Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: SCN5A: E1053K

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.

Theranostics

Liu, Xuesong X; Hong, Ruoxi R; Du, Peina P; Yang, Di D; He, Meibo M; Wu, Qingnan Q; Li, Lin L; Wang, Yan Y; Chen, Jie J; Min, Qingjie Q; Li, Jinting J; Zhang, Weimin W; Zhan, Qimin Q

Publication Date: 2022

Variant appearance in text: SCN5A: 3157G>A; E1053K

PubMed Link: 36168622

Variant Present in the following documents:

• thnov12p6160s2.xlsx, sheet 2

View BVdb publication page

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Pleiotropic Ankyrins: Scaffolds for Ion Channels and Transporters.

Channels (Austin, Tex.)

Stevens, Sharon R SR; Rasband, Matthew N MN

Publication Date: 2022-12

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 36082411

Variant Present in the following documents:

• Main text
• KCHL_16_2120467.pdf

View BVdb publication page

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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: E1053K

PubMed Link: 35163304

Variant Present in the following documents:

• 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: E1053K

PubMed Link: 35163304

Variant Present in the following documents:

• ijms-23-01381.pdf

View BVdb publication page

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Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines

Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G

Publication Date: 2022-01-05

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 35052786

Variant Present in the following documents:

• biomedicines-10-00106.pdf

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Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines

Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G

Publication Date: 2022-01-05

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 35052786

Variant Present in the following documents:

• biomedicines-10-00106.pdf

View BVdb publication page

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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: 3157G>A; E1053K

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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: Nav1.5: E1053K

PubMed Link: 34709746

Variant Present in the following documents:

• Main text
• CTM2-11-e530.pdf

View BVdb publication page

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Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias.

Cells

Blandin, Camille E CE; Gravez, Basile J BJ; Hatem, Stéphane N SN; Balse, Elise E

Publication Date: 2021-09-14

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 34572065

Variant Present in the following documents:

• Main text
• cells-10-02417.pdf

View BVdb publication page

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A Rare Variant of ANK3 Is Associated With Intracranial Aneurysm.

Frontiers In Neurology

Liu, Junyu J; Liao, Xin X; Zhou, Jilin J; Li, Bingyang B; Xu, Lu L; Liu, Songlin S; Li, Yifeng Y; Yuan, Dun D; Hu, Chongyu C; Jiang, Weixi W; Yan, Junxia J

Publication Date: 2021

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 34248821

Variant Present in the following documents:

• fneur-12-672570.pdf

View BVdb publication page

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Long QT syndrome - Bench to bedside.

Heart Rhythm O2

Ponce-Balbuena, Daniela D; Deschênes, Isabelle I

Publication Date: 2021-02

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 34113909

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Regulation of Cardiac Conduction and Arrhythmias by Ankyrin/Spectrin-Based Macromolecular Complexes.

Journal Of Cardiovascular Development And Disease

Nassal, Drew D; Yu, Jane J; Min, Dennison D; Lane, Cemantha C; Shaheen, Rebecca R; Gratz, Daniel D; Hund, Thomas J TJ

Publication Date: 2021-04-29

Variant appearance in text: SCN5A: E1053K

PubMed Link: 33946725

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of rare heterozygous linkage R965C-R1309H mutations in the pore-forming region of SCN5A gene associated with complex arrhythmia.

Molecular Genetics & Genomic Medicine

Lin, Yubi Y; Qin, Jiading J; Shen, Yuhui Y; Huang, Jiana J; Zhang, Zuoquan Z; Zhu, ZhiLing Z; Lu, Huifang H; Huang, Yin Y; Yin, Yuelan Y; Wang, Ani A; Jin, Lizi L; Hu, Zhenyu Z; Lin, Xiufang X; Jiang, Bin B

Publication Date: 2021-05

Variant appearance in text: SCN5A: E1053K

PubMed Link: 33764691

Variant Present in the following documents:

• Main text
• MGG3-9-e1613.pdf

View BVdb publication page

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Giant ankyrin-G regulates cardiac function.

The Journal Of Biological Chemistry

Cavus, Omer O; Williams, Jordan J; Musa, Hassan H; El Refaey, Mona M; Gratz, Dan D; Shaheen, Rebecca R; Schwieterman, Neill A NA; Koenig, Sara S; Antwi-Boasiako, Steve S; Young, Lindsay J LJ; Xu, Xianyao X; Han, Mei M; Wold, Loren E LE; Hund, Thomas J TJ; Mohler, Peter J PJ; Bradley, Elisa A EA

Publication Date: 2021

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 33675749

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing.

