Publications:

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Inhibition of Wnt/β-catenin signaling upregulates Nav 1.5 channels in Brugada syndrome iPSC-derived cardiomyocytes.

Physiological Reports

Lu, Aizhu A; Gu, Ruonan R; Chu, Cencen C; Xia, Ying Y; Wang, Jerry J; Davis, Darryl R DR; Liang, Wenbin W

Publication Date: 2023-05

Variant appearance in text: SCN5A: R811H

PubMed Link: 37226398

Variant Present in the following documents:

• Main text
• PHY2-11-e15696.pdf

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Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.

International Journal Of Molecular Sciences

Melgari, Dario D; Calamaio, Serena S; Frosio, Anthony A; Prevostini, Rachele R; Anastasia, Luigi L; Pappone, Carlo C; Rivolta, Ilaria I

Publication Date: 2023-04-03

Variant appearance in text: SCN5A: R811H

PubMed Link: 37047659

Variant Present in the following documents:

• Main text
• ijms-24-06687.pdf

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Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Plos Computational Biology

Boßelmann, Christian Malte CM; Hedrich, Ulrike B S UBS; Lerche, Holger H; Pfeifer, Nico N

Publication Date: 2023-03-06

Variant appearance in text: SCN5A: R811H

PubMed Link: 36877742

Variant Present in the following documents:

• pcbi.1010959.s004.pdf

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN5A: R811H

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Cells

Iop, Laura L; Iliceto, Sabino S; Civieri, Giovanni G; Tona, Francesco F

Publication Date: 2021-11-15

Variant appearance in text: SCN5A: R811H

PubMed Link: 34831398

Variant Present in the following documents:

• Main text
• cells-10-03175.pdf

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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg

van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG

Publication Date: 2022-02

Variant appearance in text: SCN5A: 2432G>A; Arg811His

PubMed Link: 34697415

Variant Present in the following documents:

• 41431_2021_964_MOESM3_ESM.xlsx, sheet 1

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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg

van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG

Publication Date: 2021-10-25

Variant appearance in text: SCN5A: 2432G>A; Arg811His

PubMed Link: 34697415

Variant Present in the following documents:

• 41431_2021_964_MOESM3_ESM.xlsx, sheet 1

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iPSC-Cardiomyocyte Models of Brugada Syndrome-Achievements, Challenges and Future Perspectives.

International Journal Of Molecular Sciences

Nijak, Aleksandra A; Saenen, Johan J; Labro, Alain J AJ; Schepers, Dorien D; Loeys, Bart L BL; Alaerts, Maaike M

Publication Date: 2021-03-10

Variant appearance in text: SCN5A: Arg811His

PubMed Link: 33802229

Variant Present in the following documents:

• Main text
• ijms-22-02825.pdf

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Disease Phenotypes and Mechanisms of iPSC-Derived Cardiomyocytes From Brugada Syndrome Patients With a Loss-of-Function SCN5A Mutation.

Frontiers In Cell And Developmental Biology

Li, Wener W; Stauske, Michael M; Luo, Xiaojing X; Wagner, Stefan S; Vollrath, Meike M; Mehnert, Carola S CS; Schubert, Mario M; Cyganek, Lukas L; Chen, Simin S; Hasheminasab, Sayed-Mohammad SM; Wulf, Gerald G; El-Armouche, Ali A; Maier, Lars S LS; Hasenfuss, Gerd G; Guan, Kaomei K

Publication Date: 2020

Variant appearance in text: SCN5A: R811H

PubMed Link: 33195263

Variant Present in the following documents:

• Main text
• fcell-08-592893.pdf

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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: R811H

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: R811H

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: R811H

PubMed Link: 31664757

Variant Present in the following documents:

• STEM-38-174-s001.pdf

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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: SCN5A: R811H

PubMed Link: 30079003

Variant Present in the following documents:

• Main text
• jkms-33-e200.pdf

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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: R811H

PubMed Link: 29976690

Variant Present in the following documents:

• Main text

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Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)

Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G

Publication Date: 2018-06

Variant appearance in text: SCN5A: R811H

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

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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: R811H

PubMed Link: 28573431

Variant Present in the following documents:

• Main text
• 18_2017_Article_2546.pdf

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Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.

Human Mutation

Pejaver, Vikas V; Mooney, Sean D SD; Radivojac, Predrag P

Publication Date: 2017-09

Variant appearance in text: SCN5A: Arg811His

PubMed Link: 28508593

Variant Present in the following documents:

• Main text

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Modeling and Genome-Editing Brugada Syndrome in a Dish.

Journal Of The American College Of Cardiology

Cho, Hee Cheol HC

Publication Date: 2016-11-08

Variant appearance in text: Nav1.5: R811H

PubMed Link: 27810049

Variant Present in the following documents:

• Main text

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