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Article

Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2007

Kotnik Primoz, Battelino Tadej, Debeljak Marusa, Podkrajsek Katarina Trebusak, Waldhauser Franz, Frøkiaer Jørgen, Nielsen Søren, Krzisnik Ciril

Abstract excerpt

Activation of the V2 receptor by arginine vasopressin (AVP) results in trafficking of the water channel AQP2 to the luminal plasma membrane and a small amount into the urine. Mutations in the A VPR2 gene, encoding the AVP V2 receptor, result in congenital nephrogenic diabetes insipidus (CNDI). To...

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Share to Adolescent
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dehydration

Share to Diabetes Insipidus, Nephrogenic

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Share to Receptors, Vasopressin

Source

Identifiers

PMID: 17550212
DOI: 10.1515/jpem.2007.20.4.483

Genes

AQP2
AVP
AVPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17550212-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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