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Article

Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.

American journal of physiology. Renal physiology - 1 Oct 2000

Kamsteeg E J, Deen P M

Abstract excerpt

Aquaporin-2 (AQP2) water channel mutations cause autosomal recessive and dominant nephrogenic diabetes insipidus. Expressed in oocytes, a mutant in dominant (AQP2-E258K), but not in recessive (AQP2-R187C), NDI conferred a specific dominant-negative effect (DNE) on wild-type (WT) AQP2 water permea...

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Source

Identifiers

PMID: 10997928
DOI: 10.1152/ajprenal.2000.279.4.F778

Genes

AQP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10997928-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.PMID 10997928Read ↗

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

An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.Semantic proximity Read ↗

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

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.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 ↗

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