|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
BEFREE |
For the most performant of these siRNAs (siRYR2-U10), we evaluated the efficacy of an adeno-associated serotype 9 viral vector (AAV9) expressing miRYR2-U10 in correcting RyR2 (Ryanodine Receptor type 2 protein) function after in vivo delivery by intraperitoneal injection in neonatal and adult RyR2<sup>R4496C/+</sup> (mice heterozygous for the R4496C mutation in the RyR2) heterozygous CPVT mice.
|
28620067 |
2017 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
BEFREE |
Deletion mutants of unc-68, and in particular the point mutant UNC-68(R4743C), analogous to the established human CPVT mutant RyR2(R4497C), were unable to follow 3.7 Hz pacing, with progressive defects during long stimulus trains.
|
29235522 |
2017 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias.
|
27733687 |
2016 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia.
|
24793461 |
2014 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias.
|
25372681 |
2014 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
BEFREE |
Using CPVT mouse models (Casq2(-/-) and RyR2(R4496C/+) mice), the effect of increasing sinus heart rate was tested by pretreatment with atropine and by atrial overdrive pacing.
|
23295832 |
2013 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
BEFREE |
The increased activity of RyR2(R4496C) in SAN leads to an unanticipated decrease in SAN automaticity by a Ca(2+)-dependent decrease of I(Ca,L) and sarcoplasmic reticulum Ca(2+) depletion during diastole, identifying subcellular pathophysiological alterations contributing to the SAN dysfunction in catecholaminergic polymorphic ventricular tachycardia patients.
|
22711277 |
2012 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death.
|
17984046 |
2007 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.
|
16188589 |
2005 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
|
15046072 |
2004 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
|
15466642 |
2004 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases.
|
15544015 |
2004 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
|
15046073 |
2004 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
|
14571276 |
2003 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
BEFREE |
We report expression of three CPVT-linked human RyR2 (hRyR2) mutations (S2246L, N4104K, and R4497C) in HL-1 cardiomyocytes displaying correct targeting to the endoplasmic reticulum.
|
12919952 |
2003 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.
|
12093772 |
2002 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.
|
12106942 |
2002 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.
|
11208676 |
2001 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.
|
11157710 |
2001 |
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
T |
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121918600
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
T |
0.850 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs794728708
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
To determine if somatic in vivo genome editing using the CRISPR/Cas9 system delivered by adeno-associated viral (AAV) vectors could correct catecholaminergic polymorphic ventricular tachycardia arrhythmias in mice heterozygous for RyR2 mutation R176Q (R176Q/+).
|
30355031 |
2018 |
|
rs794728708
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
Our data also suggest that CaM dissociation may contribute to the pathogenesis of arrhythmias with the CPVT-linked R176Q mutation.
|
29248564 |
2018 |
|
rs794728708
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
Confocal microscopy was used to assess the effects of tetracaine and 9 derivatives (EL1-EL9) on spontaneous Ca<sup>2+</sup> sparks in ventricular myocytes isolated from RyR2-R176Q/+ mice with CPVT.
|
27838126 |
2017 |
|
rs794728708
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |