":"114","author":"Inoue","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1111\/bjd.12317-BIB0011|bjd12317-cit-0011","doi-asserted-by":"crossref","first-page":"438","DOI":"10.2340\/00015555-0484","article-title":"Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature","volume":"88","author":"Dang","year":"2008","journal-title":"Acta Derm Venereol"},{"key":"10.1111\/bjd.12317-BIB0012|bjd12317-cit-0012","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1111\/j.1440-0960.2010.00666.x","article-title":"Categorizing immunofluorescence mapping in epidermolysis bullosa with pyloric atresia: use as a broad prognostic indicator","volume":"51","author":"Frew","year":"2010","journal-title":"Australas J Dermatol"},{"key":"10.1111\/bjd.12317-BIB0013|bjd12317-cit-0013","doi-asserted-by":"crossref","first-page":"2040","DOI":"10.1097\/01.ju.0000143200.86683.2c","article-title":"Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermolysis bullosa registry and review of the literature","volume":"172","author":"Fine","year":"2004","journal-title":"J Urol"},{"key":"10.1111\/bjd.12317-BIB0014|bjd12317-cit-0014","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1016\/j.jpurol.2006.01.007","article-title":"Single-centre experience of genitourinary complications of epidermolysis bullosa","volume":"2","author":"Burgu","year":"2006","journal-title":"J Pediatr Urol"},{"key":"10.1111\/bjd.12317-BIB0015|bjd12317-cit-0015","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1083\/jcb.111.4.1593","article-title":"Epithelial integrin alpha 6 beta 4: complete primary structure of alpha 6 and variant forms of beta 4","volume":"111","author":"Tamura","year":"1990","journal-title":"J Cell Biol"},{"key":"10.1111\/bjd.12317-BIB0016|bjd12317-cit-0016","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1002\/j.1460-2075.1990.tb08171.x","article-title":"Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain","volume":"9","author":"Hogervorst","year":"1990","journal-title":"EMBO J"},{"key":"10.1111\/bjd.12317-BIB0017|bjd12317-cit-0017","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1038\/emboj.2009.48","article-title":"Structural basis of the interaction between integrin alpha6beta4 and plectin at the hemidesmosomes","volume":"28","author":"Pereda","year":"2009","journal-title":"EMBO J"},{"key":"10.1111\/bjd.12317-BIB0018|bjd12317-cit-0018","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1111\/j.1365-2133.2012.11075.x","article-title":"Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene","volume":"167","author":"Schumann","year":"2012","journal-title":"Br J Dermatol"},{"key":"10.1111\/bjd.12317-BIB0019|bjd12317-cit-0019","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1056\/NEJMoa1110813","article-title":"Integrin alpha3 mutations with kidney, lung, and skin disease","volume":"366","author":"Has","year":"2012","journal-title":"N Engl J Med"},{"key":"10.1111\/bjd.12317-BIB0020|bjd12317-cit-0020","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1083\/jcb.117.3.679","article-title":"Transforming growth factor-beta stimulates collagen VII expression by cutaneous cells in vitro","volume":"117","author":"Konig","year":"1992","journal-title":"J Cell Biol"},{"key":"10.1111\/bjd.12317-BIB0021|bjd12317-cit-0021","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1086\/515463","article-title":"Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa","volume":"60","author":"Schumann","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1111\/bjd.12317-BIB0022|bjd12317-cit-0022","doi-asserted-by":"crossref","first-page":"25937","DOI":"10.1074\/jbc.273.40.25937","article-title":"Two forms of collagen XVII in keratinocytes. A full-length transmembrane protein and a soluble ectodomain","volume":"273","author":"Schacke","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1111\/bjd.12317-BIB0023|bjd12317-cit-0023","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1111\/j.1365-2133.2012.11182.x","article-title":"ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations","volume":"168","author":"Yuen","year":"2013","journal-title":"Br J Dermatol"},{"key":"10.1111\/bjd.12317-BIB0024|bjd12317-cit-0024","doi-asserted-by":"crossref","first-page":"116","DOI":"10.2340\/00015555-1381","article-title":"Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation","volume":"93","author":"Diociaiuti","year":"2013","journal-title":"Acta Derm Venereol"},{"key":"10.1111\/bjd.12317-BIB0025|bjd12317-cit-0025","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1097\/MPG.0b013e31817af98d","article-title":"Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation","volume":"47","author":"Salvestrini","year":"2008","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1111\/bjd.12317-BIB0026|bjd12317-cit-0026","doi-asserted-by":"crossref","first-page":"436","DOI":"10.2340\/00015555-0534","article-title":"Secondary modifiers and the phenotypic variability of junctional epidermolysis bullosa","volume":"88","author":"Bruckner-Tuderman","year":"2008","journal-title":"Acta Derm Venereol"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjd.12317","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/bjd.12317\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T14:04:39Z","timestamp":1676383479000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/169\/1\/115\/6615151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,7]]}},"URL":"https:\/\/doi.org\/10.1111\/bjd.12317","relation":{},"ISSN":["0007-0963"],"issn-type":[{"value":"0007-0963","type":"print"}],"subject":[],"published":{"date-parts":[[2013,7]]}}}