|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Regression analyses on echocardiography and serum labs revealed that LMNA variant carriers had dilated cardiomyopathy and primary renal disease.
|
31383942 |
2020 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
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, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Major genomic determinants of dilated cardiomyopathy (DCM) are titin truncating mutations and lamin A/C mutations.
|
30527532 |
2019 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recent clinical research has confirmed that EDMD is one of several overlapping skeletal muscle phenotypes that can result from mutations in EMD and LMNA with dilated cardiomyopathy as a common feature.
|
31460960 |
2019 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.
|
31316208 |
2019 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the LMNA gene cause a diverse array of diseases, including dilated cardiomyopathy (DCM).
|
30739589 |
2019 |
|
Cardiomyopathy, Dilated
|
0.500 |
Biomarker
|
group |
BEFREE |
DNA Damage Response/TP53 Pathway Is Activated and Contributes to the Pathogenesis of Dilated Cardiomyopathy Associated With LMNA (Lamin A/C) Mutations.
|
30696354 |
2019 |
|
Cardiomyopathy, Dilated
|
0.500 |
Biomarker
|
group |
BEFREE |
Further, these characteristics were more prevalent in the RBM20 registry than in large cohorts of patients with dilated cardiomyopathy and TTNtv cardiomyopathy and not significantly different from a cohort of patients with LMNA-associated cardiomyopathy.
|
30871351 |
2019 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A Novel Truncating LMNA Mutation in Patients with Cardiac Conduction Disorders and Dilated Cardiomyopathy.
|
29628476 |
2018 |
|
Cardiomyopathy, Dilated
|
0.500 |
Biomarker
|
group |
BEFREE |
Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees.
|
30012837 |
2018 |
|
Cardiomyopathy, Dilated
|
0.500 |
Biomarker
|
group |
BEFREE |
Plasma microRNAs as biomarkers for Lamin A/C-related dilated cardiomyopathy.
|
30008018 |
2018 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Upregulation of the aging related LMNA splice variant progerin in dilated cardiomyopathy.
|
29702688 |
2018 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the lamin A/C gene (LMNA) encoding the nuclear intermediate filament proteins lamins A and C cause a group of tissue-selective diseases, the most common of which is dilated cardiomyopathy (herein referred to as LMNA cardiomyopathy) with variable skeletal muscle involvement.
|
29668927 |
2018 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A mutation in the gene encoding Lamin A/C (LMNA<sub>p.R331Q</sub> ) led to reduced maximal force development through secondary disease remodelling in patients suffering from dilated cardiomyopathy.
|
28436080 |
2017 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We found a de novo SCN1A frameshift variant in a patient with sudden unexpected death in epilepsy and a LMNA nonsense variant in a patient with dilated cardiomyopathy.
|
28333919 |
2017 |
|
Cardiomyopathy, Dilated
|
0.500 |
Biomarker
|
group |
BEFREE |
Proteomic identification of putative biomarkers for early detection of sudden cardiac death in a family with a LMNA gene mutation causing dilated cardiomyopathy.
|
27457270 |
2016 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We report a case of a 12-yr-old boy referred to our unit with congenital generalized lipodystrophy and dilated cardiomyopathy related to a lamin gene mutation.
|
26821845 |
2016 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the Lamin A/C gene (LMNA), which encodes A-type nuclear Lamins, represent the most frequent genetic cause of dilated cardiomyopathy (DCM).
|
27421120 |
2016 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
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, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins cause dilated cardiomyopathy with variable muscular dystrophy.
|
23933734 |
2014 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Lamin A/C mutations in dilated cardiomyopathy.
|
24846508 |
2014 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
These "muscle-specific" isoforms are thought to form a complex with emerin and lamin A/C at the inner nuclear membrane and mutations in all three proteins cause Emery-Dreifuss muscular dystrophy and/or inherited dilated cardiomyopathy, disorders in which only skeletal muscle and/or heart are affected.
|
24718612 |
2014 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Lamin A/C mutations are a well-established cause of dilated cardiomyopathy.
|
23912926 |
2014 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
An accompanying paper from another laboratory shows similar impairments in mice engineered to express the LMNA H222P associated with dilated cardiomyopathy in humans and also in left ventricular tissue from human subjects.
|
23064282 |
2013 |
|
Cardiomyopathy, Dilated
|
0.500 |
GeneticVariation
|
group |
BEFREE |
LMNA mutations are associated with more than 10 clinical entities and represent one of the first causes of inherited dilated cardiomyopathy.
|
23455585 |
2013 |