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: 1841C>T; rs199472944

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: A614V

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: 1841C>T; Ala614Val

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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Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology

Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE

Publication Date: 2022

Variant appearance in text: KCNH2: A614V

PubMed Link: 36339618

Variant Present in the following documents:

• fphar-13-1010119.pdf

View BVdb publication page

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STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.

Cell Reports Methods

Blanch-Asensio, Albert A; Grandela, Catarina C; Brandão, Karina O KO; de Korte, Tessa T; Mei, Hailiang H; Ariyurek, Yavuz Y; Yiangou, Loukia L; Mol, Mervyn P H MPH; van Meer, Berend J BJ; Kloet, Susan L SL; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2022-10-24

Variant appearance in text: KCNH2: 1841C>T; rs199472944

PubMed Link: 36313798

Variant Present in the following documents:

• mmc1.pdf
• mmc2.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: LQT2: A614V

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: KCNH2: Ala614Val

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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Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine

Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J

Publication Date: 2022

Variant appearance in text: LQT2: 1841C>T

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

View BVdb publication page

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Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation.

Frontiers In Genetics

Sun, Hairui H; Liu, Xiaowei X; Hao, Xiaoyan X; Zhou, Xiaoxue X; Wang, Jingyi J; Han, Jiancheng J; Liang, Mengmeng M; Zhang, Hongjia H; He, Yihua Y

Publication Date: 2022

Variant appearance in text: KCNH2: Ala614Val

PubMed Link: 35281812

Variant Present in the following documents:

• Main text
• fgene-13-821226.pdf

View BVdb publication page

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Disruption of protein quality control of the human ether-à-go-go related gene K+ channel results in profound long QT syndrome.

Heart Rhythm

Ledford, Hannah A HA; Ren, Lu L; Thai, Phung N PN; Park, Seojin S; Timofeyev, Valeriy V; Sirish, Padmini P; Xu, Wilson W; Emigh, Aiyana M AM; Priest, James R JR; Perez, Marco V MV; Ashley, Euan A EA; Yarov-Yarovoy, Vladimir V; Yamoah, Ebenezer N EN; Zhang, Xiao-Dong XD; Chiamvimonvat, Nipavan N

Publication Date: 2021-10-09

Variant appearance in text: KCNH2: A614V

PubMed Link: 34634443

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.

World Journal Of Stem Cells

Micheu, Miruna Mihaela MM; Rosca, Ana-Maria AM

Publication Date: 2021-04-26

Variant appearance in text: KCNH2: A614V

PubMed Link: 33959219

Variant Present in the following documents:

• Main text

View BVdb publication page

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Drug Development and the Use of Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Disease Modeling and Drug Toxicity Screening.

International Journal Of Molecular Sciences

Ovics, Paz P; Regev, Danielle D; Baskin, Polina P; Davidor, Mor M; Shemer, Yuval Y; Neeman, Shunit S; Ben-Haim, Yael Y; Binah, Ofer O

Publication Date: 2020-10-03

Variant appearance in text: KCNH2: A614V

PubMed Link: 33023024

Variant Present in the following documents:

• Main text
• ijms-21-07320.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: 1841C>T; Ala614Val

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: KCNH2: A614V

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: LQT2: A614V

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.

Circulation. Arrhythmia And Electrophysiology

Strand, Sarah S; Strasburger, Janette F JF; Cuneo, Bettina F BF; Wakai, Ronald T RT

Publication Date: 2020-05

Variant appearance in text: KCNH2: A614V

PubMed Link: 32421437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.

European Cardiology

Nakao, Shu S; Ihara, Dai D; Hasegawa, Koji K; Kawamura, Teruhisa T

Publication Date: 2020-02

Variant appearance in text: KCNH2: A614V

PubMed Link: 32180835

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: A614V

PubMed Link: 31963859

Variant Present in the following documents:

• Main text
• ijms-21-00657.pdf

View BVdb publication page

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Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.

Stem Cells (Dayton, Ohio)

van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2020-02

Variant appearance in text: LQT2: A614V

PubMed Link: 31664757

Variant Present in the following documents:

• STEM-38-174-s001.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: 1841C>T; A614V

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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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: KCNH2: 1841C>T; Ala614Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Momentary giant T-waves hint the genesis of the electrocardiographic T-wave in human.

Journal Of Arrhythmia

Yasumasu, Tomiya T

Publication Date: 2018-12

Variant appearance in text: HERG: A614V

PubMed Link: 30555608

Variant Present in the following documents:

• Main text
• JOA3-34-640.pdf

View BVdb publication page

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Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Models for Cardiac Channelopathies: A Primer for Non-Electrophysiologists.

