Journal
CELL AND TISSUE RESEARCH
Volume 360, Issue 3, Pages 583-589Publisher
SPRINGER
DOI: 10.1007/s00441-014-2105-4
Keywords
Keratin; Genetics; Pachyonychia; Ichthyosis; siRNA; Epidermolysis bullosa simplex
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Funding
- Pachyonychia Project
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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.
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