Article
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
EBioMedicine - 1 Dec 2020
Barad Maya, Csukasi Fabiana, Bosakova Michaela, Martin Jorge H, Zhang Wenjuan, Paige Taylor S, Lachman Ralph S, Zieba Jennifer, Bamshad Michael, Nickerson Deborah, Chong Jessica X, Cohn Daniel H, Krejci Pavel, Krakow Deborah, Duran Ivan
Abstract excerpt
BACKGROUND: Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with intracellular signaling pathways and cell to cell interactions to control differentiation, proliferation, migration and survival. Alterations in extracellular proteins cause a number of skeletal disorders, yet the consequences of an abnormal ECM on...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.