{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T16:36:34Z","timestamp":1781109394241,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,1,29]],"date-time":"2014-01-29T00:00:00Z","timestamp":1390953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic deficiency of type <jats:styled-content style=\"fixed-case\">XVII<\/jats:styled-content> collagen (C17), laminin\u2010332 or type <jats:styled-content style=\"fixed-case\">VII<\/jats:styled-content> collagen causes epidermolysis bullosa (<jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content>). Spontaneous correction of the deficiency, also known as revertant mosaicism, is caused by a second somatic mutation that restores protein expression resulting in clinically healthy (revertant) patches surrounded by fragile (mutant) skin. Interestingly, in some patients, patches of revertant skin show hyperpigmentation. To study the possible role of affected proteins in pigmentation and melanocyte distribution, we investigated clinical documentation and skin biopsy specimens of 13 revertant <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> patients having correcting mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>17A1, <jats:styled-content style=\"fixed-case\">LAMB<\/jats:styled-content>3<\/jats:italic> or <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic> genes. Analysis revealed that lack of C17 led to decreased melanin intensity and melanocyte density in the epidermis when compared with the revertant patches. Reversions of <jats:italic><jats:styled-content style=\"fixed-case\">LAMB<\/jats:styled-content>3<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic> in keratinocytes did not influence clinical pigmentation or density of melanocytes. We conclude that in human skin, melanocyte supply to the epidermis depends on C17 expression in keratinocytes.<\/jats:p>","DOI":"10.1111\/exd.12304","type":"journal-article","created":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T18:03:19Z","timestamp":1386784999000},"page":"130-132","source":"Crossref","is-referenced-by-count":11,"title":["Pigmentation and melanocyte supply to the epidermis depend on type <scp>XVII<\/scp> collagen"],"prefix":"10.1111","volume":"23","author":[{"given":"Antoni","family":"Gosty\u0144ski","sequence":"first","affiliation":[{"name":"Center for Blistering Diseases Department of Dermatology University of Groningen University Medical Center Groningen Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna M.G.","family":"Pasmooij","sequence":"additional","affiliation":[{"name":"Center for Blistering Diseases Department of Dermatology University of Groningen University Medical Center Groningen Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcela","family":"Del Rio","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Unit CIEMAT and Centro de Investigaciones Biomedicas en Red De Enfermedades Raras (CIBERER U714) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles F.","family":"Diercks","sequence":"additional","affiliation":[{"name":"Center for Blistering Diseases Department of Dermatology University of Groningen University Medical Center Groningen Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendri H.","family":"Pas","sequence":"additional","affiliation":[{"name":"Center for Blistering Diseases Department of Dermatology University of Groningen University Medical Center Groningen Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel F.","family":"Jonkman","sequence":"additional","affiliation":[{"name":"Center for Blistering Diseases Department of Dermatology University of Groningen University Medical Center Groningen Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,1,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2009.00912.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.1999.tb00373.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2010.11.029"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2011.01426.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI30465"},{"key":"e_1_2_6_7_1","first-page":"167","volume":"14","author":"Pasmooij A M","year":"2012","journal-title":"Discov Med"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81894-2"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.477"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/497344"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2006.07730.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2012.01529.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R400034200"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1496"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2009.12.010"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2010.01.006"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.181"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12289743"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-78771-3_12"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2011.298"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.163"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fexd.12304","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.12304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T11:56:11Z","timestamp":1696334171000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.12304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,29]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1111\/exd.12304"],"URL":"https:\/\/doi.org\/10.1111\/exd.12304","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,29]]}}}