Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 727C>T; Arg243Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics in drug-induced cardiotoxicity: Current status and the future.

Frontiers In Cardiovascular Medicine

Li, Mo-Yun MY; Peng, Li-Ming LM; Chen, Xiao-Ping XP

Publication Date: 2022

Variant appearance in text: KCNQ1: 727C>T

PubMed Link: 36312261

Variant Present in the following documents:

• Main text
• fcvm-09-966261.pdf

View BVdb publication page

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Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine

Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W

Publication Date: 2022

Variant appearance in text: LQT1: R243C

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Journal Of The American Heart Association

Yee, Lauren A LA; Han, Hui-Chen HC; Davies, Brianna B; Pearman, Charles M CM; Laksman, Zachary W M ZWM; Roberts, Jason D JD; Steinberg, Christian C; Tadros, Rafik R; Cadrin-Tourigny, Julia J; Simpson, Christopher S CS; Gardner, Martin M; MacIntyre, Ciorsti C; Arbour, Laura L; Leather, Richard R; Fournier, Anne A; Green, Martin S MS; Kimber, Shane S; Angaran, Paul P; Sanatani, Shubhayan S; Joza, Jacqueline J; Khan, Habib H; Healey, Jeffrey S JS; Atallah, Joseph J; Seifer, Colette C; Krahn, Andrew D AD

Publication Date: 2022-09-20

Variant appearance in text: KCNQ1: Arg243Cys

PubMed Link: 36102233

Variant Present in the following documents:

• JAH3-11-e025108.pdf
• JAH3-11-e025108-s001.pdf

View BVdb publication page

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PKC regulation of ion channels: The involvement of PIP2.

The Journal Of Biological Chemistry

Gada, Kirin D KD; Logothetis, Diomedes E DE

Publication Date: 2022-06

Variant appearance in text: KCNQ1: R243C

PubMed Link: 35588786

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.

International Journal Of Molecular Sciences

Cócera-Ortega, Lucía L; Wilders, Ronald R; Kamps, Selina C SC; Fabrizi, Benedetta B; Huber, Irit I; van der Made, Ingeborg I; van den Bout, Anouk A; de Vries, Dylan K DK; Gepstein, Lior L; Verkerk, Arie O AO; Pinto, Yigal M YM; Tijsen, Anke J AJ

Publication Date: 2022-04-06

Variant appearance in text: LQT1: R243C

PubMed Link: 35409410

Variant Present in the following documents:

• Main text
• ijms-23-04053.pdf

View BVdb publication page

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Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology

Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB

Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: R243C

PubMed Link: 34907346

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2909.pdf

View BVdb publication page

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Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology

Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB

Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: R243C

PubMed Link: 34907346

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2909.pdf

View BVdb publication page

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Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

European Heart Journal

Schwartz, Peter J PJ; Moreno, Cristina C; Kotta, Maria-Christina MC; Pedrazzini, Matteo M; Crotti, Lia L; Dagradi, Federica F; Castelletti, Silvia S; Haugaa, Kristina H KH; Denjoy, Isabelle I; Shkolnikova, Maria A MA; Brink, Paul A PA; Heradien, Marshall J MJ; Seyen, Sandrine R M SRM; Spätjens, Roel L H M G RLHMG; Spazzolini, Carla C; Volders, Paul G A PGA

Publication Date: 2021-12-07

Variant appearance in text: KCNQ1: R243C

PubMed Link: 34505893

Variant Present in the following documents:

• Main text

View BVdb publication page

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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Journal Of Arrhythmia

Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Juang, Jyh-Ming Jimmy JJ; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW

Publication Date: 2021-06

Variant appearance in text: KCNQ1: R243C

PubMed Link: 34141003

Variant Present in the following documents:

• JOA3-37-481-s001.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: KCNQ1: 727C>T; Arg243Cys; rs199472713

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Heart Rhythm

Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Jimmy Juang, Jyh-Ming JM; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW

Publication Date: 2021-01

Variant appearance in text: KCNQ1: R243C

PubMed Link: 33091602

Variant Present in the following documents:

• NIHMS1704401-supplement-supplementary_Appendix_3.pdf

View BVdb publication page

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR

Publication Date: 2021-01

Variant appearance in text: KCNQ1: 727C>T

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: KCNQ1: R243C

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: KCNQ1: R243C

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fphar-11-00550.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNQ1: 727C>T; R243C

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Heritability in genetic heart disease: the role of genetic background.

