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

doi:10.1038/ncomms2899

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

Nature communications - 1 Jan 2013

Albuisson Juliette, Murthy Swetha E, Bandell Michael, Coste Bertrand, Louis-Dit-Picard Hélène, Mathur Jayanti, Fénéant-Thibault Madeleine, Tertian Gérard, de Jaureguiberry Jean-Pierre, Syfuss Pierre-Yves, Cahalan Stuart, Garçon Loic, Toutain Fabienne, Simon Rohrlich Pierre, Delaunay Jean, Picard Véronique, Jeunemaitre Xavier, Patapoutian Ardem

Abstract excerpt

Dehydrated hereditary stomatocytosis is a genetic condition with defective red blood cell membrane properties that causes an imbalance in intracellular cation concentrations. Recently, two missense mutations in the mechanically activated PIEZO1 (FAM38A) ion channel were associated with dehydrated hereditary stomatocytosis. However, it is not known how these mutations affect PIEZO1 function. Here, by combining...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia, Hemolytic, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Biomechanical Phenomena

Share to Hydrophobic and Hydrophilic Interactions

Share to Hydrops Fetalis

Share to Ion Channel Gating

Share to Ion Channels

Share to Kinetics

Share to Recombinant Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23695678
DOI: 10.1038/ncomms2899
PMCID: PMC3674779

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.PMID 23695678Read ↗

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

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

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

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

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

Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.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 splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing.Semantic proximity Read ↗

Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.Semantic proximity Read ↗

Recent advances in the pathophysiology of PIEZO1 ‐related hereditary xerocytosisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.