rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
|
23539503 |
2013 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.
|
23663841 |
2013 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model.
|
23383212 |
2013 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.
|
20978592 |
2010 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins.
|
20079745 |
2010 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
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 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.
|
15623536 |
2005 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Different functional properties of troponin T mutants that cause dilated cardiomyopathy.
|
12923187 |
2003 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.
|
11773635 |
2002 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy.
|
12186860 |
2002 |
rs45578238
|
|
Cardiomyopathy, Familial Hypertrophic, 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
|
11106718 |
2000 |