|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Heart failure invariably affects patients with various forms of Muscular Dystrophy (MD), but the onset and molecular sequelae of altered structure and function resulting from full-length dystrophin (Dp427) deficiency in MD heart tissue are poorly understood.To better understand the role of dystrophin in cardiomyocyte development and the earliest phase of DMD cardiomyopathy, we studied human cardiomyocytes differentiated from induced pluripotent stem cells (hiPSC-CMs) obtained from the urine of a Deuchenne Muscular Dystrophy (DMD) patient.
|
31049579 |
2020 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations of the dystrophin gene leading to a complete loss of the protein cause Duchenne muscular dystrophy (DMD), frequently associated with severe cardiomyopathy.
|
22248393 |
2012 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
These results indicate that viral infection can influence the severity and penetrance of the cardiomyopathy that occurs in the hearts of dystrophin-deficient individuals.
|
12118246 |
2002 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
The cardiomyopathy of Duchenne's muscular dystrophy and the function of dystrophin.
|
8502196 |
1993 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Although mdx mice are deficient in dystrophin, they only develop mild indicators of cardiomyopathy before 1year-of-age, making therapeutic investigations using this model lengthy.
|
22749475 |
2012 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Dystrophin deficiency also gives rise to considerable complications in the heart, including cardiomyopathy development and arrhythmias.
|
30360568 |
2018 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Duchenne Muscular Dystrophy (DMD) cardiomyopathy is a progressive lethal disease caused by the lack of the dystrophin protein in the heart.
|
28623080 |
2017 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Because genetic analysis cannot determine the correct diagnosis in 35% of DMD/BMD cases, we recommend routine examination of immunostaining patterns of dystrophin in endomyocardial biopsy specimens in patients with cardiomyopathy suspected to be the result of BMD.
|
7900621 |
1995 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
NEW & NOTEWORTHY This study examined the effects of phospholamban ablation on the pathophysiology of cardiomyopathy in dystrophin-deficient mice.
|
30118340 |
2018 |
|
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 |