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Article

Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.

Biochemistry - 7 Aug 2012

Inada Hitoshi, Procko Erik, Sotomayor Marcos, Gaudet Rachelle

Abstract excerpt

The TRPV4 calcium-permeable cation channel plays important physiological roles in osmosensation, mechanosensation, cell barrier formation, and bone homeostasis. Recent studies reported that mutations in TRPV4, including some in its ankyrin repeat domain (ARD), are associated with human inherited diseases, including neuropathies and skeletal dysplasias, probably because of the increased constitutive activity of...

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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: 22702953
DOI: 10.1021/bi300279b
PMCID: PMC3413242

Genes

TRPV4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.PMID 22702953Read ↗

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