Publications:

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: 1882G>A; rs121912507

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

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Gene- and variant-specific efficacy of serum/glucocorticoid-regulated kinase 1 inhibition in long QT syndrome types 1 and 2.

Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology

Giannetti, Federica F; Barbieri, Miriam M; Shiti, Assad A; Casini, Simona S; Sager, Philip T PT; Das, Saumya S; Pradhananga, Sabindra S; Srinivasan, Dinesh D; Nimani, Saranda S; Alerni, Nicolò N; Louradour, Julien J; Mura, Manuela M; Gnecchi, Massimiliano M; Brink, Paul P; Zehender, Manfred M; Koren, Gideon G; Zaza, Antonio A; Crotti, Lia L; Wilde, Arthur A M AAM; Schwartz, Peter J PJ; Remme, Carol Ann CA; Gepstein, Lior L; Sala, Luca L; Odening, Katja E KE

Publication Date: 2023-04-26

Variant appearance in text: KCNH2: G628S

PubMed Link: 37099628

Variant Present in the following documents:

• Main text
• euad094.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 1882G>A; Gly628Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: LQT2: G628S

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Congenital long QT syndrome: A challenging diagnosis by fetal echocardiography.

Annals Of Pediatric Cardiology

Santi, Aura Daniella AD; Restrepo, Miguel M

Publication Date: 2022

Variant appearance in text: KCNH2: 1882G>A; Gly628Ser

PubMed Link: 35847401

Variant Present in the following documents:

• Main text
• APC-15-64.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: Kv11.1: G628S

PubMed Link: 34709746

Variant Present in the following documents:

• Main text
• CTM2-11-e530.pdf

View BVdb publication page

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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

Jama Pediatrics

, ; Krantz, Ian D ID; Medne, Livija L; Weatherly, Jamila M JM; Wild, K Taylor KT; Biswas, Sawona S; Devkota, Batsal B; Hartman, Tiffiney T; Brunelli, Luca L; Fishler, Kristen P KP; Abdul-Rahman, Omar O; Euteneuer, Joshua C JC; Hoover, Denise D; Dimmock, David D; Cleary, John J; Farnaes, Lauge L; Knight, Jason J; Schwarz, Adam J AJ; Vargas-Shiraishi, Ofelia M OM; Wigby, Kristin K; Zadeh, Neda N; Shinawi, Marwan M; Wambach, Jennifer A JA; Baldridge, Dustin D; Cole, F Sessions FS; Wegner, Daniel J DJ; Urraca, Nora N; Holtrop, Shannon S; Mostafavi, Roya R; Mroczkowski, Henry J HJ; Pivnick, Eniko K EK; Ward, Jewell C JC; Talati, Ajay A; Brown, Chester W CW; Belmont, John W JW; Ortega, Julia L JL; Robinson, Keisha D KD; Brocklehurst, W Tyler WT; Perry, Denise L DL; Ajay, Subramanian S SS; Hagelstrom, R Tanner RT; Bennett, Maren M; Rajan, Vani V; Taft, Ryan J RJ

Publication Date: 2021-12-01

Variant appearance in text: KCNH2: 1882G>A; Gly628Ser

PubMed Link: 34570182

Variant Present in the following documents:

• jamapediatr-e213496-s003.xlsx, sheet 1
• jamapediatr-e213496-s003.xlsx, sheet 4

View BVdb publication page

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A comparative review on heart ion channels, action potentials and electrocardiogram in rodents and human: extrapolation of experimental insights to clinic.

Laboratory Animal Research

Joukar, Siyavash S

Publication Date: 2021-09-08

Variant appearance in text: HERG: G628S

PubMed Link: 34496976

Variant Present in the following documents:

• 42826_2021_Article_102.pdf

View BVdb publication page

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Regulation of Kv11.1 Isoform Expression by Polyadenylate Binding Protein Nuclear 1.

