×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
Biomarker
disease
HPO
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
Biomarker
disease
MGD
×
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
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
Biomarker
disease
BEFREE
In this review, cardiac troponin I , one of the sarcomeric thin filament protein, will be discussed regarding its role in cardiac function, its deficiency-related diastolic dysfunction, and the mutation of this protein-mediated restrictive cardiomyopathy .
15569399
2004
×
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
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
GeneticVariation
disease
BEFREE
The inability of the five cTnI mutations investigated to fully inhibit ATPase activity/force development and the generally larger increases in Ca2+ sensitivity than observed for most hypertrophic cardiomyopathy mutations would likely lead to severe diastolic dysfunction and may be the major physiological factors responsible for causing the restrictive cardiomyopathy phenotype in some of the genetically affected individuals.
15961398
2005
×
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
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
CausalMutation
disease
CLINVAR
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
16531415
2006
×
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
GeneticVariation
disease
BEFREE
Cardiac troponin I (cTnI ) mutations have been linked to the development of restrictive cardiomyopathy (RCM) in human patients.
17027633
2006
×
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
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
BEFREE
In contrast, mutations in only desmin and cardiac troponin T and I (TNNI3 ) have been shown to cause restrictive cardiomyopathy (RCM).
18006163
2009
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.700
GeneticVariation
disease
LHGDN
A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin.
18032382
2008
×
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
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
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
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
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
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
Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease.
20161772
2010