ReviewAmerican journal of physiology. Gastrointestinal and liver physiology2021
Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
Review in American journal of physiology. Gastrointestinal and liver physiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 52 citations in OpenAlex.
- Resolving cell lineages and gene functions in the developing mouse gastrointestinal tract using in utero transduction.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Long-Term Outcomes and Clinical Course of Pediatric Intestinal Pseudo-Obstruction: A Retrospective Single-Center Cohort Study.Journal of clinical medicine · 2026Article
- Unmasking the "Braided" Bowel: Chronic Intestinal Pseudo-Obstruction-A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Article
- International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease.Neurogastroenterology and motility · 2026Review
- Structural and functional gastrointestinal abnormalities in ACTA2 R179H mice modeling multisystemic smooth muscle dysfunction syndrome.JCI insight · 2026Article
- Familial adult-onset chronic idiopathic megacolon: diagnostic and surgical challenges-a case report.Journal of surgical case reports · 2026Article
- Differential phenotypes in mice with smooth muscle-specific heterozygous versus homozygous deletion of Stk11.Scientific reports · 2025Article
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 2025Article
- Gastrointestinal malrotation and chronic intestinal pseudo-obstruction in two pediatric patients with Baraitser-Winter cerebrofrontofacial syndrome.JPGN reports · 2025Article
- Rapid cyclic stretching of cultured human visceral smooth muscle cells promotes a synthetic, proinflammatory phenotype.JCI insight · 2025Article
- Infrequent, but Not Intricate Radiological and Pathological Diagnosis of Chronic Intestinal Pseudo-Obstruction-Presented in a Two Pediatrics Cases of the Visceral Myopathy.Diagnostics (Basel, Switzerland) · 2025Article
- Generation of a novel constitutive smooth muscle cell-specific Myh11-driven Cre mouse model.Journal of molecular and cellular cardiology · 2025Article
- 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
- Conditional deletion of IPJournal of gastroenterology · 2025Article
- New mechanism of LncRNA: In addition to act as a ceRNA.Non-coding RNA research · 2024Review
- Rapid cyclic stretching induces a synthetic, proinflammatory phenotype in cultured human intestinal smooth muscle, with the potential to alter signaling to adjacent bowel cells.bioRxiv : the preprint server for biology · 2024Article
- Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.Clinical journal of gastroenterology · 2024Review
- Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.Science advances · 2024Article
- Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report of an Uncommon Condition.Cureus · 2024Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Visceral smooth muscle is a crucial component of the walls of hollow organs like the gut, bladder, and uterus. This specialized smooth muscle has unique properties that distinguish it from other muscle types and facilitate robust dilation and contraction. Visceral myopathies are diseases where severe visceral smooth muscle dysfunction prevents efficient movement of air and nutrients through the bowel, impairs bladder emptying, and affects normal uterine contraction and relaxation, particularly during pregnancy. Disease severity exists along a spectrum. The most debilitating defects cause highly dysfunctional bowel, reduced intrauterine colon growth (microcolon), and bladder-emptying defects requiring catheterization, a condition called megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). People with MMIHS often die early in childhood. When the bowel is the main organ affected and microcolon is absent, the condition is known as myopathic chronic intestinal pseudo-obstruction (CIPO). Visceral myopathies like MMIHS and myopathic CIPO are most commonly caused by mutations in contractile apparatus cytoskeletal proteins. Here, we review visceral myopathy-causing mutations and normal functions of these disease-associated proteins. We propose molecular, cellular, and tissue-level models that may explain clinical and histopathological features of visceral myopathy and hope these observations prompt new mechanistic studies.
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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.