Article
Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.
Journal of cell science - 1 Nov 1995
Morley S M, Dundas S R, James J L, Gupta T, Brown R A, Sexton C J, Navsaria H A, Leigh I M, Lane E B
Abstract excerpt
Point mutations in the keratin intermediate filament genes for keratin 5 or keratin 14 are known to cause hereditary skin blistering disorders such as epidermolysis bullosa simplex, in which epidermal keratinocytes are extremely fragile and the skin blisters on mild trauma. We show that in 2 phenotypically diverse cases of epidermolysis bullosa simplex, the keratin mutations result in a thermoinstability of the...
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