×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
AlteredExpression
disease
LHGDN
Alterations of tension-dependent ATP utilization in a transgenic rat model of hypertrophic cardiomyopathy.
16882671
2006
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
GeneticVariation
disease
LHGDN
F110I and R278C troponin T mutations that cause familial hypertrophic cardiomyopathy affect muscle contraction in transgenic mice and reconstituted human cardiac fibers.
16115869
2005
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
GeneticVariation
disease
LHGDN
The Delta 14 mutation of human cardiac troponin T enhances ATPase activity and alters the cooperative binding of S1-ADP to regulated actin.
15568820
2004
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
Biomarker
disease
LHGDN
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
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
CausalMutation
disease
CLINVAR
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
12860912
2003
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
Biomarker
disease
CTD_human
Familial hypertrophic cardiomyopathy-linked mutant troponin T causes stress-induced ventricular tachycardia and Ca2+-dependent action potential remodeling.
12600890
2003
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
GeneticVariation
disease
BEFREE
Mutations of the gene (TNNT2 ) encoding the thin-filament contractile protein cardiac troponin T are responsible for 15% of all cases of familial hypertrophic cardiomyopathy , the leading cause of sudden death in young athletes.
11967535
2002
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
GeneticVariation
disease
BEFREE
To date, only 13 different mutations in the cardiac troponin T (cTnT ) gene have been reported to cause HC .
11779518
2002
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
GeneticVariation
disease
LHGDN
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.
11857753
2002
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
CausalMutation
disease
CLINVAR
Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy.
11346248
2001
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
CausalMutation
disease
CLINVAR
Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.
11560853
2001
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
GeneticVariation
disease
BEFREE
Thus, the clinical features of HCM due to the Phe(110)-->Ile mutation in the cTnT gene appear to be modified by a gene dosage effect.
10965086
2000
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
Biomarker
disease
BEFREE
Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy : Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein.
10850966
2000
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
CausalMutation
disease
CLINVAR
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
10521296
1999
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
GeneticVariation
disease
BEFREE
Mutations in the human cardiac troponin T gene (TNNT2 ) are associated with familial hypertrophic cardiomyopathy (FHC) linked to chromosome 1q3 (CMH2 ).
9482583
1998
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
Biomarker
disease
BEFREE
A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy .
9637714
1998
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
CausalMutation
disease
CLINVAR
Sudden death due to troponin T mutations.
9060892
1997
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
Biomarker
disease
CTD_human
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
9241277
1997
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
GeneticVariation
disease
BEFREE
We have identified a novel missense mutation in exon 9 (Ala104Val ) of the cTnT gene in a patient with familial HCM .
9140840
1997
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
GeneticVariation
disease
BEFREE
Because mutational hot spots offer unique possibilities for analysis of genotype-phenotype correlations, new missense mutations that could define such hot spots in TNNT2 were looked for in unrelated French families with familial hypertrophic cardiomyopathy .
8989109
1996
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
CausalMutation
disease
CLINVAR
Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.
8951566
1996
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
0.500
GeneticVariation
disease
CLINVAR