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Article

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

Haematologica - 1 Mar 2018

Andolfo Immacolata, Manna Francesco, De Rosa Gianluca, Rosato Barbara Eleni, Gambale Antonella, Tomaiuolo Giovanna, Carciati Antonio, Marra Roberta, De Franceschi Lucia, Iolascon Achille, Russo Roberta

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Share to Anemia, Hemolytic, Congenital
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Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hydrops Fetalis

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Identifiers

PMID: 29191841
DOI: 10.3324/haematol.2017.180687
PMCID: PMC5830381

Genes

PIEZO1

Variants

Provenance

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

Related research

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PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.PMID 29191841Read ↗

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

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

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

Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis).Semantic proximity Read ↗

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

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

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

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.Semantic proximity Read ↗

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

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 ↗

PIEZO1 variant implications for biological understanding and human healthSemantic proximity Read ↗

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