Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder and is caused mainly by deletion, duplication and point mutations in the DMD gene.
|
31719299 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Exclusion of exon 53 from the DMD primary transcript can treat 8-10% of DMD patients worldwide.
|
31720560 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD), the most severe form of dystrophinopathy, is quite homogeneous with regards to its causative biochemical defect, i.e., complete dystrophin deficiency, but not so much with regards to its phenotype.
|
31083420 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy is a lethal X-linked muscle wasting disease due to mutations of the dystrophin gene leading to distinct susceptibility to degeneration and fibrosis among skeletal muscles.
|
30953145 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
This can potentially be achieved by targeting and skipping specific exons of the Duchenne muscular dystrophy gene to restore the disrupted reading frame and to induce the production of a semi functional dystrophin protein.
|
30448867 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
|
30281092 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Intravenous treatment of canine X-linked muscular dystrophy in Japan dogs with a 4-PMO cocktail resulted in ∼3%-27% in-frame exon 6-9 skipping and dystrophin restoration across skeletal muscles up to 14% of healthy levels.
|
30448197 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is a genetic disorder caused by loss of the protein dystrophin.
|
30755520 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dystrophin gene can be characterized by laboratory testing to confirm a clinical diagnosis of DMD/BMD.
|
30660698 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Indeed, already before the discovery of dystrophin, several abnormalities in blood vessels structure and function have been revealed, suggesting that targeting angiogenesis could be beneficial in DMD.
|
30770952 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
In the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy, limb muscles are especially fragile.
|
31340406 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Overall, these data support the concept that exercise training in the form of isometric tetanic contractions can improve contractile function of dystrophin-deficient muscle, indicating a potential role for enhancing muscle strength in patients with DMD and BMD.
|
30571283 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital muscular dystrophy type-1A (Lama2-CMD) and Duchenne muscular dystrophy (DMD) result from deficiencies of laminin-α2 and dystrophin proteins, respectively.
|
31348492 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cardiac Protection after Systemic Transplant of Dystrophin Expressing Chimeric (DEC) Cells to the mdx Mouse Model of Duchenne Muscular Dystrophy.
|
31612351 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We found that myogenic cells derived from extra eyelid tissue proliferated and differentiated myofibers in vitro, and restored DYSTROPHIN or PAX7 expression after transplantation with these cells in mice with Duchenne muscular dystrophy.
|
31337111 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy.
|
30990876 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne's muscular dystrophy (DMD) paves the way forward, with 26 out of 42 studies reporting different strategies on DMD gene editing in different models of the disease.
|
30794581 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
The present results give novel insights into the synaptic deficits underlying Duchenne Muscular Dystrophy affected by a dysfunctional Dystrophin Glycoprotein complex.
|
30904609 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne's muscular dystrophy (DMD) is a neuromuscular disorder affecting skeletal and cardiac muscle function, caused by mutations in the dystrophin (DMD) gene.
|
31465894 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
The <i>in vivo</i> requirements of dystrophin during cerebellar circuit communication could help explain the motor and cognitive anomalies seen in individuals with DMD.This article has an associated First Person interview with the first author of the paper.
|
31704708 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Previous studies from others and us have demonstrated that CRISPR genome editing could offer a promising therapeutic strategy to restore dystrophin expression and function in the skeletal muscle and heart of Duchenne muscular dystrophy (DMD) mouse models.
|
31129119 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To predict the risk of dystrophinopathy in fetal carriers of dystrophin gene (DMD) mutations.
|
31069818 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dystrophin deficiency leads to progressive muscle degeneration in Duchenne muscular dystrophy (DMD) patients.
|
30944252 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Experiments in animal models of DMD have generated a number of different approaches to the induction of dystrophin including viral vector mediated delivery of a recombinant dystrophin gene, antisense oligonucleotide mediated exon-skipping to restore the open reading frame in the dystrophin mRNA, read-through of premature stop mutations, genome modification using CRISPR-Cas9 or cell based transfer of a functional dystrophin gene.
|
31289969 |
2019 |
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
These pathobiochemical alterations agree with the idea of highly complex secondary changes in X-linked muscular dystrophy and support the concept that micro-rupturing of the dystrophin-deficient plasma membrane is at the core of muscle wasting pathology.
|
29408692 |
2019 |