|
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The Role of Cardiac Myosin Binding Protein C3 in Hypertrophic Cardiomyopathy-Progress and Novel Therapeutic Opportunities.
|
27731493 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.
|
28193612 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.
|
28971120 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.
|
29121657 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Likely pathogenic variants were found in three ARVC cases (12%) in PKP2, DSC2 or DSP, two DCM cases (20%) in MYH7, and four HCM cases (27%) in MYBPC3 (3) or MYH7 (1).
|
27000522 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This poorly understood variance raises the possibility of genetic modifier effects, particularly in MYBPC3-associated HCM.In a large consanguineous Chinese HCM family, we identified 8 members harboring the MYBPC3 c.3624delC (p.Lys1209Serfs) disease-causing mutation, but with very disparate phenotypes.
|
28614222 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.
|
27885498 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three hundred and eighty-seven consecutive unrelated patients with HCM were screened for genetic variants in the 5 most frequent genes (MYBPC3, MYH7, TNNT2, TNNI3 and TPM1) using Sanger sequencing (N = 84) or NGS (N = 303).
|
28771489 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
|
28356264 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
|
28771489 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.
|
28679633 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study.
|
28241245 |
2017 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.
|
29255176 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.
|
28658286 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
In children and young adults, a 2-parameter 12-lead A-ECG score is retrospectively significantly more sensitive and specific than pooled, age-specific conventional ECG criteria for detecting MYBPC3-HCM and in distinguishing such patients from healthy controls, including endurance-trained athletes.
|
27061026 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.
|
28420666 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
This multicenter multinational study shows lack of phenotypic differences between MYH7- and MYBPC3-associated hypertrophic cardiomyopathy when assessed by cardiac magnetic resonance imaging.
|
28193612 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy.
|
28538763 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.
|
28679633 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene MYBPC3 coding for cardiac myosin-binding protein-C (cMyBP-C), a multi-domain protein, are the most common cause of hypertrophic cardiomyopathy (HCM).
|
27267291 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among the double heterozygotes for mutations in desmoplakin (DSP) and myosin binding protein C (MYBPC3) genes identified in Family A, two were diagnosed with ACM and two with HCM.
|
28699631 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
Biomarker
|
disease |
CTD_human |
Epigallocatechin-3-Gallate Accelerates Relaxation and Ca2+ Transient Decay and Desensitizes Myofilaments in Healthy and Mybpc3-Targeted Knock-in Cardiomyopathic Mice.
|
27994558 |
2016 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.
|
27737317 |
2016 |
|
Hypertrophic Cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.
|
27834932 |
2016 |