ArticleProceedings of the National Academy of Sciences of the United States of America2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis that pooled it.
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70citing papers in PubMed, 1 pooled it
5.7field-weighted citation impact, top 3% of its field
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Who cites it
70 citing papers in PubMed, 1 synthesis or guideline pooled it, 126 citations in OpenAlex.
- Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review.Pediatric surgery international · 2019Pooled it
- Loss of the Coronary Artery Disease Risk GeneCirculation · 2026Article
- Leiomodin 2 is a processive pointed-end elongator of actin filaments.Nature communications · 2026Article
- Mechanism of actin thin filament pointed-end elongation by leiomodin.Nature communications · 2026Article
- Population-Specific Genetic and Non-Genetic Influences on Sleep Traits and Health Outcomes.ArXiv · 2026Article
- Leiomodin 2 functions as a processive pointed-end elongator of actin filaments.bioRxiv : the preprint server for biology · 2026Article
- Coronary artery disease risk gene PRDM16 regulates smooth muscle homeostasis.Journal of molecular and cellular cardiology · 2026Article
- N-Terminal Actin-Binding Site of Lmod2 Promotes Controlled Pointed End Elongation.Circulation research · 2026Article
- Differential phenotypes in mice with smooth muscle-specific heterozygous versus homozygous deletion of Stk11.Scientific reports · 2025Article
- Identifying Predictive Biomarkers of Response in Patients With Rheumatoid Arthritis Treated With Adalimumab Using Machine Learning Analysis of Whole-Blood Transcriptomics Data.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
- Leiomodin 1 haploinsufficiency promotes smooth muscle cell proliferation and increases neointimal lesion size.Vascular pharmacology · 2025Article
- The HDL-Mimetic Peptide 4F Mitigates Vascular and Cortical Amyloid Pathology and Associated Neuroinflammation in a Transgenic Mouse Model of Cerebral Amyloid Angiopathy and Alzheimer's Disease.Molecular neurobiology · 2025Article
- Transcriptomic Differences Between Human Trabecular Meshwork Stem Cells and Trabecular Meshwork Cells Reveal Specific Biomarker Profiles.Current issues in molecular biology · 2025Article
- Prenatal Diagnosis of ACTG2-Related Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome-Case Report and Systematic Review.Journal of clinical medicine · 2025Review
- Exercise Induced Endothelial Mesenchymal Transition (EndMT) Facilitates Meniscal Fibrocartilage Regeneration.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Leiomodin 2 neonatal dilated cardiomyopathy mutation results in altered actin gene signatures and cardiomyocyte dysfunction.NPJ Regenerative medicine · 2024Article
- Cutting-edge regenerative therapy for Hirschsprung disease and its allied disorders.Surgery today · 2024Review
- A lmod1a mutation causes megacystis microcolon intestinal hypoperistalsis in a CRISPR/Cas9-modified zebrafish model.Pediatric surgery international · 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
10 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 7 institutions in 4 countries.
Danny HalimDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
Michael P WilsonAab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
Daniel OliverDepartment of Physiology and Cell Biology, University of Nevada School of Medicine, Reno, NV 89557.
Erwin BrosensDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
Joke B G M VerheijDepartment of Genetics, University Medical Center, University of Groningen, 9700 RB Groningen, The Netherlands.
Yu HanAab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
Vivek NandaAab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
Qing LyuAab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
Michael DoukasDepartment of Pathology, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
Hans StoopDepartment of Pathology, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
Rutger W W BrouwerCenter for Biomics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
Wilfred F J van IJckenCenter for Biomics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
Orazio J SlivanoAab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
Alan J BurnsDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
Christine K ChristieAab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
Karen L de Mesy BentleyDepartment of Pathology and Laboratory Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
Alice S BrooksDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
Dick TibboelDepartment of Pediatric Surgery, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
Suowen XuAab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
Zheng Gen JinAab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
Tono DjuwantonoDepartment of Obstetrics and Gynecology, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia.
Wei YanDepartment of Physiology and Cell Biology, University of Nevada School of Medicine, Reno, NV 89557.
Maria M AlvesDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
Robert M W HofstraDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; j.m.miano@rochester.edu r.hofstra@erasmusmc.nl.
Joseph M MianoAab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642; j.m.miano@rochester.edu r.hofstra@erasmusmc.nl.
Erasmus MC · NLUniversity of Rochester · USUniversity College London · GBUniversity of Nevada, Reno · USPadjadjaran University · IDUniversity Medical Center Groningen · NLUniversity of Groningen · NL
Funding
Single Cell Molecular ExpressionP30GM110767 · NIGMS · UNIVERSITY OF NEVADA RENO · PI SANDERS, KENTON M · 2014 to 2018
$5.4MRegulation of Vascular Smooth Muscle Cell Phenotype by a Novel Isoform of Glucose-6-Phosphate DehydrogenaseR01HL132574 · NHLBI · NEW YORK MEDICAL COLLEGE · PI GUPTE, SACHIN A, MIANO, JOSEPH M · 2017 to 2020
$2.5MRegulation and Function of AKAP12A in the Vessel WallR01HL112793 · NHLBI · UNIVERSITY OF ROCHESTER · PI FISHER, EDWARD A, MIANO, JOSEPH M · 2013 to 2016
$2.0MRegulation of Spermatogenesis by X-linked miRNAsR01HD060858 · NICHD · UNIVERSITY OF NEVADA RENO · PI MCCARREY, JOHN R, YAN, WEI · 2010 to 2014
$2.0MRegulation and Function of Myocardin in Vascular PathobiologyR01HL117907 · NHLBI · UNIVERSITY OF ROCHESTER · PI MIANO, JOSEPH M · 2013 to 2016
$1.5MMessenger RNA Fate Control in SpermatogenesisR01HD085506 · NICHD · UNIVERSITY OF NEVADA RENO · PI SANDERS, KENTON M · 2015 to 2019
$1.5MNHLBI NIH HHS R01 HL112793NHLBI NIH HHS R01 HL117907NHLBI NIH HHS R01 HL132574NICHD NIH HHS R01 HD060858NICHD NIH HHS R01 HD085506NIGMS NIH HHS P30 GM110767
Abstract
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and autosomal dominant mutations in actin gamma 2 (
Indexed as
Abnormalities, MultipleAnimalsAutoantigensCodon, NonsenseColonCytoskeletal ProteinsFemaleHumansInfant, NewbornIntestinal Pseudo-ObstructionMiceMuscle ContractionMuscle ProteinsMuscle, SmoothUrinary BladderAutoantigensCodon, NonsenseCytoskeletal Proteinsleiomodin protein, mouseLMOD1 protein, humanMuscle ProteinsCRISPR-Cas9geneticsLeiomodinmyopathysmooth muscle
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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.