The molecular basis of human keratin disorders |
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Authors: | Meral Julia Arin |
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Institution: | (1) Department of Dermatology, University of Cologne, Kerpener Strasse 62, 50931 Cologne, Germany |
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Abstract: | Keratins are cytoskeletal proteins that provide structural support to epithelial cells and tissues. Perturbation causes cell
and tissue fragility and accounts for a large number of genetic disorders in humans. In humans, 54 functional keratin genes
exist and 21 different keratin genes including hair keratins and hair follicle-specific epithelial keratins have been associated
with hereditary disorders. Moreover, keratins have been implicated in more complex traits such as liver disease and inflammatory
bowel disease. Understanding the molecular basis of keratin disorders has been the basis for improved diagnosis with prognostic
implications, genetic counseling and prenatal testing for severe disorders. Besides their mechanical role, keratins have newly
identified functions in apoptosis, cell growth, tissue polarity, wound healing and tissue remodeling. Improved understanding
of the regulatory functions of keratins may offer novel approaches to overcome current treatment limitations. |
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