Article
Mutations in fibronectin dysregulate chondrogenesis in skeletal dysplasia.
Cellular and molecular life sciences : CMLS - 5 Oct 2024
Dinesh Neha E H, Rousseau Justine, Mosher Deane F, Strauss Mike, Mui Jeannie, Campeau Philippe M, Reinhardt Dieter P
Abstract excerpt
Fibronectin (FN) is an extracellular matrix glycoprotein essential for the development and function of major vertebrate organ systems. Mutations in FN result in an autosomal dominant skeletal dysplasia termed corner fracture-type spondylometaphyseal dysplasia (SMDCF). The precise pathomechanisms through which mutant FN induces impaired skeletal development remain elusive. Here, we have generated patient-derived...
Topics
Join the communities discussing this publication.