|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
|
30681346 |
2019 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Most of the variants were in MYH7 or MYPBC3 for HCM and TNNT2 or TNNI3 for RCM.
|
29907873 |
2018 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Structure investigation showed that the C terminus of TNNI3 was flexible and mutation on the C terminus was possible to cause the RCM.
|
29176140 |
2017 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the RCM-associated cTnI R145W mutation induces a permanent structural state that is similar to, but more extensive than, that induced by PKC-mediated phosphorylation of cTnI Thr-143.
|
27557662 |
2016 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study provides information regarding TNNI3 mutations underlying RCM in contrast to other causes of a similar presentation, such as constrictive pericarditis or infiltration of cardiac muscle, all with marked right-sided cardiac manifestations.
|
25940119 |
2016 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
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 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.
|
22876777 |
2012 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
|
21511876 |
2011 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of dilated cardiomyopathy.
|
20186049 |
2010 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
The results demonstrate that myofibril hypersensitivity to Ca(2+) is a key mechanism that causes impaired relaxation in RCM cTnI mutant hearts and Ca(2+) desensitization by cTnI-ND can correct diastolic dysfunction and rescue the RCM phenotypes, suggesting that Ca(2+) desensitization in myofibrils is a therapeutic option for treatment of diastolic dysfunction without interventions directed at the systemic beta-adrenergic-PKA pathways.
|
20580639 |
2010 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
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 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cardiac troponin I (cTnI) mutations have been linked to the development of restrictive cardiomyopathy (RCM) in human patients.
|
17027633 |
2006 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The present study also suggests that both HCM and RCM involving cTnI mutations share a common feature of increased Ca2+ sensitivity of cardiac myofilament, but more severe change in Ca2+ sensitivity is associated with the clinical phenotype of RCM.
|
16288990 |
2005 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.
|
15698845 |
2005 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
|
15607392 |
2004 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
To determine if idiopathic RCM is part of the clinical expression of TNNI3 mutations, genetic investigations of the gene were performed in an additional nine unrelated RCM patients with restrictive filling patterns, bi-atrial dilatation, normal systolic function, and normal wall thickness.
|
12531876 |
2003 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
|
12531876 |
2003 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
|
12860912 |
2003 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|