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Article

Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.

Blood cells, molecules & diseases - 1 Jan 2014

Shmukler Boris E, Vandorpe David H, Rivera Alicia, Auerbach Michael, Brugnara Carlo, Alper Seth L

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Topics

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Share to Anemia, Hemolytic, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23973043
DOI: 10.1016/j.bcmd.2013.07.015

Genes

PIEZO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.PMID 23973043Read ↗

Dehydrated hereditary stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panelSemantic proximity Read ↗

Hereditary dehydrated stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panelSemantic proximity Read ↗

Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.Semantic proximity Read ↗

PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.Semantic proximity Read ↗

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.Semantic proximity Read ↗

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.Semantic proximity Read ↗

The evolving landscape of hereditary stomatocytosisSemantic proximity Read ↗

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literatureSemantic proximity Read ↗

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosisSemantic proximity Read ↗

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood CellsSemantic proximity Read ↗

Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing.Semantic proximity Read ↗

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)Semantic proximity Read ↗

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