Affinage

DMD

Dystrophin · UniProt P11532

Length
3685 aa
Mass
426.8 kDa
Annotated
2026-06-09
100 papers in source corpus 20 papers cited in narrative 20 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

The DMD gene encodes dystrophin, a cytoskeletal protein required for sarcolemmal stability whose loss underlies Duchenne and Becker muscular dystrophy (PMID:2491010, PMID:31039133). Frame-disrupting mutations follow a reading-frame rule in which frameshift deletions cause severe Duchenne phenotypes while in-frame deletions cause milder Becker disease (PMID:2491010), and residual dystrophin levels quantitatively track clinical severity, with 0–5% conferring Duchenne, ~10% Becker, and ~15% only myalgia (PMID:33977140). The functional competence of the full-length human locus is established by transgenic rescue of the lethal mdx × utrophin-null dystrophic phenotype (PMID:18083704). At the membrane, dystrophin acts with sarcospan and utrophin to maintain glycosylated α-dystroglycan and sarcolemmal integrity, the primary defect in DMD, with sarcospan overexpression restoring cardiac stability and contractile function in dystrophin-deficient hearts (PMID:31039133). The exceptionally large DMD pre-mRNA undergoes multi-step recursive, co-transcriptional splicing in which intronic enhancers recruit FUBP1 to promote exon recognition while hnRNPA1, hnRNPA2/B1 and DAZAP1 act as splicing repressors (PMID:25662218), and splicing outcomes — including point-mutation-induced exon skipping and endogenous multiple-exon-skipping that generates circular RNAs — serve as disease modifiers (PMID:23536893, PMID:27754374). Beyond splicing, dystrophin expression is regulated transcriptionally and epigenetically: premature termination codons reduce nascent transcription rather than triggering cytoplasmic NMD, accompanied by repressive H3K9me3 deposition at the locus that is relieved by HDAC inhibition (PMID:32616572). Internal promoters generate shorter isoforms with distinct roles, including Dp71, which drives sarcoma cell proliferation through G2/M cell cycle progression (PMID:31266185). Dystrophin deficiency also has non-myofiber consequences: cardiomyocyte-secreted exosomal miRNA cargo propagates pathological stress signaling via p53 and TGF-β pathways (PMID:33188007), cardiac fibroblasts lose actin microfilaments and undergo a glycolytic, pro-fibrotic metabolic switch (PMID:37501163), and muscle stem cells acquire early senescence with expansion of fibro-adipogenic progenitors (PMID:37858263).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1989 High

    Established the genotype-phenotype logic of DMD by showing that whether a deletion preserves the translational reading frame, not its size, determines disease severity.

    Evidence Genomic deletion mapping with cDNA probes correlated to clinical phenotype in 80 patients

    PMID:2491010

    Open questions at the time
    • Does not explain exceptions where in-frame mutations cause severe disease
    • No molecular mechanism for how truncated protein retains partial function
  2. 2007 Medium

    Resolved the mutational origin of DMD duplications, showing they cluster at the 5' end and arise by synthesis-dependent nonhomologous end joining rather than unequal sister chromatid exchange.

    Evidence MLPA and breakpoint sequencing of 118 DMD duplications

    PMID:16917894

    Open questions at the time
    • Single-study cohort
    • Does not link breakpoint mechanism to phenotypic outcome
  3. 2007 High

    Demonstrated that the full-length human DMD genomic locus is functionally competent in vivo, rescuing the lethal dystrophic phenotype and providing a humanized model.

    Evidence Full-length hDMD transgenic mouse, genetic rescue of mdx × Utrn-/- mice with RT-PCR, Western blot, histology

    PMID:18083704

    Open questions at the time
    • Does not dissect individual isoform contributions to rescue
    • No quantitative threshold for rescue established
  4. 2009 Medium

    Revealed exceptions to the reading-frame rule by showing that exon-skipping within duplications can restore frame and that in-frame duplications can still cause disease through post-transcriptional mechanisms.

    Evidence RT-PCR RNA analysis of duplicated DMD transcripts in 16 patients

    PMID:18853462

    Open questions at the time
    • Small patient number
    • Post-transcriptional mechanism for in-frame duplication pathogenicity not defined
  5. 2013 Medium

    Identified transcript stability and splicing-regulatory point mutations as quantitative determinants of dystrophin levels beyond simple frame prediction.

