title: Phenotypes, genotypes and their contribution to understanding keratin function.
abstract: A large number of mutations in keratin genes underlie inherited tissue fragility disorders of epithelia. The genotype-phenotype correlations emerging from these studies provide a rich source of information about the function of keratins that would have taken decades to achieve by a purely transgenic approach. Human disease studies are being supplemented by engineered mouse mutant studies, which give access to the effects of genetic alterations unlikely to occur naturally. Evidence is emerging that the great diversity of keratins might be required to enable cells to adapt their structure in response to different signalling pathways.
authors.affiliation: Cancer Research UK Cell Structure Research Group, School of Life Sciences, MSI/WTB Complex, University of Dundee, Dundee DD1 5EH, UK.
authors.forename: Rebecca M
authors.initials: RM
authors.lastname: Porter
authors.forename: E Birgitte
authors.initials: EB
authors.lastname: Lane
mesh_terms: D000818:Animals; D004817:Epidermis / Q000473:pathology*; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D004848:Epithelium / Q000473:pathology*; D005838:Genotype; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology; D007633:Keratins / Q000235:genetics*; D051379:Mice / Q000235:genetics*; D018345:Mice, Knockout; D008957:Models, Genetic; D016296:Mutagenesis; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D007633:Keratins