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Summary Expression Phenotypes Gene Literature (190) GO Terms (26) Nucleotides (140) Proteins (57) Interactants (149) Wiki
XB--5921461

Papers associated with kcnq1 (and Disease Ontology)



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Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants., Rinné S, Oertli A, Nagel C, Tomsits P, Jenewein T, Kääb S, Kauferstein S, Loewe A, Beckmann BM, Decher N., Int J Mol Sci. January 10, 2023; 24 (2):                       

Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels., Edmond MA, Hinojo-Perez A, Wu X, Perez Rodriguez ME, Barro-Soria R., Elife. June 1, 2022; 11                           

Pharmacological rescue of specific long QT variants of KCNQ1/KCNE1 channels., Zou X, Wu X, Sampson KJ, Colecraft HM, Larsson HP, Kass RS., Front Physiol. January 1, 2022; 13 902224.                      

Virus-Host Interactions of Enteroviruses and Parvovirus B19 in Myocarditis., Ho HT, Peischard S, Strutz-Seebohm N, Seebohm G., Cell Physiol Biochem. November 18, 2021; 55 (6): 679-703.        

Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano-Ward Syndrome: Functional Characterization by Mutant Co-expression., González-Garrido A, Domínguez-Pérez M, Jacobo-Albavera L, López-Ramírez O, Guevara-Chávez JG, Zepeda-García O, Iturralde P, Carnevale A, Villarreal-Molina T., Front Cardiovasc Med. February 22, 2021; 8 625449.

Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness., Oertli A, Rinné S, Moss R, Kääb S, Seemann G, Beckmann BM, Decher N., Int J Mol Sci. January 23, 2021; 22 (3):             

Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I., Maghera J, Li J, Lamothe SM, Braun M, Appendino JP, Au PYB, Kurata HT., Epilepsia Open. December 1, 2020; 5 (4): 562-573.          

In vitro and in vivo characterization of Lu AA41178: A novel, brain penetrant, pan-selective Kv7 potassium channel opener with efficacy in preclinical models of epileptic seizures and psychiatric disorders., Grupe M, Bentzen BH, Benned-Jensen T, Nielsen V, Frederiksen K, Jensen HS, Jacobsen AM, Skibsbye L, Sams AG, Grunnet M, Rottländer M, Bastlund JF., Eur J Pharmacol. November 15, 2020; 887 173440.

Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results., Chua HC, Servatius H, Asatryan B, Schaller A, Rieubland C, Noti F, Seiler J, Roten L, Baldinger SH, Tanner H, Fuhrer J, Haeberlin A, Lam A, Pless SA, Medeiros-Domingo A., Clin Res Cardiol. August 1, 2018; 107 (8): 670-678.

Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening., Hou P, Eldstrom J, Shi J, Zhong L, McFarland K, Gao Y, Fedida D, Cui J., Nat Commun. November 23, 2017; 8 (1): 1730.                            

Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling., Lee HC, Lee HC, Rudy Y, Liang H, Chen CC, Luo CH, Sheu SH, Cui J., J Med Biol Eng. October 1, 2017; 37 (5): 780-789.          

Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome., Refaat MM, El Hage L, Steffensen AB, Hotait M, Schmitt N, Scheinman M, Badhwar N., Card Electrophysiol Clin. March 1, 2016; 8 (1): 247-56.

High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance., Steffensen AB, Refaat MM, David JP, Mujezinovic A, Calloe K, Wojciak J, Nussbaum RL, Scheinman MM, Schmitt N., Sci Rep. January 12, 2015; 5 10009.              

Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1., Aidery P, Kisselbach J, Schweizer PA, Becker R, Katus HA, Thomas D., Gene. December 10, 2012; 511 (1): 26-33.        

Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process., Tsuji-Wakisaka K, Akao M, Ishii TM, Ashihara T, Makiyama T, Ohno S, Toyoda F, Dochi K, Matsuura H, Horie M., Biochim Biophys Acta. November 1, 2011; 1812 (11): 1452-9.

Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability., Aidery P, Kisselbach J, Schweizer PA, Becker R, Katus HA, Thomas D., Biochim Biophys Acta. April 1, 2011; 1812 (4): 488-94.

Structural basis of slow activation gating in the cardiac I Ks channel complex., Strutz-Seebohm N, Pusch M, Wolf S, Stoll R, Tapken D, Gerwert K, Attali B, Seebohm G., Cell Physiol Biochem. January 1, 2011; 27 (5): 443-52.

Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene., Tsuji K, Akao M, Ishii TM, Ohno S, Makiyama T, Takenaka K, Doi T, Haruna Y, Yoshida H, Nakashima T, Kita T, Horie M., J Mol Cell Cardiol. March 1, 2007; 42 (3): 662-9.

A constitutively open potassium channel formed by KCNQ1 and KCNE3., Schroeder BC, Waldegger S, Fehr S, Bleich M, Warth R, Greger R, Jentsch TJ., Nature. January 13, 2000; 403 (6766): 196-9.

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness., Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ., Cell. February 5, 1999; 96 (3): 437-46.

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