Keratin diseases

Curr Opin Genet Dev. 1994 Jun;4(3):412-8. doi: 10.1016/0959-437x(94)90030-2.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Humans
  • Keratins / chemistry
  • Keratins / genetics*
  • Keratins / metabolism
  • Models, Biological
  • Molecular Structure
  • Mutation
  • Phenotype
  • Skin Diseases / genetics*
  • Skin Diseases / metabolism

Substances

  • Keratins