Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance.
|
31668660 |
2020 |
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 |
LMNA<sup>D300N</sup> mutation is associated with DCM in progeroid syndromes.
|
30696354 |
2019 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
LMNA chromatin immunoprecipitation-sequencing, reduced representative bisulfite sequencing, and RNA-sequencing were performed in 5 control and 5 LMNA-associated DCM hearts.
|
30739589 |
2019 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
LMNA is one of the most frequently mutated genes and should be included in all target gene assessments of end-stage DCM patients until more data are available.
|
31303467 |
2019 |
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 |
BEFREE |
Patients with some mutations in the lamin A/C (LMNA) gene are characterized by the presence of dilated cardiomyopathy (DCM), conduction abnormalities, ventricular tachyarrhythmias (VT), and sudden cardiac death (SCD).
|
31847799 |
2019 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genes associated predominantly with arrhythmic DCM included LMNA and SCN5A, as well as the more recently-reported DCM disease genes, RBM20, FLNC, and TTN.
|
30482687 |
2019 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Desmosomal and LMNA gene variants identify the subset of DCM patients who are at greatest risk for SCD and life-threatening ventricular arrhythmias, regardless of the left ventricular ejection fraction.
|
31514951 |
2019 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Taken together, our findings suggest that the activation of the PDGF pathway contributes to the pathogenesis of LMNA-related DCM and point to PDGF receptor-β (PDGFRB) as a potential therapeutic target.
|
31316208 |
2019 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Characterised by progressive conduction system disease, arrhythmia and systolic impairment, lamin A/C heart disease is more malignant than other common DCMs due to high event rates even when the left ventricular impairment is mild.
|
29175975 |
2018 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have previously described 19 pedigrees with apparent lamin (<i>LMNA</i>)-related dilated cardiomyopathy (DCM) manifesting in affected family members across multiple generations.
|
30012837 |
2018 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We explored the prevalence, cardiac penetrance, and expressivity of LMNA mutations among familial DCM in Norway.
|
29095976 |
2018 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using targeted resequencing, we discovered a novel truncating LMNA mutation associated with CCD and DCM in this family characterized by gender differences in clinical severity in LMNA carriers.
|
29628476 |
2018 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TTN truncating variants were the major cause of sporadic DCM (21.4% of sporadic cases) as with Caucasians, whereas LMNA variants, which include a novel recurrent LMNA E115M variant, were the most frequent in familial DCM (24.0% of familial cases) unlike Caucasians.
|
29386531 |
2018 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LMNA gene are a common cause (6-8%) of dilated cardiomyopathy (DCM) leading to heart failure, a growing health care problem worldwide.
|
29702688 |
2018 |
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 |
The frequency of ventricular arrhythmia in DCM patients with LMNA (50 %) and PLN (43 %) mutations was significantly higher.
|
27576561 |
2017 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study shows that tTTN-associated DCM is less severe at presentation and more amenable to standard therapy than LMNA mutation-induced DCM or iDCM.
|
27813223 |
2017 |
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 |
Biomarker
|
disease |
BEFREE |
We suggest following these proteins as putative biomarkers for the evaluation of DCM status in LMNA mutation carriers.
|
27457270 |
2016 |
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 |
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 |
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
In addition, they not only indicate that LMNA and TTN mutational status may be useful in this family for risk stratification in individuals at risk for DCM but also suggest titin as a modifier for DCM.
|
23463027 |
2013 |