Restrictive cardiomyopathy
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Restrictive cardiomyopathy
|
0.700 |
Biomarker
|
disease |
MGD |
|
|
|
Restrictive cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
|
12531876 |
2003 |
Restrictive cardiomyopathy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
|
12531876 |
2003 |
Restrictive cardiomyopathy
|
0.700 |
Biomarker
|
disease |
CTD_human |
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
|
12531876 |
2003 |
Restrictive cardiomyopathy
|
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 |
Restrictive cardiomyopathy
|
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 |
Restrictive cardiomyopathy
|
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 |
Restrictive cardiomyopathy
|
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 |
Restrictive cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Six missense mutations in human cardiac troponin I (cTnI) were recently found to cause restrictive cardiomyopathy (RCM).
|
16288990 |
2005 |
Restrictive cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Six missense mutations in human cardiac troponin I (cTnI) were recently found to cause restrictive cardiomyopathy (RCM).
|
16288990 |
2005 |
Restrictive cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
|
16531415 |
2006 |
Restrictive cardiomyopathy
|
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 |
Restrictive cardiomyopathy
|
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 |
Restrictive cardiomyopathy
|
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 |
Restrictive cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
|
17599605 |
2007 |
Restrictive cardiomyopathy
|
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 |
Restrictive cardiomyopathy
|
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 |
Restrictive cardiomyopathy
|
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 |
Restrictive cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.
|
19289050 |
2009 |
Restrictive cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy.
|
19449150 |
2009 |
Restrictive cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.
|
19651143 |
2009 |
Restrictive cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
Restrictive cardiomyopathy
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
Restrictive cardiomyopathy
|
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 |