{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T08:07:22Z","timestamp":1785226042264,"version":"3.55.0"},"reference-count":37,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T00:00:00Z","timestamp":1689033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003166","name":"National Foundation for Ectodermal Dysplasias","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The goal of this study was to investigate the molecular mechanisms responsible for the formation of skin erosions in patients affected by Ankyloblepharon\u2010ectodermal defects\u2010cleft lip\/palate syndrome (AEC). This ectodermal dysplasia is caused by mutations in the\n                    <jats:italic>TP63<\/jats:italic>\n                    gene, which encodes several transcription factors that control epidermal development and homeostasis. We generated induced pluripotent stem cells (iPSC) from AEC patients and corrected the\n                    <jats:italic>TP63<\/jats:italic>\n                    mutations using genome editing tools. Three pairs of the resulting conisogenic iPSC lines were differentiated into keratinocytes (iPSC\u2010K). We identified a significant downregulation of key components of hemidesmosomes and focal adhesions in AEC iPSC\u2010K compared to their gene\u2010corrected counterparts. Further, we demonstrated reduced AEC iPSC\u2010K migration, suggesting the possibility that a process critical for cutaneous wound healing might be impaired in AEC patients. Next, we generated chimeric mice expressing a\n                    <jats:italic>TP63\u2010AEC<\/jats:italic>\n                    transgene and confirmed a downregulation of these genes in transgene\u2010expressing cells in vivo. Finally, we also observed these abnormalities in AEC patient skin. Our findings suggest that integrin defects in AEC patients might weaken the adhesion of keratinocytes to the basement membrane. We propose that reduced expression of extracellular matrix adhesion receptors, potentially in conjunction with previously identified desmosomal protein defects, contribute to skin erosions in AEC.\n                  <\/jats:p>","DOI":"10.1111\/exd.14885","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T09:11:24Z","timestamp":1689066684000},"page":"1575-1581","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Effects of\n                    <scp>TP63<\/scp>\n                    mutations on keratinocyte adhesion and migration"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7421-9513","authenticated-orcid":false,"given":"Maddison N.","family":"Salois","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Brody School of Medicine East Carolina University  Greenville North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica A.","family":"Gugger","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Brody School of Medicine East Carolina University  Greenville North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saiphone","family":"Webb","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Brody School of Medicine East Carolina University  Greenville North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina E.","family":"Sheldon","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Brody School of Medicine East Carolina University  Greenville North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirley P.","family":"Parraga","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Brody School of Medicine East Carolina University  Greenville North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Michael","family":"Lewitt","sequence":"additional","affiliation":[{"name":"Illinois Dermatology Institute  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothy K.","family":"Grange","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4780-4714","authenticated-orcid":false,"given":"Peter J.","family":"Koch","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Brody School of Medicine East Carolina University  Greenville North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4448-8119","authenticated-orcid":false,"given":"Maranke 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