Heart failure
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A 25-base pair deletion in the cardiac myosin binding protein-C (cMyBP-C) gene (MYBPC3), proposed to skip exon 33, modifies the C10 domain (cMyBP-CΔC10mut) and is associated with hypertrophic cardiomyopathy (HCM) and heart failure, affecting approximately 100 million South Asians.
|
31050699 |
2019 |
Heart failure
|
0.100 |
Biomarker
|
disease |
BEFREE |
MYBPC3 Δ25bp has been linked to cardiomyopathy and heart failure.
|
29641836 |
2018 |
Heart failure
|
0.100 |
Biomarker
|
disease |
BEFREE |
The in vivo and in vitro functional enhancement of DKO mice demonstrates that enhancing the sarcomeric contractility can be cardioprotective in HF characterized by reduced cardiac output, such as in cases of DCM.
|
30279005 |
2018 |
Heart failure
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Also, targeting specific pathogenic gene mutations is promising to protect future generations from HF, such as recently done in human embryos carrying the cardiomyopathy-associated MYBPC3 mutation.
|
29912321 |
2018 |
Heart failure
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy.
|
29663722 |
2018 |
Heart failure
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
With more than 200 mutations in the cMyBP-C gene directly linked to the development of cardiomyopathy and heart failure, cMyBP-C clearly plays a critical role in heart function.
|
24196566 |
2014 |
Heart failure
|
0.100 |
Biomarker
|
disease |
BEFREE |
In terms of electrophysiological phenotypes, mybpc3 knockdown fish had a longer ventricular action potential duration and slower ventricular diastolic calcium reuptake, both of which are typical electrophysiological features in human cardiac hypertrophy and heart failure.
|
24047589 |
2013 |
Heart failure
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Therefore, 25 bp deletion in MYBPC3 may represent a genetic marker for cardiac failure in CAD patients from Southeast Asia.
|
21915287 |
2011 |
Heart failure
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Myosin binding protein C gene (MYBPC3) mutation was associated with 2 cases of sudden cardiac death and 3 cases of heart failure among 7 affected members.
|
20641121 |
2010 |
Heart failure
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe a deletion of 25 bp in the gene encoding cardiac myosin binding protein C (MYBPC3) that is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations (initial study OR = 5.3 (95% CI = 2.3-13), P = 2 x 10(-6); replication study OR = 8.59 (3.19-25.05), P = 3 x 10(-8); combined OR = 6.99 (3.68-13.57), P = 4 x 10(-11)) and that disrupts cardiomyocyte structure in vitro.
|
19151713 |
2009 |
Heart failure
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MYBPC3 mutations can be associated with cardiac events such as progressive heart failure, stroke and sudden death even at younger age.
|
18957093 |
2008 |
Heart failure
|
0.100 |
Biomarker
|
disease |
LHGDN |
Myosin binding protein C phosphorylation in normal, hypertrophic and failing human heart muscle.
|
18573260 |
2008 |