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: 1663C>T; Arg555Cys

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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Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences

, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF

Publication Date: 2023-02-24

Variant appearance in text: KCNQ1: 1663C>T; Arg555Cys

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: KCNQ1: 1663C>T; Arg555Cys

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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: R555C

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: R555C

PubMed Link: 34907346

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2909.pdf

View BVdb publication page

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Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.

Clinical And Translational Medicine

Chen, Lulan L; He, Yue Y; Wang, Xiangdong X; Ge, Junbo J; Li, Hua H

Publication Date: 2021-10

Variant appearance in text: Kv7.1: R555C

PubMed Link: 34709746

Variant Present in the following documents:

• Main text
• CTM2-11-e530.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: 1663C>T; Arg555Cys; rs120074185

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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Insights into Cardiac IKs (KCNQ1/KCNE1) Channels Regulation.

International Journal Of Molecular Sciences

Wu, Xiaoan X; Larsson, H Peter HP

Publication Date: 2020-12-11

Variant appearance in text: KCNQ1: R555C

PubMed Link: 33322401

Variant Present in the following documents:

• Main text
• ijms-21-09440.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: 1663C>T; Arg555Cys

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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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: LQT1: R555C

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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Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine

Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM

Publication Date: 2020-09

Variant appearance in text: KCNQ1: 1663C>T; Arg555Cys

PubMed Link: 32383558

Variant Present in the following documents:

• MGG3-8-e1300-s001.xlsx, sheet 1

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: 1663C>T; R555C

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: R555C

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: 1663C>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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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNQ1: R555C

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

Bmc Medical Genetics

Uysal, Fahrettin F; Turkgenc, Burcu B; Toksoy, Guven G; Bostan, Ozlem M OM; Evke, Elif E; Uyguner, Oya O; Yakicier, Cengiz C; Kayserili, Hulya H; Cil, Ergun E; Temel, Sehime G SG

Publication Date: 2017-10-16

Variant appearance in text: KCNQ1: Arg555Cys

PubMed Link: 29037160

Variant Present in the following documents:

• Main text
• 12881_2017_Article_474.pdf

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: 1663C>T; Arg555Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

Journal Of The American College Of Cardiology

Lahrouchi, Najim N; Raju, Hariharan H; Lodder, Elisabeth M EM; Papatheodorou, Efstathios E; Ware, James S JS; Papadakis, Michael M; Tadros, Rafik R; Cole, Della D; Skinner, Jonathan R JR; Crawford, Jackie J; Love, Donald R DR; Pua, Chee J CJ; Soh, Bee Y BY; Bhalshankar, Jaydutt D JD; Govind, Risha R; Tfelt-Hansen, Jacob J; Winkel, Bo G BG; van der Werf, Christian C; Wijeyeratne, Yanushi D YD; Mellor, Greg G; Till, Jan J; Cohen, Marta C MC; Tome-Esteban, Maria M; Sharma, Sanjay S; Wilde, Arthur A M AAM; Cook, Stuart A SA; Bezzina, Connie R CR; Sheppard, Mary N MN; Behr, Elijah R ER

Publication Date: 2017-05-02

Variant appearance in text: KCNQ1: R555C

PubMed Link: 28449774

Variant Present in the following documents:

• Main text
• main.pdf

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: LQT1: R555C

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: R555C

PubMed Link: 27761162

Variant Present in the following documents:

• Main text
• main.pdf

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: R555C

PubMed Link: 26745405

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetics underlying acquired long QT syndrome: impact for genetic screening.

