October 2023

Deciphering the role of missense mutations in Epidermolysis Bullosa Simplex

Epidermolysis Bullosa Simplex (EBS) is a genodermatosis characterized by the production of superficial bullous lesions on the skin as a result of minor mechanical or frictional injury. It is caused by mutation in either the Keratin 5(KRT5) or Keratin 14(KRT14) gene. This paper used various computational approaches to understand the effect of select missense mutations in KRT5. The crystal structure of the 2B domain of...

Author(s): Akanksha Sharma and Ranvir Singh