ArticleCirculation. Cardiovascular genetics2014
A point mutation in Myh10 causes major defects in heart development and body wall closure.
Article in Circulation. Cardiovascular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT00083499 (Mutations in Genes Associated With Pentalogy of Cantrell), which is not on this map. Cited by 32 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Mutations in Genes Associated With Pentalogy of Cantrell
Who cites it
32 citing papers in PubMed, 44 citations in OpenAlex.
- Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases.Veterinary sciences · 2026Review
- Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Review
- myh9b is a critical non-muscle myosin II encoding gene that interacts with myh9a and myh10 during zebrafish development in both compensatory and redundant pathways.G3 (Bethesda, Md.) · 2025Article
- The earliest impact of restricted protein intake during pregnancy on heart development in male mouse offspring.Frontiers in cell and developmental biology · 2025Article
- The Improved-EFI Score: A Multi-Omics-Based Novel Efficacy Predictive Tool for Predicting the Natural Fertility of Endometriosis Patients.International journal of general medicine · 2025Article
- Deficiency in Prader-Willi syndrome geneiScience · 2024Article
- MEK1-ERK1/2 signaling regulates the cardiomyocyte non-sarcomeric actin cytoskeletal network.American journal of physiology. Heart and circulatory physiology · 2024Article
- SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics.Biochemical Society transactions · 2023Article
- Omphalocele and Cardiac Abnormalities-The Importance of the Association.Diagnostics (Basel, Switzerland) · 2023Review
- Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- MYH10 Governs Adipocyte Function and Adipogenesis through Its Interaction with GLUT4.International journal of molecular sciences · 2022Article
- Analysis of lncRNA in the skeletal muscle of rabbits at different developmental stages.Frontiers in veterinary science · 2022Article
- Fetal nuchal edema and developmental anomalies caused by gene mutations in mice.Frontiers in cell and developmental biology · 2022Review
- In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events.Human molecular genetics · 2021Article
- Endocytic Protein Defects in the Neural Crest Cell Lineage and Its Pathway Are Associated with Congenital Heart Defects.International journal of molecular sciences · 2021Review
- Caldesmon ablation in mice causes umbilical herniation and alters contractility of fetal urinary bladder smooth muscle.The Journal of general physiology · 2021Article
- Genetics of Transposition of Great Arteries: Between Laterality Abnormality and Outflow Tract Defect.Journal of cardiovascular translational research · 2021Review
- Mutations in non-muscle myosin 2A disrupt the actomyosin cytoskeleton in Sertoli cells and cause male infertility.Developmental biology · 2021Article
- Cellular defects resulting from disease-related myosin II mutations inProceedings of the National Academy of Sciences of the United States of America · 2019Article
- Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.Brain : a journal of neurology · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe 3 isoforms of nonmuscle myosin (NM) II (NMII-A, NMII-B, and NMII-C) play various roles during mouse embryonic development. Previous work, using knockout and hypomorphic mice, showed that Myh10 encoding myosin heavy chain II-B is critical for cardiac and brain development. Ablating or decreasing NMII-B by 80% results in cardiac (ventricular septal defect, double outlet of the right ventricle) and brain defects but not midline fusion defects. Neither NMII-A nor II-C seems to play roles in early myocardial development. METHODS AND
resultsWe had previously generated point mutant knock-in mice and now report novel findings as a result of expressing motor-deficient NMII-B at wild-type levels. Homozygous mice die at embryonic day 14.5 in cardiac failure, exhibiting abnormalities not seen in NMII-B null and hypomorphic mice: a failure in midline fusion resulting in a cleft palate, ectopia cordis, and a large omphalocele. Fusion of the sternum and endocardial cushions is impaired in the mutant mice associated with a failure in apoptosis of the mesenchymal cells. Failure to disassemble myocyte cell-cell adhesions during cardiac outflow tract development contributes to impaired outflow tract myocardialization and displacement of the aorta to the right ventricle.
conclusionsExpression of motor-impaired NMII-B disrupts normal ventral body wall closure because of a dominant-negative effect. This is not because of the loss of NMII-B function but rather a gain-of-function resulting from prolonged cross-linking of NMII-B to actin filaments, thereby interfering with the dynamics of actomyosin cytoskeletal structure. Furthermore, impaired NMII-B motor activity inhibits outflow tract myocardialization, leading to mislocalization of the aorta.
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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.