|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Long QT syndrome (LQTS) is a common inheritable arrhythmogenic disorder, often secondary to mutations in the KCNQ1, KCNH2, and SCN5A genes.
|
29650123 |
2018 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Dysfunction of the human ether-a-go-go related gene (hERG)-encoded potassium channel is identified as a major cause of the long QT syndrome, a marker for lethal cardiac arrhythmia.
|
29671323 |
2018 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Wearable cardioverter defibrillators for patients with long QT syndrome.
|
30041777 |
2018 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a family-based study who are afflicted by recurrent SIDS in which several members harbor a variant, p.Pro963Thr, in the C-terminal region of the human-ether-a-go-go (hERG) gene, published to be responsible for cases of LQTS type 2.
|
29331839 |
2018 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study aims to evaluate the genetic contribution of a KCNH2 variant for the two LQTS phenotypes.
|
27816319 |
2017 |
|
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Fluconazole-induced long QT syndrome via impaired human ether-a-go-go-related gene (hERG) protein trafficking in rabbits.
|
27189953 |
2017 |
|
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
The human ether-a-go-go-related gene (HERG) channel is a novel target for the treatment of drug-induced long QT syndrome, which causes lethal cardiotoxicity.
|
28525371 |
2017 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Tbx20 controls the expression of the KCNH2 gene and of hERG channels.
|
28049825 |
2017 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This was a retrospective review of 349 children with LQTS (mean age at diagnosis, 8.0 ± 5.7 years; mean corrected QT interval, 469 ± 51 ms; long QT syndrome type 1 [LQT1] in 46%, LQT2 in 31%, and LQT3 in 9%) evaluated from 2000 to 2013.
|
28416468 |
2017 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Overexpressing DNAJB14 significantly rescued the defective function of human ether-a-go-go-related gene (hERG) mutant channels associated with long QT syndrome (LQTS), a condition that predisposes to life-threatening arrhythmia, by stabilizing the mutated proteins.
|
27916661 |
2017 |
|
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Among VCG parameters, QTpeak and TwEVs significantly differentiated patients with ecLQTS from controls (P ≤ .01 for each) as well as differentiated KCNQ1-encoded type 1 LQTS (ecLQT1), KCNH2-encoded type 2 LQTS (ecLQT2), and SCN5A-encoded type 3 LQTS (ecLQT3) from controls (P < .01). ecLQT3 was differentiated from controls and ecLQT1 and ecLQT2 by the fourth TwEV (P < .01 for each).
|
28279743 |
2017 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.
|
28087566 |
2017 |
|
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
CTD_human |
(-)-Epicatechin rescues the As2 O3 -induced HERG K+ channel deficiency possibly through upregulating transcription factor SP1 expression.
|
28768059 |
2017 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.
|
28449774 |
2017 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations in KCNH2, which encodes hERG, the alpha subunit of the potassium channel responsible for the I<sub>Kr</sub> current, cause long QT syndrome (LQTS), an inherited cardiac arrhythmia disorder.
|
28544109 |
2017 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We functionally analyzed the KCNH2 (encoding for Kv11.1 or hERG channels) and TBX20 (encoding for the transcription factor Tbx20) variants found by next-generation sequencing in two siblings with LQTS in a Spanish family of African ancestry.
|
28049825 |
2017 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.
|
28449774 |
2017 |
|
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
We, therefore, aimed to assess the effect of age and sex on the QTc interval in children and adolescents with type 1 (LQT1) and type 2 (LQT2) long-QT syndrome.
|
28356306 |
2017 |
|
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Transmission distortion of disease-causing alleles in long QT syndrome (LQTS) has been reported, suggesting a potential role of KCNQ1 and KCNH2 in reproduction.
|
26669661 |
2016 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
|
26669661 |
2016 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two SUD victims carried disease-causing variants in long QT syndrome (LQTS)-associated genes (KCNH2, SCN5A).
|
26846766 |
2016 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
M3 Muscarinic Receptor Signaling Stabilizes a Novel Mutant Human Ether-a-Go-Go-Related Gene Channel Protein via Phosphorylation of Heat Shock Factor 1 in Transfected Cells.
|
27803431 |
2016 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction.
|
26496715 |
2016 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
|
26669661 |
2016 |
|
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the human ether‑à‑go‑go‑related gene (hERG) are responsible for long‑QT syndrome (LQTS) type 2 (LQT2).
|
26847485 |
2016 |