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

Steinfurt, Johannes J; Bezzina, Connie R CR; Biermann, Jürgen J; Staudacher, Dawid D; Marschall, Christoph C; Trolese, Luca L; Faber, Thomas S TS; Duerschmied, Daniel D; Zehender, Manfred M; Bode, Christoph C; Wilde, Arthur A M AAM; Odening, Katja E KE; Lodder, Elisabeth M EM

Publication Date: 2021-05-21

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 33324992

Variant Present in the following documents:

• Main text
• euaa357.pdf

View BVdb publication page

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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: Nav1.5: E1053K

PubMed Link: 33195263

Variant Present in the following documents:

• fcell-08-592893.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: SCN5A: 3157G>A; Glu1053Lys

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.

Clinics (Sao Paulo, Brazil)

Lerario, Antonio Marcondes AM; Mohan, Dipika R DR; Montenegro, Luciana Ribeiro LR; Funari, Mariana Ferreira de Assis MFA; Nishi, Mirian Yumie MY; Narcizo, Amanda de Moraes AM; Benedetti, Anna Flavia Figueredo AFF; Oba-Shinjo, Sueli Mieko SM; Vitorino, Aurélio José AJ; Santos, Rogério Alexandre Scripnic Xavier Dos RASXD; Jorge, Alexander Augusto de Lima AAL; Onuchic, Luiz Fernando LF; Marie, Suely Kazue Nagahashi SKN; Mendonca, Berenice Bilharinho BB

Publication Date: 2020

Variant appearance in text: SCN5A: Glu1053Lys; rs137854617

PubMed Link: 32785571

Variant Present in the following documents:

• Main text
• cln-75-1913.pdf

View BVdb publication page

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Single-Molecule Localization of the Cardiac Voltage-Gated Sodium Channel Reveals Different Modes of Reorganization at Cardiomyocyte Membrane Domains.

Circulation. Arrhythmia And Electrophysiology

Vermij, Sarah H SH; Rougier, Jean-Sébastien JS; Agulló-Pascual, Esperanza E; Rothenberg, Eli E; Delmar, Mario M; Abriel, Hugues H

Publication Date: 2020-07

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 32536203

Variant Present in the following documents:

• hae-13-e008241-s003.pdf
• hae-13-e008241.pdf

View BVdb publication page

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ArrhythmoGenoPharmacoTherapy.

Frontiers In Pharmacology

Tosaki, Arpad A

Publication Date: 2020

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 32477118

Variant Present in the following documents:

• fphar-11-00616.pdf

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: Nav1.5: E1053K

PubMed Link: 32431610

Variant Present in the following documents:

• fphar-11-00550.pdf

View BVdb publication page

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Ankyrin-G mediates targeting of both Na+ and KATP channels to the rat cardiac intercalated disc.

Elife

Yang, Hua-Qian HQ; Pérez-Hernández, Marta M; Sanchez-Alonso, Jose J; Shevchuk, Andriy A; Gorelik, Julia J; Rothenberg, Eli E; Delmar, Mario M; Coetzee, William A WA

Publication Date: 2020-01-14

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 31934859

Variant Present in the following documents:

• Main text
• elife-52373.pdf

View BVdb publication page

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An integrative methodology based on protein-protein interaction networks for identification and functional annotation of disease-relevant genes applied to channelopathies.

Bmc Bioinformatics

Marín, Milagros M; Esteban, Francisco J FJ; Ramírez-Rodrigo, Hilario H; Ros, Eduardo E; Sáez-Lara, María José MJ

Publication Date: 2019-11-12

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 31718537

Variant Present in the following documents:

• 12859_2019_Article_3162.pdf

View BVdb publication page

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Role of SCN5A coding and non-coding sequences in Brugada syndrome onset: What's behind the scenes?

Biomedical Journal

Daimi, Houria H; Khelil, Amel Haj AH; Neji, Ali A; Ben Hamda, Khaldoun K; Maaoui, Sabri S; Aranega, Amelia A; Be Chibani, Jemni J; Franco, Diego D

Publication Date: 2019-08

Variant appearance in text: SCN5A: E1053K

PubMed Link: 31627867

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.

Channels (Austin, Tex.)

