Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigate MYBPC3 complete deletion as a disease mechanism in HCM by analyzing two unrelated patients with confirmed diagnosis of HCM that tested negative by Sanger sequencing analysis.
|
31568709 |
2020 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to explore novel genotype-phenotype correlations in HCM patients with the variants in ACTC1 and myosin-binding protein (MYBPC3) genes in three unrelated Chinese families.
|
30600190 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the coding regions of MYBPC3 and MYH7 revealed 21 variants, of which the MYH7 c.5647G>A (p.(Glu1883Lys)) variant was further analysed, because its orthologous variant had already been reported in a human patient with HCM, but with limited causal evidence.
|
31164718 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We used wild-type, heterozygous and homozygous hearts (n = 56) from a Mybpc3-targeted knock-out HCM mouse model and imaged the 3D micro-structure by high-resolution episcopic microscopy.
|
31347708 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X mutation.
|
30976029 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our study indicates that proliferation of the microtubular network may represent a novel pathomechanism in cMyBP-C haploinsufficiency-mediated HCM.
|
31323898 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found 29 rare MYBPC3 splice-site variants in 56 of 557 (10%) unrelated HCM probands.
|
30645170 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Nine rare variants in 5 HCM-related genes (MYBPC3, MYH7, MYH6, PRKAG2, and CAV3) were found in 8 of 9 cases with myocyte disarray of >5%.
|
30959811 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study suggests that deep MYBPC3 splice mutations account for a significant proportion of HCM cases (6.5% of this cohort).
|
31730716 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We will summarize recent technological advances and their implication as gene therapy options in HCM with a special focus on treating MYBPC3 mutations and its potential for being a successful bench to bedside example.
|
29971600 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Myocardial deoxygenation during stress is observed in MYBPC3 HCM patients, even in the presence of normal LV diastolic function, LV global longitudinal strain, and LV wall thickness.
|
30668650 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A custom next-generation sequencing (NGS) technology for the HCM panel allowed us to identify compound heterozygous mutations in the MYBPC3 gene, confirming NGS as a molecular diagnostic tool.
|
30896616 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cox regression identified male gender, family history of SCD, and pathogenic variants in MYH7/MYBPC3 as a predictor of early onset HCM and MaCEs.
|
31170284 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy.
|
30550750 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy.
|
30456444 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our aim is to characterize predicted protein-truncating variants (PTVs) in MYBPC3, the gene most commonly associated with hypertrophic cardiomyopathy (HCM), found in a series of autopsied HCM cases after sudden unexpected cardiac death.
|
30282064 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
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 Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here we compared the effect of phosphomimetic (D282) and wild-type (S282) cMyBP-C gene transfer on the HCM phenotype of engineered heart tissues (EHTs) generated from a mouse model carrying a Mybpc3 mutation (KI).
|
31796859 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
NCCM with HCM (4%) was associated with MYBPC3 and HCM without NCCM in relatives (p < 0.001).
|
30947911 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We studied 140 carriers (G+) of the TPM1-Asp175Asn or MYBPC3-Gln1061X pathogenic variants for HCM: The G+/LVH+ group (n = 98) consisted of mutation carriers with LVH and the G+/LVH- group (n = 42) without LVH.
|
30497761 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The mRNA expression levels of MYBPC3 were significantly reduced in mutant iPSC-CMs, but the protein levels were comparable among isogenic iPSC-CMs, suggesting that haploinsufficiency of MYBPC3 does not contribute to the pathogenesis of HCM in vitro.
|
30586709 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Expression of cMyBP-C protein with a modified C10 domain is sufficient to cause contractile dysfunction and HCM in vivo.
|
31050699 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction.
|
30446606 |
2018 |
Hypertrophic Cardiomyopathy
|
0.700 |
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 Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Twelve HCM patients were included (six had no sarcomere mutations (HCM<sub>smn</sub>) and served as the control group and six harbored mutations in the MYBPC3 gene (MYBPC3<sub>mut</sub>).
|
30170119 |
2018 |