|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
However, 2.5-7.8% of them may present muscle symptoms and cardiomyopathy, attributed to a reduced production of dystrophin, probably because of skewed patterns of X-chromosome inactivation (XCI).
|
23110537 |
2013 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
The central aim to this work was to find out the possible role of dystrophin and titin along with the TNF-alpha in the pathogenesis of cardiomyopathy.
|
20373002 |
2010 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations in the genes encoding dystrophin and the associated membrane proteins, the sarcoglycans, produce muscular dystrophy and cardiomyopathy.
|
21138941 |
2011 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We report the first case of a DNA segment deletion encompassing promoters M and P of the human dystrophin gene, which caused a very severe muscle phenotype without cardiomyopathy, in a 13-year-old boy.
|
12031623 |
2002 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We identified a novel dystrophin mutation (p.1667 del Ala), resulting in BMD-associated cardiomyopathy that demonstrated the pathological features of significant fibrofatty replacement in the sub-epicardial layer of the ventricle; further, the high-throughput sequencing is helpful for making an early diagnosis of BMD.
|
30103083 |
2018 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
In the current preclinical study, we demonstrate the therapeutic potential of sarcospan (SSPN) overexpression to alleviate cardiomyopathy associated with Duchenne muscular dystrophy (DMD) utilizing dystrophin-deficient mdx mice with utrophin haploinsufficiency that more accurately represent the severe disease course of human DMD.
|
31039133 |
2019 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
The loss of dystrophin or its associated proteins results in the development of muscle wasting frequently associated with cardiomyopathy.
|
24645914 |
2014 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy.
|
29127875 |
2017 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency.
|
8784804 |
1996 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
These results show that lack of dystrophin is commonly associated with changes in myocardial features well before the onset of changes of systolic function and overt cardiomyopathy.
|
12875769 |
2003 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy.
|
9441825 |
1997 |
|
Cardiomyopathies
|
0.700 |
AlteredExpression
|
group |
BEFREE |
This work demonstrates that high levels of cardiac dystrophin restored by Pip peptide-AOs prevents further deterioration of cardiomyopathy and pathology following exercise in dystrophic DMD mice.
|
25758104 |
2015 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is associated with severe cardiac complications including cardiomyopathy and cardiac arrhythmias.
|
21677768 |
2011 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Nicorandil, a Nitric Oxide Donor and ATP-Sensitive Potassium Channel Opener, Protects Against Dystrophin-Deficient Cardiomyopathy.
|
26940570 |
2016 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
We and others have shown that mosaic dystrophin expression at the wild-type level, depending on the percentage of dystrophin positive cardiomyocytes, can either delay the onset of or fully prevent cardiomyopathy in dystrophin-null mdx mice.
|
27908661 |
2017 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Females with dystrophin mutations are at risk for cardiomyopathy, but are usually asymptomatic during childhood.
|
19449433 |
2009 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Dual Therapy Deflazacort/Doxycyclyne Is Better Than Deflazacort Monotherapy to Alleviate Cardiomyopathy in Dystrophin-Deficient mdx Mice.
|
28793824 |
2017 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We analyzed 78 BMD and X-linked dilated cardiomyopathy patients with common deletion mutations predicted to alter the dystrophin protein and correlated their mutations to cardiomyopathy age of onset.
|
20031633 |
2009 |
|
Cardiomyopathies
|
0.700 |
AlteredExpression
|
group |
BEFREE |
In conclusion, this study demonstrated that allogeneic WT-MPC-Exo transplantation transiently restored dystrophin gene expression and improved cardiac function in MDX mice, suggesting that allogenic exosomal delivery may serve as an alternative treatment for cardiomyopathy of DMD.
|
30155598 |
2018 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
We recently identified cleavage and functional impairment of dystrophin by the viral protease 2A during CVB3-infection as a molecular mechanism that may contribute to the pathogenesis of enterovirus-induced cardiomyopathy.
|
11056105 |
2000 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Lack of dystrophin also results to cardiomyopathy, which raises significantly the stroke risk in DMD-patients.
|
29552091 |
2018 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Previously, treatment with β-blockers showed beneficial effects on the development of cardiomyopathy in dystrophin-deficient (mdx) mice, but not in δ-sarcoglycan-deficient (Sgcd-/-) mice.
|
30782477 |
2019 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Distinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex.
|
21665956 |
2011 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine.
|
30235804 |
2018 |
|
Cardiomyopathies
|
0.700 |
AlteredExpression
|
group |
BEFREE |
The absence of dystrophin and the down-regulation of the dystrophin-associated proteins in the heart accounted for the severe cardiomyopathy in this family.
|
7635962 |
1995 |