Article
Induction of phenotype modifying cytokines by FERMT1 mutations.
Human mutation - 1 Apr 2011
Heinemann Anja, He Yinghong, Zimina Elena, Boerries Melanie, Busch Hauke, Chmel Nadja, Kurz Thorsten, Bruckner-Tuderman Leena, Has Cristina
Abstract excerpt
Kindler syndrome (KS) is a progressive skin disorder caused by FERMT1 mutations. Early in life, KS manifests as a mechanobullous disease reflecting diminished cell adhesion, but the mechanisms of its later phenotypic features, progressive poikiloderma, and mucocutaneous fibrosis, remain elusive. The FERMT1 gene product and KS protein, kindlin-1, is an epithelial-specific phosphoprotein involved in integrin beta-1...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.