ArticleHuman mutation2011
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Article in Human mutation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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Who cites it
66 citing papers in PubMed, 117 citations in OpenAlex.
- A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2015Trial
- 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
- Enhancing RNA base editing on mammalian transcripts with small nuclear RNAs.Nature chemical biology · 2026Article
- Redirecting endogenous allies.Nature chemical biology · 2026Article
- Article
- Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.Neurology. Genetics · 2025Article
- Optimization of ACE-tRNAs function in translation for suppression of nonsense mutations.Nucleic acids research · 2024Article
- Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.Biomedicines · 2024Article
- 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
- Longitudinal Assessment of Creatine Kinase, Creatine/CreatinineNeurology · 2023Article
- SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.Human genomics · 2023Review
- Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI.Neurology · 2022Article
- Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne muscular dystrophy from MD STARnet.Muscle & nerve · 2022Article
- Characterizing Expiratory Respiratory Muscle Degeneration in Duchenne Muscular Dystrophy Using MRI.Chest · 2022Article
- Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.Neurology · 2022Observational
- RNA Targeting in Inherited Neuromuscular Disorders: Novel Therapeutic Strategies to Counteract Mis-Splicing.Cells · 2021Review
- Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption.Nucleic acids research · 2021Article
- Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.Journal of applied genetics · 2021Article
- Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.Neurology. Genetics · 2021Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors at 9 institutions in 1 country.
Funding
Abstract
Nonsense mutations are usually predicted to function as null alleles due to premature termination of protein translation. However, nonsense mutations in the DMD gene, encoding the dystrophin protein, have been associated with both the severe Duchenne Muscular Dystrophy (DMD) and milder Becker Muscular Dystrophy (BMD) phenotypes. In a large survey, we identified 243 unique nonsense mutations in the DMD gene, and for 210 of these we could establish definitive phenotypes. We analyzed the reading frame predicted by exons flanking those in which nonsense mutations were found, and present evidence that nonsense mutations resulting in BMD likely do so by inducing exon skipping, confirming that exonic point mutations affecting exon definition have played a significant role in determining phenotype. We present a new model based on the combination of exon definition and intronic splicing regulatory elements for the selective association of BMD nonsense mutations with a subset of DMD exons prone to mutation-induced exon skipping.
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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.