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Article

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.

Experimental & molecular medicine - 31 Dec 2012

Kang Sang Sun, Shin Sung Hwa, Auh Chung-Kyoon, Chun Jaesun

Abstract excerpt

The transient receptor potential vanilloid 4 (TRPV4) cation channel, a member of the TRP vanilloid subfamily, is expressed in a broad range of tissues where it participates in the generation of Ca²⁺ signals and/or depolarization of the membrane potential. Regulation of TRPV4 abundance at the cell surface is critical for osmo- and mechanotransduction. Defects in TRPV4 are the cause of several human diseases,...

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Source

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Identifiers

PMID: 23143559
DOI: 10.3858/emm.2012.44.12.080
PMCID: PMC3538978

Genes

TRPV4

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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Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.PMID 23143559Read ↗

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