Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
RA306 was administered to diseased mice carrying a mutation in alpha-actin that is responsible for dilated cardiomyopathy (DCM) in humans.
|
31038167 |
2020 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy.
|
30518548 |
2019 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We combined a genome-wide linkage analysis with cell biology, microscopy, and molecular biology tools to characterize a novel ACTC1 (cardiac α-actin) mutation identified in association with ASD and late-onset dilated cardiomyopathy in a large, multi-generational family.
|
31430208 |
2019 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations of α-actin gene (ACTC1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction.
|
29440008 |
2018 |
Cardiomyopathy, Dilated
|
0.100 |
Biomarker
|
group |
BEFREE |
Accordingly, loss of PI3Kα, the key PIP3-producing enzyme in the heart, increases gelsolin-mediated actin-severing activities in the myocardium in vivo, resulting in dilated cardiomyopathy in response to pressure-overload.
|
30568254 |
2018 |
Cardiomyopathy, Dilated
|
0.100 |
Biomarker
|
group |
BEFREE |
To understand the roles that the actin protein plays in the development of heart failure, we have taken a systematic approach toward characterizing human cardiac actin mutants that have been associated with either hypertrophic or dilated cardiomyopathy.
|
22590617 |
2012 |
Cardiomyopathy, Dilated
|
0.100 |
Biomarker
|
group |
BEFREE |
Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy.
|
21768101 |
2011 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the human cardiac actin gene (ACTC) have been implicated in the development of hypertrophic or dilated cardiomyopathy in humans.
|
16845895 |
2006 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
With respect to the cytoskeleton, disruption of the non-sarcomeric actin linkage at the intercalated discs via overexpressing the VASP-EHV1 domain is sufficient to cause dilated cardiomyopathy (DCM).
|
15572040 |
2004 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Metavinculin mutations alter actin interaction in dilated cardiomyopathy.
|
11815424 |
2002 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The most dramatic example of this property is actin, mutations in which are associated with hypertrophic cardiomyopathy, dilated cardiomyopathy, nemaline myopathy and actin myopathy.
|
11563546 |
2001 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations affecting functionally distinct domains of actin also cause dilated cardiomyopathy (DCM).
|
11273725 |
2001 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Evaluation of the cardiac actin gene in Doberman Pinschers with dilated cardiomyopathy.
|
11197556 |
2001 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy.
|
11052860 |
2000 |
Cardiomyopathy, Dilated
|
0.100 |
Biomarker
|
group |
BEFREE |
By use of the candidate-gene approach, actin was identified recently as being responsible for dilated cardiomyopathy.
|
10430757 |
1999 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy and hypertrophic cardiomyopathy), cardiac myosin (hypertrophic cardiomyopathy) and non-muscle myosin (deafness).
|
10508519 |
1999 |
Cardiomyopathy, Dilated
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
|
9563954 |
1998 |
Cardiomyopathy, Dilated
|
0.100 |
AlteredExpression
|
group |
BEFREE |
These results indicate that the expression of atrial natriuretic peptide and skeletal alpha-actin mRNAs are not always co-localized in the left ventricle of patients with dilated cardiomyopathy and suggest that the mechanisms of the regulation of these two genes in the chronic failing heart are different.
|
7797780 |
1995 |