Article
Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.
The American journal of pathology - 1 Oct 2009
Lai-Cheong Joey E, Parsons Maddy, Tanaka Akio, Ussar Siegfried, South Andrew P, Gomathy Sethuraman, Mee John B, Barbaroux Jean-Baptiste, Techanukul Tanasit, Almaani Noor, Clements Suzanne E, Hart Ian R, McGrath John A
Abstract excerpt
Kindler syndrome is an autosomal recessive disorder characterized by skin atrophy and blistering. It results from loss-of-function mutations in the FERMT1 gene encoding the focal adhesion protein, fermitin family homolog-1. How and why deficiency of fermitin family homolog-1 results in skin atrophy and blistering are unclear. In this study, we investigated the epidermal basement membrane and keratinocyte biology...
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