International Journal Of Molecular Sciences

Stump, Matthew R MR; Nguyen, Rachel T RT; Drgastin, Rachel H RH; Search, Delaney D; Gong, Qiuming Q; Zhou, Zhengfeng Z

Publication Date: 2021-01-16

Variant appearance in text: HERG: G628S

PubMed Link: 33467093

Variant Present in the following documents:

• ijms-22-00863.pdf

View BVdb publication page

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The role of calcium homeostasis remodeling in inherited cardiac arrhythmia syndromes.

Pflugers Archiv : European Journal Of Physiology

Hamilton, Shanna S; Veress, Roland R; Belevych, Andriy A; Terentyev, Dmitry D

Publication Date: 2021-03

Variant appearance in text: KCNH2: G628S

PubMed Link: 33404893

Variant Present in the following documents:

• Main text
• 424_2020_Article_2505.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: KCNH2: 1882G>A; Gly628Ser

PubMed Link: 32893267

Variant Present in the following documents:

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

View BVdb publication page

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Transgenic Rabbit Models in Proarrhythmia Research.

Frontiers In Pharmacology

Baczkó, István I; Hornyik, Tibor T; Brunner, Michael M; Koren, Gideon G; Odening, Katja E KE

Publication Date: 2020

Variant appearance in text: HERG: G628S

PubMed Link: 32581808

Variant Present in the following documents:

• Main text
• fphar-11-00853.pdf

View BVdb publication page

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Transgenic LQT2, LQT5, and LQT2-5 rabbit models with decreased repolarisation reserve for prediction of drug-induced ventricular arrhythmias.

British Journal Of Pharmacology

Hornyik, Tibor T; Castiglione, Alessandro A; Franke, Gerlind G; Perez-Feliz, Stefanie S; Major, Péter P; Hiripi, László L; Koren, Gideon G; Bősze, Zsuzsanna Z; Varró, András A; Zehender, Manfred M; Brunner, Michael M; Bode, Christoph C; Baczkó, István I; Odening, Katja E KE

Publication Date: 2020-08

Variant appearance in text: HERG: G628S

PubMed Link: 32436214

Variant Present in the following documents:

• Main text
• BPH-177-3744.pdf

View BVdb publication page

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Clarithromycin inhibits autophagy in colorectal cancer by regulating the hERG1 potassium channel interaction with PI3K.

Cell Death & Disease

Petroni, Giulia G; Bagni, Giacomo G; Iorio, Jessica J; Duranti, Claudia C; Lottini, Tiziano T; Stefanini, Matteo M; Kragol, Goran G; Becchetti, Andrea A; Arcangeli, Annarosa A

Publication Date: 2020-03-02

Variant appearance in text: Kv11.1: G628S

PubMed Link: 32123164

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.

International Journal Of Molecular Sciences

Pourrier, Marc M; Fedida, David D

Publication Date: 2020-01-19

Variant appearance in text: KCNH2: G628S

PubMed Link: 31963859

Variant Present in the following documents:

• Main text
• ijms-21-00657.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: KCNH2: 1882G>A; G628S

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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NCX-Mediated Subcellular Ca2+ Dynamics Underlying Early Afterdepolarizations in LQT2 Cardiomyocytes.

Biophysical Journal

Zhong, Mingwang M; Rees, Colin M CM; Terentyev, Dmitry D; Choi, Bum-Rak BR; Koren, Gideon G; Karma, Alain A

Publication Date: 2018-09-18

Variant appearance in text: KCNH2: G628S

PubMed Link: 30173888

Variant Present in the following documents:

• Main text

View BVdb publication page

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Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science

Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH

Publication Date: 2018-08-06

Variant appearance in text: KCNH2: G628S

PubMed Link: 30079003

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanisms linking T-wave alternans to spontaneous initiation of ventricular arrhythmias in rabbit models of long QT syndrome.

The Journal Of Physiology

Liu, Weiqing W; Kim, Tae Yun TY; Huang, Xiaodong X; Liu, Michael B MB; Koren, Gideon G; Choi, Bum-Rak BR; Qu, Zhilin Z

Publication Date: 2018-04-15

Variant appearance in text: KCNH2: G628S

PubMed Link: 29377142

Variant Present in the following documents:

• Main text

View BVdb publication page

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hERG1a and hERG1b potassium channel subunits directly interact and preferentially form heteromeric channels.

