Publications:

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Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Nav1.7.

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

Huang, Gaoxingyu G; Wu, Qiurong Q; Li, Zhangqiang Z; Jin, Xueqin X; Huang, Xiaoshuang X; Wu, Tong T; Pan, Xiaojing X; Yan, Nieng N

Publication Date: 2022-08-16

Variant appearance in text: Nav1.5: V240M

PubMed Link: 35878056

Variant Present in the following documents:

• pnas.202209164.pdf

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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: LQT3: V240M

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

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Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Genes

Villarreal-Molina, Teresa T; García-Ordóñez, Gabriela Paola GP; Reyes-Quintero, Álvaro E ÁE; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; Nava, Santiago S; Carnevale, Alessandra A; Medeiros-Domingo, Argelia A; Iturralde, Pedro P

Publication Date: 2021-12-22

Variant appearance in text: SCN5A: Val240Met; rs199473076

PubMed Link: 35052356

Variant Present in the following documents:

• Main text
• genes-13-00016.pdf

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Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Genes

Villarreal-Molina, Teresa T; García-Ordóñez, Gabriela Paola GP; Reyes-Quintero, Álvaro E ÁE; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; Nava, Santiago S; Carnevale, Alessandra A; Medeiros-Domingo, Argelia A; Iturralde, Pedro P

Publication Date: 2021-12-22

Variant appearance in text: SCN5A: Val240Met; rs199473076

PubMed Link: 35052356

Variant Present in the following documents:

• Main text
• genes-13-00016.pdf

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Induced Pluripotent Stem Cell-Derived Cardiomyocytes with SCN5A R1623Q Mutation Associated with Severe Long QT Syndrome in Fetuses and Neonates Recapitulates Pathophysiological Phenotypes.

Biology

Hayama, Emiko E; Furutani, Yoshiyuki Y; Kawaguchi, Nanako N; Seki, Akiko A; Nagashima, Yoji Y; Okita, Keisuke K; Takeuchi, Daiji D; Matsuoka, Rumiko R; Inai, Kei K; Hagiwara, Nobuhisa N; Nakanishi, Toshio T

Publication Date: 2021-10-18

Variant appearance in text: LQT3: V240M

PubMed Link: 34681161

Variant Present in the following documents:

• Main text
• biology-10-01062.pdf

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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: SCN5A: 718G>A; Val240Met

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 11
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 13
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 9
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 3

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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: SCN5A: V240M

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1

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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: SCN5A: V240M

PubMed Link: 32180835

Variant Present in the following documents:

• Main text

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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: SCN5A: V240M

PubMed Link: 31963859

Variant Present in the following documents:

• Main text
• ijms-21-00657.pdf

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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: LQT3: V240M

PubMed Link: 31664757

Variant Present in the following documents:

• STEM-38-174-s001.pdf

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: SCN5A: 718G>A; Val240Met; rs199473076

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

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: SCN5A: V240M

PubMed Link: 29976690

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: SCN5A: V240M

PubMed Link: 28573431

Variant Present in the following documents:

• Main text
• 18_2017_Article_2546.pdf

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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: SCN5A: 718G>A; Val240Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: V240M

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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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: SCN5A: 718G>A; V240M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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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: SCN5A: V240M

PubMed Link: 27335446

Variant Present in the following documents:

• Main text

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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: SCN5A: V240M

PubMed Link: 27009425

Variant Present in the following documents:

• Main text

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: SCN5A: V240M

PubMed Link: 25815118

Variant Present in the following documents:

• Main text

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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

Variant appearance in text: SCN5A: V240M

PubMed Link: 25074263

Variant Present in the following documents:

• Main text

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The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients.

Plos One

Fatima, Azra A; Kaifeng, Shao S; Dittmann, Sven S; Xu, Guoxing G; Gupta, Manoj K MK; Linke, Matthias M; Zechner, Ulrich U; Nguemo, Filomain F; Milting, Hendrik H; Farr, Martin M; Hescheler, Jürgen J; Sarić, Tomo T

Publication Date: 2013

Variant appearance in text: SCN5A: 718G>A

PubMed Link: 24349418

Variant Present in the following documents:

• Main text
• pone.0083005.pdf
• pone.0083005.s001.pdf

View BVdb publication page

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