|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
|
0.810 |
GeneticVariation
|
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)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
|
12531876 |
2003 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
|
21267010 |
2011 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
|
11815426 |
2002 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
|
9241277 |
1997 |
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
GeneticVariation
|
BEFREE |
We recently reported that introduction of an HCM-associated mutation in either inhibitory-peptide (cTnI(R146G)) or cardiac-specific N-terminus (cTnI(R21C)) of cTnI blunts the PKA-mediated modulation on myofibril activation/relaxation kinetics by prohibiting formation of intrasubunit contacts between these regions.
|
27150586 |
2016 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
CausalMutation
|
CLINVAR |
Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.
|
27557662 |
2016 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
CausalMutation
|
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 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
CausalMutation
|
CLINVAR |
Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.
|
20641121 |
2010 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
CausalMutation
|
CLINVAR |
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.
|
19651143 |
2009 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
CausalMutation
|
CLINVAR |
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
|
19035361 |
2009 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
CausalMutation
|
CLINVAR |
These results suggest that the phenotype of hypertrophic cardiomyopathy is most likely caused by the compensatory mechanisms in the cardiovascular system that are activated by 1) higher energy cost in the heart resulting from a significant decrease in average force per cross-bridge, 2) slowed relaxation (diastolic dysfunction) caused by prolonged [Ca(2+)] and force transients, and 3) an inability of the cardiac TnI to completely inhibit activation in the absence of Ca(2+) in Tg-R145G mice.
|
18430738 |
2008 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
CausalMutation
|
CLINVAR |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
|
18409188 |
2008 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
CausalMutation
|
CLINVAR |
Expression of cTnI-R145G affects shortening properties of adult rat cardiomyocytes.
|
18548271 |
2008 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
GeneticVariation
|
BEFREE |
These results suggest that the phenotype of hypertrophic cardiomyopathy is most likely caused by the compensatory mechanisms in the cardiovascular system that are activated by 1) higher energy cost in the heart resulting from a significant decrease in average force per cross-bridge, 2) slowed relaxation (diastolic dysfunction) caused by prolonged [Ca(2+)] and force transients, and 3) an inability of the cardiac TnI to completely inhibit activation in the absence of Ca(2+) in Tg-R145G mice.
|
18430738 |
2008 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
CausalMutation
|
CLINVAR |
Reduced peak current of L-type Ca(2+) channel in cells transduced with cTnI R146W might contribute to the disease-causing mechanism of this mutation in patients with hypertrophic cardiomyopathy.
|
18269819 |
2007 |
|
Hypertrophic Cardiomyopathy
|
|
0.740 |
CausalMutation
|
CLINVAR |
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
|
17932326 |
2007 |