×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy.
19449150
2009
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.
19289050
2009
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development.
15961398
2005
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
12531876
2003
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
AlteredExpression
disease
LHGDN
Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development.
15961398
2005
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI.
18408133
2008
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
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
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease.
20161772
2010
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
20800588
2010
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
Biomarker
disease
HPO
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
GeneticVariation
disease
BEFREE
Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression, ranging from restrictive cardiomyopathy (RCMP ) to hypertrophic cardiomyopathy (HCMP) to near-normal phenotype.
28382084
2017
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
22675533
2012
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling.
17463320
2007
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
GeneticVariation
disease
BEFREE
Six missense mutations in human cardiac troponin I (cTnI ) were recently found to cause restrictive cardiomyopathy (RCM).
16288990
2005
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice.
17027633
2006
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
20031618
2009
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
17599605
2007
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
Biomarker
disease
MGD
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
GeneticVariation
disease
CLINVAR
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
20031618
2009
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
CausalMutation
disease
CLINVAR
[Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy].
23906401
2013
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
GeneticVariation
disease
LHGDN
Six missense mutations in human cardiac troponin I (cTnI) were recently found to cause restrictive cardiomyopathy (RCM).
16288990
2005
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
AlteredExpression
disease
BEFREE
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
12531876
2003
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
Biomarker
disease
CTD_human
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
12531876
2003
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
GeneticVariation
disease
BEFREE
Functional effects of a restrictive-cardiomyopathy -linked cardiac troponin I mutation (R145W ) in transgenic mice.
19651143
2009
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
GeneticVariation
disease
BEFREE
Several cardiac troponin I (cTnI ) mutations are associated with restrictive cardiomyopathy (RCM) in humans.
20580639
2010