rs104894724
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy (HCM)-associated mutant cardiac troponin I (cTnIR145G; R146G in rodents) has been postulated to be an underlying cause of hypertrophic growth and premature sudden death in humans and in animal models of the disease.
|
12242271 |
2002 |
rs104894724
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We recently reported that introduction of an HCM-associated mutation in either inhibitory-peptide (cTnI(R146G)) or cardiac-specific N-terminus (cTnI(R21C)) of cTnI blunts the PKA-mediated modulation on myofibril activation/relaxation kinetics by prohibiting formation of intrasubunit contacts between these regions.
|
27150586 |
2016 |
rs104894724
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occurred de novo, thus strongly suggesting that cTnI is the seventh HCM gene.
|
9241277 |
1997 |
rs104894724
|
|
|
0.740 |
GeneticVariation |
BEFREE |
These results suggest that the phenotype of hypertrophic cardiomyopathy is most likely caused by the compensatory mechanisms in the cardiovascular system that are activated by 1) higher energy cost in the heart resulting from a significant decrease in average force per cross-bridge, 2) slowed relaxation (diastolic dysfunction) caused by prolonged [Ca(2+)] and force transients, and 3) an inability of the cardiac TnI to completely inhibit activation in the absence of Ca(2+) in Tg-R145G mice.
|
18430738 |
2008 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out.
|
15961398 |
2005 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
|
18409188 |
2008 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.
|
19651143 |
2009 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy.
|
16288990 |
2005 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
|
15607392 |
2004 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Reduced peak current of L-type Ca(2+) channel in cells transduced with cTnI R146W might contribute to the disease-causing mechanism of this mutation in patients with hypertrophic cardiomyopathy.
|
18269819 |
2007 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I.
|
16020591 |
2005 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China.
|
15992656 |
2005 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
|
19035361 |
2009 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.
|
21533915 |
2011 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy.
|
12746413 |
2003 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.
|
27557662 |
2016 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
|
17599605 |
2007 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
These results suggest that the phenotype of hypertrophic cardiomyopathy is most likely caused by the compensatory mechanisms in the cardiovascular system that are activated by 1) higher energy cost in the heart resulting from a significant decrease in average force per cross-bridge, 2) slowed relaxation (diastolic dysfunction) caused by prolonged [Ca(2+)] and force transients, and 3) an inability of the cardiac TnI to completely inhibit activation in the absence of Ca(2+) in Tg-R145G mice.
|
18430738 |
2008 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Effects of T142 phosphorylation and mutation R145G on the interaction of the inhibitory region of human cardiac troponin I with the C-domain of human cardiac troponin C.
|
12044157 |
2002 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
The role of electrostatics in the interaction of the inhibitory region of troponin I with troponin C.
|
16274223 |
2005 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
|
10806205 |
2000 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
|
9241277 |
1997 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Calpain-1-dependent degradation of troponin I mutants found in familial hypertrophic cardiomyopathy.
|
14575308 |
2003 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Expression of cTnI-R145G affects shortening properties of adult rat cardiomyocytes.
|
18548271 |
2008 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Effect of Arg145Gly mutation in human cardiac troponin I on the ATPase activity of cardiac myofibrils.
|
10731705 |
2000 |