|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recently, the use of a transgenic mouse model system for Duchenne muscular dystrophy has demonstrated the ability of utrophin to functionally replace dystrophin and alleviate the muscle pathology (see Tinsley, J. M., Potter, A. C., Phelps, S. R., Fisher, R., Trickett, J. I., and Davies, K. E. (1996) Nature 384, 349-353).
|
9079621 |
1997 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Experiments involving different programmable nuclease platforms and target cell types have established that the application of genome-editing principles to the targeted manipulation of defective DMD loci can result in the rescue of dystrophin protein synthesis in gene-edited cells.
|
27215286 |
2016 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Melanocytes of Duchenne muscular dystrophy (DMD) patients did not express dystrophin, and the ultrastructural analysis revealed typical mitochondrial alterations similar to those occurring in myoblasts from the same patients.
|
23169061 |
2013 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is the most common inherited neuromuscular disease, and is characterized by the lack of dystrophin, muscle wasting, increased transforming growth factor (TGF)-β Smad-dependent signalling and fibrosis.
|
24163134 |
2014 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
The absence of dystrophin, characterizing Duchenne muscular dystrophy (DMD), is associated with brain related comorbidities such as neurodevelopmental (e.g., cognitive and behavioural) deficits and epilepsy.
|
30069964 |
2019 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
|
17041906 |
2007 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne Muscular Dystrophy (DMD) is a common, inherited, incurable, fatal muscle wasting disease caused by deletions that disrupt the reading frame of the DMD gene such that no functional dystrophin protein is produced.
|
22274137 |
2012 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three tandem duplications were previously identified in patients with Duchenne muscular dystrophy and were shown in each case to have a subset of dystrophin gene exons duplicated.
|
1868831 |
1991 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results support the hypothesis that the DMD phenotype in female carriers of a dystrophin mutation has a direct correlation with a skewed X-chromosome inactivation pattern.
|
24135430 |
2014 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dystrophin/utrophin double-knockout (dKO) mice develop a more severe and progressive muscular dystrophy than the mdx mice, the most common murine model of Duchenne muscular dystrophy (DMD).
|
29078808 |
2017 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A muscle biopsy from an X-linked muscular dystrophy pedigree showed normal dystrophin and dystrophin-associated proteins.
|
9851445 |
1998 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By cloning the endpoints of a DMD-associated deletion, we have "jumped" 1100 kb from pERT87-1 (DSX164) to a new locus designated J66 (DXS268), mapping distally within the Duchenne muscular dystrophy (DMD) gene.
|
2896627 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.
|
26081639 |
2016 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results not only shed critical light on dystrophin biology and DMD pathogenesis, but also provide a foundation for rationally engineering minimized dystrophins for DMD gene therapy.
|
27378693 |
2016 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although the disintegration of the dystrophin-associated glycoprotein complex triggers the initial pathogenesis of Duchenne muscular dystrophy, secondary alterations in metabolic pathways, cellular signaling and the regulation of ion homeostasis are probably crucial factors that cause end-stage fibre degeneration.
|
20082121 |
2009 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
The use of antisense oligonucleotides (AOs) to induce exon skipping leading to generation of an in-frame dystrophin protein product could be of benefit in around 70% of Duchenne muscular dystrophy patients.
|
14527677 |
2003 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Of all novel molecular interventions currently being investigated for Duchenne muscular dystrophy, perhaps the most promising method aiming to restore dystrophin expression to diseased cells is known as 'exon skipping' or splice-modulation, whereby antisense oligonucleotides eliminate the deleterious effects of DMD mutations by modulating dystrophin pre-messenger RNA splicing, such that functional dystrophin protein is produced.
|
20150322 |
2010 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
The contiguous deletion that leads to GKD also commonly affects NR0B1 (DAX1), the gene associated with adrenal hypoplasia congenita, and DMD, the Duchenne muscular dystrophy gene.
|
16887896 |
2006 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results indicate that changes in cellular energetics and stress resistance via dystrophin restoration enhance muscle progenitor cell function, further validating that dystrophin plays a role in stem cell function and demonstrating the potential for new therapeutic approaches for DMD.Stem Cells 2019;37:1615-1628.
|
31574188 |
2019 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Eteplirsen treatment for Duchenne muscular dystrophy: Exon skipping and dystrophin production.
|
29752304 |
2018 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Our results provide first evidence of highly effective restoration of dystrophin expression from the endogenous gene in DMD patient-derived muscle cells.
|
11468272 |
2001 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Characterization with a panel of six antibodies revealed abnormal dystrophin expression in 6 of 20 Duchenne muscular dystrophy (DMD) carriers examined, and in 5 of 12 Becker muscular dystrophy (BMD) carriers examined.
|
8263549 |
1993 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Rapid direct sequence analysis of the dystrophin gene.
|
12632325 |
2003 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Intramuscular administration of polyplexes resulted in dystrophin-positive fibers in a mouse model of Duchenne muscular dystrophy without apparent toxicity.
|
27956144 |
2017 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This case report describes a young boy with concomitant genetically-confirmed Duchenne muscular dystrophy and facioscapulohumeral muscular dystrophy with a novel dystrophin mutation in exon 6 and a D4Z4 fragment of 31 kb.
|
18586493 |
2008 |