ReviewHuman genetics2017
Normal and altered pre-mRNA processing in the DMD gene.
Review in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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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, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms.Human molecular genetics · 2023Pooled it
- Genetic strategies for therapy of Duchenne muscular dystrophy.Molecular therapy. Nucleic acids · 2025Review
- AAV microdystrophin gene replacement therapy for Duchenne muscular dystrophy: progress and prospects.Gene therapy · 2025Review
- Incidental finding of aFrontiers in pediatrics · 2025Article
- Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model.Skeletal muscle · 2024Article
- Splice modulation strategy applied to deep intronic variants inProceedings of the National Academy of Sciences of the United States of America · 2024Article
- A novel deep intronic variant introduceHeliyon · 2024Article
- Dystrophin- and Utrophin-Based Therapeutic Approaches for Treatment of Duchenne Muscular Dystrophy: A Comparative Review.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Review
- Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.Journal of medical genetics · 2023Article
- SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.Human genomics · 2023Review
- Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.Annals of neurology · 2022Article
- Histopathology of Duchenne muscular dystrophy in correlation with changes in proteomic biomarkers.Histology and histopathology · 2022Review
- RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing.HGG advances · 2022Article
- Complexity of skeletal muscle degeneration: multi-systems pathophysiology and organ crosstalk in dystrophinopathy.Pflugers Archiv : European journal of physiology · 2021Review
- A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2021Article
- Article
- Competing Endogenous RNA in Colorectal Cancer: An Analysis for Colon, Rectum, and Rectosigmoid Junction.Frontiers in oncology · 2021Article
- Theragnosis for Duchenne Muscular Dystrophy.Frontiers in pharmacology · 2021Article
- Complex Involvement of the Extracellular Matrix, Immune Effect, and Lipid Metabolism in the Development of Idiopathic Pulmonary Fibrosis.Frontiers in molecular biosciences · 2021Article
- EMQN best practice guidelines for genetic testing in dystrophinopathies.European journal of human genetics : EJHG · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression controlled by multiple post- and co-transcriptional mechanisms. The large Duchenne muscular dystrophy gene encoding the protein dystrophin provides a striking example of the complexity of human pre-mRNAs. In this review, we summarize the current state of knowledge about canonical and non-canonical splicing in the DMD pre-mRNA, with a focus on mechanisms that take place in the full-length transcript isoform expressed in human skeletal muscle. In particular, we highlight recent work demonstrating that multi-step events are required for long DMD intron removal. The role of temporary intron retention in the occurrence of alternative splicing events is also discussed. Even though the proportion of splicing mutations is lower than reported in other genes, a great diversity of splicing defects linked to point mutations, but also large genomic rearrangements are observed in the DMD gene. We provide an overview of the molecular mechanisms underlying aberrant splicing in patients with Duchenne or Becker muscular dystrophy, and we also detail how alternative splicing can serve as a disease modifier in patients by changing the outcome of the primary defect.
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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.