|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy.
|
30550750 |
2019 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy.
|
30456444 |
2019 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay.
|
30586709 |
2019 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography study.
|
30668650 |
2019 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy.
|
30645170 |
2019 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
|
31730716 |
2019 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X mutation.
|
30976029 |
2019 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Next-generation sequencing (NGS) as a molecular diagnostic tool for hypertrophic cardiomyopathy in a Chinese boy due to novel compound heterozygous mutations in the MYBPC3 gene: A case report.
|
30896616 |
2019 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SarcTrack analysis of hiPSC-CMs carrying a heterozygous truncation variant in the myosin-binding protein C ( MYBPC3) gene, which causes hypertrophic cardiomyopathy, recapitulated seminal disease phenotypes including cardiac hypercontractility and diminished relaxation, abnormalities that normalized with MYK-461 treatment.
|
30700234 |
2019 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy.
|
29663722 |
2018 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
These genes were classified as contraction defects (e.g., Myl2, Myh6, Mybpc3, and Actb), impaired intracellular Ca<sup>2+</sup> homeostasis (e.g., SERCA2a, Ryr2, Rcan1, and CaMKII delta), and signaling molecules for hypertrophic cardiomyopathy (e.g., Itga/b, IGF-1, Tgfb2/3, and Prkaa1/2). microRNA sequencing revealed that 15 microRNAs were differentially expressed (2-fold, P < 0.05).
|
30029588 |
2018 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy.
|
30170119 |
2018 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction.
|
30446606 |
2018 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation.
|
30316040 |
2018 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MYBPC3Δ25bp/D389V is associated with hyperdynamic features, which are an early finding in hypertrophic cardiomyopathy and thought to reflect an unfavorable energetic state.
|
29641836 |
2018 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
This multicenter multinational study shows lack of phenotypic differences between MYH7- and MYBPC3-associated hypertrophic cardiomyopathy when assessed by cardiac magnetic resonance imaging.
|
28193612 |
2017 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.
|
28658286 |
2017 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The Role of Cardiac Myosin Binding Protein C3 in Hypertrophic Cardiomyopathy-Progress and Novel Therapeutic Opportunities.
|
27731493 |
2017 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
MYBPC3 hypertrophic cardiomyopathy can be detected by using advanced ECG in children and young adults.
|
27061026 |
2017 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation.
|
28794111 |
2017 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Echocardiographic characterization of hypertrophic cardiomyopathy in Chinese patients with myosin-binding protein C3 mutations.
|
28450932 |
2017 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.
|
27737317 |
2016 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes.
|
27620334 |
2016 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hypertrophic cardiomyopathy genotyping revealed the common C to T substitution at coding nucleotide 1504 of MYBPC3, c1504C>T.
|
27177834 |
2016 |
|
Hypertrophic obstructive cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
AF occurred in 74 patients with HC (31%), with no difference among groups (31% in MYBPC3, 37% in MYH7 and 18% in other genotypes, p = 0.15), paroxysmal/persistent AF (12%, 18%, and 12%, respectively; p = 0.53), paroxysmal/persistent evolved to permanent (12%, 12%, and 3%, p = 0.36) or permanent AF (7%, 7%, and 3%, p = 0.82).
|
26869393 |
2016 |