The Journal Of Biological Chemistry

McNally, Beth A BA; Pendon, Zeus D ZD; Trudeau, Matthew C MC

Publication Date: 2017-12-29

Variant appearance in text: LQT2: G628S

PubMed Link: 29089383

Variant Present in the following documents:

• Main text

View BVdb publication page

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Electrophysiological alterations in a murine model of chronic coxsackievirus B3 myocarditis.

Plos One

Kaese, Sven S; Larbig, Robert R; Rohrbeck, Matthias M; Frommeyer, Gerrit G; Dechering, Dirk D; Olligs, Jan J; Schönhofer-Merl, Sabine S; Wessely, Rainer R; Klingel, Karin K; Seebohm, Guiscard G; Eckardt, Lars L

Publication Date: 2017

Variant appearance in text: HERG: G628S

PubMed Link: 28644868

Variant Present in the following documents:

• pone.0180029.pdf

View BVdb publication page

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Current state of the art for cardiac arrhythmia gene therapy.

Pharmacology & Therapeutics

Donahue, J Kevin JK

Publication Date: 2017-08

Variant appearance in text: KCNH2: G628S

PubMed Link: 28642118

Variant Present in the following documents:

• Main text

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: KCNH2: 1882G>A; Gly628Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Improving Atrial Fibrillation Therapy: Is There a Gene for That?

Journal Of The American College Of Cardiology

Hucker, William J WJ; Hanley, Alan A; Ellinor, Patrick T PT

Publication Date: 2017-04-25

Variant appearance in text: KCNH2: G628S

PubMed Link: 28427583

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)

Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z

Publication Date: 2017-12

Variant appearance in text: KCNH2: G628S

PubMed Link: 28316956

Variant Present in the following documents:

• Main text
• 40709_2017_Article_63.pdf

View BVdb publication page

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Murine Electrophysiological Models of Cardiac Arrhythmogenesis.

Physiological Reviews

Huang, Christopher L-H CL

Publication Date: 2017-01

Variant appearance in text: HERG: G628S

PubMed Link: 27974512

Variant Present in the following documents:

• Main text

View BVdb publication page

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Potassium currents in the heart: functional roles in repolarization, arrhythmia and therapeutics.

The Journal Of Physiology

Chiamvimonvat, Nipavan N; Chen-Izu, Ye Y; Clancy, Colleen E CE; Deschenes, Isabelle I; Dobrev, Dobromir D; Heijman, Jordi J; Izu, Leighton L; Qu, Zhilin Z; Ripplinger, Crystal M CM; Vandenberg, Jamie I JI; Weiss, James N JN; Koren, Gideon G; Banyasz, Tamas T; Grandi, Eleonora E; Sanguinetti, Michael C MC; Bers, Donald M DM; Nerbonne, Jeanne M JM

Publication Date: 2017-04-01

Variant appearance in text: KCNH2: G628S

PubMed Link: 27808412

Variant Present in the following documents:

• Main text

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: LQT2: G628S

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

View BVdb publication page

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Regulation of sarcoplasmic reticulum Ca2+ release by serine-threonine phosphatases in the heart.

Journal Of Molecular And Cellular Cardiology

Terentyev, Dmitry D; Hamilton, Shanna S

Publication Date: 2016-12

Variant appearance in text: KCNH2: G628S

PubMed Link: 27585747

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: KCNH2: G628S

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s2.xlsx, sheet 3

View BVdb publication page

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Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics

Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS

Publication Date: 2016-06

Variant appearance in text: LQT2: G628S

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

View BVdb publication page

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Can heart function lost to disease be regenerated by therapeutic targeting of cardiac scar tissue?

Seminars In Cell & Developmental Biology

Ongstad, Emily L EL; Gourdie, Robert G RG

Publication Date: 2016-10

Variant appearance in text: KCNH2: G628S

PubMed Link: 27234380

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene Therapy for Cardiac Arrhythmias.

