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Article

Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice.

JCI insight - 23 Jan 2026

Nevarez Lisette, Ismaili Taylor K, Zieba Jennifer, Martin Jorge, Wachtell Davis, Diaz Derick, Ramirez Jocelyn A, Aceves Valeria, Ito Joshua, Gray Ryan S, Goldstein David, Sahdeo Sunil, Krakow Deborah, Cohn Daniel H

Abstract excerpt

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 the hypothesis that channel inhibition could treat these disorders, we developed a knock-in mouse that conditionally...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41574606
DOI: 10.1172/jci.insight.182439
PMCID: PMC12892883

Genes

TRPV4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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