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Article

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

Blood - 30 Aug 2012

Zarychanski Ryan, Schulz Vincent P, Houston Brett L, Maksimova Yelena, Houston Donald S, Smith Brian, Rinehart Jesse, Gallagher Patrick G

Abstract excerpt

Hereditary xerocytosis (HX, MIM 194380) is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Copy number analyses, linkage studies, and exome sequencing were used to identify novel mutations affecting PIEZO1, encoded by the FAM38A gene, in 2 multigenerational HX kindreds. Segregation analyses confirmed transmission of the PIEZO1 mutations and cosegregation with the disease...

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Topics

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Share to Anemia, Hemolytic, Congenital
Share to Erythroid Cells

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hydrops Fetalis

Share to Ion Channels

Share to Mass Spectrometry

Share to Mechanotransduction, Cellular

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Source

Open in PubMed Open full text

Identifiers

PMID: 22529292
DOI: 10.1182/blood-2012-04-422253
PMCID: PMC3448561

Genes

PIEZO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.PMID 22529292Read ↗

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