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 |
GeneticVariation
|
disease |
BEFREE |
Preliminary genotype-phenotype assessment indicates that mutations affecting the outer dense plaque of desmosome (desmoglein2, plakoglobin, plakophilin2 and the N-terminal of desmoplakin) result in ARVC with the ordinary described phenotype.
|
16698823 |
2006 |
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 |
BEFREE |
It is considered a disease of cell adhesion because mutations in desmosomal genes, desmoplakin and plakoglobin, have been implicated in the pathogenesis of ARVC.
|
16415378 |
2006 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in DSP, JUP, PKP2, DSG2 and DSC2, encoding desmosomal proteins desmoplakin, plakoglobin, plakophilin 2 (PKP2), desmoglein 2 (DSG2), and desmocollin 2 (DSC2), respectively, cause ARVC.
|
20124997 |
2010 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in desmoplakin have recently been isolated in both autosomal-dominant and autosomal-recessive forms of ARVC.
|
16061754 |
2005 |
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 |
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 |
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 |
BEFREE |
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.
|
12875771 |
2003 |
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 |
To establish a cause and effect relationship between those DSP missense mutations and ARVD/C, we performed in vitro and in vivo analyses of the mutated proteins.
|
16917092 |
2006 |
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 |
Three other genes implicated for ARVC, plakoglobin (Naxos disease), desmoplakin (ARVC8) and plakophilin (ARVC9) have prompted the speculation that ARVC is primarily a disease of desmosomes.
|
16096717 |
2005 |
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 |
Biomarker
|
disease |
BEFREE |
The recent identification of causative mutations in plakoglobin, desmoplakin (DSP), and plakophilin-2 (PKP2) genes led to the hypothesis that ARVC is due to desmosomal defects.
|
16505173 |
2006 |
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 |
Biomarker
|
disease |
BEFREE |
Immunofluorescence studies localized Striatin to the intercalated disc region of the cardiac myocyte and co-localized it to three desmosomal proteins, Plakophilin-2, Plakoglobin and Desmoplakin, all involved in the pathogenesis of ARVC in human beings.
|
20596727 |
2010 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
The phenotypic triad of arrhythmogenic right ventricular cardiomyopathy (ARVC) associated with palmoplantar keratoderma and woolly hair has been previously associated with homozygous mutations in both plakoglobin and desmoplakin, which are both critical components of the desmosome.
|
18957847 |
2009 |
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 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Abnormal gap junction connexin43 expression has been reported in autosomal dominant forms of ARVC (Naxos and Carvajal disease) caused by homozygous mutations of desmosomal plakoglobin and desmoplakin.
|
18662195 |
2009 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
We established atrial myocyte cell lines expressing siRNA against desmoplakin (DP), responsible for human ARVC.
|
16823493 |
2006 |
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 |