rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
0.710
GeneticVariation
BEFREE
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
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
0.020
GeneticVariation
BEFREE
Functional effects of a restrictive-cardiomyopathy -linked cardiac troponin I mutation (R145W ) in transgenic mice.
19651143
2009
rs104894724
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
0.020
GeneticVariation
BEFREE
These perturbed biophysical and biochemical myofilament properties are likely to significantly contribute to the diastolic cardiac pump dysfunction that is seen in patients suffering from a restrictive cardiomyopathy that is associated with the cTnI R145W mutation.
27557662
2016
rs770640091
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
0.010
GeneticVariation
BEFREE
We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]).
27604170
2016
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H , in cardiac TnI.
18408133
2008
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
16531415
2006
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
22675533
2012
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.
19289050
2009
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
12531876
2003
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
CausalMutation
CLINVAR
[Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy].
23906401
2013
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease.
20161772
2010
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
CausalMutation
CLINVAR
A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice.
17027633
2006
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy.
19449150
2009
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling.
17463320
2007
rs104894729
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.710
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
rs727503499
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
A
0.700
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
rs727503499
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
20800588
2010
rs727503503
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
20031618
2009
rs727503503
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
17599605
2007
rs727503504
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
A
0.700
GeneticVariation
CLINVAR
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
20031618
2009
rs730880231
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
Restrictive cardiomyopathy
G
0.700
CausalMutation
CLINVAR