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

GSE263775 Mus musculus Expression profiling by high throughput sequencing 5 samples Submitted 2025/10/28 Platform GPL24247
Summary
The TRPV4 skeletal disorders are characterized by short stature and scoliosis but the cellular mechanisms behind this phenotype are unclear. We isolated tibial and femoral cartilage growth plate chondrocytes from postnatal day 3 wild type and Col2a1-Cre driven Trpv4 p.R594H conditional knock-in mice, which models the phenotype, and analyzed differential expression patterns using single cell RNA-seq.
Published in
Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice
Nevarez L, Ismaili TK, Zieba J et al. · JCI insight 2026 · PMID 41574606 · doi:10.1172/jci.insight.182439
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Also filed as BioProject PRJNA1099218 and SRA study SRP501216. Searching any of these in the dataset finder brings you back here.

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