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 |
GeneticVariation
|
disease |
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 |
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 |
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 |
[Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy].
|
23906401 |
2013 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Several cardiac troponin I (cTnI) mutations are associated with restrictive cardiomyopathy (RCM) in humans.
|
20580639 |
2010 |
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 |
CausalMutation
|
disease |
CLINVAR |
Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.
|
19289050 |
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 |
GeneticVariation
|
disease |
BEFREE |
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.
|
19651143 |
2009 |
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 |
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 |
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 |
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 |
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 |
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 |