European Heart Journal

Itoh, Hideki H; Crotti, Lia L; Aiba, Takeshi T; Spazzolini, Carla C; Denjoy, Isabelle I; Fressart, Véronique V; Hayashi, Kenshi K; Nakajima, Tadashi T; Ohno, Seiko S; Makiyama, Takeru T; Wu, Jie J; Hasegawa, Kanae K; Mastantuono, Elisa E; Dagradi, Federica F; Pedrazzini, Matteo M; Yamagishi, Masakazu M; Berthet, Myriam M; Murakami, Yoshitaka Y; Shimizu, Wataru W; Guicheney, Pascale P; Schwartz, Peter J PJ; Horie, Minoru M

Publication Date: 2016-05-07

Variant appearance in text: KCNQ1: R555C

PubMed Link: 26715165

Variant Present in the following documents:

• Main text

View BVdb publication page

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Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

European Journal Of Human Genetics : Ejhg

Itoh, Hideki H; Berthet, Myriam M; Fressart, Véronique V; Denjoy, Isabelle I; Maugenre, Svetlana S; Klug, Didier D; Mizusawa, Yuka Y; Makiyama, Takeru T; Hofman, Nynke N; Stallmeyer, Birgit B; Zumhagen, Sven S; Shimizu, Wataru W; Wilde, Arthur A M AA; Schulze-Bahr, Eric E; Horie, Minoru M; Tezenas du Montcel, Sophie S; Guicheney, Pascale P

Publication Date: 2016-08

Variant appearance in text: LQT1: R555C

PubMed Link: 26669661

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: R555C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: R555C

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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PIP₂-dependent coupling is prominent in Kv7.1 due to weakened interactions between S4-S5 and S6.

Scientific Reports

Kasimova, Marina A MA; Zaydman, Mark A MA; Cui, Jianmin J; Tarek, Mounir M

Publication Date: 2015-01-06

Variant appearance in text: Kv7.1: R555C

PubMed Link: 25559286

Variant Present in the following documents:

• Main text
• srep07474.pdf
• srep07474-s1.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: LQT1: R555C

PubMed Link: 25479336

Variant Present in the following documents:

• Main text

View BVdb publication page

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LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms.

Cardiovascular Research

Aromolaran, Ademuyiwa S AS; Subramanyam, Prakash P; Chang, Donald D DD; Kobertz, William R WR; Colecraft, Henry M HM

Publication Date: 2014-12-01

Variant appearance in text: KCNQ1: R555C

PubMed Link: 25344363

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.

Journal Of Cell Science

Dvir, Meidan M; Strulovich, Roi R; Sachyani, Dana D; Ben-Tal Cohen, Inbal I; Haitin, Yoni Y; Dessauer, Carmen C; Pongs, Olaf O; Kass, Robert R; Hirsch, Joel A JA; Attali, Bernard B

Publication Date: 2014-09-15

Variant appearance in text: KCNQ1: R555C

PubMed Link: 25037568

Variant Present in the following documents:

• Main text

View BVdb publication page

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PIP2 regulation of KCNQ channels: biophysical and molecular mechanisms for lipid modulation of voltage-dependent gating.

Frontiers In Physiology

Zaydman, Mark A MA; Cui, Jianmin J

Publication Date: 2014

Variant appearance in text: KCNQ1: R555C

PubMed Link: 24904429

Variant Present in the following documents:

• Main text
• fphys-05-00195.pdf

View BVdb publication page

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A long QT mutation substitutes cholesterol for phosphatidylinositol-4,5-bisphosphate in KCNQ1 channel regulation.

Plos One

Coyan, Fabien C FC; Abderemane-Ali, Fayal F; Amarouch, Mohamed Yassine MY; Piron, Julien J; Mordel, Jérôme J; Nicolas, Céline S CS; Steenman, Marja M; Mérot, Jean J; Marionneau, Céline C; Thomas, Annick A; Brasseur, Robert R; Baró, Isabelle I; Loussouarn, Gildas G

Publication Date: 2014

Variant appearance in text: KCNQ1: R555C

PubMed Link: 24681627

Variant Present in the following documents:

• Main text
• pone.0093255.pdf

View BVdb publication page

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Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.

