• basal
  • Epidermolysis bullosa simplex (EBS) and epidermolytic ichthyosis (EI) are rare skin fragility diseases characterized by intra-epidermal blistering due to autosomal dominant-negative mutations in basal ( KRT5 or KRT14 ) and suprabasal ( KRT1 or KRT10) keratin genes, respectively. (diva-portal.org)
  • 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)
  • A gene on chromosome 21q22.1 that encodes a keratin-associated protein-which interacts with hair keratins-that is weakly expressed in the late matrix and entire cortex area of the hair follicle. (thefreedictionary.com)