|
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The reduced expression of desmoglein in dystrophin-deficient skeletal muscles, and simultaneous increase in components of the extracellular matrix, suggest that muscular dystrophy is associated with plasmalemmal disintegration, loss of cellular linkage and reactive myofibrosis.
|
28803268 |
2017 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease.
|
26911353 |
2016 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
We investigated whether nicorandil promotes cardioprotection in human dystrophin-deficient induced pluripotent stem cell (iPSC)-derived cardiomyocytes and the muscular dystrophy mdx mouse heart.
|
26940570 |
2016 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in genes encoding components of the sarcolemmal dystrophin-glycoprotein complex (DGC) are responsible for a large number of muscular dystrophies.
|
27099343 |
2016 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The dystrophin gene is the one of the largest described in human beings and mutations associated to this gene are responsible for Duchenne or Becker muscular dystrophies.
|
27515321 |
2016 |
|
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Absence or reduced expression of dystrophin or many of the DPC components cause the muscular dystrophies, a group of inherited diseases in which repeated bouts of muscle damage lead to atrophy and fibrosis, and eventually muscle degeneration.
|
26676145 |
2016 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies.
|
26042512 |
2015 |
|
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Collectively, these data show that microRNAs contribute to variable dystrophin levels in muscular dystrophy.
|
26321630 |
2015 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies.
|
26295289 |
2015 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
The identification of the protein dystrophin has led to a new understanding of the muscle cell membrane and the proteins involved in membrane stability, as well as new candidate genes for additional forms of muscular dystrophy.
|
26048046 |
2015 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Next generation sequencing of muscular dystrophy-related genes revealed a hemizygous deletion of exons 17-34 of the dystrophin-encoding gene.
|
25998609 |
2015 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies are caused by mutations in dystrophin.
|
25702278 |
2015 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we used CRISPR/Cas9 to target the monkey dystrophin gene to create mutations that lead to Duchenne muscular dystrophy (DMD), a recessive X-linked form of muscular dystrophy.
|
25859012 |
2015 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Through these cases, we discussed the challenges of genetic counseling in the family, regarding the predictive issues for male individuals at risk for a muscular dystrophy without precise knowledge of the clinical consequences of some CNVs in the DMD gene.
|
24835530 |
2015 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males.
|
25076844 |
2014 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most commonly inherited neuromuscular disease.
|
23756440 |
2014 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
To determine whether the progression of muscular dystrophy is a consequence of the decline in functional MPCs, we investigated two animal models of DMD: (i) dystrophin-deficient mdx mice, the most commonly utilized model of DMD, which has a relatively mild dystrophic phenotype and (ii) dystrophin/utrophin double knock-out (dKO) mice, which display a similar histopathologic phenotype to DMD patients.
|
24781208 |
2014 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DMD gene, encoding dystrophin, cause the most common forms of muscular dystrophy.
|
25198047 |
2014 |
|
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The dystrophinopathies Duchenne and Becker muscular dystrophies (DMD and BMD) represent the most common inherited disorders of muscle.
|
25037084 |
2014 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Whole dystrophin gene sequencing by next-generation sequencing may be a useful tool for the genetic diagnosis of Duchenne and Becker muscular dystrophies.
|
24770780 |
2014 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in sarcoglycans and other subunits of the dystrophin-glycoprotein complex cause muscular dystrophy and dilated cardiomyopathy in animals and humans.
|
24334334 |
2014 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
These findings validate dystrophin as a tumor suppressor and likely anti-metastatic factor, suggesting that therapies in development for muscular dystrophies may also have relevance in the treatment of cancer.
|
24793134 |
2014 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene (STS) cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG)n repeat expansion in the FMR1 gene is associated with fragile X syndrome.
|
23574351 |
2014 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we have identified the first DMD mutation in Dp71 that results in ID without muscular dystrophy.
|
23900271 |
2014 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked inherited muscular disorders caused by mutations in the dystrophin gene.
|
24225992 |
2014 |