|
rs267607125
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We used a murine model of hypertrophic cardiomyopathy (HCM) harboring a cardiac troponin C (cTnC) Ca<sup>2+</sup>-sensitizing mutation, Ala8Val in the regulatory N-domain.
|
30138628 |
2018 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.
|
28473771 |
2017 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations.
|
28533433 |
2017 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.
|
27604170 |
2016 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C.
|
26976709 |
2016 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene.
|
26304555 |
2015 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C.
|
23425245 |
2013 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Effect of hypertrophic cardiomyopathy-linked troponin C mutations on the response of reconstituted thin filaments to calcium upon troponin I phosphorylation.
|
22489623 |
2012 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach.
|
21056975 |
2011 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.
|
20459070 |
2010 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
|
19439414 |
2009 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
|
18572189 |
2008 |