Nakajima, Tadashi T; Kaneko, Yoshiaki Y; Dharmawan, Tommy T; Kurabayashi, Masahiko M

Publication Date: 2019-12

Variant appearance in text: SCN5A: E1053K

PubMed Link: 31357904

Variant Present in the following documents:

• Main text
• kchl-13-01-1649521.pdf

View BVdb publication page

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Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European Journal Of Human Genetics : Ejhg

Thauvin-Robinet, Christel C; Thevenon, Julien J; Nambot, Sophie S; Delanne, Julian J; Kuentz, Paul P; Bruel, Ange-Line AL; Chassagne, Aline A; Cretin, Elodie E; Pelissier, Aurore A; Peyron, Chritine C; Gautier, Elodie E; Lehalle, Daphné D; Jean-Marçais, Nolwenn N; Callier, Patrick P; Mosca-Boidron, Anne-Laure AL; Vitobello, Antonio A; Sorlin, Arthur A; Tran Mau-Them, Frédéric F; Philippe, Christophe C; Vabres, Pierre P; Demougeot, Laurent L; Poé, Charlotte C; Jouan, Thibaud T; Chevarin, Martin M; Lefebvre, Mathilde M; Bardou, Marc M; Tisserant, Emilie E; Luu, Maxime M; Binquet, Christine C; Deleuze, Jean-François JF; Verstuyft, Céline C; Duffourd, Yannis Y; Faivre, Laurence L

Publication Date: 2019-08

Variant appearance in text: SCN5A: 3157G>A; Glu1053Lys; rs137854617

PubMed Link: 31019283

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 3157G>A; Glu1053Lys; rs137854617

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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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SCN5A: E1053K; rs137854617

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Novel Mechanistic Roles for Ankyrin-G in Cardiac Remodeling and Heart Failure.

Jacc. Basic To Translational Science

Makara, Michael A MA; Curran, Jerry J; Lubbers, Ellen R ER; Murphy, Nathaniel P NP; Little, Sean C SC; Musa, Hassan H; Smith, Sakima A SA; Unudurthi, Sathya D SD; Rajaram, Murugesan V S MVS; Janssen, Paul M L PML; Boyden, Penelope A PA; Bradley, Elisa A EA; Hund, Thomas J TJ; Mohler, Peter J PJ

Publication Date: 2018-10

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 30456339

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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SCN5A Variants: Association With Cardiac Disorders.

Frontiers In Physiology

Li, Wenjia W; Yin, Lei L; Shen, Cheng C; Hu, Kai K; Ge, Junbo J; Sun, Aijun A

Publication Date: 2018

Variant appearance in text: LQT3: 3157G>A

PubMed Link: 30364184

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports

Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA

Publication Date: 2018-08-24

Variant appearance in text: SCN5A: E1053K

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

View BVdb publication page

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Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.

Circulation

Hosseini, S Mohsen SM; Kim, Raymond R; Udupa, Sharmila S; Costain, Gregory G; Jobling, Rebekah R; Liston, Eriskay E; Jamal, Seema M SM; Szybowska, Marta M; Morel, Chantal F CF; Bowdin, Sarah S; Garcia, John J; Care, Melanie M; Sturm, Amy C AC; Novelli, Valeria V; Ackerman, Michael J MJ; Ware, James S JS; Hershberger, Ray E RE; Wilde, Arthur A M AAM; Gollob, Michael H MH; ,

Publication Date: 2018-09-18

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 29959160

Variant Present in the following documents:

• cir-138-1195-s001.pdf

View BVdb publication page

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Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

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

Truty, Rebecca R; Paul, Joshua J; Kennemer, Michael M; Lincoln, Stephen E SE; Olivares, Eric E; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-01

Variant appearance in text: SCN5A: 3157G>A

PubMed Link: 29895855

Variant Present in the following documents:

• 41436_2018_33_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology.

Frontiers In Physiology

Edokobi, Nnamdi N; Isom, Lori L LL

Publication Date: 2018

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 29740331

Variant Present in the following documents:

• fphys-09-00351.pdf

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: SCN5A: E1053K

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.

