Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Muscle LIM protein (MLP, CSRP3) is a key regulator of striated muscle function, and its mutations can lead to both hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in patients.
|
31406109 |
2019 |
Cardiomyopathy, Familial Idiopathic
|
0.100 |
Biomarker
|
disease |
BEFREE |
MLP (muscle LIM protein)-deficient mice count among the first mouse models for dilated cardiomyopathy (DCM), yet the exact role of MLP in cardiac signalling processes is still enigmatic.
|
27353086 |
2016 |
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In support of this hypothesis, we have investigated the ultrastructure of the ID in mouse hearts from control and dilated cardiomyopathy (DCM) models, the MLP-null and a cardiac-specific β-catenin mutant, cΔex3, as well as in human left ventricle from normal and DCM samples.
|
23708682 |
2014 |
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have shown an association between CSRP3 missense mutations and either dilated cardiomyopathy (DCM) or HCM, but all these studies were unable to provide comprehensive genetic evidence for a causative role of CSRP3 mutations.
|
18505755 |
2008 |
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Seven patients with a MLP-mutation were found to harbor the DCM-associated, functionally characterized W4R mutation.
|
16352453 |
2006 |
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent genetic investigations have revealed that mutations of genes encoding Z-disc components, including titin and muscle LIM protein (MLP), are the primary cause of both HCM and DCM.
|
15582318 |
2004 |
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Based upon these data, and the recent descriptions of mutations in MLP in patients with DCM or hypertrophic cardiomyopathy, we screened patients for mutations in the MLP and alpha-actinin-2 genes.
|
14567970 |
2004 |
Cardiomyopathy, Familial Idiopathic
|
0.100 |
Biomarker
|
disease |
BEFREE |
MLP is therefore a candidate gene for heritable forms of hypertrophic cardiomyopathy (HCM) and DCM in humans.
|
12642359 |
2003 |
Cardiomyopathy, Familial Idiopathic
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Data was validated using the MLP-deficient mouse, in which several differentially expressed transcripts identified in the human DCM biopsies could be confirmed.
|
12909323 |
2003 |
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Further, a human MLP mutation (W4R) associated with dilated cardiomyopathy (DCM) results in a marked defect in T-cap interaction/localization.
|
12507422 |
2002 |