Circulation Research

Garg, Priyanka P; Garg, Vivek V; Shrestha, Rajani R; Sanguinetti, Michael C MC; Kamp, Timothy J TJ; Wu, Joseph C JC

Publication Date: 2018-07-06

Variant appearance in text: KCNH2: A614V

PubMed Link: 29976690

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome Editing of Induced Pluripotent Stem Cells to Decipher Cardiac Channelopathy Variant.

Journal Of The American College Of Cardiology

Garg, Priyanka P; Oikonomopoulos, Angelos A; Chen, Haodong H; Li, Yingxin Y; Lam, Chi Keung CK; Sallam, Karim K; Perez, Marco M; Lux, Robert L RL; Sanguinetti, Michael C MC; Wu, Joseph C JC

Publication Date: 2018-07-03

Variant appearance in text: LQT2: A614V

PubMed Link: 29957233

Variant Present in the following documents:

• Main text

View BVdb publication page

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Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2.

Frontiers In Physiology

Hall, Allison R AR; Anderson, Corey L CL; Smith, Jennifer L JL; Mirshahi, Tooraj T; Elayi, Claude S CS; January, Craig T CT; Delisle, Brian P BP

Publication Date: 2018

Variant appearance in text: Kv11.1: A614V

PubMed Link: 29875689

Variant Present in the following documents:

• Main text
• fphys-09-00584.pdf

View BVdb publication page

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A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.

Scientific Reports

Wu, Jie J; Mizusawa, Yuka Y; Ohno, Seiko S; Ding, Wei-Guang WG; Higaki, Takashi T; Wang, Qi Q; Kohjitani, Hirohiko H; Makiyama, Takeru T; Itoh, Hideki H; Toyoda, Futoshi F; James, Andrew F AF; Hancox, Jules C JC; Matsuura, Hiroshi H; Horie, Minoru M

Publication Date: 2018-02-15

Variant appearance in text: LQT2: A614V

PubMed Link: 29449639

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human iPSC-Derived Cardiomyocytes for Investigation of Disease Mechanisms and Therapeutic Strategies in Inherited Arrhythmia Syndromes: Strengths and Limitations.

Cardiovascular Drugs And Therapy

Casini, Simona S; Verkerk, Arie O AO; Remme, Carol Ann CA

Publication Date: 2017-06

Variant appearance in text: KCNH2: A614V

PubMed Link: 28721524

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Promise and Challenge of Induced Pluripotent Stem Cells for Cardiovascular Applications.

Jacc. Basic To Translational Science

Youssef, Amr A AA; Ross, Elsie Gyang EG; Bolli, Roberto R; Pepine, Carl J CJ; Leeper, Nicholas J NJ; Yang, Phillip C PC

Publication Date: 2016-10

Variant appearance in text: KCNH2: A614V

PubMed Link: 28580434

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls

Giacomelli, E E; Mummery, C L CL; Bellin, M M

Publication Date: 2017-10

Variant appearance in text: KCNH2: A614V

PubMed Link: 28573431

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: 1841C>T; Ala614Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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From Bench to Market: Preparing Human Pluripotent Stem Cells Derived Cardiomyocytes for Various Applications.

International Journal Of Stem Cells

Moon, Sung-Hwan SH; Bae, Daekyeong D; Jung, Taek-Hee TH; Chung, Eun-Bin EB; Jeong, Young-Hoon YH; Park, Soon-Jung SJ; Chung, Hyung-Min HM

Publication Date: 2017-05-30

Variant appearance in text: KCNH2: A614V

PubMed Link: 28531912

Variant Present in the following documents:

• Main text
• ijsc-10-001.pdf

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: A614V

PubMed Link: 28316956

Variant Present in the following documents:

• Main text
• 40709_2017_Article_63.pdf

View BVdb publication page

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Molecular pathogenesis of long QT syndrome type 2.

Journal Of Arrhythmia

Smith, Jennifer L JL; Anderson, Corey L CL; Burgess, Don E DE; Elayi, Claude S CS; January, Craig T CT; Delisle, Brian P BP

Publication Date: 2016-10

Variant appearance in text: LQT2: A614V

PubMed Link: 27761161

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Human Induced Pluripotent Stem Cells as a Platform for Personalized and Precision Cardiovascular Medicine.

Physiological Reviews

Matsa, Elena E; Ahrens, John H JH; Wu, Joseph C JC

Publication Date: 2016-07

Variant appearance in text: KCNH2: A614V

PubMed Link: 27335446

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Afford New Opportunities in Inherited Cardiovascular Disease Modeling.

Cardiology Research And Practice

Bayzigitov, Daniel R DR; Medvedev, Sergey P SP; Dementyeva, Elena V EV; Bayramova, Sevda A SA; Pokushalov, Evgeny A EA; Karaskov, Alexander M AM; Zakian, Suren M SM

Publication Date: 2016

Variant appearance in text: KCNH2: A614V

PubMed Link: 27110425

Variant Present in the following documents:

• Main text
• CRP2016-3582380.pdf

View BVdb publication page

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Induced pluripotent stem cells: at the heart of cardiovascular precision medicine.

