• KRT5
  • An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. (jax.org)
  • protein
  • In EB simplex, there is a weakness in one of these proteins (usually type 5 or type 14 keratin, but very occasionally another protein called plectin), which causes affected cells to be less resilient to friction and to rupture when subjected to even minor physical stress. (skinsupport.org.uk)
  • The protein product of the gene works with keratin 5 to provide resiliency to the outer layers of skin. (optometricmanagement.com)
  • cell
  • In this study, the effects of two chemical chaperones (trimethylamine-N oxide (TMAO) and 4-phenylbutyrate (4-PBA)) on heat stress-induced keratin aggregation responses were examined in newly and previously established immortalized control and EBS patient-derived keratinocyte cell lines. (diva-portal.org)
  • Heat-induced keratin-positive aggregates were observed in all EBS cells, which were most prominent in severe keratin-defective cell lines and less so in normal cells. (diva-portal.org)
  • Each cell has an internal support system formed from proteins (keratins), giving it strength and shape. (skinsupport.org.uk)