Keratin diseases.
The recent discovery that epidermal fragility syndromes can be caused by mutations in the genes for keratin intermediate filaments has been a turning point for research into these structural proteins. Clustering of pathogenic mutations implies differential structural sensitivity along the keratin molecule, and implications for filament function require a new look at culture assay systems, plus a reassessment of structural defects in epithelial and other tissues.
Lane
E B
EB
Department of Anatomy and Physiology, University of Dundee, UK.
D000595:Amino Acid Sequence; D006801:Humans; D007633:Keratins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D008954:Models, Biological; D015394:Molecular Structure; D009154:Mutation; D010641:Phenotype; D012871:Skin Diseases / Q000235:genetics* / Q000378:metabolism
D007633:Keratins