Nature Reviews. Cardiology

Chen, Ian Y IY; Matsa, Elena E; Wu, Joseph C JC

Publication Date: 2016-06

Variant appearance in text: KCNH2: A614V

PubMed Link: 27009425

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.

The Journal Of Physiology

Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI

Publication Date: 2016-07-15

Variant appearance in text: Kv11.1: A614V

PubMed Link: 26958806

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: KCNH2: A614V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Induced Pluripotency and Gene Editing in Disease Modelling: Perspectives and Challenges.

International Journal Of Molecular Sciences

Seah, Yu Fen Samantha YF; El Farran, Chadi A CA; Warrier, Tushar T; Xu, Jian J; Loh, Yuin-Han YH

Publication Date: 2015-12-02

Variant appearance in text: KCNH2: A614V

PubMed Link: 26633382

Variant Present in the following documents:

• Main text
• ijms-16-26119.pdf

View BVdb publication page

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RNA interference-based therapeutics for inherited long QT syndrome.

Experimental And Therapeutic Medicine

Li, Guoliang G; Ma, Shuting S; Sun, Chaofeng C

Publication Date: 2015-08

Variant appearance in text: KCNH2: A614V

PubMed Link: 26622327

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiovascular Disease Modeling Using Patient-Specific Induced Pluripotent Stem Cells.

International Journal Of Molecular Sciences

Tanaka, Atsushi A; Yuasa, Shinsuke S; Node, Koichi K; Fukuda, Keiichi K

Publication Date: 2015-08-12

Variant appearance in text: KCNH2: A614V

PubMed Link: 26274955

Variant Present in the following documents:

• ijms-16-18894-s001.xlsx, sheet 1

View BVdb publication page

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Clinical Potentials of Cardiomyocytes Derived from Patient-Specific Induced Pluripotent Stem Cells.

Journal Of Clinical Medicine

Ng, Kwong-Man KM; Law, Cheuk-Yiu CY; Tse, Hung-Fat HF

Publication Date: 2014-10-15

Variant appearance in text: KCNH2: A614V

PubMed Link: 26237594

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: A614V

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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Cardiac disease modeling using induced pluripotent stem cell-derived human cardiomyocytes.

World Journal Of Stem Cells

Dell'Era, Patrizia P; Benzoni, Patrizia P; Crescini, Elisabetta E; Valle, Matteo M; Xia, Er E; Consiglio, Antonella A; Memo, Maurizio M

Publication Date: 2015-03-26

Variant appearance in text: KCNH2: A614V

PubMed Link: 25815118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: KCNH2: 1841C>T

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

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Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications

Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT

Publication Date: 2014-11-24

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PubMed Link: 25417810

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• nihms634670.pdf

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iPSC technology--Powerful hand for disease modeling and therapeutic screen.

Bmb Reports

Kim, Changsung C

Publication Date: 2015-05

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PubMed Link: 25104399

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Genome editing of isogenic human induced pluripotent stem cells recapitulates long QT phenotype for drug testing.

Journal Of The American College Of Cardiology

Wang, Yongming Y; Liang, Ping P; Lan, Feng F; Wu, Haodi H; Lisowski, Leszek L; Gu, Mingxia M; Hu, Shijun S; Kay, Mark A MA; Urnov, Fyodor D FD; Shinnawi, Rami R; Gold, Joseph D JD; Gepstein, Lior L; Wu, Joseph C JC

Publication Date: 2014-08-05

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PubMed Link: 25082577

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Pluripotent stem cells as a platform for cardiac arrhythmia drug screening.

Current Treatment Options In Cardiovascular Medicine

Leyton-Mange, Jordan S JS; Milan, David J DJ

Publication Date: 2014-09

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PubMed Link: 25074263

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Human pluripotent stem cell-derived cardiomyocytes as research and therapeutic tools.

Biomed Research International

Acimovic, Ivana I; Vilotic, Aleksandra A; Pesl, Martin M; Lacampagne, Alain A; Dvorak, Petr P; Rotrekl, Vladimir V; Meli, Albano C AC

Publication Date: 2014

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PubMed Link: 24800237

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Modeling inherited cardiac disorders.

Circulation Journal : Official Journal Of The Japanese Circulation Society

Sallam, Karim K; Kodo, Kazuki K; Wu, Joseph C JC

Publication Date: 2014

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PubMed Link: 24632794

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The current status of iPS cells in cardiac research and their potential for tissue engineering and regenerative medicine.

Stem Cell Reviews And Reports

Martins, Ana M AM; Vunjak-Novakovic, Gordana G; Reis, Rui L RL

Publication Date: 2014-04

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PubMed Link: 24425421

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