|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The novel hypothesis suggested by the data is that EDMD/CMD1A mutations in the tail domain of lamin A/C work by direct impairment of emerin interaction, whereas mutations in the rod region cause defective lamina assembly that might or might not impair emerin capture at the nuclear rim.
|
12783988 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened a series of 25 unrelated DCM patient samples for (a) cardiomyocyte nuclear abnormalities and (b) mutations in LMNA and TMPO as they are two DCM-causing genes that encode proteins involved in maintaining nuclear envelope architecture.
|
20127487 |
2010 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.
|
22177269 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
|
15372542 |
2004 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac beta-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, alpha cardiac actin, alpha tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C.
|
15671604 |
2005 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Conduction system disease and DCM were common in carriers of LMNA variants.
|
18585512 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent pooled cohorts of patients with genetic DCM and in particular in those with Lamin A/C (LMNA) mutations have identified patients at increased risk of SCD and allowed the creation of algorithms to prognosticate SCD risk in mutation carriers.
|
31768884 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC).
|
25837155 |
2015 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
|
15219508 |
2004 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the lamin A/C gene (LMNA) have been reported to be involved in dilated cardiomyopathy (DCM) associated with conduction system disease and/or skeletal myopathy.
|
12920062 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the LMNA gene, encoding nuclear lamin A and lamin C (hereafter lamin A/C), is a common cause of familial dilated cardiomyopathy (DCM).
|
27235420 |
2016 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Multiple loci and three genes encoding cardiac actin, desmin, and lamin A/C have been described for autosomal dominant DCM.
|
10903836 |
2000 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LMNA<sup>D300N</sup> mutation is associated with DCM in progeroid syndromes.
|
30696354 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
|
18606848 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.
|
12486434 |
2002 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Major genomic determinants of dilated cardiomyopathy (DCM) are titin truncating mutations and lamin A/C mutations.
|
30527532 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variations in the lamin gene (<i>LMNA</i>) cause familial dilated cardiomyopathy (DCM).
|
31495264 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
|
24375749 |
2014 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.
|
21085127 |
2011 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Systematic identification of pathological lamin A interactors.
|
24623722 |
2014 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
18585512 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Twenty-three different mutations of LMNA have so far been shown to cause autosomal-dominant Emery-Dreifuss muscular dystrophy (EDMD2), three mutations were reported to cause limb-girdle muscular dystrophy (LGMD1B), eight mutations are known to result in dilated cardiomyopathy (CMD1A), and seven mutations were reported to cause familial partial lipodystrophy (FPL).
|
11102973 |
2000 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that DCM mutants perturb the self-association of lamin A (LA) and it's binding with lamin B1 (LB1).
|
28844980 |
2017 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, it was concluded that the LMNA rs4641 SNP was associated with DCM risk, which indicated that LMNA is a susceptibility gene for DCM.
|
26634508 |
2015 |