Abstract
Recent research into the molecular basis of epidermolysis bullosa has provided a unique insight into a variety of mechanisms in normal cell biology, such as cell-matrix interactions, and has uncovered an excellent model for studies on keratin intermediate filaments. The simplex forms of epidermolysis bullosa are caused by mutations in the genes for the basal epidermal keratins, K5 and K14. Most mutations affect highly conserved parts of the molecules, illustrating their importance in normal keratin filament assembly and integrity. Mutations in corresponding regions of the differentiation-associated keratins, K1 and K10 can also occur in epidermolytic ichthyosis. Both recessive and dominant forms of dystrophic epidermolysis bullosa result from mutations in an anchoring fibril collagen gene, COL7A1. Junctional epidermolysis bullosa is caused by mutations in the genes encoding different chains of the novel laminin isoform, nicein/ kalinin, also known as laminin 5, which is associated with the anchoring filament-hemidesmosome complex of the basement membrane zone. These recent findings strengthen the evidence for the role of nicein/kalinin and type VII collagen in adherence and stabilization of the dermo-epidermal junction.
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Eady, R.A.J., Dunnill, M.G.S. Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology. Arch Dermatol Res 287, 2–9 (1994). https://doi.org/10.1007/BF00370710
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DOI: https://doi.org/10.1007/BF00370710