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[From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus].

Nederlands tijdschrift voor geneeskunde - 9 Dec 2000

Knoers N V, Deen P M

Abstract excerpt

In the kidney, binding of arginine vasopressin to the vasopressin type-2 receptor (V2R) causes redistribution of aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical cell membrane, a process which initiates urine concentration. This is disturbed in nephrogenic diabetes insipidus due to mutations in the V2R gene, which lies on Xq28 and has a sex-linked recessive heredity, or the AQP2 gene,...

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Source

Identifiers

PMID: 11145096

Genes

AQP2

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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