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

Abstract

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… (More)
DOI: 10.1073/pnas.0904084106

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Cite this paper

@article{Tian2009ALN, title={A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia.}, author={Wei Tian and Yi Fu and Anna Garcia-Elias and Jos{\'e} M Fern{\'a}ndez-Fern{\'a}ndez and Rub{\'e}n Vicente and Patricia Kramer and Robert F. Klein and Robert Hitzemann and Eric S. Orwoll and Beth Wilmot and Shannon K. McWeeney and Miguel A. G. Valverde and David M. Cohen}, journal={Proceedings of the National Academy of Sciences of the United States of America}, year={2009}, volume={106 33}, pages={14034-9} }