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Article

Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus.

Clinical endocrinology - 1 Sept 2009

Ranadive Sayali A, Ersoy Baran, Favre Helene, Cheung Clement C, Rosenthal Stephen M, Miller Walter L, Vaisse Christian

Abstract excerpt

OBJECTIVE: X-linked nephrogenic diabetes insipidus (XNDI), caused by mutations in the V2 vasopressin receptor (V2R), is clinically distinguished from central diabetes insipidus (CDI) by elevated serum vasopressin (AVP) levels and unresponsiveness to 1-desamino-8-d-arginine vasopressin (DDAVP). We report two infants with XNDI, and present the characterization and functional rescue of a novel V2R mutation....

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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: 19170711
DOI: 10.1111/j.1365-2265.2008.03513.x
PMCID: PMC5881569

Genes

AVP
AVPR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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