|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that buried ARVC mutations destabilize desmoplakin and thereby impair desmosome integrity under tension.
|
30773294 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Therefore, the two site variants in DSC2 and DSP genes are likely to become a new research focus for diagnosis and treatment of ARVC in the future.
|
31484862 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
We hypothesized that plectin, a cytolinker protein encoded by the PLEC gene, could play a role in ARVC because it has been proposed to link the desmosomal protein desmoplakin to the cytoskeleton and therefore has a potential function in the desmosomal structure.
|
30161220 |
2018 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations that disrupt the function and structure of desmosomal proteins, including desmoplakin, have been extensively linked to familial arrhythmogenic right ventricular cardiomyopathy (ARVC).
|
30160835 |
2018 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Accordingly, we assessed the genotype-phenotype correlation for desmoplakin (DSP) missense and non-missense mutations causing ARVC.
|
28527814 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.
|
26850880 |
2016 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Desmoplakin (DSP) gene was the first desmosomal gene linked to arrhythmogenic right ventricular cardiomyopathy (ARVC) which was associated with sudden death.
|
26585738 |
2016 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Here, we show that iASPP is expressed at intercalated discs in human and mouse postmitotic cardiomyocytes. iASPP interacts with desmoplakin and desmin in cardiomyocytes to maintain the integrity of desmosomes and intermediate filament networks in vitro and in vivo. iASPP deficiency specifically induces right ventricular dilatation in mouse embryos at embryonic day 16.5. iASPP-deficient mice with exon 8 deletion (Ppp1r13l(Δ8/Δ8)) die of sudden cardiac death, displaying features of ARVC.
|
25691752 |
2015 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Epsilon wave uncovered by exercise test in a patient with desmoplakin-positive arrhythmogenic right ventricular cardiomyopathy.
|
25936878 |
2015 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic screening of the DSP gene was performed in 47 consecutive patients with a phenotype of either an ARVC (n = 24) or an idiopathic dilated cardiomyopathy (DCM), who presented with ventricular arrhythmias or a family history of sudden death (n = 23) (aged 40 ± 19 years, 62% males).
|
24938629 |
2014 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23810894 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
|
24070718 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Gene expression levels of desmosomal proteins (PKP2 and plakoglobin) in cardiomyocytes from ARVC-iPSCs were significantly lower compared with cardiomyocytes from control iPSCs (P< 0.01); there were no significant differences in the expression of desmoplakin, N-cadherin, and connexin 43 between the two groups.
|
22798562 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Evaluation of dysmorphology by chromosome microarray (CMA) identified a 4.4 Mb deletion at chromosome 6p24 that included both TFAP2A and DSP, encoding desmoplakin, an additional component of the cardiac desmosome implicated in ARVD/C.
|
23307527 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to investigate protein expression in myocardial and epidermal tissue of ARVC and CS patients carrying DSP mutations in order to elucidate potential molecular disease mechanisms.
|
23137101 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy.
|
23954618 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
In 142 Dutch patients (106 men, mean age 51 ± 13 years) with proven ARVD/C (fulfillment of 2010 TFC for diagnosis), 5 known desmosomal genes (PKP2, DSP, DSC2, DSG2, and JUP) and the nondesmosomal PLN gene were screened.
|
23871674 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
|
22555271 |
2012 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Histological analysis confirmed ARVC.Despite the loss of specific immunoreactive signal for desmosomal components at the cardiac intercalated disks (shown for plakoglobin, desmoplakin, and plakophilin-2), these proteins could be detected by Western blotting.
|
22036071 |
2012 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To test this hypothesis, we investigated a murine model with conditional cardiac genetic deletion of one desmoplakin allele (DSP ±) and compared the findings to patients with non-diagnostic features of ARVC who carried mutations in desmoplakin.
|
22240500 |
2012 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.
|
21606390 |
2011 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
|
21859740 |
2011 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in desmoplakin can result in devastating skin blistering diseases and arrhythmogenic right ventricular cardiomyopathy, a heart muscle disorder associated with ventricular arrhythmias, heart failure, and sudden death.
|
21756917 |
2011 |