pubmed.ncbi.nlm.nih.gov
Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice - PubMed
The TRPV4 skeletal dysplasias are characterized by short stature, short limbs with prominent large joints, and progressive scoliosis. They result from dominant missense mutations that activate the TRPV4 calcium permeable ion channel. As a platform to understand the mechanism of disease and to test t …