Open Heart

Jansweijer, Joeri A JA; van Spaendonck-Zwarts, Karin Y KY; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Christiaans, Imke I; van der Smagt, Jasper J; Vermeer, Alexa A; Bos, J Martijn JM; Moss, Arthur J AJ; Swan, Heikki H; Priori, Sylvia G SG; Rydberg, Annika A; Tfelt-Hansen, Jacob J; Ackerman, Michael J MJ; Olivotto, Iacopo I; Charron, Philippe P; Gimeno, Juan R JR; van den Berg, Maarten M; Wilde, Arthur A M AAM; Pinto, Yigal M YM

Publication Date: 2019

Variant appearance in text: KCNQ1: R243C

PubMed Link: 31245010

Variant Present in the following documents:

• openhrt-2018-000929supp001.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KCNQ1: 727C>T

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Probing the Dynamics and Structural Topology of the Reconstituted Human KCNQ1 Voltage Sensor Domain (Q1-VSD) in Lipid Bilayers Using Electron Paramagnetic Resonance Spectroscopy.

Biochemistry

Dixit, Gunjan G; Sahu, Indra D ID; Reynolds, Warren D WD; Wadsworth, Tessa M TM; Harding, Benjamin D BD; Jaycox, Colleen K CK; Dabney-Smith, Carole C; Sanders, Charles R CR; Lorigan, Gary A GA

Publication Date: 2019-02-19

Variant appearance in text: KCNQ1: R243C

PubMed Link: 30620191

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.

Journal Of The American Heart Association

Gibbs, Charlotte C; Thalamus, Jacob J; Tveten, Kristian K; Busk, Øyvind L ØL; Hysing, Jan J; Haugaa, Kristina H KH; Holla, Øystein L ØL

Publication Date: 2018-08-21

Variant appearance in text: KCNQ1: Arg243Cys

PubMed Link: 30369311

Variant Present in the following documents:

• JAH3-7-e009706.pdf
• JAH3-7-e009706-s001.pdf

View BVdb publication page

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Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

Plos One

Marcondes, Luciana L; Crawford, Jackie J; Earle, Nikki N; Smith, Warren W; Hayes, Ian I; Morrow, Paul P; Donoghue, Tom T; Graham, Amanda A; Love, Donald D; Skinner, Jonathan R JR; ,

Publication Date: 2018

Variant appearance in text: KCNQ1: 727C>T; R243C

PubMed Link: 29672598

Variant Present in the following documents:

• Main text
• pone.0196078.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: KCNQ1: 727C>T; rs199472713

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNQ1: 727C>T; Arg243Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews

Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS

Publication Date: 2017-01

Variant appearance in text: KCNQ1: R243C

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular pathogenesis of long QT syndrome type 1.

Journal Of Arrhythmia

Wu, Jie J; Ding, Wei-Guang WG; Horie, Minoru M

Publication Date: 2016-10

Variant appearance in text: KCNQ1: R243C

PubMed Link: 27761162

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: KCNQ1: 727C>T; Arg243Cys

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: KCNQ1: 727C>T; R243C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Biophysical Journal

Cui, Jianmin J

Publication Date: 2016-01-05

Variant appearance in text: KCNQ1: R243C

PubMed Link: 26745405

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT1: R243C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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.

Heart Rhythm

Ruwald, Martin H MH; Xu Parks, Xiaorong X; Moss, Arthur J AJ; Zareba, Wojciech W; Baman, Jayson J; McNitt, Scott S; Kanters, Jorgen K JK; Shimizu, Wataru W; Wilde, Arthur A AA; Jons, Christian C; Lopes, Coeli M CM

Publication Date: 2016-01

Variant appearance in text: LQT1: R243C

PubMed Link: 26318259

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNQ1: R243C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

Frontiers In Cellular Neuroscience

Mousavi Nik, Atefeh A; Gharaie, Somayeh S; Jeong Kim, Hyo H

Publication Date: 2015

Variant appearance in text: Kv7.1: R243C

PubMed Link: 25705178

Variant Present in the following documents:

• Main text
• fncel-09-00032.pdf

View BVdb publication page

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Impaired IKs channel activation by Ca(2+)-dependent PKC shows correlation with emotion/arousal-triggered events in LQT1.

Journal Of Molecular And Cellular Cardiology

O-Uchi, Jin J; Rice, J Jeremy JJ; Ruwald, Martin H MH; Parks, Xiaorong Xu XX; Ronzier, Elsa E; Moss, Arthur J AJ; Zareba, Wojciech W; Lopes, Coeli M CM

Publication Date: 2015-02

Variant appearance in text: KCNQ1: R243C

PubMed Link: 25479336

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hexachlorophene is a potent KCNQ1/KCNE1 potassium channel activator which rescues LQTs mutants.

