ArticleNature communications2024
PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- Yoda molecules agonize PIEZO2.bioRxiv : the preprint server for biology · 2026Article
- PIEZO1 variants that reduce open channel probability are associated with familial osteoarthritis.The Journal of biological chemistry · 2026Article
- Piezo1 in intestinal smooth muscle cells: Emerging perspectives.The Journal of physiology · 2026Review
- PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue.iScience · 2025Article
- Mechanical stretch promotes sustained proliferation and inflammation in developing human airway smooth muscle.American journal of physiology. Lung cellular and molecular physiology · 2025Article
- Review
- The association between the intensity of physical activity and the risk of sarcopenia in adolescents: NHANES 2011-2018.BMC pediatrics · 2025Article
- Ectopic mouse TMC1 and TMC2 alone form mechanosensitive channels that are potently modulated by TMIE.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Effects of aging on calcium channels in skeletal muscle.Frontiers in molecular biosciences · 2025Review
- Piezo1-related physiological and pathological processes in glioblastoma.Frontiers in cell and developmental biology · 2025Review
- Case Report: A rare case of prune belly syndrome with intraperitoneal cryptorchidism.Frontiers in pediatrics · 2025Article
- Mechanosensitive channel Piezo1 in calcium dynamics: structure, function, and emerging therapeutic strategies.Frontiers in molecular biosciences · 2025Review
- Unique Dental and Craniofacial Manifestations of Hypoplastic Amelogenesis Imperfecta in a Patient With Prune Belly Syndrome: A Rare Case Report.Case reports in dentistry · 2025Article
- Pharmacology of PIEZO1 channels.British journal of pharmacology · 2024Review
- Mechanisms of mechanotransduction and physiological roles of PIEZO channels.Nature reviews. Molecular cell biology · 2024Review
- RERconverge Expansion: Using Relative Evolutionary Rates to Study Complex Categorical Trait Evolution.Molecular biology and evolution · 2024Article
- Piezo ion channels: long-sought-after mechanosensors mediating hypertension and hypertensive nephropathy.Hypertension research : official journal of the Japanese Society of Hypertension · 2024Review
- The role of mechanically sensitive ion channel Piezo1 in bone remodeling.Frontiers in bioengineering and biotechnology · 2024Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Prune belly syndrome (PBS), also known as Eagle-Barret syndrome, is a rare, multi-system congenital myopathy primarily affecting males. Phenotypically, PBS cases manifest three cardinal pathological features: urinary tract dilation with poorly contractile smooth muscle, wrinkled flaccid ventral abdominal wall with skeletal muscle deficiency, and intra-abdominal undescended testes. Genetically, PBS is poorly understood. After performing whole exome sequencing in PBS patients, we identify one compound heterozygous variant in the PIEZO1 gene. PIEZO1 is a cation-selective channel activated by various mechanical forces and widely expressed throughout the lower urinary tract. Here we conduct an extensive functional analysis of the PIEZO1 PBS variants that reveal loss-of-function characteristics in the pressure-induced normalized open probability (NPo) of the channel, while no change is observed in single-channel currents. Furthermore, Yoda1, a PIEZO1 activator, can rescue the NPo defect of the PBS mutant channels. Thus, PIEZO1 mutations may be causal for PBS and the in vitro cellular pathophysiological phenotype could be rescued by the small molecule, Yoda1. Activation of PIEZO1 might provide a promising means of treating PBS and other related bladder dysfunctional states.
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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.