Associated Papers
Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2025
Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
Long-QT mutations in KCNE1 modulate the 17β-estradiol response of Kv7.1/KCNE1.
Erlandsdotter LM et al.
Science Advances, 2023
Genetic predictors of sick sinus syndrome.
Timasheva Y et al.
Molecular Biology Reports, 2021
Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit.
Garmany R et al.
Heart Rhythm, 2020
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Roberts JD et al.
Circulation, 2020
Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.
Chen J et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2020
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 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
Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.
Broendberg AK et al.
European Journal of Human Genetics : Ejhg, 2018
Fatty acid analogue N-arachidonoyl taurine restores function of IKs channels with diverse long QT mutations.
Liin SI et al.
Elife, 2016
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Abbott GW
Gene, 2016
Instability of KCNE1-D85N that causes long QT syndrome: stabilization by verapamil.
Sakata S et al.
Pacing and Clinical Electrophysiology : Pace, 2014
Long QT syndrome. Electrical miscues of the heart.
Unknown Author
Mayo Clinic Health Letter (english Ed.), 2014
Glycine/Serine polymorphism at position 38 influences KCNE1 subunit's modulatory actions on rapid and slow delayed rectifier K+ currents.
Yamaguchi Y et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2014
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.
Zheng R et al.
The Biochemical Journal, 2010
An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.
Sand PG et al.
Genes, 2010
Mechanisms of disease pathogenesis in long QT syndrome type 5.
Harmer SC et al.
American Journal of Physiology. Cell Physiology, 2010
Regulation of the Kv2.1 potassium channel by MinK and MiRP1.
McCrossan ZA et al.
The Journal of Membrane Biology, 2009
Functional interactions between KCNE1 C-terminus and the KCNQ1 channel.
Chen J et al.
Plos One, 2009
Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels.
Seebohm G et al.
Circulation Research, 2008
Functional significance of channels and transporters expressed in the inner ear and kidney.
Lang F et al.
American Journal of Physiology. Cell Physiology, 2007
N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.
Ohno S et al.
Heart Rhythm, 2007
Secondary structure of a KCNE cytoplasmic domain.
Rocheleau JM et al.
The Journal of General Physiology, 2006
Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function.
Wu DM et al.
Heart Rhythm, 2006
Mutations in KCNE1 in long QT syndrome (LQTS): insights into mechanism of LQTS and drug sensitivity?
Vatta M et al.
Heart Rhythm, 2006
Functional coassembly of KCNQ4 with KCNE-beta- subunits in Xenopus oocytes.
Strutz-Seebohm N et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2006
Molecular genetic basis of sudden cardiac death.
Towbin JA
Pediatric Clinics of North America, 2004
Compound mutations: a common cause of severe long-QT syndrome.
Westenskow P et al.
Circulation, 2004
[A novel KCNQ1 mutation in Chinese with congenital long QT syndrome].
Liang L et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2003
Characterization of a novel Long QT syndrome mutation G52R-KCNE1 in a Chinese family.
Ma L et al.
Cardiovascular Research, 2003
Molecular mechanisms underlying the long QT syndrome.
Dumaine R et al.
Current Opinion in Cardiology, 2002
Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system.
Furukawa T et al.
Journal of Molecular Biology, 2001
A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.
Schulze-Bahr E et al.
Journal of Molecular Medicine (berlin, Germany), 2001
Molecular interactions between two long-QT syndrome gene products, HERG and KCNE2, rationalized by in vitro and in silico analysis.
Mazhari R et al.
Circulation Research, 2001
Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs).
Abbott GW et al.
Molecular Interventions, 2001
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
MinK subdomains that mediate modulation of and association with KvLQT1.
Tapper AR et al.
The Journal of General Physiology, 2000
The long QT syndromes: genetic basis and clinical implications.
Chiang CE et al.
Journal of the American College of Cardiology, 2000
Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
Bianchi L et al.
Human Molecular Genetics, 1999
Dysfunction of delayed rectifier potassium channels in an inherited cardiac arrhythmia.
Sanguinetti MC
Annals of the New York Academy of Sciences, 1999
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
Abbott GW et al.
Cell, 1999
Biophysical properties and molecular basis of cardiac rapid and slow delayed rectifier potassium channels.
Mitcheson JS et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 1999
Single-channel characteristics of wild-type IKs channels and channels formed with two minK mutants that cause long QT syndrome.
Sesti F et al.
The Journal of General Physiology, 1998