Plos One

Zheng, Yueming Y; Zhu, Xuejing X; Zhou, Pingzheng P; Lan, Xi X; Xu, Haiyan H; Li, Min M; Gao, Zhaobing Z

Publication Date: 2012

Variant appearance in text: KCNQ1: R243C

PubMed Link: 23251633

Variant Present in the following documents:

• Main text

View BVdb publication page

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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders

Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A

Publication Date: 2012-10-25

Variant appearance in text: KCNQ1: 727C>T; R243C

PubMed Link: 23098067

Variant Present in the following documents:

• Main text
• 1471-2261-12-95.pdf

View BVdb publication page

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KCNQ1 channels do not undergo concerted but sequential gating transitions in both the absence and the presence of KCNE1 protein.

The Journal Of Biological Chemistry

Meisel, Eshcar E; Dvir, Meidan M; Haitin, Yoni Y; Giladi, Moshe M; Peretz, Asher A; Attali, Bernard B

Publication Date: 2012-10-05

Variant appearance in text: KCNQ1: R243C

PubMed Link: 22908235

Variant Present in the following documents:

• Main text

View BVdb publication page

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Opposite Effects of the S4-S5 Linker and PIP(2) on Voltage-Gated Channel Function: KCNQ1/KCNE1 and Other Channels.

Frontiers In Pharmacology

Choveau, Frank S FS; Abderemane-Ali, Fayal F; Coyan, Fabien C FC; Es-Salah-Lamoureux, Zeineb Z; Baró, Isabelle I; Loussouarn, Gildas G

Publication Date: 2012

Variant appearance in text: KCNQ1: R243C

PubMed Link: 22787448

Variant Present in the following documents:

• Main text

View BVdb publication page

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Regulation of Voltage-Activated K(+) Channel Gating by Transmembrane β Subunits.

Frontiers In Pharmacology

Sun, Xiaohui X; Zaydman, Mark A MA; Cui, Jianmin J

Publication Date: 2012

Variant appearance in text: KCNQ1: R243C

PubMed Link: 22529812

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.

Circulation

Barsheshet, Alon A; Goldenberg, Ilan I; O-Uchi, Jin J; Moss, Arthur J AJ; Jons, Christian C; Shimizu, Wataru W; Wilde, Arthur A AA; McNitt, Scott S; Peterson, Derick R DR; Zareba, Wojciech W; Robinson, Jennifer L JL; Ackerman, Michael J MJ; Cypress, Michael M; Gray, Daniel A DA; Hofman, Nynke N; Kanters, Jorgen K JK; Kaufman, Elizabeth S ES; Platonov, Pyotr G PG; Qi, Ming M; Towbin, Jeffrey A JA; Vincent, G Michael GM; Lopes, Coeli M CM

Publication Date: 2012-04-24

Variant appearance in text: LQT1: R243C

PubMed Link: 22456477

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

European Heart Journal

Amin, Ahmad S AS; Giudicessi, John R JR; Tijsen, Anke J AJ; Spanjaart, Anne M AM; Reckman, Yolan J YJ; Klemens, Christine A CA; Tanck, Michael W MW; Kapplinger, Jamie D JD; Hofman, Nynke N; Sinner, Moritz F MF; Müller, Martina M; Wijnen, Wino J WJ; Tan, Hanno L HL; Bezzina, Connie R CR; Creemers, Esther E EE; Wilde, Arthur A M AA; Ackerman, Michael J MJ; Pinto, Yigal M YM

Publication Date: 2012-03

Variant appearance in text: KCNQ1: R243C

PubMed Link: 22199116

Variant Present in the following documents:

• Main text
• ehr473.pdf

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Phenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Liu, Judy F JF; Goldenberg, Ilan I; Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A AA; Hofman, Nynke N; McNitt, Scott S; Zareba, Wojciech W; Miyamato, Yoshihiro Y; Robinson, Jennifer L JL; Andrews, Mark L ML

Publication Date: 2008-07

Variant appearance in text: KCNQ1: R243C

PubMed Link: 18713323

Variant Present in the following documents:

• Main text

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KCNE1 constrains the voltage sensor of Kv7.1 K+ channels.

Plos One

Shamgar, Liora L; Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B

Publication Date: 2008-04-09

Variant appearance in text: Kv7.1: R243C

PubMed Link: 18398469

Variant Present in the following documents:

• Main text
• pone.0001943.pdf

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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation

Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S

Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: R243C

PubMed Link: 17470695

Variant Present in the following documents:

• Main text

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