ArticleAmerican journal of human genetics2016
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.Journal of neuromuscular diseases · 2024Pooled it
- Serum biomarkers associated with baseline clinical severity in young steroid-naïve Duchenne muscular dystrophy boys.Human molecular genetics · 2020Trial
- Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy.Neurology · 2020Trial
- Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy.European journal of human genetics : EJHG · 2026Article
- CD146 + interstitial cells contribute to the dystrophic skeletal muscle phenotype in vitro.Scientific reports · 2026Article
- Statistical Genetics ofGenes · 2025Article
- From fibro/adipogenic progenitors to adipocytes: Understanding adipogenesis in muscle degeneration for disease modulation.The Journal of physiology · 2025Review
- Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations.Journal of neurology · 2025Observational
- The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.Journal of neuromuscular diseases · 2024Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.Journal of neuromuscular diseases · 2024Article
- Association between neurodevelopmental impairments and motor function in Duchenne muscular dystrophy.Annals of clinical and translational neurology · 2023Article
- Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?Nature reviews. Neurology · 2023Review
- A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.European journal of human genetics : EJHG · 2023Article
- Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.Frontiers in genetics · 2023Article
- Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions.Journal of neuromuscular diseases · 2023Review
- Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy.Journal of neuromuscular diseases · 2023Article
- Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI.Neurology · 2022Article
- Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy.NPJ Regenerative medicine · 2022Article
- Genetic modifiers of upper limb function in Duchenne muscular dystrophy.Journal of neurology · 2022Article
Corrections and comments
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Authors and funding
23 authors at 19 institutions in 8 countries.
Funding
Abstract
The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression. This suggests the existence of trans-acting variants in modifier genes. Common single nucleotide polymorphisms (SNPs) in candidate genes (SPP1, encoding osteopontin, and LTBP4, encoding latent transforming growth factor β [TGFβ]-binding protein 4) have been established as DMD modifiers. We performed a genome-wide association study of age at LoA in a sub-cohort of European or European American ancestry (n = 109) from the Cooperative International Research Group Duchenne Natural History Study (CINRG-DNHS). We focused on protein-altering variants (Exome Chip) and included glucocorticoid treatment as a covariate. As expected, due to the small population size, no SNPs displayed an exome-wide significant p value (< 1.8 × 10
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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.