Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.

Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2022)

Homozygous 'knockout' mutations in KRT1 resulted in EPPK with knuckle pads rather than epidermolytic ichthyosis. We speculated that sparing of non-acral skin might be due to compensatory effect of keratin 2 upregulation by forming heterodimer with keratin 10.

Keyphrases

poor prognosis
cell proliferation
signaling pathway
soft tissue
robot assisted
long non coding rna
wild type