JCI insightAnimalsTRPV Cation ChannelsMiceChondrocytesPhenotype
Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice.
Lisette Nevarez, Taylor K Ismaili, Jennifer Zieba, Jorge Martin, Davis Wachtell, Derick Diaz, Jocelyn A Ramirez, Valeria Aceves, Joshua Ito, Ryan S Gray, David Goldstein, Sunil Sahdeo, Deborah Krakow, Daniel H Cohn
Published: 202610.1172/jci.insight.182439
Abstract
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…
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