Acta Cardiologica Sinica

Sasano, Tetsuo T; Takahashi, Kentaro K; Sugiyama, Koji K

Publication Date: 2013-05

Variant appearance in text: HERG: G628S

PubMed Link: 27122711

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Use of Gene Therapy for Ablation of Atrial Fibrillation.

Arrhythmia & Electrophysiology Review

Liu, Zhao Z; Donahue, J Kevin JK

Publication Date: 2014-11

Variant appearance in text: KCNH2: G628S

PubMed Link: 26835081

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: LQT2: G628S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Making better scar: Emerging approaches for modifying mechanical and electrical properties following infarction and ablation.

Progress In Biophysics And Molecular Biology

Holmes, Jeffrey W JW; Laksman, Zachary Z; Gepstein, Lior L

Publication Date: 2016-01

Variant appearance in text: KCNH2: G628s

PubMed Link: 26615948

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biological Therapies for Atrial Fibrillation: Ready for Prime Time?

Journal Of Cardiovascular Pharmacology

Donahue, J Kevin JK

Publication Date: 2016-01

Variant appearance in text: KCNH2: G628S

PubMed Link: 26222989

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: KCNH2: G628S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Human Genomics

Li, Mindy H MH; Abrudan, Jenica L JL; Dulik, Matthew C MC; Sasson, Ariella A; Brunton, Joshua J; Jayaraman, Vijayakumar V; Dugan, Noreen N; Haley, Danielle D; Rajagopalan, Ramakrishnan R; Biswas, Sawona S; Sarmady, Mahdi M; DeChene, Elizabeth T ET; Deardorff, Matthew A MA; Wilkens, Alisha A; Noon, Sarah E SE; Scarano, Maria I MI; Santani, Avni B AB; White, Peter S PS; Pennington, Jeffrey J; Conlin, Laura K LK; Spinner, Nancy B NB; Krantz, Ian D ID; Vetter, Victoria L VL

Publication Date: 2015-07-19

Variant appearance in text: KCNH2: Gly628Ser

PubMed Link: 26187847

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene therapy to restore electrophysiological function in heart failure.

Expert Opinion On Biological Therapy

Motloch, Lukas J LJ; Akar, Fadi G FG

Publication Date: 2015-06

Variant appearance in text: HERG: G628S

PubMed Link: 25865107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Voltage-dependent gating of KCNH potassium channels lacking a covalent link between voltage-sensing and pore domains.

Nature Communications

Lörinczi, Éva É; Gómez-Posada, Juan Camilo JC; de la Peña, Pilar P; Tomczak, Adam P AP; Fernández-Trillo, Jorge J; Leipscher, Ulrike U; Stühmer, Walter W; Barros, Francisco F; Pardo, Luis A LA

Publication Date: 2015-03-30

Variant appearance in text: HERG: G628S

PubMed Link: 25818916

Variant Present in the following documents:

• Main text

View BVdb publication page

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Determining the pathogenicity of genetic variants associated with cardiac channelopathies.

Scientific Reports

Campuzano, Oscar O; Allegue, Catarina C; Fernandez, Anna A; Iglesias, Anna A; Brugada, Ramon R

Publication Date: 2015-01-22

Variant appearance in text: KCNH2: G628S

PubMed Link: 25608792

Variant Present in the following documents:

• Main text
• srep07953.pdf

View BVdb publication page

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Hyperphosphorylation of RyRs underlies triggered activity in transgenic rabbit model of LQT2 syndrome.

Circulation Research

Terentyev, Dmitry D; Rees, Colin M CM; Li, Weiyan W; Cooper, Leroy L LL; Jindal, Hitesh K HK; Peng, Xuwen X; Lu, Yichun Y; Terentyeva, Radmila R; Odening, Katja E KE; Daley, Jean J; Bist, Kamana K; Choi, Bum-Rak BR; Karma, Alain A; Koren, Gideon G

Publication Date: 2014-11-07

Variant appearance in text: HERG: G628S

PubMed Link: 25249569

Variant Present in the following documents:

• Main text

View BVdb publication page

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How do sex hormones modify arrhythmogenesis in long QT syndrome? Sex hormone effects on arrhythmogenic substrate and triggered activity.

