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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Paper-12037834.
Two disease loci were previously mapped respectively to 14q23-q24 ( ARVD1) and to 1q42-q43 ( ARVD2). Paper-1301895.
The multipoint linkage analysis suggests that the novel ARVD locus, provisionally named ARVD4, maps to 2q32. Paper-1301895.
TAIL1: an isthmin-like gene, containing type 1 thrombospondin-repeat and AMOP domain, mapped to ARVD1 critical region. Paper-10353300.
Recently, several groups have delineated the functional effects of the RyR2 mutations associated with CPVT and ARVD2. Paper-10435140.
Clinical features of arrhythmogenic right ventricular dysplasia/ cardiomyopathy associated with mutations in plakophilin-2. Paper-11395438.
Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD. Paper-8577463.
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Paper-12226057.
Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. Paper-8613771.
METHODS: Myocardial samples from 12 patients with ARVD/C were analyzed by polymerase chain reaction for the presence of cardiotropic viruses. Paper-9196294.
Arrhythmogenic right ventricular cardiomyopathy type 1 ( ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. Paper-9790165.
Arrhythmogenic right ventricular dysplasia type 1 and mutations in transforming growth factor beta3 gene regulatory regions: a breakthrough? Paper-11102821.
CONCLUSION: Mild right ventricular abnormalities are likely sources for arrhythmias, even in the absence of arrhythmogenic right ventricular dysplasia. Paper-1446815.
Genomic organization and isoform-specific tissue expression of human NAPOR ( CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia. Paper-8846287.
We sequenced G4.5 in two kindreds with X-linked DCM and in two unrelated men, one with idiopathic DCM and the other with DCM of arrhythmogenic right ventricular dysplasia. Paper-9403409.
As a positional candidate gene, we characterized PTPLA by determining its tissue expression, its genomic structure, and we also screened for mutations in the ARVD patients. Paper-8577463.
This review discusses the regulation of RyRs by FKBPs and the possibility that defective modulation of RyR2 by FKBP12.6 could play a role in heart failure, CPVT, and ARVD2. Paper-10624574.
Since both loci ARVD1 and ARVD2 map in proximity of alpha-actinin genes, the possible implication of these myofibrillar proteins in the pathogenesis of ARVD is discussed. Paper-504282.
For the first time, we have identified mutations in desmocollin-2 in patients with ARVD/C, a finding that is consistent with the hypothesis that ARVD/C is a disease of the desmosome. Paper-12264478.
Autosomal dominant arrhythmogenic right ventricular dysplasia ( ARVD; MIM 107970) is a genetically heterogeneous cardiomyopathy, which often causes sudden death in juveniles and athletes. Paper-1301895.
The purpose of our study was to validate the frequency of PKP2 mutations in another large series of ARVD/C patients and to examine the phenotypic characteristics associated with PKP2 mutations. Paper-11395438.
Mutations in 6 genes, including 4 encoding desmosomal proteins (Junctional plakoglobin ( JUP), Desmoplakin ( DSP), Plakophilin 2, and Desmoglein 2), have been identified in patients with ARVD/C. Paper-12226057.
All patients had underlying heart diseases: dilated cardiomyopathy (n = 2), coronary artery disease (n = 1), postoperative tetralogy of Fallot ( TOF; n = 2), and arrhythmogenic right ventricular dysplasia (n = 1). Paper-1147481.
The underlying cardiac pathology were congenital LQT syndrome(1), hypertrophic cardiomyopathy [2], coronary artery disease [2], rheumatic valvular disease [1], Brugada syndrome [1], arrhythmogenic right ventricular dysplasia [1] and idiopathic VF [1]. Paper-8340929.
Furthermore, we examined the endocardial fat-infiltrated areas detected by electron-beam CT ( CT-A) and electrophysiologically abnormal areas detected in the mapping electrophysiology study (EPS-A) and compared the relationship between them in the ARVD group. Paper-753526.
In humans, TAIL1 gene is located on chromosome 14q24.3 within ARVD1 ( arrhythmogenic right ventricular dysplasia/ cardiomyopathy, type 1) critical region; preliminary evidence suggests that it is expressed in several tissues, showing multiple alternative splicing. Paper-10353300.
Diagnosis of arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Paper-7945196.
Mutations in the cardiac isoform of RyR2 are associated with catecholaminergic polymorphic ventricular arrhythmias (CPVT), and arrhythmogenic right ventricular dysplasia type 2 ( ARVD2), whereas mutations in the skeletal muscle isoform ( RyR1) are linked to malignant hyperthermia (MH) and central core disease ( CCD). Paper-10624574.
Direct sequencing of DNA from individuals belonging to established ARVD1 families failed to detect causative mutations in exonic sequences of four genes ( POMT2, TGFbeta3, KIAAA1036 and KIAA0759) expressed in the heart and which defects could possibly induce plasma membrane instability or apoptosis, key features of ARVD pathogenesis. Paper-9790165.
Biplane 30-degree RAO and 60-degree LAO RV selective cineangiography was performed in 21 patients with significant ventricular arrhythmias ( ventricular tachycardia in 14, salvos in three, and complex PVCs in seven) and a high presumption of arrhythmogenic RV dysplasia ( ARVD), and in a control group of 10 presumed normal individuals. Paper-5879480.
METHODS: In a cohort of 343 patients (210 men and 133 women; mean age, 46.0 +/- 13.7 years) meeting the Task Force of the Working Group on Myocardial and Pericardial Diseases of the European Society of Cardiology and the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology diagnostic criteria for ARVD/C, the value of different ECG criteria (eg, localized right precordial QRS prolongation defined as QRS duration in (V1+V2+V3)/(V4+V5+V6) of 1.2 or higher, right precordial QRS prolongation with QRS in V1-3 of 110 milliseconds or higher, epsilon potentials in the right precordial leads, S-wave upstroke in V1-3 of 55 milliseconds or higher, and right precordial T-wave inversions) was analyzed with the use of a normal recording technique and a highly amplified and modified recording technique (n = 207) at a paper speed of 50 mm/s. Fifty-two phenotypically and genotypically unaffected individuals identified by systematic screening in 24 families (30 men; mean age, 42.4 +/- 8.3 years) were treated as control subjects. Paper-12383503.
These accession numbers are used for gene ARVD1: .
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