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Article: Gene Mutation Results In Keratin Networks That Break Under Pressure.
- Article from:
- Genomics & Genetics Weekly
- Article date:
- April 27, 2001
CopyrightCOPYRIGHT 2001 NewsRX. This material is published under license from the publisher through the Gale Group, Farmington Hills, Michigan. All inquiries regarding rights should be directed to the Gale Group. (Hide copyright information)
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2001 APR 27 - (NewsRx Network) -- Johns Hopkins University medical researchers have described the molecular effect of a mutation commonly found in a keratin gene of patients affected by the skin fragility disorder epidermolysis bullosa simplex (EBS).
Keratins are proteins that form rod-like structures and assemble as a criss-crossed web within skin cells to give them structure and support from outside pressure. In EBS, mutations can occur in two of the many keratin genes present in skin cells.
In the May 2001 issue of Nature Cell Biology, Pierre Coulombe and colleagues describe the mechanical properties of one of these defective keratin proteins.
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