Article
Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking.
Molecular endocrinology (Baltimore, Md.) - 1 Aug 2016
Tiulpakov Anatoly, White Carl W, Abhayawardana Rekhati S, See Heng B, Chan Audrey S, Seeber Ruth M, Heng Julian I, Dedov Ivan, Pavlos Nathan J, Pfleger Kevin D G
Abstract excerpt
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a genetic disease first described in 2 unrelated male infants with severe symptomatic hyponatremia. Despite undetectable arginine vasopressin levels, patients have inappropriately concentrated urine resulting in hyponatremia, hypoosmolality, and natriuresis. Here, we describe and functionally characterize a novel vasopressin type 2 receptor (V2R)...
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