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The molecular basis of human keratin disorders

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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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This work was supported by network grants of the BMBF (Bundesministerium für Bildung und Forschung), Network for Ichthyoses and Related Keratinization disorders, NIRK (01GM0606) and Network Epidermolysis bullosa (01GM0614, 01GM0832) to MJA.

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Correspondence to Meral Julia Arin.

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Arin, M.J. The molecular basis of human keratin disorders. Hum Genet 125, 355–373 (2009). https://doi.org/10.1007/s00439-009-0646-5

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  • Ectodermal Dysplasia
  • Tail Domain
  • Keratin Gene
  • Epidermolysis Bullosa Simplex
  • Hair Keratin