ArticleNature communications2015
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 185 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
185 citing papers in PubMed, 1 synthesis or guideline pooled it, 303 citations in OpenAlex.
- Role of meningeal lymphatic vessels in brain homeostasis.Frontiers in immunology · 2025Pooled it
- Piezo1-mediated mechanotransduction in bone formation and fracture repair.Biochemistry and biophysics reports · 2026Review
- Piezo1 channel: structure, mechanogating mechanism, functions, diseases and therapeutic strategy.Molecular biomedicine · 2026Review
- A two-step clockwork mechanism opens a proteo-lipidic pore in PIEZO2.Nature chemical biology · 2026Article
- Serial failure of the brain clearance continuum in Alzheimer's disease: mechanisms and therapeutic perspectives.Journal of neurology · 2026Review
- Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.Research square · 2026Article
- Mechanoreceptor plexin D1 regulates lymphatic valve morphogenesis and lymphedema pathogenesis.The Journal of clinical investigation · 2026Article
- PIEZO1-mediated mechanosensation links aging to bladder dysfunction.bioRxiv : the preprint server for biology · 2026Article
- Yoda molecules agonize PIEZO2.bioRxiv : the preprint server for biology · 2026Article
- Stretch, Piezo channels, and store operated calcium entry in developing human airway smooth muscle.Pediatric research · 2026Article
- Compressive stress-driven Piezo1 activation and Rho-ROCK mechanotransduction promote tumor progression via epigenetic mechanical memory.Science advances · 2026Article
- Velocity sensitivity of mechanotransduction in the afferent terminal underlies vibration detection in the Pacinian corpuscle.Nature communications · 2026Article
- Deciphering gain-of-function from loss-of-function variants with AlphaMissense: A case study with the mechanosensitive PIEZO1 ion channel protein.Biochemistry and biophysics reports · 2026Article
- Piezo1 in intestinal smooth muscle cells: Emerging perspectives.The Journal of physiology · 2026Review
- PIEZO1 in Immune Cells: From Force to Function.Results and problems in cell differentiation · 2026Review
- Targeting Piezo1/2 ion channels for modulation of the lymphatic system: mechanisms, applications, and therapeutic prospects.Burns & trauma · 2026Review
- Single-particle tracking reveals heterogeneous PIEZO1 diffusion.Biophysical journal · 2025Article
- Regulation of the mechanoresponsive Neat1 and PSPC1 by substrate stiffness in TGF-β1-induced renal progenitor cell fate.Journal of biomedical science · 2025Article
- PIEZO Force Sensing in Vascular Biology: An Explosion of New Knowledge, Concepts and Opportunity.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Functional evidence for early origin of tactile acuity in the vertebrate somatosensory system.Current biology : CB · 2025Article
125 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 5 institutions in 1 country.
Funding
Abstract
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 discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients' erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.