Article
A mutation of keratin 18 within the coil 1A consensus motif causes widespread keratin aggregation but cell type-restricted lethality in mice.
Experimental cell research - 15 Aug 2007
Hesse Michael, Grund Christine, Herrmann Harald, Bröhl Dominique, Franz Thomas, Omary M Bishr, Magin Thomas M
Abstract excerpt
Mutations in genes encoding epidermal keratins cause skin disorders, while those in internal epithelial keratins, such as K8 and K18, are risk factors for liver diseases. The effect of dominant mutations in K8 or K18 during embryonic development and tissue homeostasis has not been examined so far. Here we demonstrate that the dominant mutation hK18 R89C, that is highly similar to hK14 R125C, causing EBS in...
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