| 1 | INPP5J, KCNE1, KCNQ1
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| Phosphatidylinositol-4,5-bisphosphate is required for KCNQ1/KCNE1 channel function but not anterograde trafficking.
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| Royal AA, Tinker A, Harmer SC.
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| PLoS One 12(10):e0186293. doi: 10.1371/journal.pone.0186293. eCollection 2017.
2017
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| 2 | KCNQ1, LQT1
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| Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.
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| Ruwald MH, Xu Parks X, Moss AJ, Zareba W, Baman J, McNitt S, Kanters JK, Shimizu W, Wilde AA, Jons C, Lopes CM.
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| Heart Rhythm 13(1):122-31. doi: 10.1016/j.hrthm.2015.08.033. Epub 2015 Aug 28.
2016
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| 3 | KCNE1, KCNQ1, SGMS1
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| Regulation of membrane KCNQ1/KCNE1 channel density by sphingomyelin synthase 1.
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| Wu M, Takemoto M, Taniguchi M, Takumi T, Okazaki T, Song WJ.
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| Am J Physiol Cell Physiol 311(1):C15-23. doi: 10.1152/ajpcell.00272.2015. Epub 2016 May 18.
2016
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| 4 | CALML3, KCNQ1
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| An Epithelial Ca2+-Sensor Protein is an Alternative to Calmodulin to Compose Functional KCNQ1 Channels.
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| Inanobe A, Tsuzuki C, Kurachi Y.
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| Cell Physiol Biochem 36(5):1847-61.
2015
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| 5 | KCNQ1, SQT2
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| A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.
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| Moreno C, Oliveras A, de la Cruz A, Bartolucci C, Muñoz C, Salar E, Gimeno JR, Severi S, Comes N, Felipe A, González T, Lambiase P, Valenzuela C.
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| Cardiovasc Res 107(4):613-23. doi: 10.1093/cvr/cvv196. Epub 2015 Jul 13.
2015
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| 6 | KCNE3, KCNQ1
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| KCNE3 acts by promoting voltage sensor activation in KCNQ1.
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| Barro-Soria R, Perez ME, Larsson HP.
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| Proc Natl Acad Sci U S A 112(52):E7286-92. doi: 10.1073/pnas.1516238112. Epub 2015 Dec 14.
2015
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| 7 | KCNQ1
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| Enhancers compete with a long non-coding RNA for regulation of the Kcnq1 domain.
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| Schultz BM, Gallicio GA, Cesaroni M, Lupey LN, Engel N.
|
| Nucleic Acids Res 43(2):745-59. doi: 10.1093/nar/gku1324. Epub 2014 Dec 24.
2015
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| 8 | KCNQ1
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| Structural analysis of the S4-S5 linker of the human KCNQ1 potassium channel.
|
| Gayen S, Li Q, Kang C.
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| Biochem Biophys Res Commun 456(1):410-4. doi: 10.1016/j.bbrc.2014.11.097. Epub 2014 Dec 2.
2015
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| 9 | JLNS1, KCNQ1
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| Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
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| Al-Aama JY, Al-Ghamdi S, Bdier AY, AlQarawi A, Jiman OA, Al-Aama N, Al-Aata J, Wilde AA, Bhuiyan ZA.
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| Clin Genet 87(1):74-9. doi: 10.1111/cge.12330. Epub 2013 Dec 27.
2015
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| 10 | BACE1, KCNE1, KCNQ1
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| BACE1 modulates gating of KCNQ1 (Kv7.1) and cardiac delayed rectifier KCNQ1/KCNE1 (IKs).
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| Agsten M, Hessler S, Lehnert S, Volk T, Rittger A, Hartmann S, Raab C, Kim DY, Groemer TW, Schwake M, Alzheimer C, Huth T.
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| J Mol Cell Cardiol 89(Pt B):335-48. doi: 10.1016/j.yjmcc.2015.10.006. Epub 2015 Oct 8.
