PMID: 18407239Dec 1, 1994Paper

Molecular characterization of nephrogenic diabetes insipidus

Trends in Endocrinology and Metabolism : TEM
N V Knoers

Abstract

Nephrogenic diabetes insipidus (NDI) is characterized by insensitivity of the distal renal nephron to the antidiuretic effect of the neurohypophyseal hormone arginine vasopressin. In the last 2 years, two different genetic defects causing the NDI phenotype have been identified. The genes involved encode proteins that reside at both ends of the cellular vasopressin signaling cascade, namely the vasopressin V(2) receptor and the aquaporin-2 water channel. Analysis of naturally occurring mutations in the V(2) receptor and the aquaporin-2 water channel will facilitate the study of structure-function correlates of both proteins, which will lead to substantial progress in elucidating the cellular mechanisms involved in the antidiuretic effect of vasopressin.

References

Sep 1, 1992·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·N Knoers, L A Monnens
May 28, 1992·Nature·M Sharif, M R Hanley
May 28, 1992·Nature·M BirnbaumerW Rosenthal
Jan 1, 1991·American Journal of Medical Genetics·J M LangleyJ T Clarke
Mar 1, 1991·European Journal of Pediatrics·N Knoers, L A Monnens
Nov 1, 1989·The American Journal of Physiology·A S Verkman
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May 27, 1993·The New England Journal of Medicine·E J HoltzmanD A Ausiello

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Citations

Nov 25, 2000·Trends in Endocrinology and Metabolism : TEM·M Birnbaumer
Sep 10, 2002·Trends in Endocrinology and Metabolism : TEM·Landon S King, Masato Yasui
Aug 5, 1999·Kidney International·B Andersen-BeckhA Oksche
Sep 27, 2002·Journal of Veterinary Internal Medicine·Michele Cohen, Gerald S Post
Nov 20, 1998·The American Journal of the Medical Sciences·P M Deen, N V Knoers

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