Restrictive cardiomyopathy
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Restrictive cardiomyopathy
|
0.700 |
Biomarker
|
disease |
MGD |
|
|
|
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 |
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 |
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 |
Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease.
|
20161772 |
2010 |
Restrictive cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
Restrictive cardiomyopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Dilated and hypertrophic cardiomyopathy mutations in troponin can blunt effects of protein kinase A (PKA) phosphorylation of cardiac troponin I (cTnI), decreasing myofilament Ca2+-sensitivity; however this effect has never been tested for restrictive cardiomyopathy (RCM) mutants.
|
25450489 |
2015 |
Restrictive cardiomyopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
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 |
Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy.
|
19449150 |
2009 |
Restrictive cardiomyopathy
|
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In this review, we highlight the use of acute genetic engineering of adult cardiac myocytes through stoichiometric replacement of sarcomeric proteins in these disease states with particular focus on cardiac troponin I. Stoichiometric replacement of disease causing mutations has been instrumental in defining the molecular mechanisms of hypertrophic and restrictive cardiomyopathy in a cellular context.
|
25125179 |
2014 |
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 |
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 |
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 |
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
|
17599605 |
2007 |