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Article

Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice.

Scientific reports - 4 Nov 2020

Baxter Sally L, Keenan William T, Athanas Argus J, Proudfoot James A, Zangwill Linda M, Ayyagari Radha, Liebmann Jeffrey M, Girkin Christopher A, Patapoutian Ardem, Weinreb Robert N

Abstract excerpt

Glaucoma disproportionately affects individuals of African descent. Prior studies of the PIEZO1 mechanoreceptor have suggested a possible role in glaucoma pathophysiology. Here, we investigated associations between a Piezo1 gain-of-function variant common in individuals of African descent with glaucoma-related phenotypes. We analyzed whole genome sequences to identify Piezo1 variants and their frequencies among...

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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: 33149214
DOI: 10.1038/s41598-020-76026-0
PMCID: PMC7643131

Provenance

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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