Journal Of The American Heart Association

Huang, Lei L; Wu, Kuo-Ho KH; Zhang, Liyong L; Wang, Qinchuan Q; Tang, Shuangbo S; Wu, Qiuping Q; Jiang, Pei-Hsiu PH; Lin, Jim Jung-Ching JJ; Guo, Jian J; Wang, Lin L; Loh, Shih-Hurng SH; Cheng, Jianding J

Publication Date: 2018-01-06

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 29306897

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs137854617

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Ankyrins and Spectrins in Cardiovascular Biology and Disease.

Frontiers In Physiology

El Refaey, Mona M MM; Mohler, Peter J PJ

Publication Date: 2017

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 29163198

Variant Present in the following documents:

• Main text
• fphys-08-00852.pdf

View BVdb publication page

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: SCN5A: 3157G>A; E1053K

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Human iPSC-derived cardiomyocytes cultured in 3D engineered heart tissue show physiological upstroke velocity and sodium current density.

Scientific Reports

Lemoine, Marc D MD; Mannhardt, Ingra I; Breckwoldt, Kaja K; Prondzynski, Maksymilian M; Flenner, Frederik F; Ulmer, Bärbel B; Hirt, Marc N MN; Neuber, Christiane C; Horváth, András A; Kloth, Benjamin B; Reichenspurner, Hermann H; Willems, Stephan S; Hansen, Arne A; Eschenhagen, Thomas T; Christ, Torsten T

Publication Date: 2017-07-14

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 28710467

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• 41598_2017_Article_5600.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: 3157G>A; Glu1053Lys

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: E1053K

PubMed Link: 28150151

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• Main text

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: SCN5A: 3157G>A; Glu1053Lys

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

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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: SCN5A: E1053K

PubMed Link: 27974512

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• Main text

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Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.

Molecular Psychiatry

Rubinstein, M M; Patowary, A A; Stanaway, I B IB; McCord, E E; Nesbitt, R R RR; Archer, M M; Scheuer, T T; Nickerson, D D; Raskind, W H WH; Wijsman, E M EM; Bernier, R R; Catterall, W A WA; Brkanac, Z Z

Publication Date: 2018-02

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 27956748

Variant Present in the following documents:

• mp2016222a.pdf

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: LQT3: E1053K

PubMed Link: 26834636

Variant Present in the following documents:

• Main text
• fphar-06-00314.pdf

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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: SCN5A: E1053K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: SCN5A: E1053K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget

Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD

Publication Date: 2015-08-21

Variant appearance in text: SCN5A: E1053K; rs137854617

PubMed Link: 26062443

Variant Present in the following documents:

• oncotarget-06-20160-s004.xlsx, sheet 1

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Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circulation. Cardiovascular Genetics

Kapplinger, Jamie D JD; Giudicessi, John R JR; Ye, Dan D; Tester, David J DJ; Callis, Thomas E TE; Valdivia, Carmen R CR; Makielski, Jonathan C JC; Wilde, Arthur A AA; Ackerman, Michael J MJ

Publication Date: 2015-08

Variant appearance in text: SCN5A: E1053K

PubMed Link: 25904541

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• Main text

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Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis.

American Journal Of Physiology. Heart And Circulatory Physiology

Willis, B Cicero BC; Ponce-Balbuena, Daniela D; Jalife, José J

Publication Date: 2015-06-15

Variant appearance in text: SCN5A: E1053K

PubMed Link: 25862830

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• Main text

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Multiple lithium-dependent Brugada syndrome unmasking events in a bipolar patient.

Clinical Case Reports

Crawford, Rebecca R RR; Higdon, Ashlee N AN; Casey, David B DB; Good, David E DE; Mungrue, Imran N IN

Publication Date: 2015-01

Variant appearance in text: rs137854617

PubMed Link: 25678966

Variant Present in the following documents:

• Main text
• ccr30003-0014.pdf

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Structural basis of diverse membrane target recognitions by ankyrins.

Elife

Wang, Chao C; Wei, Zhiyi Z; Chen, Keyu K; Ye, Fei F; Yu, Cong C; Bennett, Vann V; Zhang, Mingjie M

Publication Date: 2014-11-10

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 25383926

Variant Present in the following documents:

• elife04353.pdf

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Xin Scaffolding Proteins and Arrhythmias.

Journal Of Cardiology & Clinical Research

Wang, Qinchuan Q; Lin, Jim Jung-Ching JJ

Publication Date: 2013-10-24

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 24734257

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• Main text

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New insights into the roles of Xin repeat-containing proteins in cardiac development, function, and disease.