    Evidence RT-PCR, Western blot, exon-skipping in mdx/patients; RNA and bioinformatic splicing analysis of 98 point-mutation patients

    PMID:23536893 PMID:23975932

    Open questions at the time
    • Mechanism controlling transcript stability not identified
    • Splicing predictions not validated for all mutation classes
  6. 2015 High

    Defined the protein machinery of DMD pre-mRNA splicing, identifying FUBP1 as an intronic-enhancer-bound activator of exon recognition antagonized by hnRNP repressors.

    Evidence RNase-assisted pulldown-MS, minigene assays, RNA EMSA, RNA-ChIP, mutagenesis on endogenous DMD pre-mRNA

    PMID:25662218

    Open questions at the time
    • Studied at a single exon (exon 39); generality across the transcript unknown
    • How these factors are deployed across recursive splicing not addressed
  7. 2016 Medium

    Showed that endogenous multiple-exon-skipping and back-splicing generate circular RNAs from the DMD transcript, revealing complexity in normal DMD processing.

    Evidence RT-PCR and sequencing of MES products and circRNAs from normal human skeletal muscle

    PMID:27754374

    Open questions at the time
    • Function of DMD circRNAs unknown
    • Single-tissue analysis
  8. 2020 High

    Overturned the assumption that nonsense mutations act only via cytoplasmic NMD, showing instead a transcriptional/epigenetic mechanism marked by H3K9me3 that is pharmacologically reversible.

    Evidence NMD inhibition, in situ hybridization, nascent RNA-seq, H3K9me3 ChIP, givinostat treatment in mdx mice

    PMID:32616572

    Open questions at the time
    • Mechanism linking PTC to chromatin repression not defined
    • Whether givinostat-induced transcript yields functional protein not shown
  9. 2021 Medium

    Quantified the dystrophin-level thresholds separating Duchenne, Becker, and asymptomatic-myalgia phenotypes, and showed deep-intronic variants cause disease via splice-altering NMD.

    Evidence Whole-genome sequencing, muscle RNA-seq, cDNA PCR, quantitative Western blot across families

    PMID:33977140

    Open questions at the time
    • Thresholds derived from limited families
    • Does not address tissue-specific level requirements
  10. 2019 Medium

    Established roles for dystrophin and its isoforms beyond myofiber structure, including Dp71-driven sarcoma proliferation, exosomal miRNA-mediated cardiac stress signaling, and sarcospan-dependent sarcolemmal stabilization.

    Evidence shRNA Dp71 knockdown with cell-cycle/RNA-seq analysis; iPSC-cardiomyocyte exosome and miRNA profiling with in vivo inhibition; SSPN transgenic mdx cardiac functional analysis

    PMID:31039133 PMID:31266185 PMID:33188007

    Open questions at the time
    • Dp71 cell-cycle mechanism molecularly undefined
    • Specific causal exosomal miRNAs not pinpointed
    • Sarcospan findings are overexpression-based
  11. 2023 Medium

    Extended DMD pathology to non-myofiber cell types, showing dystrophin loss drives cardiac fibroblast metabolic reprogramming/fibrosis and muscle stem-cell senescence with FAP expansion.

    Evidence hiPSC-derived cardiac fibroblast cytoskeletal/metabolic assays; myopathologic and immunostaining analysis of 24 patient muscle biopsies

    PMID:37501163 PMID:37858263

    Open questions at the time
    • Causal link between actin loss and glycolytic switch not mechanistically resolved
    • Senescence trigger in stem cells unidentified
    • Single-lab patient cohorts

Open questions

Synthesis pass · forward-looking unresolved questions
  • How dystrophin isoform-specific functions, recursive co-transcriptional splicing, epigenetic repression, and non-myofiber pathology integrate into a unified disease mechanism remains unresolved.
  • No structural model of dystrophin in the sarcolemmal complex from the corpus
  • Molecular partners of short isoforms in non-muscle cells unmapped
  • Whether transcript-level interventions restore functional protein at disease thresholds untested

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 2 GO:0008092 cytoskeletal protein binding 2
Localization
GO:0005886 plasma membrane 2 GO:0005856 cytoskeleton 1
Partners
DAZAP1FUBP1HNRNPA1HNRNPA2B1SSPNUTRN
Complex memberships
dystrophin-glycoprotein complex

