Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).
|
12473556 |
2002 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The DeltaGlu160 mutation was observed in a sequence of the TNNT2 gene in a patient with the severe form of hypertrophic cardiomyopathy.
|
16538283 |
2006 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action.
|
8958207 |
1996 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, the prognosis of individuals bearing the TNNT2 mutation with familial HCM should be more carefully observed from birth.
|
23494605 |
2013 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The multiple ligation-dependent probe amplification method was used to screen for large deletions and duplications in the myosin-binding protein-C (MYBPC3) and cardiac troponin T (TNNT2) genes in patients with HCM.
|
19666196 |
2010 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Direct gene sequencing of β-myosin heavy chain (MYH7), myosin binding protein-C (MYBPC3), and cardiac troponin T (TNNT2) was performed in 136 unrelated Chinese HC patients.Clinical evaluations were conducted.
|
23711808 |
2013 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This period of hypertrophically silent HCM also coincided with the years in which most sudden cardiac deaths occurred, particularly in male R92W(TNNT2) carriers.
|
17612745 |
2008 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results suggested that MYH7 and MYBPC3 were the predominant genes responsible for HCM, and TNNT2 mutation less proportionally contributed to Chinese HCM.
|
15563892 |
2005 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We found a five-basepair insertion/deletion polymorphism in intron 3 of TNNT2, one of the genes responsible for hypertrophic cardiomyopathy.
|
14986170 |
2004 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thirty-eight HCM index patients (mean age 60±16 years) underwent systematic mutation screening of eight sarcomeric genes: β-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), troponin T (TNNT2), troponin I (TNNI3), myosin ventricular regulatory light chain 2 (MYL2), myosin ventricular essential light chain 1 (MYL3), α-tropomyosin (TPM1), and cardiac α-actin (ACTC), using direct DNA sequencing.
|
25086479 |
2015 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We designed morpholino antisense oligonucleotides targeting the exon 13 splice donor site in the zebrafish cardiac troponin T (tnnt2) gene, in order to precisely recapitulate a human TNNT2 mutation that causes hypertrophic cardiomyopathy (HCM).
|
21245263 |
2011 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
|
24093860 |
2013 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have previously generated transgenic Sprague-Dawley rats overexpressing a truncated cardiac troponin T (DEL-TNT) molecule, displaying typical features of HCM such as diastolic dysfunction and an increased susceptibility to ventricular arrhythmias.
|
19189074 |
2009 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most of the variants were in MYH7 or MYPBC3 for HCM and TNNT2 or TNNI3 for RCM.
|
29907873 |
2018 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The first comprehensive evaluation of MYBPC3, MYH7 and TNNT2 in an Italian HCM population allowed a genetic diagnosis in 57% of the patients.
|
16858239 |
2006 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We sequenced exons 8, 9, 13-16, 19, 20, 22-24, and 30 of the MYH7 gene and exons 8, 9, 11, and 14-16 of the TNNT2 gene in 30 HC patients (18-60 years of age) from the region of Asturias (Northern Spain); 25 cases (80%) had a family history of the disease.
|
12881443 |
2003 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
In contrast, TNNT2-HCM was associated with favorable prognosis.
|
19645627 |
2009 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
An Affymetrix resequencing array and a single long-range PCR protocol were developed to cover the 3 most commonly affected genes in HCM, MYH7 (myosin, heavy chain 7, cardiac muscle, beta), MYBPC3 (myosin binding protein C, cardiac), and TNNT2 [troponin T type 2 (cardiac)].
|
18258667 |
2008 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
To investigate mutations in the sarcomeric genes MYH7, MYBPC3 and TNNT2 in a cohort of HCM patients living in the extreme south of Brazil, and to evaluate genotype-phenotype associations.
|
27737317 |
2016 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Peripheral blood samples were collected from: (i) seven subjects with a clinical diagnosis of HCM, all bearing known mutations previously identified by dideoxy sequencing and thus being used as blinded samples (sample type 1); (ii) one individual with a clinical diagnosis of HCM negative for mutations after dideoxy sequencing of the five most common HCM genes, MYH7, MYBPC3, TNNI3, TNNT2 and MYL2 (sample type 2); and (iii) five individuals individual with a clinical diagnosis of HCM who had not previously been genetically studied (sample type 3).
|
21425739 |
2011 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genotyping showed a heterozygous mis-sense mutation (275G>A) in the cardiac troponin T (TNNT2) gene, which is causally associated with HCM.
|
19087273 |
2008 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The missense mutations in TNNT2 are responsible for 15%-20% of familial HCM by impairing the function of the heart muscle.
|
22017532 |
2012 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and identified three mutations in patients from four families (3.1%): the Phe87Leu mutation, which has not been previously reported, the Arg278Cys mutation (two families) and the Asp271Ile mutation.
|
20038417 |
2009 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Five hundred fifty-two unrelated hypertrophic cardiomyopathy probands were screened for TNNT2 mutations.
|
22144547 |
2012 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Seven single nucleotide polymorphisms and haplotypes in MYBPH were investigated for hypertrophy modifying effects in 388 individuals (27 families), in which three unique South African HCM-causing founder mutations (p.R403W and pA797T in β-myosin heavy chain gene (MYH7) and p.R92W in the cardiac troponin T gene (TNNT2)) segregate.
|
26969327 |
2016 |