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Article

A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia.

Proceedings of the National Academy of Sciences of the United States of America - 18 Aug 2009

Tian Wei, Fu Yi, Garcia-Elias Anna, Fernández-Fernández José M, Vicente Rubén, Kramer Patricia L, Klein Robert F, Hitzemann Robert, Orwoll Eric S, Wilmot Beth, McWeeney Shannon, Valverde Miguel A, Cohen David M

Abstract excerpt

Disorders of water balance are among the most common and morbid of the electrolyte disturbances, and are reflected clinically as abnormalities in the serum sodium concentration. The transient receptor potential vanilloid 4 (TRPV4) channel is postulated to comprise an element of the central tonicity-sensing mechanism in the mammalian hypothalamus, and is activated by hypotonic stress in vitro. A nonsynonymous...

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Identifiers

PMID: 19666518
DOI: 10.1073/pnas.0904084106
PMCID: PMC2729015

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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