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Article

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.

Nature communications - 21 Sept 2015

Lukacs Viktor, Mathur Jayanti, Mao Rong, Bayrak-Toydemir Pinar, Procter Melinda, Cahalan Stuart M, Kim Helen J, Bandell Michael, Longo Nicola, Day Ronald W, Stevenson David A, Patapoutian Ardem, Krock Bryan L

Abstract excerpt

Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we...

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Share to Anemia, Hemolytic, Congenital
Share to Erythrocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Hydrops Fetalis

Share to Ion Channels

Share to Lymphatic Diseases

Share to Mutation, Missense

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Source

Open in PubMed Open full text

Identifiers

PMID: 26387913
DOI: 10.1038/ncomms9329
PMCID: PMC4578306

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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Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.PMID 26387913Read ↗

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