{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T07:17:45Z","timestamp":1787987865210,"version":"build-2784847793"},"reference-count":55,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T00:00:00Z","timestamp":1613001600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["I 2259-B26"],"award-info":[{"award-number":["I 2259-B26"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004061","name":"Oesterreichische Nationalbank","doi-asserted-by":"publisher","award":["OeNB 15620"],"award-info":[{"award-number":["OeNB 15620"]}],"id":[{"id":"10.13039\/501100004061","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GM1201"],"award-info":[{"award-number":["01GM1201"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008001","name":"Universit\u00e4t zu K\u00f6ln","doi-asserted-by":"publisher","award":["K\u00f6ln Fortune"],"award-info":[{"award-number":["K\u00f6ln Fortune"]}],"id":[{"id":"10.13039\/501100008001","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Inherited ichthyoses represent a large heterogeneous group of skin disorders characterised by impaired epidermal barrier function and disturbed cornification. Current knowledge about disease mechanisms has been uncovered mainly through the use of mouse models or human skin organotypic models. However, most mouse lines suffer from severe epidermal barrier defects causing neonatal death and human keratinocytes have very limited proliferation ability in vitro. Therefore, the development of disease models based on patient derived human induced pluripotent stem cells (hiPSCs) is highly relevant. For this purpose, we have generated hiPSCs from patients with congenital ichthyosis, either non-syndromic autosomal recessive congenital ichthyosis (ARCI) or the ichthyosis syndrome trichothiodystrophy (TTD). hiPSCs were successfully differentiated into basal keratinocyte-like cells (hiPSC-bKs), with high expression of epidermal keratins. In the presence of higher calcium concentrations, terminal differentiation of hiPSC-bKs was induced and markers KRT1 and IVL expressed. TTD1 hiPSC-bKs showed reduced expression of FLG, SPRR2B and lipoxygenase genes. ARCI hiPSC-bKs showed more severe defects, with downregulation of several cornification genes. The application of hiPSC technology to TTD1 and ARCI demonstrates the successful generation of in vitro models mimicking the disease phenotypes, proving a valuable system both for further molecular investigations and drug development for ichthyosis patients.<\/jats:p>","DOI":"10.3390\/ijms22041785","type":"journal-article","created":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T16:12:10Z","timestamp":1613146330000},"page":"1785","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers"],"prefix":"10.3390","volume":"22","author":[{"given":"Dulce","family":"Lima Cunha","sequence":"first","affiliation":[{"name":"Department of Biological and Geographical Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK"},{"name":"Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria"},{"name":"Cologne Center for Genomics, University Hospital Cologne, Weyertal 115b, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Oram","sequence":"additional","affiliation":[{"name":"Department of Biological and Geographical Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Gruber","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roswitha","family":"Plank","sequence":"additional","affiliation":[{"name":"Department of Biological and Geographical Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK"},{"name":"Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arno","family":"Lingenhel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoj K.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University Hospital Cologne, Robert-Koch-Str. 39, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Altm\u00fcller","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics, University Hospital Cologne, Weyertal 115b, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7228-428X","authenticated-orcid":false,"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics, University Hospital Cologne, Weyertal 115b, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4064-1334","authenticated-orcid":false,"given":"Matthias","family":"Schmuth","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0046-8274","authenticated-orcid":false,"given":"Johannes","family":"Zschocke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8344-1095","authenticated-orcid":false,"given":"Tomo","family":"\u0160ari\u0107","sequence":"additional","affiliation":[{"name":"Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University Hospital Cologne, Robert-Koch-Str. 39, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8838-3998","authenticated-orcid":false,"given":"Katja M.","family":"Eckl","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria"},{"name":"Department of Biology, Edge Hill University, St Helens Road, Ormskirk L39 4QP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7210-2389","authenticated-orcid":false,"given":"Hans 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