ArticleBlood2012
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.
Article in Blood, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 263 papers.
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Who cites it
263 citing papers in PubMed, 441 citations in OpenAlex.
- Piezo1 in Peripheral and Central Sensitisation: Implications for Chronic Pain.Bioengineering (Basel, Switzerland) · 2026Review
- State-dependent binding of the wedge domain controls inactivation of the mechanosensitive ion channel PIEZO1.Nature communications · 2026Article
- An inherited hypomorphic variant in PIEZO2 reveals structural features of mechanotransduction.Neuron · 2026Article
- Piezo1 channel: structure, mechanogating mechanism, functions, diseases and therapeutic strategy.Molecular biomedicine · 2026Review
- Piezo1 Mechanotransduction in Skeletal Muscle: Convergence with Noncoding RNA Regulation in Myogenesis, Regeneration, and Sarcopenia.International journal of molecular sciences · 2026Review
- From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort.British journal of haematology · 2026Article
- Article
- Stretch, Piezo channels, and store operated calcium entry in developing human airway smooth muscle.Pediatric research · 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
- Mechanistic Consequences of Piezo1 Gain-of-Function Variants for Decreased Red Cell Survival in Hereditary Xerocytosis.American journal of hematology · 2026Article
- Structures of invertebrate PEZO-1 isoforms with a compact architecture and a dispensable pore-distal N-terminal blade.Cell reports · 2026Article
- Additive effect of multiple genetic variants inHemaSphere · 2026Article
- Targeting Piezo1/2 ion channels for modulation of the lymphatic system: mechanisms, applications, and therapeutic prospects.Burns & trauma · 2026Review
- Blood Mechanical Intelligence: From Force Sensing to Precision Mechanomedicine.Research (Washington, D.C.) · 2026Review
- PIEZO1 in Immune Cells: From Force to Function.Results and problems in cell differentiation · 2026Review
- Mechanotransduction mechanisms in human erythrocytes: Fundamental physiology and clinical significance.Channels (Austin, Tex.) · 2025Review
- Targeting PIEZO1-TMEM16F Coupling to Mitigate Sickle Cell Disease Complications.American journal of hematology · 2025Article
- [Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Article
- Kcnn4/KCa3.1 inhibition blunts polycystic kidney disease progression in mouse models.JCI insight · 2025Article
- Enhanced PIEZO1 function contributes to the pathogenesis of sickle cell disease.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
203 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Hereditary xerocytosis (HX, MIM 194380) is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Copy number analyses, linkage studies, and exome sequencing were used to identify novel mutations affecting PIEZO1, encoded by the FAM38A gene, in 2 multigenerational HX kindreds. Segregation analyses confirmed transmission of the PIEZO1 mutations and cosegregation with the disease phenotype in all affected persons in both kindreds. All patients were heterozygous for FAM38A mutations, except for 3 patients predicted to be homozygous by clinical and physiologic studies who were also homozygous at the DNA level. The FAM38A mutations were both in residues highly conserved across species and within members of the Piezo family of proteins. PIEZO proteins are the recently identified pore-forming subunits of channels that mediate mechanotransduction in mammalian cells. FAM38A transcripts were identified in human erythroid cell mRNA, and discovery proteomics identified PIEZO1 peptides in human erythrocyte membranes. These findings, the first report of mutation in a mammalian mechanosensory transduction channel-associated with genetic disease, suggest that PIEZO proteins play an important role in maintaining erythrocyte volume homeostasis.
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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.