title: Keratins and skin disease.
abstract: Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory observations confirm a major role for keratins in maintaining epidermal cell-cell adhesion. When normal tissue homeostasis is disturbed, for example, during wound healing and cancer, keratins play an important non-mechanical role. Post-translational modifications including glycosylation and phosphorylation of keratins play an important role in protection of epithelial cells from injury. Keratins also play a role in modulation of the immune response. A current focus in the area of keratins and disease is the development of new treatments including small inhibitory RNA (siRNA) to mutant keratins and small molecules to modulate keratin expression.
authors.affiliation: Centre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
authors.forename: Maria
authors.initials: M
authors.lastname: Knöbel
authors.forename: Edel A
authors.initials: EA
authors.lastname: O'Toole
authors.forename: Frances J D
authors.initials: FJ
authors.lastname: Smith
mesh_terms: D000818:Animals; D001696:Biomechanical Phenomena; D006201:Hair Diseases / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D006801:Humans; D007633:Keratins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D012871:Skin Diseases / Q000378:metabolism* / Q000473:pathology / Q000628:therapy
chemical_list: D007633:Keratins