{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:58:49Z","timestamp":1790431129900,"version":"4.1.0"},"reference-count":47,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2018,7,17]],"date-time":"2018-07-17T00:00:00Z","timestamp":1531785600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"German Research Foundation DFG","award":["NY90\/2-1, NY90\/3-2"],"award-info":[{"award-number":["NY90\/2-1, NY90\/3-2"]}]},{"DOI":"10.13039\/501100002714","name":"University of Freiburg","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002714","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100008081","name":"Dystrophic Epidermolysis Bullosa Research Association","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008081","id-type":"DOI","asserted-by":"crossref"}]},{"name":"German Research Foundation DFG","award":["KI1795\/1-1"],"award-info":[{"award-number":["KI1795\/1-1"]}]},{"name":"EB Research Partnership"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous skin fragility disorder characterized by trauma-induced skin dissociation and the development of painful wounds. So far, mutations in 20 genes have been described as being associated with more than 30 clinical EB subtypes. The era of whole-exome sequencing has revolutionized EB diagnostics with gene panels being developed in several EB centers and allowing quicker diagnosis and prognostication. With the advances of gene editing, more focus has been placed on gene editing-based therapies for targeted treatment. However, their implementation in daily care will still take time. Thus, a significant focus is currently being placed on achieving a better understanding of the pathogenetic mechanisms of each subtype and using this knowledge for the design of symptom-relief therapies, i.e. treatment options aimed at ameliorating and not curing the disease.<\/ns4:p>","DOI":"10.12688\/f1000research.14974.1","type":"journal-article","created":{"date-parts":[[2018,7,17]],"date-time":"2018-07-17T11:00:15Z","timestamp":1531825215000},"page":"1097","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":16,"title":["Recent advances in understanding and managing epidermolysis bullosa"],"prefix":"10.12688","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2331-8981","authenticated-orcid":false,"given":"Dimitra","family":"Kiritsi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Nystr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2560","published-online":{"date-parts":[[2018,7,17]]},"reference":[{"key":"ref-1","doi-asserted-by":"publisher","first-page":"107-14","DOI":"10.1016\/j.det.2009.10.020","article-title":"Dystrophic epidermolysis bullosa: pathogenesis and clinical features.","volume":"28","author":"L Bruckner-Tuderman","year":"2010","journal-title":"Dermatol Clin."},{"key":"ref-2","doi-asserted-by":"publisher","first-page":"1103-26","DOI":"10.1016\/j.jaad.2014.01.903","article-title":"Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.","volume":"70","author":"J Fine","year":"2014","journal-title":"J Am Acad Dermatol."},{"key":"ref-3","doi-asserted-by":"publisher","first-page":"387-402","DOI":"10.1016\/j.jaad.2009.03.053","article-title":"Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. 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status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.5256\/f1000research.16302.r36031, Dedee Murrell, Department of Medicine, St George Hospital, University of New South Wales, Sydney, Australia, 17 Jul 2018, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/7-1097\/v1#referee-response-36031","order":0,"name":"referee-response-36031","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.16302.r36030, Gerhard Wiche, Department of Biochemistry & Cell Biology, Perutz Laboratories, University of Vienna, Vienna, Austria, 17 Jul 2018, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/7-1097\/v1#referee-response-36030","order":1,"name":"referee-response-36030","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"DK\u2019s work has been supported by the German Research Foundation DFG (KI1795\/1-1), EB Research 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AN has been supported by the German Research Foundation DFG (NY90\/2-1, NY90\/3-2), SFB850 project B11, and the Dystrophic Epidermolysis Bullosa Research Association (DEBRA). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}