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: 468G>A; Trp156Ter
Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?
Genes
Di Resta, Chiara C; Berg, Jan J; Villatore, Andrea A; Maia, Marianna M; Pili, Gianluca G; Fioravanti, Francesco F; Tomaiuolo, Rossella R; Sala, Simone S; Benedetti, Sara S; Peretto, Giovanni G
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia.
Cardiovascular Research
Campostrini, Giulia G; Kosmidis, Georgios G; Ward-van Oostwaard, Dorien D; Davis, Richard P RP; Yiangou, Loukia L; Ottaviani, Daniele D; Veerman, Christiaan C CC; Mei, Hailiang H; Orlova, Valeria V VV; Wilde, Arthur A M AAM; Bezzina, Connie R CR; Verkerk, Arie O AO; Mummery, Christine L CL; Bellin, Milena M
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
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
Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report.
Frontiers In Cardiovascular Medicine
Nijak, Aleksandra A; Labro, Alain J AJ; De Wilde, Hans H; Dewals, Wendy W; Peigneur, Steve S; Tytgat, Jan J; Snyders, Dirk D; Sieliwonczyk, Ewa E; Simons, Eline E; Van Craenenbroeck, Emeline E; Schepers, Dorien D; Van Laer, Lut L; Saenen, Johan J; Loeys, Bart B; Alaerts, Maaike M
Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1.
Computational And Structural Biotechnology Journal
Kroncke, Brett M BM; Mendenhall, Jeffrey J; Smith, Derek K DK; Sanders, Charles R CR; Capra, John A JA; George, Alfred L AL; Blume, Jeffrey D JD; Meiler, Jens J; Roden, Dan M DM
Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na+ channel blocking pharmacotherapy for de novo conduction disease.
Plos One
Liu, Jie J; Bayer, Jason D JD; Aschar-Sobbi, Roozbeh R; Wauchop, Marianne M; Spears, Danna D; Gollob, Michael M; Vigmond, Edward J EJ; Tsushima, Robert R; Backx, Peter H PH; Chauhan, Vijay S VS
Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death.
Biology
Coll, Monica M; Pérez-Serra, Alexandra A; Mates, Jesus J; Del Olmo, Bernat B; Puigmulé, Marta M; Fernandez-Falgueras, Anna A; Iglesias, Anna A; Picó, Ferran F; Lopez, Laura L; Brugada, Ramon R; Campuzano, Oscar O
Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity.
American Journal Of Physiology. Gastrointestinal And Liver Physiology
Strege, Peter R PR; Mazzone, Amelia A; Bernard, Cheryl E CE; Neshatian, Leila L; Gibbons, Simon J SJ; Saito, Yuri A YA; Tester, David J DJ; Calvert, Melissa L ML; Mayer, Emeran A EA; Chang, Lin L; Ackerman, Michael J MJ; Beyder, Arthur A; Farrugia, Gianrico G
Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation.
Journal Of The American Heart Association
Veerman, Christiaan C CC; Mengarelli, Isabella I; Lodder, Elisabeth M EM; Kosmidis, Georgios G; Bellin, Milena M; Zhang, Miao M; Dittmann, Sven S; Guan, Kaomei K; Wilde, Arthur A M AAM; Schulze-Bahr, Eric E; Greber, Boris B; Bezzina, Connie R CR; Verkerk, Arie O AO
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
Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.
Frontiers In Pharmacology
Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Boutjdir, Mohamed M; Chahine, Mohamed M
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
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.
Clinical And Translational Science
Cheng, Jianding J; Morales, Ana A; Siegfried, Jill D JD; Li, Duanxiang D; Norton, Nadine N; Song, Junyao J; Gonzalez-Quintana, Jorge J; Makielski, Jonathan C JC; Hershberger, Ray E RE
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.
Jama
Olson, Timothy M TM; Michels, Virginia V VV; Ballew, Jeffrey D JD; Reyna, Sandra P SP; Karst, Margaret L ML; Herron, Kathleen J KJ; Horton, Steven C SC; Rodeheffer, Richard J RJ; Anderson, Jeffrey L JL