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Experimental Models for the Study of Hereditary Cornification Defects
Ichthyoses comprise a broad spectrum of keratinization disorders due to hereditary defects of cornification. Until now, mutations in more than 50 genes, mostly coding for structural proteins involved in epidermal barrier formation, have been identified as causes for different types of these keratini...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996736/ https://www.ncbi.nlm.nih.gov/pubmed/33652877 http://dx.doi.org/10.3390/biomedicines9030238 |
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author | Copic, Dragan Laggner, Maria Kalinina, Polina Klas, Katharina Tschachler, Erwin Mildner, Michael |
author_facet | Copic, Dragan Laggner, Maria Kalinina, Polina Klas, Katharina Tschachler, Erwin Mildner, Michael |
author_sort | Copic, Dragan |
collection | PubMed |
description | Ichthyoses comprise a broad spectrum of keratinization disorders due to hereditary defects of cornification. Until now, mutations in more than 50 genes, mostly coding for structural proteins involved in epidermal barrier formation, have been identified as causes for different types of these keratinization disorders. However, due to the high heterogeneity and difficulties in the establishment of valid experimental models, research in this field remains challenging and translation of novel findings to clinical practice is difficult. In this review, we provide an overview of existing models to study hereditary cornification defects with focus on ichthyoses and palmoplantar keratodermas. |
format | Online Article Text |
id | pubmed-7996736 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-79967362021-03-27 Experimental Models for the Study of Hereditary Cornification Defects Copic, Dragan Laggner, Maria Kalinina, Polina Klas, Katharina Tschachler, Erwin Mildner, Michael Biomedicines Review Ichthyoses comprise a broad spectrum of keratinization disorders due to hereditary defects of cornification. Until now, mutations in more than 50 genes, mostly coding for structural proteins involved in epidermal barrier formation, have been identified as causes for different types of these keratinization disorders. However, due to the high heterogeneity and difficulties in the establishment of valid experimental models, research in this field remains challenging and translation of novel findings to clinical practice is difficult. In this review, we provide an overview of existing models to study hereditary cornification defects with focus on ichthyoses and palmoplantar keratodermas. MDPI 2021-02-26 /pmc/articles/PMC7996736/ /pubmed/33652877 http://dx.doi.org/10.3390/biomedicines9030238 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ). |
spellingShingle | Review Copic, Dragan Laggner, Maria Kalinina, Polina Klas, Katharina Tschachler, Erwin Mildner, Michael Experimental Models for the Study of Hereditary Cornification Defects |
title | Experimental Models for the Study of Hereditary Cornification Defects |
title_full | Experimental Models for the Study of Hereditary Cornification Defects |
title_fullStr | Experimental Models for the Study of Hereditary Cornification Defects |
title_full_unstemmed | Experimental Models for the Study of Hereditary Cornification Defects |
title_short | Experimental Models for the Study of Hereditary Cornification Defects |
title_sort | experimental models for the study of hereditary cornification defects |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996736/ https://www.ncbi.nlm.nih.gov/pubmed/33652877 http://dx.doi.org/10.3390/biomedicines9030238 |
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