ArticleThe Journal of clinical investigation2019
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
Article in The Journal of clinical investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 47 citations in OpenAlex.
- Review
- Vascular smooth muscle cell-derived KIF13B inhibits proinflammatory responses to protect against atherosclerosis.The Journal of clinical investigation · 2026Article
- Hypercholesterolemia-induced LXR signaling in smooth muscle cells contributes to vascular lesion remodeling and visceral function.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- SMC Abca1 and Abcg1 Deficiency Enhances Urinary Bladder Distension but Not Atherosclerosis.Circulation research · 2025Article
- Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter andFrontiers in pediatrics · 2025Article
- Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.European journal of human genetics : EJHG · 2025Article
- HumaneLife · 2024Article
- Coactivator condensation drives cardiovascular cell lineage specification.Science advances · 2024Article
- Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease.Nature genetics · 2024Article
- Transcription factor Tcf21 modulates urinary bladder size and differentiation.Development, growth & differentiation · 2024Article
- The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.Prenatal diagnosis · 2024Article
- PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.Nature communications · 2024Article
- Neurogenic Defects Occur inKidney international reports · 2023Article
- The term CAKUT has outlived its usefulness: the case for the prosecution.Pediatric nephrology (Berlin, Germany) · 2022Review
- Article
- Differential regulation of cranial and cardiac neural crest by serum response factor and its cofactors.eLife · 2022Article
- Expanding theFrontiers in genetics · 2022Article
- Modern management of and update on prune belly syndrome.Journal of pediatric urology · 2021Review
- Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.American journal of physiology. Gastrointestinal and liver physiology · 2021Review
- Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.American journal of medical genetics. Part A · 2020Article
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Authors and funding
25 authors at 8 institutions in 4 countries.
Funding
Abstract
Myocardin (MYOCD) is the founding member of a class of transcriptional coactivators that bind the serum-response factor to activate gene expression programs critical in smooth muscle (SM) and cardiac muscle development. Insights into the molecular functions of MYOCD have been obtained from cell culture studies, and to date, knowledge about in vivo roles of MYOCD comes exclusively from experimental animals. Here, we defined an often lethal congenital human disease associated with inheritance of pathogenic MYOCD variants. This disease manifested as a massively dilated urinary bladder, or megabladder, with disrupted SM in its wall. We provided evidence that monoallelic loss-of-function variants in MYOCD caused congenital megabladder in males only, whereas biallelic variants were associated with disease in both sexes, with a phenotype additionally involving the cardiovascular system. These results were supported by cosegregation of MYOCD variants with the phenotype in 4 unrelated families by in vitro transactivation studies in which pathogenic variants resulted in abrogated SM gene expression and by the finding of megabladder in 2 distinct mouse models with reduced Myocd activity. In conclusion, we have demonstrated that variants in MYOCD result in human disease, and the collective findings highlight a vital role for MYOCD in mammalian organogenesis.
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