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 |
CLINGEN |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular mechanisms and structural features of cardiomyopathy-causing troponin T mutants in the tropomyosin overlap region.
|
28973951 |
2017 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Hypertrophic Cardiomyopathy Without Ventricular Hypertrophy: Usefulness of Genetic and Pathological Study in Preventing Sudden Death.
|
28073646 |
2017 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.
|
28420666 |
2017 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models.
|
28735292 |
2017 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype.
|
27721798 |
2016 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
|
26507537 |
2016 |
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 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.
|
24691700 |
2015 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.
|
24367593 |
2013 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder resulting from mutations in genes for at least 15 various sarcomere-related proteins including cardiac β-myosin heavy chain, cardiac myosin-binding protein C, and cardiac troponin T. The troponin T gene (TNNT2) mutation has the third incidence of familial HCM, and the genotype-phenotype correlation of this gene still remains insufficient in Japanese familial HCM.
|
23494605 |
2013 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
|
23539503 |
2013 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
Hypertrophic Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
|
24093860 |
2013 |