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 |
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 |
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
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 |
GeneticVariation
|
disease |
BEFREE |
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.
|
19651143 |
2009 |
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 |
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 |
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 |
Cardiac troponin I (cTnI) mutations have been linked to the development of restrictive cardiomyopathy (RCM) in human patients.
|
17027633 |
2006 |
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 |
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 |
Biomarker
|
disease |
HPO |
|
|
|
Restrictive cardiomyopathy
|
0.700 |
Biomarker
|
disease |
MGD |
|
|
|
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 |
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 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
|
12531876 |
2003 |
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 |
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 |
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 |
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 |