Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We focus on gene mutations in cardiac myosin binding protein-C, β-cardiac myosin heavy chain, cardiac troponin I, and cardiac troponin T, that comprise the majority of all HCM sarcomeric gene mutations.
|
30885674 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The combined measurements of serum apelin and MWT, as well as cTNI and MWT, showed higher predictive values for predicting myocardial fibrosis in patients with HCM.
|
31019180 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We sought to explore the associations between the presence of AF and circulating biomarkers reflecting cardiovascular function (N-terminal pro-brain natriuretic peptide, NT-pro BNP), endothelial function (big endothelin-1, big ET-1), inflammation (high-sensitivity C-reactive protein), and myocardial damage (cardiac troponin I, cTnI) in HCM patients with and without left ventricular outflow tract obstruction (LVOTO).In all, 375 consecutive HCM in-hospital patients were divided into an AF group (n = 90) and a sinus rhythm (SR) group (n = 285) according to their medical history and electrocardiogram results.In comparison with the SR group, peripheral concentrations of big ET-1, NT-pro BNP, and cTnI were significantly higher in patients with AF.
|
30626765 |
2019 |
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
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 |
A high proportion of stable hypertrophic cardiomyopathy (HCM) patients have elevated serum cardiac troponin I (cTnI), but its clinical and echocardiographic determinants are unknown.
|
28849602 |
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 |
CLINGEN |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression, ranging from restrictive cardiomyopathy (RCMP) to hypertrophic cardiomyopathy (HCMP) to near-normal phenotype.
|
28382084 |
2017 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
|
28790153 |
2017 |
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.
|
25940119 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
|
27600940 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The Ala161Asp mutation in TNNI3 was implicated in the pathogenesis of her HCM, though an association between HCM and SCA was not revealed.
|
27385602 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings showed that a double heterozygous mutation in the TNNI3 gene is involved in the pathogenesis of HCM via haploinsufficiency.
|
26506446 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.
|
27557662 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In summary, cTnI(P83S) has similar effects as other HCM-associated cTnI mutations on troponin and myofibril function even though it is in the I-T arm of cTnI.
|
27150586 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.
|
25940119 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We hypothesised that mutations in TNNI3 could underlie this particular phenotype, and we therefore screened TNNI3 for mutations in 115 HCM probands.
|
25940119 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
|
27600940 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population.
|
26169204 |
2016 |
Hypertrophic Cardiomyopathy
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
Dilated and hypertrophic cardiomyopathy mutations in troponin can blunt effects of protein kinase A (PKA) phosphorylation of cardiac troponin I (cTnI), decreasing myofilament Ca2+-sensitivity; however this effect has never been tested for restrictive cardiomyopathy (RCM) mutants.
|
25450489 |
2015 |
Hypertrophic Cardiomyopathy
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Herein, we set out to functionally characterize a novel HCM-associated mutation (K206I-TNNI3) and elucidate the mechanism of dysfunction at the level of myofilament proteins.
|
26553696 |
2015 |
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We investigated the effect of the hypertrophic cardiomyopathy-linked R21C (arginine to cysteine) mutation in human cardiac troponin I (cTnI) on the contractile properties and myofilament protein phosphorylation in papillary muscle preparations from left (LV) and right (RV) ventricles of homozygous R21C(+/+) knock-in mice.
|
25961037 |
2015 |