2015
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| 11 | KCNE1, KCNQ1, OXSR1, STK39
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| SPAK and OSR1 Sensitive Cell Membrane Protein Abundance and Activity of KCNQ1/E1 K+ Channels.
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| Elvira B, Warsi J, Fezai M, Munoz C, Lang F.
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| Cell Physiol Biochem 37(5):2032-42. doi: 10.1159/000438563. Epub 2015 Nov 20.
2015
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| 12 | KCNQ1, LQT1
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| Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.
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| Harmer SC, Mohal JS, Royal AA, McKenna WJ, Lambiase PD, Tinker A.
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| Biochem J 462(1):133-42. doi: 10.1042/BJ20140425.
2014
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| 13 | KCNE1, KCNE2, KCNQ1
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| Differential modulations of KCNQ1 by auxiliary proteins KCNE1 and KCNE2.
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| Li P, Liu H, Lai C, Sun P, Zeng W, Wu F, Zhang L, Wang S, Tian C, Ding J.
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| Sci Rep 4:4973. doi: 10.1038/srep04973.
2014
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| 14 | KCNQ1
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| Purification and structural study of the voltage-sensor domain of the human KCNQ1 potassium ion channel.
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| Peng D, Kim JH, Kroncke BM, Law CL, Xia Y, Droege KD, Van Horn WD, Vanoye CG, Sanders CR.
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| Biochemistry 53(12):2032-42. doi: 10.1021/bi500102w. Epub 2014 Mar 18.
2014
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| 15 | KCNE1, KCNQ1, KL
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| Upregulation of KCNQ1/KCNE1 K+ channels by Klotho.
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| Almilaji A, Pakladok T, Muñoz C, Elvira B, Sopjani M, Lang F.
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| Channels (Austin) 8(3):222-9.
2014
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| 16 | KCNQ1, KCNQ5
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| Functional assembly of Kv7.1/Kv7.5 channels with emerging properties on vascular muscle physiology.
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| Oliveras A, Roura-Ferrer M, Solé L, de la Cruz A, Prieto A, Etxebarria A, Manils J, Morales-Cano D, Condom E, Soler C, Cogolludo A, Valenzuela C, Villarroel A, Comes N, Felipe A.
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| Arterioscler Thromb Vasc Biol 34(7):1522-30. doi: 10.1161/ATVBAHA.114.303801. Epub 2014 May 22.
2014
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| 17 | KCNH2, KCNQ1
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| Interactions between hERG and KCNQ1 α-subunits are mediated by their COOH termini and modulated by cAMP.
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| Organ-Darling LE, Vernon AN, Giovanniello JR, Lu Y, Moshal K, Roder K, Li W, Koren G.
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| Am J Physiol Heart Circ Physiol 304(4):H589-99. doi: 10.1152/ajpheart.00385.2012. Epub 2012 Dec 15.
2013
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| 18 | KCNQ1
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| Characterization of a novel mutant KCNQ1 channel subunit lacking a large part of the C-terminal domain.
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| Kimoto K, Kinoshita K, Yokoyama T, Hata Y, Komatsu T, Tsushima E, Nishide K, Yamaguchi Y, Mizumaki K, Tabata T, Inoue H, Nishida N, Fukurotani K.
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| Biochem Biophys Res Commun 440(2):283-8. doi: 10.1016/j.bbrc.2013.09.075. Epub 2013 Sep 23.
2013
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| 19 | KCNQ1
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| Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.
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| Zaydman MA, Silva JR, Delaloye K, Li Y, Liang H, Larsson HP, Shi J, Cui J.
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| Proc Natl Acad Sci U S A 110(32):13180-5. doi: 10.1073/pnas.1305167110. Epub 2013 Jul 16.
2013
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| 20 | KCNQ1
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| Modulation of KCNQ1 alternative splicing regulates cardiac IKs and action potential repolarization.
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| Lee HC, Rudy Y, Po-Yuan P, Sheu SH, Chang JG, Cui J.
