Endoplasmic reticulum stress in the pathogenesis of pretibial dystrophic epidermolysis bullosa

Br J Dermatol. 2017 Oct;177(4):e92-e93. doi: 10.1111/bjd.15342. Epub 2017 Aug 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics
  • Collagen Type VII / genetics
  • Endoplasmic Reticulum Chaperone BiP
  • Endoplasmic Reticulum Stress / genetics*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Female
  • HEK293 Cells
  • Heat-Shock Proteins / genetics
  • Humans
  • Keratinocytes
  • Microscopy, Electron, Transmission
  • Mutation / genetics
  • Transfection
  • Up-Regulation

Substances

  • COL7A1 protein, human
  • Collagen Type VII
  • Endoplasmic Reticulum Chaperone BiP
  • Heat-Shock Proteins

Supplementary concepts

  • Epidermolysis bullosa, pretibial