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1989 Frameshift deletions in the DMD gene result in more severe (Duchenne) phenotype than in-frame deletions, which result in milder (Becker) phenotype. This 'reading frame rule' was established by correlating deletion endpoints (determined by genomic probes) with clinical phenotype in 80 unrelated patients. Genomic deletion mapping with cDNA probes and clinical phenotype correlation in 80 patients American journal of human genetics High 2491010
2004 The H19 differentially methylated domain (DMD) acts as a maternal-specific, methylation-sensitive insulator by binding CTCF on the maternal allele. CpG mutations in the DMD repeats that retain CTCF-binding and enhancer-blocking activity disrupted maintenance of paternal DMD methylation in vivo, demonstrating that CpG content of the repeats is required for methylation maintenance but is antagonistic to insulator assembly. NOTE: This paper concerns the H19-Igf2 imprinting control region DMD (differentially methylated domain), not the dystrophin protein-coding DMD gene. CpG point mutagenesis of the H19 DMD in mice, maternal/paternal inheritance analysis, reporter gene expression Nature genetics Low 15273688
2007 Duplication mutations in the DMD gene arise predominantly near the 5' end of the gene (exon 2 being the most common single duplication), and sequencing of breakpoints showed they do not arise from unequal sister chromatid exchange but more likely from synthesis-dependent nonhomologous end joining, indicating a distinct mutational mechanism from deletions. MLPA, breakpoint sequencing, analysis of 118 DMD duplications Human mutation Medium 16917894
2007 Transgenic mice carrying the intact full-length human DMD gene (hDMD) express all dystrophin isoforms in a tissue-specific pattern consistent with the endogenous gene. The hDMD transgene rescued the lethal dystrophic phenotype of mdx x utrophin-null mice, demonstrating functional competence of the human genomic locus in vivo. Yeast artificial chromosome fusion, transgenic mouse generation, RT-PCR, Western blotting, histological analysis, genetic rescue of mdx x Utrn-/- mice The Journal of biological chemistry High 18083704
2009 Duplications in the DMD gene can produce aberrant transcripts that do not follow simple reading-frame predictions; RNA analysis revealed that exon-skipping events occurring within duplicated regions can re-establish the reading frame in some BMD patients carrying out-of-frame duplications, while an in-frame duplication can cause DMD through post-transcriptional/translational mechanisms not explained by the reading frame rule. RNA analysis (RT-PCR) of duplicated DMD transcripts in 16 patients Human mutation Medium 18853462
2013 The DMD gene is more highly expressed in heart than in skeletal muscle. Transcript stability (rather than transcriptional rate) is an important determinant of dystrophin protein levels in Becker muscular dystrophy patients. The mdx mouse mutant transcript shows a 5' to 3' imbalance compared to wild-type, and antisense-mediated exon skipping does not correct this imbalance. RT-PCR quantification, Western blotting, antisense exon-skipping experiments in mice and human patients FASEB journal Medium 23975932
2013 DMD point mutations can alter splicing regulatory elements (exonic splicing silencers/enhancers) to cause exon skipping, modifying disease severity. Nonsense and frameshift point mutations can produce aberrant splicing in 27/98 analyzed cases. Bioinformatics analysis showed the splicing pathway is highly dependent on the interplay between splice site strength and density of regulatory elements. RNA analysis of muscle mRNA, dystrophin protein expression, bioinformatics analysis of splicing signals in 98 DMD point mutation patients PloS one Medium 23536893
2015 FUSE binding protein 1 (FUBP1) promotes recognition of endogenous DMD exon 39 in muscle cells by binding to an intronic splicing enhancer (ISE) in intron 38. RNase-assisted pulldown with mass spectrometry revealed that hnRNPA1, hnRNPA2/B1, and DAZAP1 are recruited to a mutant RNA probe and act as splicing repressors of exon 39. FUBP1 binding to the ISE RNA was confirmed by RNA pulldown, RNA EMSA, and RNA-ChIP on endogenous DMD pre-mRNA. RNase-assisted RNA pulldown with mass spectrometry, minigene splicing assays, RNA EMSA, RNA-ChIP, serial deletion and mutagenesis Nucleic acids research High 25662218
2016 Endogenous multiple exon skipping (MES) products are present in normal human skeletal muscle RNA around the exon 44-56 region of the DMD gene. The 5' splice sites of post-transcriptional introns act as splicing donor sites for MES events. Upstream post-transcriptional introns trigger MES and generate circular RNAs (circRNAs) via back-splicing, consistent with the circRNA generation model. RT-PCR of total RNA from normal skeletal muscle, identification and sequencing of MES products, circular RNA analysis International journal of molecular sciences Medium 27754374
2017 DMD pre-mRNA splicing requires multi-step events for removal of long introns, involving temporary intron retention and co-transcriptional mechanisms. The large size of DMD introns necessitates recursive (multi-step) splicing, and alternative splicing can serve as a disease modifier by changing the outcome of primary mutations. Review synthesizing RNA sequencing data and splicing studies on human skeletal muscle DMD pre-mRNA Human genetics Low 28597072