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| Heart Rhythm 10(8):1220-8. doi: 10.1016/j.hrthm.2013.04.014. Epub 2013 Apr 19.
2013
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| 21 | ATFB3, KCNQ1
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| A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.
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| Bartos DC, Anderson JB, Bastiaenen R, Johnson JN, Gollob MH, Tester DJ, Burgess DE, Homfray T, Behr ER, Ackerman MJ, Guicheney P, Delisle BP.
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| J Cardiovasc Electrophysiol 24(5):562-9. doi: 10.1111/jce.12068. Epub 2013 Jan 25.
2013
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| 22 | KCNE1, KCNQ1
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| Trafficking of the IKs -complex in MDCK cells: site of subunit assembly and determinants of polarized localization.
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| David JP, Andersen MN, Olesen SP, Rasmussen HB, Schmitt N.
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| Traffic 14(4):399-411. doi: 10.1111/tra.12042. Epub 2013 Feb 13.
2013
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| 23 | KCNQ1, KCNQ1OT1
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| The Kcnq1ot1 long non-coding RNA affects chromatin conformation and expression of Kcnq1, but does not regulate its imprinting in the developing heart.
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| Korostowski L, Sedlak N, Engel N.
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| PLoS Genet 8(9):e1002956. doi: 10.1371/journal.pgen.1002956. Epub 2012 Sep 20.
2012
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| 24 | KCNQ1
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| Allosteric gating mechanism underlies the flexible gating of KCNQ1 potassium channels.
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| Osteen JD, Barro-Soria R, Robey S, Sampson KJ, Kass RS, Larsson HP.
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| Proc Natl Acad Sci U S A 109(18):7103-8. doi: 10.1073/pnas.1201582109. Epub 2012 Apr 16.
2012
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| 25 | KCNQ1
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| AMP-activated protein kinase downregulates Kv7.1 cell surface expression.
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| Andersen MN, Krzystanek K, Jespersen T, Olesen SP, Rasmussen HB.
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| Traffic 13(1):143-56. doi: 10.1111/j.1600-0854.2011.01295.x. Epub 2011 Oct 26.
2012
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| 26 | KCNE1, KCNQ1
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| KCNQ1 channels do not undergo concerted but sequential gating transitions in both the absence and the presence of KCNE1 protein.
|
| Meisel E, Dvir M, Haitin Y, Giladi M, Peretz A, Attali B.
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| J Biol Chem 287(41):34212-24. doi: 10.1074/jbc.M112.364901. Epub 2012 Aug 20.
2012
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| 27 | KCNE1, KCNQ1
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| Regulation of KCNQ1/KCNE1 by β-catenin.
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| Wilmes J, Haddad-Tóvolli R, Alesutan I, Munoz C, Sopjani M, Pelzl L, Bogatikov E, Fedele G, Faggio C, Seebohm G, Föller M, Lang F.
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| Mol Membr Biol 29(3-4):87-94. doi: 10.3109/09687688.2012.678017. Epub 2012 May 14.
2012
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| 28 | KCNE4, KCNQ1
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| KCNE4 juxtamembrane region is required for interaction with calmodulin and for functional suppression of KCNQ1.
|
| Ciampa EJ, Welch RC, Vanoye CG, George AL Jr.
|
| J Biol Chem 286(6):4141-9. Epub 2010 Nov 30.
2011
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| 29 | KCNA3, KCNE2, KCNQ1
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| KCNE2 forms potassium channels with KCNA3 and KCNQ1 in the choroid plexus epithelium.
|
| Roepke TK, Kanda VA, Purtell K, King EC, Lerner DJ, Abbott GW.
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| FASEB J 25(12):4264-73. doi: 10.1096/fj.11-187609. Epub 2011 Aug 22.
2011
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| 30 | KCNQ1, LQT1
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| Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.
|
| Summers KM, Bokil NJ, Lu FT, Low JT, Baisden JM, Duffy D, Radford DJ.
