ArticleHuman molecular genetics2017
Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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.
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Who cites it
31 citing papers in PubMed, 47 citations in OpenAlex.
- Deficiency of muscular dystrophy-related gene JAG2 causes NOTCH signaling dysfunction in muscle stem cells.The Journal of clinical investigation · 2026Article
- Notch is a ligand of Draper mediating spermatogonia cell death.Nature communications · 2026Article
- Comparative Analysis of the Transcriptome of the Chicken Breast Muscle at Different Developmental Stages.Animals : an open access journal from MDPI · 2026Article
- The role of MEGF10 in myoblast fusion and hypertrophic response to overload of skeletal muscle.Journal of muscle research and cell motility · 2025Article
- Genetic disruption of satellite cell function underlying congenital myopathies.Journal of human genetics · 2025Review
- The role of theERJ open research · 2025Article
- Article
- Cellular and molecular alterations to muscles and neuromuscular synapses in a mouse model of MEGF10-related myopathy.Skeletal muscle · 2024Article
- Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche.Molecular therapy. Nucleic acids · 2023Article
- The emergence of the stem cell niche.Trends in cell biology · 2023Review
- Surfaceome Profiling of Cell Lines and Patient-Derived Xenografts Confirm FGFR4, NCAM1, CD276, and Highlight AGRL2, JAM3, and L1CAM as Surface Targets for Rhabdomyosarcoma.International journal of molecular sciences · 2023Article
- The Notch signaling pathway in skeletal muscle health and disease.Muscle & nerve · 2022Review
- Involvement of phosphatidylserine receptors in the skeletal muscle regeneration: therapeutic implications.Journal of cachexia, sarcopenia and muscle · 2022Review
- The Notch signaling network in muscle stem cells during development, homeostasis, and disease.Skeletal muscle · 2022Review
- Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.Experimental cell research · 2022Article
- Implications of notch signaling in duchenne muscular dystrophy.Frontiers in physiology · 2022Review
- Congenital myopathy associated with a novel mutation inActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2022Article
- Current Thoughts of Notch's Role in Myoblast Regulation and Muscle-Associated Disease.International journal of environmental research and public health · 2021Review
- Phenotypic Variability ofGenes · 2021Article
- Genome Structural Variation Landscape and Its Selection Signatures in the Fast-growing Strains of the Pacific Oyster, Crassostrea gigas.Marine biotechnology (New York, N.Y.) · 2021Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Mutations in MEGF10 cause early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD), a rare congenital muscle disease, but the pathogenic mechanisms remain largely unknown. We demonstrate that short hairpin RNA (shRNA)-mediated knockdown of Megf10, as well as overexpression of the pathogenic human p.C774R mutation, leads to impaired proliferation and migration of C2C12 cells. Myoblasts from Megf10-/- mice and Megf10-/-/mdx double knockout (dko) mice also show impaired proliferation and migration compared to myoblasts from wild type and mdx mice, whereas the dko mice show histological abnormalities that are not observed in either single mutant mouse. Cell proliferation and migration are known to be regulated by the Notch receptor, which plays an essential role in myogenesis. Reciprocal co-immunoprecipitation studies show that Megf10 and Notch1 interact via their respective intracellular domains. These interactions are impaired by the pathogenic p.C774R mutation. Megf10 regulation of myoblast function appears to be mediated at least in part via interactions with key components of the Notch signaling pathway, and defects in these interactions may contribute to the pathogenesis of EMARDD.
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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.