|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
The gene coding for cardiac MyBP-C has been assigned to the chromosomal location 11p11.2 in humans, and is therefore in a region of physical linkage to subsets of familial hypertrophic cardiomyopathy (FHC).
|
7744002 |
1995 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
|
15114369 |
2004 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy.
|
29524613 |
2018 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding cardiac MyBP-C (MYBPC3) in humans is located on chromosome 11p11.2, and mutations have been identified in this gene in unrelated families with familial hypertrophic cardiomyopathy (FHC).
|
9048664 |
1997 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PKA treatment increased phosphorylation of PKA-targets in HCM myocardium and normalized length-dependent activation to donor values in sarcomere mutation-negative HCM and HCM with truncating MYBPC3 mutations but not in HCM with missense mutations.
|
23508784 |
2013 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed a myosin binding protein C3 mutation, which is reportedly responsible for familial hypertrophic cardiomyopathy.
|
22560514 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition to these mutations a 25-bp deletion in intron 32 of MYBPC3 was identified in family MM (five carriers) and in a fourth family (MiR, one HCM patient, three deletion carriers).
|
12788380 |
2003 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated whether protein composition and function of the sarcomere are altered in a homogeneous familial hypertrophic cardiomyopathy patient group with frameshift mutations in MYBPC3 (MYBPC3(mut)).
|
19273718 |
2009 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The gene involved in familial hypertrophic cardiomyopathy on chromosome 11 was recently identified as the cardiac myosin binding protein-C (MyBP-C) gene.
|
9503187 |
1998 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Little information is available on phenotype-genotype correlations in familial hypertrophic cardiomyopathy that are related to the cardiac myosin binding protein C (MYBPC3) gene.
|
9631872 |
1998 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Most cardiac myosin binding protein C (cMyBP-C) gene mutations causing familial hypertrophic cardiomyopathy (FHC) result in C-terminal truncated proteins.
|
15769446 |
2005 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
We will subsequently focus on the roles allelic imbalance and haploinsufficiency play within MYBPC3-linked HCM.
|
30456444 |
2019 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.
|
10610770 |
1999 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This region contained the MYBPC3 gene, which has previously been associated with autosomal dominant adult-onset HCM.
|
18467358 |
2008 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present review we discuss changes in phosphorylation of the thick filament protein myosin binding protein C (cMyBP-C) reported in failing myocardium, with emphasis on phosphorylation changes observed in familial hypertrophic cardiomyopathy caused by mutations in MYBPC3.
|
22127559 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.
|
18929575 |
2008 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
|
21551322 |
2011 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
|
23782526 |
2013 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging.
|
20439259 |
2010 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.
|
18337725 |
2008 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.
|
28971120 |
2017 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
|
22267749 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
|
27600940 |
2016 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
|
21302287 |
2011 |