2019 Dp71, the short dystrophin isoform expressed from a promoter in DMD intron 62, plays an essential role in tumor cell proliferation and clonogenicity in soft-tissue sarcomas. Dp71 inhibition by shRNA dramatically reduced cell proliferation and clonogenicity by altering cell cycle progression through G2/M phase, whereas Dp427 depletion had no effect on cell growth or migration. shRNA knockdown of Dp71 in STS cell lines, cell proliferation and clonogenicity assays, cell cycle analysis, RNA sequencing Cancers Medium 31266185
2019 DMD cardiomyocyte-secreted exosomes (DMD-exo) promote pathological vulnerability to stress in DMD cardiomyocytes. The microRNA cargo (not surface peptides) of DMD-exo was implicated in pathological effects, with DMD-exo miRNA cargo regulating injurious pathways including p53 and TGF-beta. Non-affected exosomes were protective, while DMD-exo were not, and inhibition of DMD-exo secretion in vitro and in vivo improved stress response. iPSC-derived cardiomyocytes, exosome isolation and characterization, miRNA cargo profiling, transcriptomic profiling, ROS measurement, mitochondrial membrane potential assay, in vivo exosome secretion inhibition Disease models & mechanisms Medium 33188007
2019 Sarcospan (SSPN) overexpression restores cardiac sarcolemma stability in dystrophin-deficient mdx mice. SSPN interacts with dystrophin and utrophin at the sarcolemma and, when overexpressed, enhances fully glycosylated α-dystroglycan abundance, restores sarcolemmal stability (primary defect in DMD), reduces fibrosis, and improves cardiac contractile function and β-adrenergic responsiveness. SSPN transgenic mice crossed to mdx and mdx:utr-heterozygous backgrounds, echocardiography, hemodynamic pressure-volume analysis, histology, biochemical analysis JCI insight Medium 31039133
2019 In a canine DMD model with dystrophin deficiency (CXMD), inactivating mutations in the DMD gene occur frequently, and DMD is recurrently somatically mutated/deleted in canine osteosarcoma (50% of tumors). This suggests a tumor suppressor role for dystrophin beyond myogenic tissues. Whole genome sequencing and whole exome sequencing of 59 canine osteosarcoma tumors with matched normal tissue Communications biology Low 31341965
2019 A tandem duplication involving DMD exons 2-7 inserted into intron 7 of the wild-type DMD gene in Labrador retrievers results in dystrophin non-detectable by Western blot and immunohistochemistry, but α-dystroglycan is present at essentially normal levels, indicating that α-dystroglycan membrane localization does not absolutely require dystrophin in this model. Whole genome sequencing, skeletal muscle cDNA analysis, Western blotting for dystrophin and α-dystroglycan, immunohistochemistry Neuromuscular disorders : NMD Medium 36041985
2019 The Dp116 isoform of dystrophin, expressed from a promoter in DMD intron 55, is expressed in glioblastoma cells. Two novel splicing patterns of DMD exons within the Dp116 region were identified: deletion of exons 68-69 and a 5' cryptic splice acceptor in exon 75, in addition to the predominant Dp116b variant lacking exon 78. PCR amplification of full-length Dp116 cDNA from U-251 glioblastoma cells, Western blotting, cDNA sequencing Biochemistry and biophysics reports Medium 31737793
2020 Premature termination codons (PTCs) in the DMD gene reduce local DMD mRNA synthesis through a transcriptional (not NMD-based cytoplasmic) mechanism. NMD inhibition did not normalize DMD expression. In situ hybridization showed DMD mRNA localizes primarily in the nuclear compartment, ruling out cytoplasmic NMD. Nascent RNA sequencing revealed lower transcription rate in patient-derived myotubes. Chromatin immunoprecipitation showed increased H3K9me3 (repressive histone mark) at the DMD locus in mdx mice, and HDAC inhibitor givinostat increased DMD transcript expression in mdx mice. NMD inhibition assay, in situ hybridization, nascent RNA sequencing, chromatin immunoprecipitation (ChIP) for H3K9me3, HDAC inhibitor treatment in mdx mice Proceedings of the National Academy of Sciences of the United States of America High 32616572
2021 Noncoding (deep intronic) DMD variants cause splice-altering events leading to premature stop codons and nonsense-mediated mRNA decay. Quantitative Western blot correlated wild-type dystrophin levels with clinical severity: 0-5% dystrophin confers Duchenne phenotype, ~10% confers Becker phenotype, and ~15% is associated with myalgia without manifesting weakness. Whole-genome sequencing, muscle RNA-seq, PCR of muscle cDNA, quantitative Western blot for dystrophin Neurology. Genetics Medium 33977140
2023 Loss of full-length dystrophin isoform in hiPSC-derived cardiac fibroblasts from DMD patients results in deficient formation of actin microfilaments and a metabolic switch from mitochondrial oxidation to glycolysis. This metabolic remodeling is associated with an exacerbated myofibroblast phenotype and increased fibroblast activation in response to pro-fibrotic challenges. hiPSC-derived cardiac fibroblasts from DMD patients, immunofluorescence for actin microfilaments, mitochondrial respiration assay (Seahorse), glycolysis measurement, myofibroblast activation assay Biology direct Medium 37501163
2023 In DMD skeletal muscle, fibro-adipogenic progenitor (FAP) content increases concurrently with a decline in muscle regenerative capacity. DMD muscle stem cells acquire a senescence phenotype early in the disease course, and this senescence correlates with impaired satellite cell activation and expansion. Myopathologic analysis of 24 DMD patient muscle biopsies, immunostaining and histology for FAPs, satellite cells, and senescence markers Acta neuropathologica communications Medium 37858263

