{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T07:52:24Z","timestamp":1740124344996,"version":"3.37.3"},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T00:00:00Z","timestamp":1558310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Polish Ministry for Science and Higher Education","award":["0003\/ID3\/2016\/64"],"award-info":[{"award-number":["0003\/ID3\/2016\/64"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidermolysis bullosa is a group of inherited blistering skin diseases resulting in most cases from missense mutations in <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>5<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>14<\/jats:italic> genes encoding the basal epidermal keratins 5 and 14. Here, we present a patient diagnosed with a localized subtype of epidermolysis bullosa simplex caused by a heterozygous mutation p.Ala428Asp in the <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>5<\/jats:italic> gene, that has not been previously identified. Moreover, a bioinformatic analysis of the novel mutation was performed, showing changes in the interaction network between the proteins. Identification of novel mutations and genotype\u2010phenotype correlations allow to better understanding of underlying pathophysiologic bases and is important for genetic counselling, patients\u2019 management, and disease course prediction.<\/jats:p>","DOI":"10.1111\/exd.13788","type":"journal-article","created":{"date-parts":[[2018,9,22]],"date-time":"2018-09-22T02:18:43Z","timestamp":1537582723000},"page":"1131-1134","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel <i>de novo<\/i> mutation p.Ala428Asp in <i><scp>KRT<\/scp>5<\/i> gene as a cause of localized epidermolysis bullosa simplex"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8289-376X","authenticated-orcid":false,"given":"Marta","family":"Stawczyk\u2010Macieja","sequence":"first","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology Medical University of Gda\u0144sk  Gda\u0144sk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Wertheim\u2010Tysarowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafa\u0142","family":"Jakubowski","sequence":"additional","affiliation":[{"name":"Centre of New Technologies University of Warsaw  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aneta","family":"Szczerkowska\u2010Dobosz","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology Medical University of Gda\u0144sk  Gda\u0144sk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Krygier","sequence":"additional","affiliation":[{"name":"Department of Biology and Genetics Medical University of Gda\u0144sk  Gda\u0144sk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Wilkowska","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology Medical University of Gda\u0144sk  Gda\u0144sk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justyna","family":"Sawicka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wies\u0142aw","family":"Nowak","sequence":"additional","affiliation":[{"name":"Institute of Physics Faculty of Physics, Astronomy and Informatics Nicolaus Copernicus University  Torun Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerzy","family":"Bal","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roman","family":"Nowicki","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology Medical University of Gda\u0144sk  Gda\u0144sk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.4103\/2319-7250.131845"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-015-0310-9"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12478"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01508.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10428.x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700571"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0493-327"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2330"},{"key":"e_1_2_9_11_1","first-page":"55","volume":"2004","author":"Smith T. A.","journal-title":"Proteins"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fexd.13788","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.13788","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/exd.13788","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.13788","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T09:35:17Z","timestamp":1694252117000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.13788"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,20]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1111\/exd.13788"],"URL":"https:\/\/doi.org\/10.1111\/exd.13788","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"type":"print","value":"0906-6705"},{"type":"electronic","value":"1600-0625"}],"subject":[],"published":{"date-parts":[[2019,5,20]]},"assertion":[{"value":"2017-12-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-08-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}