| High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology. | High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A, Calandranis ME, Li B, Yang T, Blackwell DJ, Harvey ML, Smith JE, Daniel ZA, Chew AE, Capra JA, Matreyek KA, Fowler DM, Roden DM, Glazer AM., Free PMC Article | 09/23/2024 |
| PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant alpha1B-adrenergic receptors. | PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant α(1B)-adrenergic receptors.
Renkhold L, Kollmann R, Inderwiedenstraße L, Kienitz MC. | 04/9/2022 |
| Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk. | Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
Vatta M, Truty R, Garcia J, Callis TE, Hatchell K, Rojahn S, Morales A, Aradhya S, Nussbaum R. | 03/19/2022 |
| Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome. | Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome.
Kim M, Ye D, John Kim CS, Zhou W, Tester DJ, Giudicessi JR, Ackerman MJ. | 02/19/2022 |
| Genetic predictors of sick sinus syndrome. | Genetic predictors of sick sinus syndrome.
Timasheva Y, Badykov M, Akhmadishina L, Nasibullin T, Badykova E, Pushkareva A, Plechev V, Sagitov I, Zagidullin N. | 01/22/2022 |
| A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling. | A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.
Wu X, Perez ME, Noskov SY, Larsson HP., Free PMC Article | 11/13/2021 |
| Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians. | Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians.
Bhatt IS, Dias R, Torkamani A., Free PMC Article | 10/9/2021 |
| KCNE1 is an auxiliary subunit of two distinct ion channel superfamilies. | KCNE1 is an auxiliary subunit of two distinct ion channel superfamilies.
Ávalos Prado P, Häfner S, Comoglio Y, Wdziekonski B, Duranton C, Attali B, Barhanin J, Sandoz G. | 08/28/2021 |
| Elevation of propofol sensitivity of cardiac IKs channel by KCNE1 polymorphism D85N. | Elevation of propofol sensitivity of cardiac I(Ks) channel by KCNE1 polymorphism D85N.
Kojima A, Mi X, Fukushima Y, Ding WG, Omatsu-Kanbe M, Matsuura H. | 07/24/2021 |
| Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK beta-subunit. | Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit.
Garmany R, Giudicessi JR, Ye D, Zhou W, Tester DJ, Ackerman MJ. | 06/19/2021 |
| Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome. | Functional phenotype variations of two novel K(V) 7.1 mutations identified in patients with Long QT syndrome.
Hammami Bomholtz S, Refaat M, Buur Steffensen A, David JP, Espinosa K, Nussbaum R, Wojciak J, Hjorth Bentzen B, Scheinman M, Schmitt N. | 03/6/2021 |
| Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation. | Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.
Kuenze G, Vanoye CG, Desai RR, Adusumilli S, Brewer KR, Woods H, McDonald EF, Sanders CR, George AL Jr, Meiler J., Free PMC Article | 02/27/2021 |
| PKCbetaII specifically regulates KCNQ1/KCNE1 channel membrane localization. | PKCβII specifically regulates KCNQ1/KCNE1 channel membrane localization.
Braun C, Parks XX, Qudsi H, Lopes CM. | 01/23/2021 |
| The rs2236609 Polymorphism Is Related to Increased Risk Susceptibility of Atrial Fibrillation. | The rs2236609 Polymorphism Is Related to Increased Risk Susceptibility of Atrial Fibrillation.
Alzoughool F, Atoum M, Abu-Awad A, Ghanma I, Halalsheh R. | 12/26/2020 |
| The auxiliary subunit KCNE1 regulates KCNQ1 channel response to sustained calcium-dependent PKC activation. | The auxiliary subunit KCNE1 regulates KCNQ1 channel response to sustained calcium-dependent PKC activation.
Xu Parks X, Qudsi H, Braun C, Lopes CMB., Free PMC Article | 10/10/2020 |
| Variations in the potassium voltage-gated channel subfamily E regulatory subunit 1 gene associated with noise-induced hearing loss in the Chinese population. | Variations in the potassium voltage-gated channel subfamily E regulatory subunit 1 gene associated with noise-induced hearing loss in the Chinese population.
