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Aquaporin 2 Mutations in Nephrogenic Diabetes Insipidus

Authors: Loonen, A.J.M.; Knoers, N.V.A.M.; Os, C.H. van; Deen, P.M.T.;

Aquaporin 2 Mutations in Nephrogenic Diabetes Insipidus

Abstract

Water reabsorption in the renal collecting duct is regulated by the antidiuretic hormone vasopressin (AVP). When the vasopressin V2 receptor, present on the basolateral site of the renal principal cell, becomes activated by AVP, aquaporin-2 (AQP2) water channels will be inserted in the apical membrane, and in this fashion, water can be reabsorbed from the pro-urine into the interstitium. The essential role of the vasopressin V2 receptor and AQP2 in the maintenance of body water homeostasis became clear when it was shown that mutations in their genes cause nephrogenic diabetes insipidus, a disorder in which the kidney is unable to concentrate urine in response to AVP. This review describes the current knowledge on AQP2 mutations in nephrogenic diabetes insipidus.

Country
Netherlands
Keywords

Aquaporin 2, IGMD 9: Renal disorder, NCMLS 2: Metabolism, transport and motion, Diabetes Insipidus, Nephrogenic, Genes, Recessive, UMCN 5.4: Renal disorders, NCMLS 5: Membrane transport and intracellular motility, UMCN 5.1: Genetic defects of metabolism, Disease Models, Animal, Mice, Mutation, Animals, Humans, IGMD 5: Health aging / healthy living, Genes, Dominant

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
82
Top 10%
Top 10%
Top 10%
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