|
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
|
|
|
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
|
|
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
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.
|
20641121 |
2010 |
|
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 |
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 |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
|
18409188 |
2008 |
|
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 |
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
|
|
|
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 |
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
|
17599605 |
2007 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
|
17932326 |
2007 |
|
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
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
|
16531415 |
2006 |
|
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
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils.
|
15718266 |
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 |
Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I.
|
16020591 |
2005 |
|
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
|
|
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
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
|
15607392 |
2004 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Calpain-1-dependent degradation of troponin I mutants found in familial hypertrophic cardiomyopathy.
|
14575308 |
2003 |
|
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
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.
|
11853553 |
2002 |
|
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy.
|
11801593 |
2002 |