ArticleAmerican journal of human genetics1991
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.
Article in American journal of human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 165 citations in OpenAlex.
- Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy.The application of clinical genetics · 2025Article
- Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.Biomedicines · 2024Article
- A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center.Frontiers in neurology · 2020Article
- Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System.International journal of molecular sciences · 2018Article
- Article
- HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab.Histochemistry and cell biology · 2016Article
- Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.PloS one · 2016Article
- Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.Human genetics · 2015Article
- A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.Journal of human genetics · 2014Article
- MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.BMC medical genetics · 2013Article
- Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.BMC medical genetics · 2011Article
- Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.Human mutation · 2011Article
- Clinical and genetic characterization of manifesting carriers of DMD mutations.Neuromuscular disorders : NMD · 2010Article
- Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Human mutation · 2009Article
- Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons.Journal of human genetics · 2007Article
- The role of polymorphic short tandem (CA)n repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2005Article
- Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene.Journal of medical genetics · 2000Article
- Local and distant transfection of mdx muscle fibers with dystrophin and LacZ genes delivered in vivo by synthetic microspheres.Gene therapy · 1999Article
- Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.Journal of medical genetics · 1996Article
- The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test.American journal of human genetics · 1995Article
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
Using 10 overlapping nested sets of primers and using peripheral blood lymphocyte (PBL) total RNA as template, we have developed a system, based on PCR, which allows the rapid production of double-stranded cDNA corresponding to the entire coding sequence of the dystrophin gene. The product can be visualized on native minigels by ethidium staining and directly sequenced after gel purification. We have used this system to analyze the structures of PBL dystrophin mRNA in 26 Duchenne, Becker, or intermediate muscular dystrophy patients who have gross rearrangements of the dystrophin gene. In each case, the effect that the genomic rearrangement has on the structure of the transcript--and, by inference, on the dystrophin protein--has been determined, and the results confirm the frameshift hypothesis. The study also identifies a series of alternatively spliced transcripts which are specific to the rearranged genotypes and which seem therefore to arise following the alteration in the context of the splice signal. The system has been used for unambiguous identification of carrier females. Furthermore, the rapid production of microgram quantities of dystrophin cDNA from a readily accessible tissue makes point-mutation screening a practical proposition.
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Identifiers
1867192PMC1683309W1847123514What 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.