Cardiomyopathies
|
0.700 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Cardiomyopathies
|
0.700 |
CausalMutation
|
group |
CLINVAR |
|
|
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
MYBPC3 Δ25bp has been linked to cardiomyopathy and heart failure.
|
29641836 |
2018 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CTD_human |
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
|
19151713 |
2009 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
LHGDN |
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
|
19151713 |
2009 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
A founder mutation arising at about the 10th century in the MYBPC3 gene accounts for 8.4% of all HCM in center east France and results in a cardiomyopathy starting late and evolving slowly but with an apparent risk of sudden death similar to other sarcomeric mutations.
|
23140321 |
2012 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Among the most prevalent of these are mutations that affect thick filament binding proteins, including the myosin essential and regulatory light chains and cardiac myosin binding protein (cMyBP)-C. However, despite the frequency with which myosin binding proteins, especially cMyBP-C, have been linked to inherited cardiomyopathies, the functional consequences of mutations in these proteins and the mechanisms by which they cause disease are still only partly understood.
|
21415409 |
2011 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
An intronic 25-bp deletion in MYBPC3 at 3' region is associated with dilated (DCM) and hypertrophic (HCM) cardiomyopathies in Southeast Asia.
|
21915287 |
2011 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Based on the score analysis, we detected three substitutions in the MYBPC3 and CASQ2 genes and six combinations between loci in the MYBPC3, MYH7 and CASQ2 genes that were responsible for cardiomyopathy risk in our cohorts.
|
25892673 |
2015 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Compared with patients with variation in other sarcomeric genes, those with MYH7 variants were younger on first clinical encounter at the Sarcomeric Human Cardiomyopathy Registry site and more likely to be probands than the MYBPC3 variants.
|
30354366 |
2018 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Diltiazem prevents stress-induced contractile deficits in cardiomyocytes, but does not reverse the cardiomyopathy phenotype in Mybpc3-knock-in mice.
|
28090637 |
2017 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Finally, in patient 4 with LQTS a known missense variant was found in MYBPC3, which is usually mutated in patients with cardiomyopathy.
|
23590259 |
2014 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
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 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Here, we present three cases carrying a loss-of-function (LoF) variant in a compound heterozygous state with a missense variant in either MYH7 or MYBPC3 leading to severe cardiomyopathy with left ventricular noncompaction.
|
30924982 |
2019 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Importantly, recent advances to causally treat HCM by repairing MYBPC3 mutations by gene therapy are discussed here, providing a promising alternative to heart transplantation for patients with a fatal form of neonatal cardiomyopathy due to bi-allelic truncating MYBPC3 mutations.
|
26358504 |
2015 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In addition, the cardiomyopathy related MYH6-A1004S and the MYBPC3-A833T mutations were also found in one and two unrelated subjects with ASDII, respectively.
|
22194935 |
2011 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In contrast to heterozygous pathogenic mutations, homozygous or compound heterozygous truncating pathogenic MYBPC3 mutations cause severe neonatal cardiomyopathy with features of left ventricular noncompaction and septal defects in approximately 60% of patients.
|
25335496 |
2015 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In the present study, the entire coding sequences and flanking regions of 12 major disease (cardiomyopathy)-related genes [namely myosin, heavy chain 7, cardiac muscle, β (MYH7); myosin binding protein C, cardiac (MYBPC3); lamin A/C (LMNA); troponin I type 3 (cardiac) (TNNI3); troponin T type 2 (cardiac) (TNNT2); actin, α, cardiac muscle 1 (ACTC1); tropomyosin 1 (α) (TPM1); sodium channel, voltage gated, type V alpha subunit (SCN5A); myosin, light chain 2, regulatory, cardiac, slow (MYL2); myosin, heavy chain 6, cardiac muscle, α (MYH6); myosin, light chain 3, alkali, ventricular, skeletal, slow (MYL3); and protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2)] in 8 patients with dilated cardiomyopathy (DCM) and in 8 patients with hypertrophic cardiomyopathy (HCM) were amplified and then sequenced using the Ion Torrent Personal Genome Machine (PGM) system.
|
27082122 |
2016 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations occurred predominantly (in >75% of the children) in MYH7 and MYBPC3; significantly more MYBPC3 missense mutations were detected than occur in adult-onset cardiomyopathy (P<0.005).
|
18403758 |
2008 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Other studies have reported neonatal presentation of cardiomyopathies associated with compound heterozygous or homozygous MYBPC3 mutations.
|
24602869 |
2014 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Our results demonstrate that haploinsufficiency resulting from MYBPC3 complete deletion, potentially mediated by Alu recombination, is an important disease mechanism in cardiomyopathy and emphasizes the importance of copy number variation analysis in patients clinically suspected of HCM.
|
31568709 |
2020 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in mice.
|
23716398 |
2013 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
This homozygous block contained MYBPC3, a previously identified cardiomyopathy related gene.
|
17937428 |
2007 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
To determine whether oxidative stress markers were elevated in MYBPC3-mutated cardiomyopathies, a previously characterized 3-month-old mouse model of dilated cardiomyopathy (DCM) expressing a homozygous MYBPC3 mutation (cMyBP-C((t/t))) was used, compared to wild-type (WT) mice.
|
26508994 |
2015 |