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| Am J Med Genet A 152A(3):613-21.PMID: 20186784 2010
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| 31 | KCNE1, KCNQ1
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| Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.
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| Zheng R, Thompson K, Obeng-Gyimah E, Alessi D, Chen J, Cheng H, McDonald TV.
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| Biochem J 428(1):75-84.PMID: 20196769 2010
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| 32 | FTO, HMGA2, HNF1A, IRS1, KCNJ11, KCNQ1, KLF14, PPARG
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| Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
|
| Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Langenberg C, Hofmann OM, Dupuis J, Qi L, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Bengtsson Boström K, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Couper DJ, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Klopp N, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Perry JR, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet-Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Mohlke KL, Morris AD, Palmer CN, Pramstaller PP, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Wareham NJ, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Hu FB, Meigs JB, Pankow JS, Pedersen O, Wichmann HE, Barroso I, Florez JC, Frayling TM, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI; MAGIC investigators; GIANT Consortium.
|
| Nat Genet 42(7):579-89.PMID: 20581827 2010
|
| 33 | KCNE1, KCNQ1
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| KCNE1 alters the voltage sensor movements necessary to open the KCNQ1 channel gate.
|
| Osteen JD, Gonzalez C, Sampson KJ, Iyer V, Rebolledo S, Larsson HP, Kass RS.
|
| Proc Natl Acad Sci U S A 107(52):22710-5. Epub 2010 Dec 13.
2010
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| 34 | KCNE1, KCNQ1
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| Stoichiometry of the KCNQ1 - KCNE1 ion channel complex.
|
| Nakajo K, Ulbrich MH, Kubo Y, Isacoff EY.
|
| Proc Natl Acad Sci U S A 107(44):18862-7. Epub 2010 Oct 20.
2010
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| 35 | KCNE1, KCNQ1
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| Identification of a protein-protein interaction between KCNE1 and the activation gate machinery of KCNQ1.
|
| Lvov A, Gage SD, Berrios VM, Kobertz WR.
|
| J Gen Physiol 135(6):607-18. Epub 2010 May 17.
2010
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| 36 | KCNQ1
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| Evaluation of channel function after alteration of amino acid residues at the pore center of KCNQ1 channel.
|
| Ikrar T, Hanawa H, Watanabe H, Aizawa Y, Ramadan MM, Chinushi M, Horie M, Aizawa Y.
|
| Biochem Biophys Res Commun 378(3):589-94. Epub 2008 Dec 3.
2009
|
| 37 | KCNQ1, LQT1
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| Congenital long QT syndrome caused by the F275S KCNQ1 mutation: mechanism of impaired channel function.
|
| Li W, Wang QF, Du R, Xu QM, Ke QM, Wang B, Chen XL, Tian L, Zhang SY, Kang CL, Guan SM, Yang JG, Song ZF.
|
| Biochem Biophys Res Commun 380(1):127-31. Epub 2009 Jan 22.
2009
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| 38 | KCNQ1, LQT1
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| LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1.
|
| Peroz D, Dahimène S, Baró I, Loussouarn G, Mérot J.
|
| J Biol Chem 284(8):5250-6. Epub 2008 Dec 29.
2009
|
| 39 | KCNQ1, LQT1
|
| The G314S KCNQ1 mutation exerts a dominant-negative effect on expression of KCNQ1 channels in oocytes.
|
| Li W, Du R, Wang QF, Tian L, Yang JG, Song ZF.
|
| Biochem Biophys Res Commun 383(2):206-9. Epub 2009 Apr 5.
