Associated Papers
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
Fanidis D et al.
Genomics, 2026
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.
Du F et al.
Medicine, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Pharmacoperone drugs: targeting misfolded proteins causing lysosomal storage-, ion channels-, and G protein-coupled receptors-associated conformational disorders.
Hou ZS et al.
Expert Review of Clinical Pharmacology, 2018
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
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
Izumi G et al.
Pediatric Cardiology, 2016
Structure of the Cyclic Nucleotide-Binding Homology Domain of the hERG Channel and Its Insight into Type 2 Long QT Syndrome.
Li Y et al.
Scientific Reports, 2016
The enigmatic cytoplasmic regions of KCNH channels.
Morais-Cabral JH et al.
Journal of Molecular Biology, 2015
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.
Zhang KP et al.
Acta Pharmacologica Sinica, 2014
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.
Crotti L et al.
Journal of the American College of Cardiology, 2012
Activation of human ether-a-go-go related gene (hERG) potassium channels by small molecules.
Zhou PZ et al.
Acta Pharmacologica Sinica, 2011
Reciprocal control of hERG stability by Hsp70 and Hsc70 with implication for restoration of LQT2 mutant stability.
Li P et al.
Circulation Research, 2011
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.
Nishio Y et al.
Journal of the American College of Cardiology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications.
Tan HL et al.
Circulation, 2006
Pharmacogenetics and cardiac ion channels.
Roepke TK et al.
Vascular Pharmacology, 2006
Identification of the cyclic-nucleotide-binding domain as a conserved determinant of ion-channel cell-surface localization.
Akhavan A et al.
Journal of Cell Science, 2005
Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndrome.
Delisle BP et al.
Molecular Pharmacology, 2005
New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.
Gouas L et al.
Cardiovascular Research, 2004
Biology of cardiac arrhythmias: ion channel protein trafficking.
Delisle BP et al.
Circulation Research, 2004
Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome.
Teng S et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Is restoration of intracellular trafficking clinically feasible in the long QT syndrome?: The example of HERG mutations.
Kaufman ES et al.
Journal of Cardiovascular Electrophysiology, 2003
Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-à-go-go-Related Gene.
Roti EC et al.
The Journal of Biological Chemistry, 2002
Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.
Moss AJ et al.
Circulation, 2002
The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations.
Ficker E et al.
The Journal of Biological Chemistry, 2002
Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2.
Cui J et al.
The Journal of Biological Chemistry, 2001
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000