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2009 Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Human mutation 263 19937601
1989 Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. American journal of human genetics 176 2491010
2011 Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Molecular therapy : the journal of the American Society of Gene Therapy 149 21468001
2016 DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study. Neurology 145 27343068
2005 Deletion and duplication screening in the DMD gene using MLPA. European journal of human genetics : EJHG 139 16030524
1991 Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy. Journal of the neurological sciences 124 2072118
2010 Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscular disorders : NMD 120 20630757
2006 Duplications in the DMD gene. Human mutation 120 16917894
2015 DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PloS one 115 26284620
2018 Humanizing the mdx mouse model of DMD: the long and the short of it. NPJ Regenerative medicine 110 29479480
2004 Antagonism between DNA hypermethylation and enhancer-blocking activity at the H19 DMD is uncovered by CpG mutations. Nature genetics 95 15273688
2019 Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2. Communications biology 86 31341965
2007 Generation and characterization of transgenic mice with the full-length human DMD gene. The Journal of biological chemistry 73 18083704
2006 Copy number variation in the genome; the human DMD gene as an example. Cytogenetic and genome research 69 17124406
2015 Second-generation compound for the modulation of utrophin in the therapy of DMD. Human molecular genetics 68 25935002
2007 Optimizing exon skipping therapies for DMD. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 63 18646569
1998 Dmd(mdx-beta geo): a new allele for the mouse dystrophin gene. Developmental dynamics : an official publication of the American Association of Anatomists 56 9626497
2020 Premature termination codons in the DMD gene cause reduced local mRNA synthesis. Proceedings of the National Academy of Sciences of the United States of America 55 32616572
2019 Relationships between DMD mutations and neurodevelopment in dystrophinopathy. Neurology 53 31594858
2004 Recombinant adeno-associated viral (rAAV) vectors as therapeutic tools for Duchenne muscular dystrophy (DMD). Gene therapy 51 15454965
2018 Skipping Multiple Exons to Treat DMD-Promises and Challenges. Biomedicines 49 29301272
2021 The DMD gene and therapeutic approaches to restore dystrophin. Neuromuscular disorders : NMD 48 34736624
2012 LINC complex alterations in DMD and EDMD/CMT fibroblasts. European journal of cell biology 47 22555292
2021 Pharmacology and toxicology of eteplirsen and SRP-5051 for DMD exon 51 skipping: an update. Archives of toxicology 43 34797383
2016 Endogenous Multiple Exon Skipping and Back-Splicing at the DMD Mutation Hotspot. International journal of molecular sciences 41 27754374
2013 Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. PloS one 41 23536893
2023 Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells. Acta neuropathologica communications 40 37858263
2017 Normal and altered pre-mRNA processing in the DMD gene. Human genetics 39 28597072
2013 DMD transcript imbalance determines dystrophin levels. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 39 23975932
2019 Exons 45-55 Skipping Using Mutation-Tailored Cocktails of Antisense Morpholinos in the DMD Gene. Molecular therapy : the journal of the American Society of Gene Therapy 35 31416775
2017 The AAV-mediated and RNA-guided CRISPR/Cas9 system for gene therapy of DMD and BMD. Brain & development 35 28390761
1989 Hot spot of recombination within DXS164 in the Duchenne muscular dystrophy gene. American journal of human genetics 34 2570527
2010 Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis. The Indian journal of medical research 33 20847377
2011 Immune response and mitochondrial metabolism are commonly deregulated in DMD and aging skeletal muscle. PloS one 31 22096509
2020 Common therapeutic advances for Duchenne muscular dystrophy (DMD). The International journal of neuroscience 30 32241218
