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rs184442491
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Atrial myocyte electrophysiology, Ca<sup>2+</sup> handling, and arrhythmia susceptibility were studied in wild-type and Scn5a knock-in mice expressing phosphomimetic (S571E) or phosphoresistant (S571A) Na<sub>V</sub>1.5 at Ser571.
|
31622781 |
2020 |
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rs1355262401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To confirm the causative role of S282 dephosphorylation in cardiac injury, rat hearts were intramyocardially injected with a virus carrying the S282 mutant substituted with alanine (S282A), thus causing arrhythmias and reducing cardiac output and myocardial apoptosis with p38/Fas/FADD pathway activation.
|
31463533 |
2019 |
|
rs200484060
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genes susceptible to arrhythmias and cardiomyopathies were analyzed and both the probands carried the same exonic mutation of DSG2 p.F531C (NM_001943, exon 11: c.T1592G).
|
30177324 |
2019 |
|
rs779640835
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P1124L mice also showed higher susceptibility to arrhythmia at 8 mo of age, before the onset of hypertrophy.
|
30835254 |
2019 |
|
rs104893714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we determine the effect of long-QT syndrome-9-<i>CAV3</i> mutation F97C on Kir2.x homo- and heterotetramers and model-associated arrhythmia mechanisms.
|
29326130 |
2018 |
|
rs143624519
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Treatment of hTau-A152T mice with the antiepileptic drug levetiracetam also rapidly and persistently reversed their brain dysrhythmia and network hypersynchrony.
|
29859869 |
2018 |
|
rs755373114
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ANK2 p.Q1283H is a disease-associated variant that confers susceptibility to stress-induced arrhythmias, which may be prevented by the administration of metoprolol or flecainide.
|
30571258 |
2018 |
|
rs120074195
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study further substantiates a causal link between the V307L KCNQ1 mutation and pro-arrhythmia in human ventricles, and establishes partial inhibition of I<sub>Ks</sub> as a potential anti-arrhythmic strategy in SQT2.
|
28814790 |
2017 |
|
rs1805127
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with KCNE1(G38S) had a rate-dependent repolarization abnormality similar to patients with LQT2 and, therefore, may have a potential risk to develop lethal arrhythmias.
|
27255646 |
2017 |
|
rs79023478
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Together, our studies demonstrate that under sedentary conditions, the R4344Q mutation results in Ca<sup>2+</sup> deregulation and spontaneous arrhythmia, whereas in the presence of chronic, pathological stress, it leads to cardiac remodeling and dilation.
|
28630914 |
2017 |
|
rs794728721
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results uncover a mechanism for the CPVT-causing RyR2 N-terminal mutation R420Q, and they highlight the fact that enhancing the Ca2+ clock may slow the heart rhythm by disturbing the coupling between Ca2+ and voltage clocks.
|
28422759 |
2017 |
|
rs10757278
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the study was to find whether patients carrying polymorphic allele of the rs10757278 polymorphism from 9p21 locus have changed risk of arrhythmia (atrial fibrillation, AF; sustained ventricular tachycardia or ventricular fibrillation, sVT/VF) during acute phase of myocardial infarction.
|
26615606 |
2016 |
|
rs137854602
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This initial functional study for SCN5A mutation in the Chinese SUNDS victim revealed that the acidosis aggravated the loss of function of mutant channel R1512W and suggested that nocturnal sleep disorders-associated slight acidosis may trigger the lethal arrhythmia underlying the sudden death of SUNDS cases in the setting of genetic defect.
|
27281089 |
2016 |
|
rs150821281
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In c.419C>T carriers versus non-carriers, multifactorially adjusted hazard ratios were 1.26 (95% confidence interval: 0.77-2.07) for heart failure, 1.40 (0.90-2.17) for arrhythmias, 1.15 (0.78-1.71) for end points combined, and 1.33 (0.98-1.80) for all-cause mortality.
|
26264440 |
2016 |
|
rs199472708
|
|
|
0.010 |
GeneticVariation |
BEFREE |
(Heart Rhythm 11:67-75, 2014) to fit the behavior of I Ks due to the G229D mutation in KCNQ1 under a heterozygous mutant form.
|
26922794 |
2016 |
|
rs35530544
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On the basis of our findings and current clinical data, we support classification of p.L1622I as a "mild" loss-of-function variant that may confer arrhythmia susceptibility in the context of secondary risk factors including environment, medication, and/or additional genetic variation.
|
27298202 |
2016 |
|
rs372827955
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overexpression of p.R355C developed an atrial arrhythmia suggestive of paroxysmal AF in the zebrafish model.
|
26762269 |
2016 |
|
rs374528680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, the increased repolarization dispersion caused by the G1911R mutation is a primary factor that may primarily contribute to the genesis of cardiac arrhythmias in Timothy Syndrome.
|
27502440 |
2016 |
|
rs869025337
|
|
|
0.010 |
GeneticVariation |
BEFREE |
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
|
26642364 |
2016 |
|
rs121918602
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present several lines of complementary evidence, indicating that the arrhythmia-associated L433P mutation disrupts RyR2 N-terminus self-association.
|
25411383 |
2015 |
|
rs121918606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The RyR2-A4860G mutation reveals novel pathways by which RyR2 channels engage sarcolemmal currents to produce life-threatening arrhythmias.
|
25775566 |
2015 |
|
rs1249958
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Human G109E-inhibitor-1 impairs cardiac function and promotes arrhythmias.
|
26455482 |
2015 |
|
rs2200733
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the 3 genetic loci most strongly associated with AF, the chromosome 4q25 SNP rs2200733 is significantly associated with recurrence of atrial arrhythmias after catheter ablation for AF.
|
25684755 |
2015 |
|
rs3766871
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Its gene variant rs3766871 entails channel destabilization and enhanced intracellular Ca(2+) oscillation, thus promoting cardiac arrhythmias.
|
25773045 |
2015 |
|
rs397515458
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using an NGS panel including 42 genes involved in cardiac sudden death, 2 heterozygous pathogenic mutations (c.613C> T/p.Gln205* and c.22 + 29 A>G) were identified in the Triadin gene in 2 sibs who experienced early severe arrhythmias without evidence of CPVT diagnosis at first cardiac evaluation.
|
26200674 |
2015 |