Heart Rhythm

Odening, Katja E KE; Koren, Gideon G

Publication Date: 2014-11

Variant appearance in text: HERG: G628S

PubMed Link: 24954242

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mouse models of arrhythmogenic cardiovascular disease: challenges and opportunities.

Current Opinion In Pharmacology

Nerbonne, Jeanne M JM

Publication Date: 2014-04

Variant appearance in text: KCNH2: G628S

PubMed Link: 24632325

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene therapies for arrhythmias in heart failure.

Pflugers Archiv : European Journal Of Physiology

Akar, Fadi G FG; Hajjar, Roger J RJ

Publication Date: 2014-06

Variant appearance in text: KCNH2: G628S

PubMed Link: 24566976

Variant Present in the following documents:

• Main text

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Mechano-signaling in heart failure.

Pflugers Archiv : European Journal Of Physiology

Buyandelger, Byambajav B; Mansfield, Catherine C; Knöll, Ralph R

Publication Date: 2014-06

Variant appearance in text: KCNH2: G628S

PubMed Link: 24531746

Variant Present in the following documents:

• Main text
• 424_2014_Article_1468.pdf

View BVdb publication page

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In utero diagnosis of long QT syndrome by magnetocardiography.

Circulation

Cuneo, Bettina F BF; Strasburger, Janette F JF; Yu, Suhong S; Horigome, Hitoshi H; Hosono, Takayoshi T; Kandori, Akihiko A; Wakai, Ronald T RT

Publication Date: 2013-11-12

Variant appearance in text: KCNH2: G628S

PubMed Link: 24218437

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Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.

Circulation. Arrhythmia And Electrophysiology

Cuneo, Bettina F BF; Etheridge, Susan P SP; Horigome, Hitoshi H; Sallee, Denver D; Moon-Grady, Anita A; Weng, Hsin-Yi HY; Ackerman, Michael J MJ; Benson, D Woodrow DW

Publication Date: 2013-10

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PubMed Link: 23995044

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Transgenic rabbit models for studying human cardiovascular diseases.

Comparative Medicine

Peng, Xuwen X

Publication Date: 2012-12

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PubMed Link: 23561880

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Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor.

The Journal Of Membrane Biology

McBride, Christie M CM; Smith, Ashley M AM; Smith, Jennifer L JL; Reloj, Allison R AR; Velasco, Ellyn J EJ; Powell, Jonathan J; Elayi, Claude S CS; Bartos, Daniel C DC; Burgess, Don E DE; Delisle, Brian P BP

Publication Date: 2013-05

Variant appearance in text: LQT2: G628S

PubMed Link: 23546015

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Heuristic methods for finding pathogenic variants in gene coding sequences.

Journal Of The American Heart Association

Ohanian, Monique M; Otway, Robyn R; Fatkin, Diane D

Publication Date: 2012-10

Variant appearance in text: KCNH2: G628S

PubMed Link: 23316295

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Spatial gradients in action potential duration created by regional magnetofection of hERG are a substrate for wavebreak and turbulent propagation in cardiomyocyte monolayers.

The Journal Of Physiology

Campbell, Katherine K; Calvo, Conrado J CJ; Mironov, Sergey S; Herron, Todd T; Berenfeld, Omer O; Jalife, José J

Publication Date: 2012-12-15

Variant appearance in text: KCNH2: G628S

PubMed Link: 23090949

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Isoform-specific dominant-negative effects associated with hERG1 G628S mutation in long QT syndrome.

Plos One

Stump, Matthew R MR; Gong, Qiuming Q; Zhou, Zhengfeng Z

Publication Date: 2012

Variant appearance in text: LQT2: G628S

PubMed Link: 22876326

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Proteomic analyses of transgenic LQT1 and LQT2 rabbit hearts elucidate an increase in expression and activity of energy producing enzymes.

