Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
|
10594734 |
1999 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
|
12373648 |
2002 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
|
12373648 |
2002 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
To characterize the clinical profile of patients belonging to families affected with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations of the gene encoding for the cell-to-cell adhesion protein desmoplakin (DSP).
|
15941723 |
2005 |
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 |
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 |
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 |
LHGDN |
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 |
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 |
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 |
CLINVAR |
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 |
Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications.
|
17045679 |
2007 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.
|
19095136 |
2008 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
|
19279339 |
2009 |
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 |
CLINVAR |
Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.
|
19358943 |
2009 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Skin and heart: une liaison dangereuse.
|
19558499 |
2009 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
|
20716751 |
2010 |
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 |
CLINVAR |
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
|
20864495 |
2010 |
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
|
20716751 |
2010 |