Cardiomyopathy, Dilated
|
0.400 |
Biomarker
|
group |
BEFREE |
Using reduced representation bisulfite sequencing, we found that although CRS did not lead to global changes in DNA methylation in the murine heart, it nevertheless altered methylation at specific genes that are associated with the dilated cardiomyopathy (DCM) (<i>e.g.</i>, desmin) and adrenergic signaling of cardiomyocytes (ASPC) (<i>e.g.</i>, adrenergic receptor-α1) pathways.
|
31431066 |
2019 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In this paper, we report a novel heterozygous mutation of A285V codon conversion on exon 4 of the desmin (DES), using whole exome sequencing (WES) in an isolated proband with documented dilated cardiomyopathy (DCM).
|
23300193 |
2013 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy.
|
23815709 |
2013 |
Cardiomyopathy, Dilated
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
|
22484823 |
2013 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
|
23815709 |
2013 |
Cardiomyopathy, Dilated
|
0.400 |
CausalMutation
|
group |
CLINVAR |
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
|
22153487 |
2012 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
|
22153487 |
2012 |
Cardiomyopathy, Dilated
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.
|
22275259 |
2012 |
Cardiomyopathy, Dilated
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
|
23155419 |
2012 |
Cardiomyopathy, Dilated
|
0.400 |
Biomarker
|
group |
BEFREE |
Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy.
|
21768101 |
2011 |
Cardiomyopathy, Dilated
|
0.400 |
Biomarker
|
group |
BEFREE |
Proteasome functional insufficiency (PFI) has been observed in proteinopathies, such as desmin-related cardiomyopathy, and implicated in many common diseases, including dilated cardiomyopathy and ischemic heart disease.
|
21841311 |
2011 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
|
20696008 |
2011 |
Cardiomyopathy, Dilated
|
0.400 |
CausalMutation
|
group |
CLINVAR |
"Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties."
|
19763525 |
2009 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
|
19587455 |
2009 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.
|
19716701 |
2009 |
Cardiomyopathy, Dilated
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
|
19879535 |
2009 |
Cardiomyopathy, Dilated
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
|
18061454 |
2008 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Analysis of hearts from transgenic animals revealed that mutant desmin loses its Z-disc localization but it can still associate with the intercalated discs, which, however, have an altered architecture, resembling other examples of dilated cardiomyopathy.
|
18539904 |
2008 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
BEFREE |
According to the predominant view, desmin mutations cause dilated cardiomyopathy (DCM).
|
16890305 |
2007 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Prevalence of desmin mutations in dilated cardiomyopathy.
|
17325244 |
2007 |
Cardiomyopathy, Dilated
|
0.400 |
AlteredExpression
|
group |
LHGDN |
Immunoadsorption and subsequent immunoglobulin substitution decreases myocardial gene expression of desmin in dilated cardiomyopathy.
|
17924085 |
2007 |
Cardiomyopathy, Dilated
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
|
17720647 |
2007 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
LHGDN |
Prevalence of desmin mutations in dilated cardiomyopathy.
|
17325244 |
2007 |
Cardiomyopathy, Dilated
|
0.400 |
GeneticVariation
|
group |
LHGDN |
Desmin mutations in a St. Petersburg cohort of cardiomyopathies.
|
17626518 |
2006 |
Cardiomyopathy, Dilated
|
0.400 |
Biomarker
|
group |
BEFREE |
However, mutations at the inner dense plaque, particularly affecting the desmin-binding site of desmoplakin, may result in ARVC with predominantly left ventricular involvement and clinical overlapping with dilated cardiomyopathy.
|
16698823 |
2006 |