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Article

Novel signalling pathways in nephrogenic syndrome of inappropriate antidiuresis: functional implication of site-specific AQP2 phosphorylation.

The Journal of physiology - 1 Jul 2024

Venneri Maria, Vezzi Vanessa, Di Mise Annarita, Ranieri Marianna, Centrone Mariangela, Tamma Grazia, Nejsum Lene N, Valenti Giovanna

Abstract excerpt

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked disease caused by gain-of-function mutations of arginine vasopressin receptor 2 (V2R). Patients with NSIAD are characterized by the inability to excrete a free water load and by inappropriately increased urinary osmolality despite very low levels of plasma vasopressin, resulting in euvolaemic hyponatraemia. To dissect the signalling...

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Identifiers

PMID: 36823952
DOI: 10.1113/JP284039

Genes

AQP2
AVPR2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Novel signalling pathways in nephrogenic syndrome of inappropriate antidiuresis: functional implication of site-specific AQP2 phosphorylation.PMID 36823952Read ↗

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