Ding E, Wang H, Han L, Zhang H, Zhu B. | 08/29/2020 |
| An arginine/lysine-based motif ([R/K](S)[R/K][R/K]) in the proximal C-terminus regulating the endoplasmic reticulum (ER) export of KCNE1 and KCNE2. | A conserved arginine/lysine-based motif promotes ER export of KCNE1 and KCNE2 to regulate KCNQ1 channel activity.
Hu B, Zeng WP, Li X, Al-Sheikh U, Chen SY, Ding J., Free PMC Article | 07/18/2020 |
| Data suggest that the presence of two potentially active genes potassium voltage-gated channel subfamily E regulatory subunit 1 (KCNE1) and potassium voltage-gated channel subfamily E regulatory subunit 1B (KCNE1B) needs to be clarified for the inheritance pattern of long QT syndrome (LQT5). | The potential presence of the highly similar paralogue gene KCNE1B blurs the genetic basis of KCNE1-LQTS patients.
Pantou MP, Gourzi P, Degiannis D., Free PMC Article | 06/20/2020 |
| proximal COOH-terminal regions of KCNQ1 and KCNE1 participate in a physical and functional interaction during channel opening that is sensitive to perturbation and may explain the clustering of long QT mutations in the region | Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.
Chen J, Liu Z, Creagh J, Zheng R, McDonald TV., Free PMC Article | 05/9/2020 |
| heterozygotes for loss-of-function variants of KCNE1 may have normal QT intervals while biallelic null alleles are associated with JLNS2, indicating a complex genotype-phenotype spectrum for KCNE1 variants | Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB., Free PMC Article | 03/14/2020 |
| analysis of KCNQ1 and of KCNE1 genes in Iranian Jervell and Lange-Nielsen syndrome populations reveals that there is a novel mutation in KCNQ1, c.1356 1356delG, as well as a common single nucleotide polymorphism, c.112G > A, in KCNE1 | Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome.
Vojdani S, Amirsalari S, Milanizadeh S, Molaei F, Ajalloueyane M, Khosravi A, Hamzehzadeh L, Ghasemi MM, Talee MR, Abbaszadegan MR. | 02/29/2020 |
| PKCepsilon isoenzyme mediates the inhibitory action of Angiotensin II on slowly activating delayed rectifier K(+) curren and by phosphorylating distinct sites in KCNQ1/KCNE1, cPKC and PKCepsilon isoenzymes produce the contrary regulatory effects on the channel. | Protein kinase C epsilon mediates the inhibition of angiotensin II on the slowly activating delayed-rectifier potassium current through channel phosphorylation.
Gou X, Wang W, Zou S, Qi Y, Xu Y. | 06/29/2019 |
| there was a correlation between QTc length and methadone dosage in KCNE1 rs11911509 SNP AA genotype carriers | QT length during methadone maintenance treatment: gene × dose interaction.
Zerdazi EH, Vorspan F, Marees AT, Naccache F, Lepine JP, Laplanche JL, Prince N, Marie-Claire C, Bellivier F, Mouly S, Bloch V. | 04/13/2019 |
| We propose that KCNE1 moves the S5-P-helix loop of KV7.1 towards the polyunsaturated fatty acid-binding site, which indirectly causes polyunsaturated fatty acid protonation, thereby reducing the effect of polyunsaturated fatty acids on KV7.1. | KCNE1 tunes the sensitivity of K(V)7.1 to polyunsaturated fatty acids by moving turret residues close to the binding site.
Larsson JE, Larsson HP, Liin SI., Free PMC Article | 03/30/2019 |
| relatively common variants in KCNE1 may result in a mild QT phenotype designated as "LQT5-Lite" to distinguish such potentially proarrhythmic common variants (ie, functional risk alleles) from rare pathogenic variants that truly confer monogenic disease susceptibility, albeit with incomplete penetrance. | Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.
Lane CM, Giudicessi JR, Ye D, Tester DJ, Rohatgi RK, Bos JM, Ackerman MJ., Free PMC Article | 02/23/2019 |