|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MYBPC3 mutations have been described in dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).
|
29493010 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two families with HCM presenting during adolescence (age of onset is about 11 years old) demonstrated compound heterozygous mutations in the MYBPC3 gene.
|
29524613 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy.
|
29663722 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of full-length MYBPC3 and disruption of proteostasis have both been proposed as central to HCM disease pathogenesis.
|
29875314 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.
|
30165862 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As expected, this molecular approach led to identify most pathogenic or likely pathogenic variants into prevalent HCM-causing genes: MYBPC3 (123/542; 22.7%), MYH7 (48/542; 8.9%), TNNT2 (12/542; 2.2%), and TNNI3 (10/542; 1.8%).
|
30012424 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
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 Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
To understand the disease mechanism behind HCM in a better way, we generated patient-specific induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from HCM patients carrying either the <i>MYBPC3-Gln1061X</i> or <i>TPM1-Asp175Asn</i> mutation.
|
29361520 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MYH7 and/or MYBPC3 variants comprised 76% of HCM-associated variants, whereas troponin complex-encoding genes comprised 75% of the RCM-associated variants.
|
29907873 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
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 Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.
|
28615295 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study shows the effect of a MYBPC3 compound variant on the phenotypic HCM expression.
|
28538763 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.
|
28193612 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Myofibrillar protein expression was normal except that we observed 20-44% MyBP-C haploinsufficiency in 5 of the HCM cats.
|
28642712 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the effect of mutations in the cMyBP-C gene (MYBPC3) using samples from human patients with hypertrophic cardiomyopathy (HCM).
|
28658286 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
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 Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Myosin-binding protein C3 (<i>MyBPC3</i>) gene mutations are the most common genetic cause of HCM.
|
28450932 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Uncomplicated Pregnancy in a Patient Treated With Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy.
|
28024942 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In contrast, gene replacement with the full-length MYBPC3 cDNA resulted in ∼2.5-fold higher MYBPC3 mRNA levels in HCM and control hiPSC-CMs.
|
28624223 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MYBPC3 and MYH7 mutations contributed to 50.0% and 24.4% of the HCM patients, respectively, suggesting that MYBPC3 mutations were the most frequent cause of HCM in our cohort.
|
29121657 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
|
28790153 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.
|
28797094 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
In the present study we evaluated whether diltiazem could ameliorate or reverse the disease phenotype in cells and in vivo in an Mybpc3-targeted knock-in (KI) mouse model of HCM.
|
28090637 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MYBPC3 are the cause of hypertrophic cardiomyopathy (HCM).
|
28029522 |
2017 |