2017 Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations. Oncotarget 30 27391342
2015 FUBP1: a new protagonist in splicing regulation of the DMD gene. Nucleic acids research 30 25662218
1987 Familial inheritance of a DXS164 deletion mutation from a heterozygous female. American journal of human genetics 30 2887110
2007 Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. European journal of human genetics : EJHG 29 17726484
2020 Pseudoexons of the DMD Gene. Journal of neuromuscular diseases 28 32176650
2022 Prime editing optimized RTT permits the correction of the c.8713C>T mutation in DMD gene. Molecular therapy. Nucleic acids 25 36320324
2021 WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. Neurology. Genetics 25 33977140
2020 Duchenne muscular dystrophy (DMD) cardiomyocyte-secreted exosomes promote the pathogenesis of DMD-associated cardiomyopathy. Disease models & mechanisms 25 33188007
2019 Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies. Human mutation 25 31705731
2022 Long-term maintenance of dystrophin expression and resistance to injury of skeletal muscle in gene edited DMD mice. Molecular therapy. Nucleic acids 24 35402069
2019 Stabilization of the cardiac sarcolemma by sarcospan rescues DMD-associated cardiomyopathy. JCI insight 24 31039133
2019 Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening. Genetics in medicine : official journal of the American College of Medical Genetics 23 31197268
2015 Dietary MicroRNA Database (DMD): An Archive Database and Analytic Tool for Food-Borne microRNAs. PloS one 23 26030752
2008 Clinical approaches in the treatment of Duchenne muscular dystrophy (DMD) using oligonucleotides. Frontiers in bioscience : a journal and virtual library 22 17981565
2022 Current Practices in Treating Cardiomyopathy and Heart Failure in Duchenne Muscular Dystrophy (DMD): Understanding Care Practices in Order to Optimize DMD Heart Failure Through ACTION. Pediatric cardiology 21 35024902
2002 Gene transfer studies in animals: what do they really tell us about the prospects for gene therapy in DMD? Neuromuscular disorders : NMD 21 12206790
2024 The complex landscape of DMD mutations: moving towards personalized medicine. Frontiers in genetics 20 38596212
2022 Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations. Open heart 20 36252992
2020 Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. Journal of neuromuscular diseases 20 32417793
2019 Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies. Frontiers in genetics 20 30833962
2022 Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in DMD in an Asymptomatic Male and a DMD Patient. Frontiers in genetics 19 35615378
2019 The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice. Molecular therapy : the journal of the American Society of Gene Therapy 19 31628052
2022 Correction of DMD in human iPSC-derived cardiomyocytes by base-editing-induced exon skipping. Molecular therapy. Methods & clinical development 18 36588820
2016 The emerging role of viral vectors as vehicles for DMD gene editing. Genome medicine 18 27215286
2022 Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing. Molecular genetics & genomic medicine 17 35912688
2016 Structural characterizations of phage antitoxin Dmd and its interactions with bacterial toxin RnlA. Biochemical and biophysical research communications 16 26972252
2015 Adeno-Associated Virus (AAV) Mediated Dystrophin Gene Transfer Studies and Exon Skipping Strategies for Duchenne Muscular Dystrophy (DMD). Current gene therapy 16 26159373
2009 Point mutations in Czech DMD/BMD patients and their phenotypic outcome. Neuromuscular disorders : NMD 16 19783145
2024 Comparison of pharmaceutical properties and biological activities of prednisolone, deflazacort, and vamorolone in DMD disease models. Human molecular genetics 15 37819629
2023 DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies. Circulation. Genomic and precision medicine 15 37671549
2022 Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline. European journal of human genetics : EJHG 15 36198806
