ArticleAmerican journal of human genetics2011
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 109 citations in OpenAlex.
- Systemic Absorption of Cyclopentolate and Adverse Events After Retinopathy of Prematurity Exams.Current eye research · 2016Trial
- Case Report: Recurrent Complicated Urinary Tract Infection in Prune Belly Syndrome With Solitary Functioning Kidney.Clinical case reports · 2026Article
- A Case Report of a Syndromic Triad of Persistent Urogenital Sinus, Herlyn-Werner-Wunderlich Syndrome, and Prune Belly Syndrome in a Neonate.European journal of pediatric surgery reports · 2026Article
- Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.Science advances · 2025Article
- Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter andFrontiers in pediatrics · 2025Article
- HumaneLife · 2024Article
- Muscarinic control of cardiovascular function in humans: a review of current clinical evidence.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2024Review
- PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.Nature communications · 2024Article
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Intracellular signaling pathways of muscarinic acetylcholine receptor-mediated detrusor muscle contractions.American journal of physiology. Renal physiology · 2023Article
- Recessive CHRM5 variant as a potential cause of neurogenic bladder.American journal of medical genetics. Part A · 2023Article
- Dental treatment of patients with prune belly syndrome.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry · 2023Review
- Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.European urology open science · 2022Article
- The genetic basis of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2022Review
- Article
- Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Regulation of the Muscarinic MFrontiers in physiology · 2021Article
- The Urothelium: Life in a Liquid Environment.Physiological reviews · 2020Review
- Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.BMC medical genetics · 2020Article
- CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.American journal of human genetics · 2019Article
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Authors and funding
24 authors at 14 institutions in 4 countries.
Funding
Abstract
Urinary bladder malformations associated with bladder outlet obstruction are a frequent cause of progressive renal failure in children. We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. CHRM3 encodes the M3 muscarinic acetylcholine receptor, which we show is present in developing renal epithelia and bladder muscle. These observations may imply that M3 has a role beyond its known contribution to detrusor contractions. This Mendelian disease caused by a muscarinic acetylcholine receptor mutation strikingly phenocopies Chrm3 null mutant mice.
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