Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein.
Li B et al.
Biochemical and Biophysical Research Communications, 2024
Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report.
Tamayo-Trujillo R et al.
Frontiers in Genetics, 2024
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Yu Y et al.
Expert Reviews in Molecular Medicine, 2023
AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature.
Huynh MT et al.
Genes, 2022
Cardiac K+ Channels and Channelopathies.
Schreiber JA et al.
Handbook of Experimental Pharmacology, 2021
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Impaired Adrenergic/Protein Kinase A Response of Slow Delayed Rectifier Potassium Channels as a Long QT Syndrome Motif: Importance and Unknowns.
Policarová M et al.
The Canadian Journal of Cardiology, 2019
The genetic architecture of long QT syndrome: A critical reappraisal.
Giudicessi JR et al.
Trends in Cardiovascular Medicine, 2018
Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.
Suryavanshi SV et al.
Journal of Cardiovascular Development and Disease, 2018
Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.
Maltese PE et al.
International Heart Journal, 2017
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
Cardiac Delayed Rectifier Potassium Channels in Health and Disease.
Chen L et al.
Cardiac Electrophysiology Clinics, 2016
Recent molecular insights from mutated IKS channels in cardiac arrhythmia.
Dvir M et al.
Current Opinion in Pharmacology, 2014
Defective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathies.
Kline CF et al.
Biochimica Et Biophysica Acta, 2014
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 2012
The A-kinase anchoring protein Yotiao facilitates complex formation between adenylyl cyclase type 9 and the IKs potassium channel in heart.
Li Y et al.
The Journal of Biological Chemistry, 2012
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1.
Heijman J et al.
Circulation Research, 2012
A-kinase anchoring protein 9 and IKs channel regulation.
Chen L et al.
Journal of Cardiovascular Pharmacology, 2011
Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins.
Ackerman MJ et al.
Circulation Research, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
From Fifth Business to Protagonist: the complex roles of ion channel anchors in cardiac arrhythmia.
Kline CF et al.
Drug Discovery Today. Disease Models, 2009
Mutation of an A-kinase-anchoring protein causes long-QT syndrome.
Chen L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007