|
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Rapid direct sequence analysis of the dystrophin gene.
|
12632325 |
2003 |
|
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 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy is a recessive disease due to a mutation in the dystrophin gene.
|
18522236 |
2008 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report one of the largest study based on the comparison of clinical, cognitive, molecular and expression data in a large cohort of 81 patients affected with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) bearing mutations predicted to affect either all dystrophin products, including Dp71 or all dystrophin products, except Dp71.
|
19602481 |
2009 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the reduction of Dp71 protein in the Duchenne muscular dystrophy neurons leads to alterations in SERCA2 and to elevated cytosolic Ca<sup>2+</sup> concentration with consequent potential disruption of the dystrophin proteins and Dp71-associated proteins.
|
30646960 |
2019 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Since the donor of one of these biopsies has a large deletion of the 5'-region of the DMD gene, our results argue against the recent proposal that nebulin is the gene mutated in DMD.
|
3678494 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is induced by a wide spectrum of mutations such as exon deletions, duplications and small mutations in the dystrophin gene.
|
31139960 |
2019 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) results from genetic mutations of the gene encoding dystrophin, leading to muscle inflammation and degeneration that is typically treated with glucocorticoids.
|
29691609 |
2018 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In about 65% of the cases of Duchenne muscular dystrophy (DMD) a partial gene deletion or duplication in the dystrophin gene can be detected.
|
1415256 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the Duchenne muscular dystrophy (DMD) syndrome, mutations affecting expression of Dp71, the main dystrophin isoform of the multipromoter dmd gene in brain, have been associated with intellectual disability and neuropsychiatric disturbances.
|
30051354 |
2019 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DMD is associated with specific learning and behavioral disabilities that are more prominent in patients with mutations in the distal part of the DMD gene, predicted to affect expression of shorter protein isoforms.
|
25043804 |
2014 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease arising from mutations in the dystrophin gene.
|
31755636 |
2020 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An unusual case of infantile onset Duchenne muscular dystrophy (DMD) with an internal 3' genomic deletion, and a membrane localized non-functional dystrophin protein, was used to explore the functional activity of this region.
|
1644931 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We selectively screened 5 DMD exons containing CpG dinucleotides in 110 DMD patients without detectable deletions or duplications.
|
8499922 |
1993 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We undertook an open-label, phase 2, dose-escalation study (0·5, 1·0, 2·0, 4·0, 10·0, and 20·0 mg/kg bodyweight) in ambulant patients with Duchenne muscular dystrophy aged 5-15 years with amenable deletions in DMD.
|
21784508 |
2011 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, 15 revertant fibers in a DMD patient with a frameshift deletion of exon 45 were shown to correct the frameshift by the additional deletion of exon 44 (or perhaps exon 46 in some fibers) from the dystrophin mRNA, but not by larger deletions.
|
7887428 |
1995 |