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Article

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

American journal of medical genetics. Part A - 1 Oct 2015

Hurd Lauren, Kirwin Susan M, Boggs Mary, Mackenzie William G, Bober Michael B, Funanage Vicky L, Duncan Randall L

Abstract excerpt

Transient receptor potential cation channel, subfamily V, member 4 (TRPV4) is a polymodal modulated non-selective cation channel required for normal development and maintenance of bone and cartilage. Heterozygous mutations of this channel cause a variety of channelopathies, including metatropic dysplasia (MD). We analyzed the effect of a novel TRPV4 mutation c.2398G>A, p.Gly800Asp on intracellular calcium...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26249260
DOI: 10.1002/ajmg.a.37182

Genes

TRPV4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.PMID 26249260Read ↗

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Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.Semantic proximity Read ↗

The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.Semantic proximity Read ↗

[Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported].Semantic proximity Read ↗

Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes.Semantic proximity Read ↗

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.Semantic proximity Read ↗

Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytesSemantic proximity Read ↗

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