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XB--5921461
Papers associated with kcnq1 (and OMIM)
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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):  |
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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. |
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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.  |
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Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome., Adams DS, Uzel SG, Akagi J, Wlodkowic D, Andreeva V, Yelick PC, Devitt-Lee A, Pare JF, Levin M., J Physiol. June 15, 2016; 594 (12): 3245-70.  |
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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.  |
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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.  |
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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. |
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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. |
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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. |
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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. |
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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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