|
Hypertrophic Cardiomyopathy
|
|
0.710 |
GeneticVariation
|
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
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy.
|
23494605 |
2013 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT.
|
22579624 |
2012 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.
|
22334656 |
2012 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
[Novel mutations of cardiac troponin T in Chinese patients with hypertrophic cardiomyopathy].
|
22321274 |
2011 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
[Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].
|
20414521 |
2010 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.
|
19880069 |
2009 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.
|
18029407 |
2008 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression.
|
17612745 |
2008 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.
|
16115294 |
2005 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice.
|
16326803 |
2005 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction.
|
14722098 |
2004 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Autopsy findings in siblings with hypertrophic cardiomyopathy caused by Arg92Trp mutation in the cardiac troponin T gene showing dilated cardiomyopathy-like features.
|
14640471 |
2003 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
|
12860912 |
2003 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.
|
11968089 |
2002 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.
|
12084606 |
2002 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy.
|
11346248 |
2001 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
|
11606294 |
2001 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.
|
11560853 |
2001 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
|
10521296 |
1999 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Sudden death due to troponin T mutations.
|
9060892 |
1997 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.
|
8951566 |
1996 |