2022 Reclassification of DMD Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal Screening. Genes 15 36360209
2021 Pathological alterations in the gastrointestinal tract of a porcine model of DMD. Cell & bioscience 15 34266495
2019 Recurrent DMD Deletions Highlight Specific Role of Dp71 Isoform in Soft-Tissue Sarcomas. Cancers 15 31266185
2020 Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries. Neurology. Genetics 14 33376799
2018 High urinary ferritin reflects myoglobin iron evacuation in DMD patients. Neuromuscular disorders : NMD 14 29776718
2009 Transcriptional behavior of DMD gene duplications in DMD/BMD males. Human mutation 14 18853462
2025 Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity. Brain : a journal of neurology 12 39499670
2024 Severe cardiac and skeletal manifestations in DMD-edited microminipigs: an advanced surrogate for Duchenne muscular dystrophy. Communications biology 12 38702481
2023 IPSC derived cardiac fibroblasts of DMD patients show compromised actin microfilaments, metabolic shift and pro-fibrotic phenotype. Biology direct 12 37501163
2022 Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. Annals of neurology 12 35897138
2022 Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. Journal of neurology 12 36319768
2018 Pulmonary function and clinical correlation in DMD. Paediatric respiratory reviews 12 31130422
2016 Comparative transcriptome analysis of muscular dystrophy models Large(myd), Dmd(mdx)/Large(myd) and Dmd(mdx): what makes them different? European journal of human genetics : EJHG 12 26932192
2024 A Novel CRISPR-Cas9 Strategy to Target DYSTROPHIN Mutations Downstream of Exon 44 in Patient-Specific DMD iPSCs. Cells 11 38891104
2023 Prime editing strategies to mediate exon skipping in DMD gene. Frontiers in medicine 11 37305116
2023 Dual CRISPR-Cas3 system for inducing multi-exon skipping in DMD patient-derived iPSCs. Stem cell reports 11 37625413
2014 MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai. Journal of clinical laboratory analysis 11 25131993
2024 Long-Term Survival and Myocardial Function Following Systemic Delivery of Delandistrogene Moxeparvovec in DMDMDX Rats. Human gene therapy 10 39607794
2021 Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients. Frontiers in genetics 10 33936175
2019 The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine. BMC research notes 10 31661024
2019 Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention. Current genomics 10 32655290
2015 MicroRNA and mRNA Expression Changes in Steroid Naïve and Steroid Treated DMD Patients. Journal of neuromuscular diseases 10 27858746
2010 Differential integrin expression by T lymphocytes: potential role in DMD muscle damage. Journal of neuroimmunology 10 20382434
2024 An Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy Using the UMD-DMD Database. Genes 9 39596689
2023 Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse Model. Biomedicines 9 38137463
2022 Comparison of dystrophin expression following gene editing and gene replacement in an aged preclinical DMD animal model. Molecular therapy : the journal of the American Society of Gene Therapy 9 35143959
2019 Schwann cell-specific Dp116 is expressed in glioblastoma cells, revealing two novel DMD gene splicing patterns. Biochemistry and biophysics reports 9 31737793
2018 DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy. Cardiology in the young 9 29766838
2017 Duchenne Muscular Dystrophy (DMD) Protein-Protein Interaction Mapping. Iranian journal of child neurology 9 29201118
2023 Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy. International journal of molecular sciences 8 36834603
2023 Vascular therapy for Duchenne muscular dystrophy (DMD). Faculty reviews 8 36873982
2023 Characterization of the Ang/Tie2 Signaling Pathway in the Diaphragm Muscle of DMD Mice. Biomedicines 8 37626761
2022 Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and Cardiomyocytes. International journal of molecular sciences 8 36012442
2022 Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. Neuromuscular disorders : NMD 8 36041985

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