2009
|
| 40 | KCNQ1
|
| Common variants in KCNQ1 are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.
|
| Qi Q, Li H, Loos RJ, Liu C, Wu Y, Hu FB, Wu H, Lu L, Yu Z, Lin X.
|
| Hum Mol Genet 18(18):3508-15. Epub 2009 Jun 25.PMID: 19556355 2009
|
| 41 | KCNE2, KCNQ1
|
| Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis.
|
| Roepke TK, King EC, Reyna-Neyra A, Paroder M, Purtell K, Koba W, Fine E, Lerner DJ, Carrasco N, Abbott GW.
|
| Nat Med 15(10):1186-94. Epub 2009 Sep 20.PMID: 19767733 2009
|
| 42 | KCNQ1, LQT1
|
| Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.
|
| Sato A, Arimura T, Makita N, Ishikawa T, Aizawa Y, Ushinohama H, Aizawa Y, Kimura A.
|
| J Biol Chem 284(50):35122-33. Epub 2009 Oct 13.PMID: 19825999 2009
|
| 43 | KCNE1, KCNQ1
|
| Intracellular domains interactions and gated motions of I(KS) potassium channel subunits.
|
| Haitin Y, Wiener R, Shaham D, Peretz A, Cohen EB, Shamgar L, Pongs O, Hirsch JA, Attali B.
|
| EMBO J 28(14):1994-2005. Epub 2009 Jun 11.
2009
|
| 44 | KCNE1, KCNQ1
|
| Functional interactions between KCNE1 C-terminus and the KCNQ1 channel.
|
| Chen J, Zheng R, Melman YF, McDonald TV.
|
| PLoS One 4(4):e5143. Epub 2009 Apr 2.
2009
|
| 45 | KCNE4, KCNQ1
|
| KCNE4 domains required for inhibition of KCNQ1.
|
| Manderfield LJ, Daniels MA, Vanoye CG, George AL Jr.
|
| J Physiol 587(Pt 2):303-14. Epub 2008 Nov 24.
2009
|
| 46 | KCNQ1, KCNQ5
|
| Skeletal muscle Kv7 (KCNQ) channels in myoblast differentiation and proliferation.
|
| Roura-Ferrer M, SolŽ L, Mart’nez-M‡rmol R, Villalonga N, Felipe A.
|
| Biochem Biophys Res Commun 369(4):1094-7. Epub 2008 Mar 10. 2008
|
| 47 | KCNQ1
|
| Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.
|
| Yasuda K, Miyake K, Horikawa Y, Hara K, Osawa H, Furuta H, Hirota Y, Mori H, Jonsson A, Sato Y, Yamagata K, Hinokio Y, Wang HY, Tanahashi T, Nakamura N, Oka Y, Iwasaki N, Iwamoto Y, Yamada Y, Seino Y, Maegawa H, Kashiwagi A, Takeda J, Maeda E, Shin HD, Cho YM, Park KS, Lee HK, Ng MC, Ma RC, So WY, Chan JC, Lyssenko V, Tuomi T, Nilsson P, Groop L, Kamatani N, Sekine A, Nakamura Y, Yamamoto K, Yoshida T, Tokunaga K, Itakura M, Makino H, Nanjo K, Kadowaki T, Kasuga M.
|
| Nat Genet at Genet. 2008 Aug 17. [Epub ahead of print]
2008
|
| 48 | KCNQ1
|
| SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.
|
| Unoki H, Takahashi A, Kawaguchi T, Hara K, Horikoshi M, Andersen G, Ng DP, Holmkvist J, Borch-Johnsen K, Jørgensen T, Sandbæk A, Lauritzen T, Hansen T, Nurbaya S, Tsunoda T, Kubo M, Babazono T, Hirose H, Hayashi M, Iwamoto Y, Kashiwagi A, Kaku K, Kawamori R, Tai ES, Pedersen O, Kamatani N, Kadowaki T, Kikkawa R, Nakamura Y, Maeda S.
|
| Nat Genet at Genet. 2008 Aug 17. [Epub ahead of print]
2008
|
| 49 | KCNQ1, KCNQ3, KCNQ5
|
| Multiple KCNQ potassium channel subtypes mediate basal anion secretion from the human airway epithelial cell line Calu-3.
|
| Moser SL, Harron SA, Crack J, Fawcett JP, Cowley EA.
