Associated Papers
Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias.
Chamoieva A et al.
Journal of Personalized Medicine, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Common Methylenetetrahydrofolate Reductase Polymorphism MTHFR 677C>T (rs1801133), Plasma Homocysteine, and Non-Valvular Atrial Fibrillation in Overweight/Obese Patients: Causality Indicated by Mediation and One-Sample Mendelian Randomization Analysis.
Levicki R et al.
Diagnostics (basel, Switzerland), 2025
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
Investigation the Impact of KCNE1-rs1805127 Polymorphism on Cardiac Patients with Atrial Fibrillation.
Shirzad Kebria Z et al.
Genetic Testing and Molecular Biomarkers, 2025
Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics.
Dib Nehme R et al.
Journal of the American Heart Association, 2025
The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.
Boulmpou A et al.
Journal of Personalized Medicine, 2025
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
Escitalopram-induced QTc prolongation and its relationship with KCNQ1, KCNE1, and KCNH2 gene polymorphisms.
Chen Z et al.
Journal of Affective Disorders, 2024
Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.
Badura K et al.
International Journal of Molecular Sciences, 2024
Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.
Popa-Fotea NM et al.
International Journal of Molecular Sciences, 2023
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Biorxiv : the Preprint Server for Biology, 2023
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
Chelleri C et al.
Human Mutation, 2023
Polymodal Control of TMEM16x Channels and Scramblases.
Agostinelli E et al.
International Journal of Molecular Sciences, 2022
A Case Report of Genetic Cascade Screening in Dilated Cardiomyopathy: A Perspective for Preventive Cardiology.
Barati Z et al.
Iranian Journal of Public Health, 2021
Genetic predictors of sick sinus syndrome.
Timasheva Y et al.
Molecular Biology Reports, 2021
Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
Vatta M et al.
Circulation. Genomic and Precision Medicine, 2021
KCNE1 is an auxiliary subunit of two distinct ion channel superfamilies.
Ávalos Prado P et al.
Cell, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
The C-terminal HCN4 variant P883R alters channel properties and acts as genetic modifier of atrial fibrillation and structural heart disease.
Weigl I et al.
Biochemical and Biophysical Research Communications, 2019
The potential presence of the highly similar paralogue gene KCNE1B blurs the genetic basis of KCNE1-LQTS patients.
Pantou MP et al.
European Journal of Human Genetics : Ejhg, 2019
Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome.
Vojdani S et al.
Fetal and Pediatric Pathology, 2019
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R et al.
Human Mutation, 2019
Genetic Association Study in Multigenerational Kindreds With Vasovagal Syncope: Evidence for Involvement of Sex-Specific Serotonin Signaling.
Sheldon R et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Ondansetron blocks wild-type and p.F503L variant small-conductance Ca2+-activated K+ channels.
Ko JS et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2018
Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives.
Kasai-Brunswick TH et al.
Stem Cell Research, 2018
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.
Yokoyama R et al.
Heart and Vessels, 2018
Mutation in KCNE1 associated to early repolarization syndrome by modulation of slowly activating delayed rectifier K+ current.
Yao H et al.
Experimental Cell Research, 2018
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.
Giudicessi JR et al.
Circulation, 2018
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.
Leong IUS et al.
Medical Sciences (basel, Switzerland), 2017
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
Nishimura M et al.
Bmc Medical Genetics, 2017
Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory.
Chae H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
From Single Variants to Protein Cascades: MULTISCALE MODELING OF SINGLE NUCLEOTIDE VARIANT SETS IN GENETIC DISORDERS.
Mueller SC et al.
The Journal of Biological Chemistry, 2016
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Abbott GW
Gene, 2016
QTc prolongation in patients with hearing loss: Electrocardiographic and genetic study.
Sanecka A et al.
Cardiology Journal, 2016
Genetic modulators of the phenotype in the long QT syndrome: state of the art and clinical impact.
Napolitano C et al.
Current Opinion in Genetics & Development, 2015
Genetic variants of potassium voltage-gated channel genes (KCNQ1, KCNH2, and KCNE1) affected the risk of atrial fibrillation in elderly patients.
Li L et al.
Genetic Testing and Molecular Biomarkers, 2015
The role of acid-sensitive two-pore domain potassium channels in cardiac electrophysiology: focus on arrhythmias.
Decher N et al.
Pflugers Archiv : European Journal of Physiology, 2015
Genetic variants in KCNE1, KCNQ1, and NOS1AP in sudden unexplained death during daily activities in Chinese Han population.
Huang J et al.
Journal of Forensic Sciences, 2015
Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.
Millat G et al.
Molecular Diagnosis & Therapy, 2014
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
Single-nucleotide variations in cardiac arrhythmias: prospects for genomics and proteomics based biomarker discovery and diagnostics.
Abunimer A et al.
Genes, 2014
High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.
Klassen TL et al.
Epilepsia, 2014
Genetic diversity of the KCNE1 gene and susceptibility to postoperative atrial fibrillation.
Voudris KV et al.
American Heart Journal, 2014