ArticleAmerican journal of human genetics1993
Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the 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.
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Who cites it
32 citing papers in PubMed, 93 citations in OpenAlex.
- Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy.Journal of clinical medicine · 2021Review
- Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.Human genetics · 2020Article
- Breakpoint junction features of seven DMD deletion mutations.Human genome variation · 2019Article
- DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy.Cardiology in the young · 2018Article
- Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.Muscle & nerve · 2018Review
- Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients.Molecular therapy : the journal of the American Society of Gene Therapy · 2014Article
- Exon skipping restores dystrophin expression, but fails to prevent disease progression in later stage dystrophic dko mice.Gene therapy · 2014Article
- Antisense suppression of donor splice site mutations in the dystrophin gene transcript.Molecular genetics & genomic medicine · 2013Article
- Mutation types and aging differently affect revertant fiber expansion in dystrophic mdx and mdx52 mice.PloS one · 2013Article
- Long-term rescue of dystrophin expression and improvement in muscle pathology and function in dystrophic mdx mice by peptide-conjugated morpholino.The American journal of pathology · 2012Article
- Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through.The American journal of pathology · 2011Review
- Therapeutic approaches to muscular dystrophy.Human molecular genetics · 2011Review
- One-year treatment of morpholino antisense oligomer improves skeletal and cardiac muscle functions in dystrophic mdx mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2011Article
- Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents.The application of clinical genetics · 2011Article
- The pathobiology of splicing.The Journal of pathology · 2010Review
- Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping.Molecular therapy : the journal of the American Society of Gene Therapy · 2010Article
- Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening.PloS one · 2009Article
- Emerging strategies for cell and gene therapy of the muscular dystrophies.Expert reviews in molecular medicine · 2009Review
- Octa-guanidine morpholino restores dystrophin expression in cardiac and skeletal muscles and ameliorates pathology in dystrophic mdx mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2009Article
- Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although many Duchenne muscular dystrophy patients have a deletion in the dystrophin gene which disrupts the translational reading frame, they express dystrophin in a small proportion of skeletal muscle fibers ("revertant fibers"). Antibody studies have shown, indirectly, that dystrophin synthesis in revertant fibers is facilitated by a frame-restoring mechanism; in the present study, the feasibility of mRNA splicing was investigated. Dystrophin transcripts were analyzed in skeletal muscle from individuals possessing revertant fibers and a frameshift deletion in the dystrophin gene. In each case a minor in-frame transcript was detected, in which exons adjacent to those deleted from the genome had been skipped. There appeared to be some correlation between the levels of in-frame transcripts and the predicted translation products. Low levels of alternatively spliced transcripts were also present in normal muscle. The results provide further evidence of exon skipping in the dystrophin gene and indicate that this may be involved in the synthesis of dystrophin by revertant fibers.
Indexed as
Identifiers
8213828PMC1682309W1544237091What OpenQuestion holds
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.