Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
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
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.
|
16115294 |
2005 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
|
17932326 |
2007 |
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 |
CLINGEN |
Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy.
|
10449439 |
1999 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
Hypertrophic Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
|
11606294 |
2001 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
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
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
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 |
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.
|
18029407 |
2008 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hypertrophic cardiomyopathy--molecular genetic analysis of exons 9 and 11 of the TNNT2 gene in Czech patients.
|
16538283 |
2006 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in sarcomere protein genes in left ventricular noncompaction.
|
18506004 |
2008 |
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 |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
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
|
0.800 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
CLINVAR |
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
|
12860912 |
2003 |
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 |
Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T.
|
11158969 |
2001 |
Hypertrophic Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
|
14654368 |
2003 |