{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:01:14Z","timestamp":1792152074255,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,9,11]],"date-time":"2014-09-11T00:00:00Z","timestamp":1410393600000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Polish Funds for Science","award":["N202 262038"],"award-info":[{"award-number":["N202 262038"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>About 75% of cases of epidermolysis bullosa simplex result from 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. Here, we report a family with a novel heterozygous missense mutation p.Leu418Gln in the <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>14<\/jats:italic> gene causing <jats:styled-content style=\"fixed-case\">EBS<\/jats:styled-content> of phenotype varying from <jats:styled-content style=\"fixed-case\">EBS<\/jats:styled-content>\u2010loc to <jats:styled-content style=\"fixed-case\">EBS<\/jats:styled-content>\u2010gen intermed. To the best of our knowledge, the family reported by us is the largest one in which two different phenotypes can be distinguished. The molecular dynamics simulations show that p.Leu418Gln mutation results in clear disruption of intermolecular <jats:italic>\u03c0<\/jats:italic>\u2010stacking between <jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>14:Tyr415 and <jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>5:Tyr470, which in turn may affect putative phosphorylation site at <jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>14:Thr414. This study further supports the importance of the <jats:styled-content style=\"fixed-case\">EIATYR<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">KLLEGE<\/jats:styled-content> motif in maintaining structural stability of <jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>14:<jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>5 heterodimer and indicates that physical properties of introduced amino acid can modulate the disease severity. The results obtained indicate further need of genotype\u2013phenotype studies in <jats:styled-content style=\"fixed-case\">EBS<\/jats:styled-content>. In conclusion, genotype\u2010based prognosis should be given to patients with caution.<\/jats:p>","DOI":"10.1111\/exd.12478","type":"journal-article","created":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T09:17:00Z","timestamp":1404206220000},"page":"684-687","source":"Crossref","is-referenced-by-count":10,"title":["Novel <i><scp>KRT<\/scp>14<\/i> mutation causing epidermolysis bullosa simplex with variable phenotype"],"prefix":"10.1111","volume":"23","author":[{"given":"Marek","family":"Jankowski","sequence":"first","affiliation":[{"name":"Department of Dermatology, Sexually Transmitted Diseases and Immunodermatology Nicolaus Copernicus University Bydgoszcz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Wertheim\u2010Tysarowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafal","family":"Jakubowski","sequence":"additional","affiliation":[{"name":"Department of Biophysics and Medical Physics Institute of Physics Nicolaus Copernicus University Torun Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justyna","family":"Sota","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wieslaw","family":"Nowak","sequence":"additional","affiliation":[{"name":"Department of Biophysics and Medical Physics Institute of Physics Nicolaus Copernicus University Torun Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafal","family":"Czajkowski","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Sexually Transmitted Diseases and Immunodermatology Nicolaus Copernicus University Bydgoszcz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12021"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.09.006"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1999.3310"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2001.01334.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700571"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2330"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/prot.20089"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01508.x"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.143"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1999.03124.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09657.x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12175"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12624"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09626.x"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2006.05.008"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e10-08-0703"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fexd.12478","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.12478","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T17:55:55Z","timestamp":1696355755000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.12478"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9]]},"references-count":17,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1111\/exd.12478"],"URL":"https:\/\/doi.org\/10.1111\/exd.12478","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9]]}}}