|
| J Membr Biol 221(3):153-63. Epub 2008 Feb 9.PMID: 18264812 2008
|
| 50 | KCNQ1, LQT1
|
| A double-point mutation in the selectivity filter site of the KCNQ1 potassium channel results in a severe phenotype, LQT1, of long QT syndrome.
|
| Ikrar T, Hanawa H, Watanabe H, Okada S, Aizawa Y, Ramadan MM, Komura S, Yamashita F, Chinushi M, Aizawa Y.
|
| J Cardiovasc Electrophysiol 19(5):541-9. Epub 2008 Feb 4.PMID: 18266681 2008
|
| 51 | KCNH2, KCNQ1
|
| Cardiac potassium channel dysfunction in sudden infant death syndrome.
|
| Rhodes TE, Abraham RL, Welch RC, Vanoye CG, Crotti L, Arnestad M, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Rognum T, Roden DM, Schwartz PJ, George AL Jr.
|
| J Mol Cell Cardiol 44(3):571-81. Epub 2007 Dec 7.PMID: 18222468 2008
|
| 52 | KCNE1, KCNQ1
|
| Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel.
|
| Kang C, Tian C, Sönnichsen FD, Smith JA, Meiler J, George AL Jr, Vanoye CG, Kim HJ, Sanders CR.
|
| Biochemistry 47(31):7999-8006. Epub 2008 Jul 9.
2008
|
| 53 | KCNE1, KCNE4, KCNQ1
|
| KCNE4 can co-associate with the I(Ks) (KCNQ1-KCNE1) channel complex.
|
| Manderfield LJ, George AL Jr.
|
| FEBS J 275(6):1336-49. Epub 2008 Feb 14.
2008
|
| 54 | KCNE1, KCNQ1
|
| Regulation of endocytic recycling of KCNQ1/KCNE1 potassium channels.
|
| Seebohm G, Strutz-Seebohm N, Birkin R, Dell G, Bucci C, Spinosa MR, Baltaev R, Mack AF, Korniychuk G, Choudhury A, Marks D, Pagano RE, Attali B, Pfeufer A, Kass RS, Sanguinetti MC, Tavare JM, Lang F.
|
| Circ Res 100(5):686-92. Epub 2007 Feb 9.
2007
|
| 55 | KCNQ1
|
| The KCNQ1 potassium channel is down-regulated by ubiquitylating enzymes of the Nedd4/Nedd4-like family.
|
| Jespersen T, Membrez M, Nicolas CS, Pitard B, Staub O, Olesen SP, Baró I, Abriel H.
|
| Cardiovasc Res 74(1):64-74. Epub 2007 Jan 16.
2007
|
| 56 | KCNQ1, LQT1
|
| 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 42(3):662-9. Epub 2007 Jan 5.
2007
|
| 57 | KCNQ1, LQT1
|
| Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
|
| Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S.
|
| Circulation 115(19):2481-9. Epub 2007 Apr 30.
2007
|
| 58 | KCNE2, KCNQ1
|
| Probing the interaction between KCNE2 and KCNQ1 in their transmembrane regions.
|
| Liu XS, Zhang M, Jiang M, Wu DM, Tseng GN.
|
| J Membr Biol 216(2-3):117-27. Epub 2007 Aug 4.PMID: 17676362 2007
|
| 59 | KCNQ1, LQT1, KCNE1, KCNE2, LQT5, LQT6, SCN5A, LQT3, KCNH2, LQT2
|
| Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
| Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzalez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.
|
| Clin Genet 70(3):214-27. 2006
|
| 60 | JLNS1, KCNQ1
|
| Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome.
|
| Zehelein J, Kathoefer S, Khalil M, Alter M, Thomas D, Brockmeier K, Ulmer HE, Katus HA, Koenen M.
|
| J Biol Chem 281(46):35397-403. Epub 2006 Sep 19.
2006
|
| 61 | KCNQ1, LQT1
|
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