Publications:

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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: R104W

PubMed Link: 36877742

Variant Present in the following documents:

• pcbi.1010959.s004.pdf

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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: SCN5A: 310C>T; Arg104Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences

Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D

Publication Date: 2022-01-26

Variant appearance in text: SCN5A: R104W

PubMed Link: 35163304

Variant Present in the following documents:

• Main text
• ijms-23-01381.pdf

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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences

Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D

Publication Date: 2022-01-26

Variant appearance in text: SCN5A: R104W

PubMed Link: 35163304

Variant Present in the following documents:

• Main text
• ijms-23-01381.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: R104W

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: SCN5A: 310C>T; Arg104Trp

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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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: Nav1.5: R104W

PubMed Link: 34831398

Variant Present in the following documents:

• Main text
• cells-10-03175.pdf

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Editorial: Inherited Arrhythmias of the Cardiac Sodium Channel Nav1.5.

Frontiers In Physiology

Amarouch, Mohamed-Yassine MY; Zaklyazminskaya, Elena V EV; Rougier, Jean-Sébastien JS

Publication Date: 2021

Variant appearance in text: SCN5A: R104W

PubMed Link: 34421659

Variant Present in the following documents:

• Main text
• fphys-12-716553.pdf

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In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant.

Frontiers In Physiology

Doisne, Nicolas N; Grauso, Marta M; Mougenot, Nathalie N; Clergue, Michel M; Souil, Charlotte C; Coulombe, Alain A; Guicheney, Pascale P; Neyroud, Nathalie N

Publication Date: 2021

Variant appearance in text: Nav1.5: R104W

PubMed Link: 34122134

Variant Present in the following documents:

• Main text
• fphys-12-661413.pdf

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Characterization of an N-terminal Nav1.5 channel variant - a potential risk factor for arrhythmias and sudden death?

Bmc Medical Genetics

Scheiper-Welling, Stefanie S; Zuccolini, Paolo P; Rauh, Oliver O; Beckmann, Britt-Maria BM; Geisen, Christof C; Moroni, Anna A; Thiel, Gerhard G; Kauferstein, Silke S

Publication Date: 2020-11-19

Variant appearance in text: Nav1.5: R104W

PubMed Link: 33213388

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1170.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: 310C>T

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 9
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 13
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 3
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12

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Calmodulin binds to the N-terminal domain of the cardiac sodium channel Nav1.5.

Channels (Austin, Tex.)

Wang, Zizun Z; Vermij, Sarah H SH; Sottas, Valentin V; Shestak, Anna A; Ross-Kaschitza, Daniela D; Zaklyazminskaya, Elena V EV; Hudmon, Andy A; Pitt, Geoffrey S GS; Rougier, Jean-Sébastien JS; Abriel, Hugues H

Publication Date: 2020-12

Variant appearance in text: SCN5A: R104W

PubMed Link: 32815768

Variant Present in the following documents:

• Main text
• KCHL_14_1805999.pdf

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Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Minoche, Andre E AE; Horvat, Claire C; Johnson, Renee R; Gayevskiy, Velimir V; Morton, Sarah U SU; Drew, Alexander P AP; Woo, Kerhan K; Statham, Aaron L AL; Lundie, Ben B; Bagnall, Richard D RD; Ingles, Jodie J; Semsarian, Christopher C; Seidman, J G JG; Seidman, Christine E CE; Dinger, Marcel E ME; Cowley, Mark J MJ; Fatkin, Diane D

Publication Date: 2019-03

Variant appearance in text: SCN5A: R104W

PubMed Link: 29961767

Variant Present in the following documents:

• nihms-1594241.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs199473055

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Voltage-gated sodium channels assemble and gate as dimers.

Nature Communications

Clatot, Jérôme J; Hoshi, Malcolm M; Wan, Xiaoping X; Liu, Haiyan H; Jain, Ankur A; Shinlapawittayatorn, Krekwit K; Marionneau, Céline C; Ficker, Eckhard E; Ha, Taekjip T; Deschênes, Isabelle I

Publication Date: 2017-12-12

Variant appearance in text: SCN5A: R104W

PubMed Link: 29233994

Variant Present in the following documents:

• Main text
• 41467_2017_2262_MOESM1_ESM.pdf
• 41467_2017_Article_2262.pdf

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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: R104W

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.

Frontiers In Physiology

Gütter, Christian C; Benndorf, Klaus K; Zimmer, Thomas T

Publication Date: 2013

Variant appearance in text: SCN5A: R104W

PubMed Link: 23805106

Variant Present in the following documents:

• Main text
• fphys-04-00153.pdf

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Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.

Cardiovascular Research

Clatot, Jérôme J; Ziyadeh-Isleem, Azza A; Maugenre, Svetlana S; Denjoy, Isabelle I; Liu, Haiyan H; Dilanian, Gilles G; Hatem, Stéphane N SN; Deschênes, Isabelle I; Coulombe, Alain A; Guicheney, Pascale P; Neyroud, Nathalie N

Publication Date: 2012-10-01

Variant appearance in text: SCN5A: 310C>T; R104W

PubMed Link: 22739120

Variant Present in the following documents:

• Main text

View BVdb publication page

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