Journal Of Proteomics

Jindal, Hitesh K HK; Merchant, Elisabeth E; Balschi, James A JA; Zhangand, Yajie Y; Koren, Gideon G

Publication Date: 2012-09-18

Variant appearance in text: HERG: G628S

PubMed Link: 22796357

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Estradiol promotes sudden cardiac death in transgenic long QT type 2 rabbits while progesterone is protective.

Heart Rhythm

Odening, Katja E KE; Choi, Bum-Rak BR; Liu, Gong Xin GX; Hartmann, Kathryn K; Ziv, Ohad O; Chaves, Leonard L; Schofield, Lorraine L; Centracchio, Jason J; Zehender, Manfred M; Peng, Xuwen X; Brunner, Michael M; Koren, Gideon G

Publication Date: 2012-05

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PubMed Link: 22245795

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Differential conditions for early after-depolarizations and triggered activity in cardiomyocytes derived from transgenic LQT1 and LQT2 rabbits.

The Journal Of Physiology

Liu, Gong-Xin GX; Choi, Bum-Rak BR; Ziv, Ohad O; Li, Weiyan W; de Lange, Enno E; Qu, Zhilin Z; Koren, Gideon G

Publication Date: 2012-03-01

Variant appearance in text: HERG: G628S

PubMed Link: 22183728

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Blockade of permeation by potassium but normal gating of the G628S nonconducting hERG channel mutant.

Biophysical Journal

Es-Salah-Lamoureux, Zeineb Z; Xiong, Ping Yu PY; Goodchild, Samuel J SJ; Ahern, Christopher A CA; Fedida, David D

Publication Date: 2011-08-03

Variant appearance in text: LQT2: G628S

PubMed Link: 21806934

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A major role for HERG in determining frequency of reentry in neonatal rat ventricular myocyte monolayer.

Circulation Research

Hou, Luqia L; Deo, Makarand M; Furspan, Philip P; Pandit, Sandeep V SV; Mironov, Sergey S; Auerbach, David S DS; Gong, Qiuming Q; Zhou, Zhengfeng Z; Berenfeld, Omer O; Jalife, José J

Publication Date: 2010-12-10

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PubMed Link: 20947828

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Pore mutants of HERG and KvLQT1 downregulate the reciprocal currents in stable cell lines.

American Journal Of Physiology. Heart And Circulatory Physiology

Ren, Xiao-Qin XQ; Liu, Gong Xin GX; Organ-Darling, Louise E LE; Zheng, Renjian R; Roder, Karim K; Jindal, Hitesh K HK; Centracchio, Jason J; McDonald, Thomas V TV; Koren, Gideon G

Publication Date: 2010-11

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PubMed Link: 20833965

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Electrophysiological studies of transgenic long QT type 1 and type 2 rabbits reveal genotype-specific differences in ventricular refractoriness and His conduction.

American Journal Of Physiology. Heart And Circulatory Physiology

Odening, Katja E KE; Kirk, Malcolm M; Brunner, Michael M; Ziv, Ohad O; Lorvidhaya, Peem P; Liu, Gong Xin GX; Schofield, Lorraine L; Chaves, Leonard L; Peng, Xuwen X; Zehender, Manfred M; Choi, Bum-Rak BR; Koren, Gideon G

Publication Date: 2010-09

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PubMed Link: 20581090

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HERG1 channelopathies.

Pflugers Archiv : European Journal Of Physiology

Sanguinetti, Michael C MC

Publication Date: 2010-07

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PubMed Link: 20544339

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Selective molecular potassium channel blockade prevents atrial fibrillation.

Circulation

Amit, Guy G; Kikuchi, Kan K; Greener, Ian D ID; Yang, Lizhu L; Novack, Victor V; Donahue, J Kevin JK

Publication Date: 2010-06-01

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PubMed Link: 20479154

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Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology

Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT

Publication Date: 2010-08

Variant appearance in text: LQT2: G628S

PubMed Link: 20224422

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