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Article

Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.

American journal of physiology. Renal physiology - 1 Aug 2009

Guyon Cécile, Lussier Yoann, Bissonnette Pierre, Leduc-Nadeau Alexandre, Lonergan Michèle, Arthus Marie-Françoise, Perez Rafael Bedoya, Tiulpakov Anatoly, Lapointe Jean-Yves, Bichet Daniel G

Abstract excerpt

Aquaporin-2 (AQP2) is a water channel responsible for the final water reabsorption in renal collecting ducts. Alterations in AQP2 function induce nephrogenic diabetes insipidus (NDI), a condition characterized by severe polyuria and polydipsia. Three patients affected with severe NDI, who were co...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19458121
DOI: 10.1152/ajprenal.90589.2008
PMCID: PMC4067249

Genes

AQP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19458121-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.PMID 19458121Read ↗

New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.Semantic proximity Read ↗

Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.Semantic proximity Read ↗

Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.Semantic proximity Read ↗

Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.Semantic proximity Read ↗

Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.Semantic proximity Read ↗

Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus.Semantic proximity Read ↗

Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.Semantic proximity Read ↗

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidusSemantic proximity Read ↗

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.Semantic proximity Read ↗

A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.Semantic proximity Read ↗

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.Semantic proximity Read ↗

Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression.Semantic proximity Read ↗

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