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Article

Novel variants in human Aquaporin-4 reduce cellular water permeability.

Human molecular genetics - 1 Aug 2008

Sorani Marco D, Zador Zsolt, Hurowitz Evan, Yan Donghong, Giacomini Kathleen M, Manley Geoffrey T

Abstract excerpt

Cerebral edema contributes significantly to morbidity and mortality after brain injury and stroke. Aquaporin-4 (AQP4), a water channel expressed in astrocytes, plays a key role in brain water homeostasis. Genetic variants in other aquaporin family members have been associated with disease phenotypes. However, in human AQP4, only one non-synonymous single-nucleotide polymorphism (nsSNP) has been reported, with no...

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Identifiers

PMID: 18511455
DOI: 10.1093/hmg/ddn138
PMCID: PMC2733814

Genes

AQP4

Variants

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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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