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Article

Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.

Physiological reports - 1 Jun 2021

Bissonnette Pierre, Lussier Yoann, Matar Jessica, Leduc-Nadeau Alexandre, Da Cal Sandra, Arthus Marie-Françoise, Unwin Robert J, Steinke Julia, Rangaswamy Dharshan, Bichet Daniel G

Abstract excerpt

Aquaporin-2 (AQP2) is a homotetrameric water channel responsible for the final water reuptake in the kidney. Disease-causing AQP2 mutations induce nephrogenic diabetes insipidus (NDI), a condition that challenges the bodily water balance by producing large urinary volumes. In this study, we characterize three new AQP2 mutations identified in our lab from NDI patients (A120D, A130V, T179N) along the previously...

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Identifiers

PMID: 34120413
DOI: 10.14814/phy2.14866
PMCID: PMC8198467

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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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