International Review Of Cell And Molecular Biology

Wang, Qinchuan Q; Lin, Jenny Li-Chun JL; Erives, Albert J AJ; Lin, Cheng-I CI; Lin, Jim Jung-Ching JJ

Publication Date: 2014

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 24725425

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• Main text

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Brugada syndrome risk loci seem protective against atrial fibrillation.

European Journal Of Human Genetics : Ejhg

Andreasen, Laura L; Nielsen, Jonas B JB; Darkner, Stine S; Christophersen, Ingrid E IE; Jabbari, Javad J; Refsgaard, Lena L; Thiis, Jens J JJ; Sajadieh, Ahmad A; Tveit, Arnljot A; Haunsø, Stig S; Svendsen, Jesper H JH; Schmitt, Nicole N; Olesen, Morten S MS

Publication Date: 2014-12

Variant appearance in text: SCN5A: Glu1053Lys; rs137854617

PubMed Link: 24667784

Variant Present in the following documents:

• Main text

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Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Circulation. Cardiovascular Genetics

Hoshi, Malcolm M; Du, Xi X XX; Shinlapawittayatorn, Krekwit K; Liu, Haiyan H; Chai, Sam S; Wan, Xiaoping X; Ficker, Eckhard E; Deschênes, Isabelle I

Publication Date: 2014-04

Variant appearance in text: SCN5A: E1053K

PubMed Link: 24573164

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• Main text

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Electrophysiological properties of mouse and epitope-tagged human cardiac sodium channel Na v1.5 expressed in HEK293 cells.

F1000Research

Reinhard, Katja K; Rougier, Jean-Sébastien JS; Ogrodnik, Jakob J; Abriel, Hugues H

Publication Date: 2013

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 24555036

Variant Present in the following documents:

• f1000research-2-1309.pdf

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Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg

Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH

Publication Date: 2014-03

Variant appearance in text: SCN5A: 3157G>A; Glu1053Lys

PubMed Link: 23838598

Variant Present in the following documents:

• Main text

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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: E1053K

PubMed Link: 23805106

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• Main text

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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

Journal Of Medical Genetics

Mook, Olaf R F OR; Haagmans, Martin A MA; Soucy, Jean-François JF; van de Meerakker, Judith B A JB; Baas, Frank F; Jakobs, Marja E ME; Hofman, Nynke N; Christiaans, Imke I; Lekanne Deprez, Ronald H RH; Mannens, Marcel M A M MM

Publication Date: 2013-09

Variant appearance in text: SCN5A: 3157G>A; Glu1053Lys

PubMed Link: 23785128

Variant Present in the following documents:

• Main text

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Defective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathies.

Biochimica Et Biophysica Acta

Kline, Crystal F CF; Mohler, Peter J PJ

Publication Date: 2014-02

Variant appearance in text: SCN5A: E1053K

PubMed Link: 23732236

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• Main text

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Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.

European Journal Of Human Genetics : Ejhg

Sommariva, Elena E; Pappone, Carlo C; Martinelli Boneschi, Filippo F; Di Resta, Chiara C; Rosaria Carbone, Maria M; Salvi, Erika E; Vergara, Pasquale P; Sala, Simone S; Cusi, Daniele D; Ferrari, Maurizio M; Benedetti, Sara S

Publication Date: 2013-09

Variant appearance in text: SCN5A: 3157G>A

PubMed Link: 23321620

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• Main text

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Cysteine 70 of ankyrin-G is S-palmitoylated and is required for function of ankyrin-G in membrane domain assembly.

The Journal Of Biological Chemistry

He, Meng M; Jenkins, Paul P; Bennett, Vann V

Publication Date: 2012-12-21

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 23129772

Variant Present in the following documents:

• zbc43995.pdf

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Neurological perspectives on voltage-gated sodium channels.

Brain : A Journal Of Neurology

Eijkelkamp, Niels N; Linley, John E JE; Baker, Mark D MD; Minett, Michael S MS; Cregg, Roman R; Werdehausen, Robert R; Rugiero, François F; Wood, John N JN

Publication Date: 2012-09

Variant appearance in text: Nav1.5: E1053K

PubMed Link: 22961543

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• Main text

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Forever young: induced pluripotent stem cells as models of inherited arrhythmias.

Circulation

Park, David S DS; Fishman, Glenn I GI

Publication Date: 2012-06-26

Variant appearance in text: SCN5A: E1053K

PubMed Link: 22647977

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• Main text

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