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rs3745297
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Abnormal calcium cycling and cardiac arrhythmias associated with the human Ser96Ala genetic variant of histidine-rich calcium-binding protein.
|
24125847 |
2013 |
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rs3745297
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Impaired calcium homeostasis is associated with sudden cardiac death and arrhythmias in a genetic equivalent mouse model of the human HRC-Ser96Ala variant.
|
28859293 |
2017 |
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rs3745297
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Herein, we summarize the current evidence on the pivotal role of HRC in the regulation of cardiac rhythmicity and the importance of HRC Ser96Ala as a genetic modifier for arrhythmias in the setting of heart failure.
|
30319456 |
2018 |
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rs3745297
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In the present study, we assessed the molecular and cellular mechanisms underlying human arrhythmias by adenoviral expression of the human wild-type (HRC(WT)) or mutant HRC (HRC(S96A)) in adult rat ventricular cardiomyocytes.
|
21742996 |
2011 |
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rs104894584
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Although we were unable to test for inducibility of arrhythmia susceptibility due to lack of patients' consent, our computer simulations predict a steeper steady-state restitution curve for the D172N and WT/D172N mutation, compared with WT or to HERG or KvLQT1 mutations, which may predispose SQT3 patients to a greater risk of reentrant arrhythmias.
|
15761194 |
2005 |
|
rs104894584
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Increased I(K1) due to the Kir2.1 D172N mutation increases arrhythmia risk due to increased tissue vulnerability, shortened ERP, and altered excitability, which in combination facilitate initiation and maintenance of re-entrant circuits.
|
22308236 |
2012 |
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rs104894584
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A gain-of-function <i>KCNJ2</i> D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death.
|
29290967 |
2017 |
|
rs120074192
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We have investigated mechanisms by which the S1 domain S140G KCNQ1 mutation influences atrial arrhythmia risk and, additionally, whether it can affect ventricular electrophysiology.
|
24411289 |
2014 |
|
rs120074192
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In conclusion, increased I(Ks) due to the KCNQ1 S140G mutation increases atrial susceptibility to arrhythmia due to increased tissue vulnerability, shortened ERP and altered atrial conduction velocity, which, in combination, facilitate initiation and maintenance of re-entrant excitation waves.
|
22508963 |
2012 |
|
rs120074192
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The purpose of this study was to further explore the association of the KCNQ1 S140G mutation with cardiac arrhythmias.
|
17467630 |
2007 |
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rs137854618
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A 12-lead ECG can be used to predict arrhythmias in SCN5A D1275N mutation carriers.
|
28294644 |
2017 |
|
rs137854618
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Cardiac conduction defect and atrial arrhythmias in a large Finnish family appear to result from the SCN5A D1275N mutation.
|
16684018 |
2006 |
|
rs137854618
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The aim of this study was to generate and characterize a transgenic zebrafish arrhythmia model harboring the pathogenic human cardiac sodium channel mutation SCN5A-D1275N, that has been robustly associated with a range of cardiac phenotypes, including conduction disease, sinus node dysfunction, atrial and ventricular arrhythmias, and dilated cardiomyopathy in humans and in mice.
|
23791817 |
2013 |
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rs794728708
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our findings demonstrate that a gain-of-function mutation in RyR2 confers an increased risk of cardiac arrhythmias and sudden death in young mice and that young R176Q/+ mice may be used as a model for elucidating the complex interplay between genetic and environmental risk factors associated with sudden infant death syndrome.
|
20009080 |
2009 |
|
rs794728708
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Strikingly, none of the R176Q/+ mice treated with AAV-CRISPR developed arrhythmias, compared with 71% of R176Q/+ mice receiving control AAV serotype 9.
|
30355031 |
2018 |
|
rs794728708
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our data also suggest that CaM dissociation may contribute to the pathogenesis of arrhythmias with the CPVT-linked R176Q mutation.
|
29248564 |
2018 |
|
rs1800172
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our present study suggests that administering psychotropic drug therapy to individuals carrying the G643S polymorphism may heighten the risk of prolonged QT intervals and life-threatening arrhythmias.
|
24284363 |
2014 |
|
rs1800172
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our data suggest that use of NPSs, particularly synthetic cathinones, is associated with elevated risk of serious cardiac arrhythmia and sudden death for subjects carrying KCNQ1 G643S.
|
29855564 |
2018 |
|
rs1805123
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our data suggest that a common polymorphism (K897T) can markedly accentuate the loss of function of mildly defective HERG channels, leading to long-QT syndrome-mediated arrhythmias and sudden infant death.
|
20181576 |
2010 |
|
rs1805123
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In the subgroup of carriers with syncope and/or cardiac arrest (n=10, 90% women), K897T-KCNH2 polymorphism (p=0.02), periodic paralysis (p=0.004), muscle weakness (p=0.04), palpitations (p=0.04), arrhythmias (biventricular VT, p=0.003; polymorphic VT, p=0.009) were observed more frequently.
|
28336205 |
2017 |
|
rs1805128
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Transient myocardial ischemia may have exaggerated the instability from the arrhythmic substrate, even though KCNE1-D85N abnormalities alone are not thought to cause fatal arrhythmias.
|
31308327 |
2019 |
|
rs1805128
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We demonstrate that each additional copy of the KCNE1 D85N minor allele is associated with a considerable 10.5 ms prolongation of the age-, gender- and heart rate-adjusted QT interval and could thus modulate repolarization-related arrhythmia susceptibility at the population level.
|
19019189 |
2009 |
|
rs199473024
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our data suggest that use of NPSs, particularly synthetic cathinones, is associated with elevated risk of serious cardiac arrhythmia and sudden death for subjects carrying KCNQ1 G643S.
|
29855564 |
2018 |
|
rs199473024
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our present study suggests that administering psychotropic drug therapy to individuals carrying the G643S polymorphism may heighten the risk of prolonged QT intervals and life-threatening arrhythmias.
|
24284363 |
2014 |
|
rs28933979
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Continuous development of arrhythmia is observed in Swedish transplant patients with familial amyloidotic polyneuropathy (amyloidogenic transthyretin Val30Met variant).
|
21280184 |
2011 |