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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 permeability (P(f)) but only at low expression levels. Here, we determined the cell biological basis for this requirement....

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 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 ↗

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

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 ↗

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