Journal Of The American Heart Association

Couderc, Jean-Philippe JP; Xia, Xiaojuan X; Denjoy, Isabelle I; Extramiana, Fabrice F; Maison-Blanche, Pierre P; Moss, Arthur J AJ; Zareba, Wojciech W; Lopes, Coeli M CM

Publication Date: 2012-04

Variant appearance in text: LQT1: R555C

PubMed Link: 23130128

Variant Present in the following documents:

• Main text
• jah3-1-e000570.pdf

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: R555C

PubMed Link: 22787448

Variant Present in the following documents:

• Main text
• fphar-03-00125.pdf

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: R555C

PubMed Link: 22456477

Variant Present in the following documents:

• Main text

View BVdb publication page

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KCNE1 enhances phosphatidylinositol 4,5-bisphosphate (PIP2) sensitivity of IKs to modulate channel activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Li, Yang Y; Zaydman, Mark A MA; Wu, Dick D; Shi, Jingyi J; Guan, Michael M; Virgin-Downey, Brett B; Cui, Jianmin J

Publication Date: 2011-05-31

Variant appearance in text: KCNQ1: R555C

PubMed Link: 21576493

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

The Journal Of General Physiology

Eldstrom, Jodene J; Xu, Hongjian H; Werry, Daniel D; Kang, Congbao C; Loewen, Matthew E ME; Degenhardt, Amanda A; Sanatani, Shubhayan S; Tibbits, Glen F GF; Sanders, Charles C; Fedida, David D

Publication Date: 2010-05

Variant appearance in text: KCNQ1: R555C

PubMed Link: 20421371

Variant Present in the following documents:

• Main text

View BVdb publication page

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Channelopathies linked to plasma membrane phosphoinositides.

Pflugers Archiv : European Journal Of Physiology

Logothetis, Diomedes E DE; Petrou, Vasileios I VI; Adney, Scott K SK; Mahajan, Rahul R

Publication Date: 2010-07

Variant appearance in text: Kv7.1: R555C

PubMed Link: 20396900

Variant Present in the following documents:

• Main text

View BVdb publication page

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A carboxy-terminal inter-helix linker as the site of phosphatidylinositol 4,5-bisphosphate action on Kv7 (M-type) K+ channels.

The Journal Of General Physiology

Hernandez, Ciria C CC; Zaika, Oleg O; Shapiro, Mark S MS

Publication Date: 2008-09

Variant appearance in text: Kv7.1: R555C

PubMed Link: 18725531

Variant Present in the following documents:

• Main text
• jgp1320361.pdf

View BVdb publication page

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Kv7.1 (KCNQ1) properties and channelopathies.

The Journal Of Physiology

Peroz, David D; Rodriguez, Nicolas N; Choveau, Frank F; Baró, Isabelle I; Mérot, Jean J; Loussouarn, Gildas G

Publication Date: 2008-04-01

Variant appearance in text: KCNQ1: R555C

PubMed Link: 18174212

Variant Present in the following documents:

• Main text

View BVdb publication page

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Drug-induced torsades de pointes and implications for drug development.

Journal Of Cardiovascular Electrophysiology

Fenichel, Robert R RR; Malik, Marek M; Antzelevitch, Charles C; Sanguinetti, Michael M; Roden, Dan M DM; Priori, Silvia G SG; Ruskin, Jeremy N JN; Lipicky, Raymond J RJ; Cantilena, Louis R LR; ,

Publication Date: 2004-04

Variant appearance in text: KCNQ1: R555C

PubMed Link: 15090000

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternative splicing of KCNQ2 potassium channel transcripts contributes to the functional diversity of M-currents.

The Journal Of Physiology

Pan, Z Z; Selyanko, A A AA; Hadley, J K JK; Brown, D A DA; Dixon, J E JE; McKinnon, D D

Publication Date: 2001-03-01

Variant appearance in text: KCNQ1: R555C

PubMed Link: 11230508

Variant Present in the following documents:

• Main text

View BVdb publication page

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