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Select item 109335551.

NEDD4L intramolecular interactions regulate its auto and substrate Na_V1.5 ubiquitination

Katharine M. Wright, Sara Nathan, Hanjie Jiang, Wendy Xia, HyoJeon Kim, Nourdine Chakouri, Justin N. Nwafor, Lucile Fossier, Lakshmi Srinivasan, Zan Chen, Tatiana Boronina, Jeremy Post, Suman Paul, Robert N. Cole, Manu Ben-Johny, Philip A. Cole, Sandra B. Gabelli

J Biol Chem. 2024 Mar; 300(3): 105715. Published online 2024 Feb 2. doi: 10.1016/j.jbc.2024.105715

PMCID:: PMC10933555

Abstract Article PDF–5.1M

Select item 107245072.

In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome

Hung Manh Pham, Duy Phuong Dang, Thanh Dat Ta, Thi Phuong Le, Dinh Phong Phan, Hoai An Trinh, Tuan Viet Tran, Thi Lan Anh Luong, Ha Minh Nguyen, The‐Hung Bui, Thinh Huy Tran, Thanh Van Ta, Van‐Khanh Tran

Mol Genet Genomic Med. 2023 Dec; 11(12): e2263. Published online 2023 Aug 7. doi: 10.1002/mgg3.2263

Correction in:: Mol Genet Genomic Med. 2024 Jul; 12(7): e2487.

PMCID:: PMC10724507

Abstract Article PDF–2.3M

Select item 107064343.

Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes

Adriana Tarantino, Giuseppe Ciconte, Andrea Ghiroldi, Flavio Mastrocinque, Emanuele Micaglio, Antonio Boccellino, Gabriele Negro, Marco Piccoli, Federica Cirillo, Gabriele Vicedomini, Vincenzo Santinelli, Luigi Anastasia, Carlo Pappone

Int J Mol Sci. 2023 Dec; 24(23): 16658. Published online 2023 Nov 23. doi: 10.3390/ijms242316658

PMCID:: PMC10706434

Abstract Article PDF–2.2M

Select item 106739324.

Biophysical properties of Na_V1.5 channels from atrial-like and ventricular-like cardiomyocytes derived from human induced pluripotent stem cells

Charles-Albert Chapotte-Baldacci, Marion Pierre, Mohammed Djemai, Valérie Pouliot, Mohamed Chahine

Sci Rep. 2023; 13: 20685. Published online 2023 Nov 24. doi: 10.1038/s41598-023-47310-6

PMCID:: PMC10673932

Abstract Article PDF–5.7M

Select item 106064165.

Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights

Anthony Frosio, Emanuele Micaglio, Ivan Polsinelli, Serena Calamaio, Dario Melgari, Rachele Prevostini, Andrea Ghiroldi, Anna Binda, Paola Carrera, Marco Villa, Flavio Mastrocinque, Silvia Presi, Raffaele Salerno, Antonio Boccellino, Luigi Anastasia, Giuseppe Ciconte, Stefano Ricagno, Carlo Pappone, Ilaria Rivolta

Int J Mol Sci. 2023 Oct; 24(20): 15089. Published online 2023 Oct 11. doi: 10.3390/ijms242015089

PMCID:: PMC10606416

Abstract Article PDF–2.4M

Select item 105757756.

MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention

Bettina Weigel, Jana F. Tegethoff, Sarah D. Grieder, Bryce Lim, Bhuvaneswari Nagarajan, Yu-Chao Liu, Jule Truberg, Dimitris Papageorgiou, Juan M. Adrian-Segarra, Laura K. Schmidt, Janina Kaspar, Eric Poisel, Elisa Heinzelmann, Manu Saraswat, Marleen Christ, Christian Arnold, Ignacio L. Ibarra, Joaquin Campos, Jeroen Krijgsveld, Hannah Monyer, Judith B. Zaugg, Claudio Acuna, Moritz Mall

Mol Psychiatry. 2023; 28(5): 2122–2135. Published online 2023 Feb 14. doi: 10.1038/s41380-023-01959-7

PMCID:: PMC10575775

Abstract Article PDF–9.5M

Select item 102537537.

Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells

Nicolò Salvarani, Giovanni Peretto, Crasto Silvia, Andrea Villatore, Cecilia Thairi, Anna Santoni, Camilla Galli, Paola Carrera, Simone Sala, Sara Benedetti, Elisa Di Pasquale, Chiara Di Resta

Int J Mol Sci. 2023 Jun; 24(11): 9548. Published online 2023 May 31. doi: 10.3390/ijms24119548

PMCID:: PMC10253753

Abstract Article PDF–1.6M

Select item 102095188.

Inhibition of Wnt/β‐catenin signaling upregulates Na_v1.5 channels in Brugada syndrome iPSC‐derived cardiomyocytes

Aizhu Lu, Ruonan Gu, Cencen Chu, Ying Xia, Jerry Wang, Darryl R. Davis, Wenbin Liang

Physiol Rep. 2023 May; 11(10): e15696. Published online 2023 May 24. doi: 10.14814/phy2.15696

PMCID:: PMC10209518

Abstract Article PDF–9.7M

Select item 100228709.

Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia

Giulia Campostrini, Georgios Kosmidis, Dorien Ward-van Oostwaard, Richard Paul Davis, Loukia Yiangou, Daniele Ottaviani, Christiaan Cornelis Veerman, Hailiang Mei, Valeria Viktorovna Orlova, Arthur Arnold Maria Wilde, Connie Rose Bezzina, Arie Otto Verkerk, Christine Lindsay Mummery, Milena Bellin

Cardiovasc Res. 2023 Jan; 119(1): 167–182. Published online 2022 Apr 8. doi: 10.1093/cvr/cvac059

PMCID:: PMC10022870

Abstract Article PDF–1.6M

Select item 976823910.

Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome

Gan-Xiao Chen, Hector Barajas-Martínez, Giuseppe Ciconte, Cheng-I Wu, Michelle M. Monasky, Hao Xia, Bian Li, John A. Capra, Kai Guo, Zhong-He Zhang, Xiu Chen, Bo Yang, Hong Jiang, Gary Tse, Chloe Miu Mak, Yoshiyasu Aizawa, Michael H. Gollob, Charles Antzelevitch, Arthur A.M. Wilde, Carlo Pappone, Dan Hu

eBioMedicine. 2023 Jan; 87: 104388. Published online 2022 Dec 12. doi: 10.1016/j.ebiom.2022.104388

PMCID:: PMC9768239

Abstract Article PDF–2.0M

Select item 968975311.

SCN5A Mutations Associate With Arrhythmic Dilated Cardiomyopathy and Commonly Localize to the Voltage-Sensing Mechanism

William P. McNair, Gianfranco Sinagra, Matthew R. G. Taylor, Andrea Di Lenarda, Debra A. Ferguson, Ernesto E. Salcedo, Dobromir Slavov, Xiao Zhu, John H. Caldwell, Luisa Mestroni, the Familial Cardiomyopathy Registry Research Group

J Am Coll Cardiol. Author manuscript; available in PMC 2022 Nov 24.

Published in final edited form as: J Am Coll Cardiol. 2011 May 24; 57(21): 2160–2168. doi: 10.1016/j.jacc.2010.09.084

PMCID:: PMC9689753

Abstract Article PDF–767K

Select item 939245312.

Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na_V1.5)

Monica Lopes-Marques, Raquel Silva, Catarina Serrano, Verónica Gomes, Ana Cardoso, Maria João Prata, Antonio Amorim, Luisa Azevedo

PeerJ. 2022; 10: e13913. Published online 2022 Aug 17. doi: 10.7717/peerj.13913

PMCID:: PMC9392453

Abstract Article PDF–2.8M

Select item 928197913.

Relationship between SCN5A gene H558R polymorphism and atrial fibrillation in Tibetan and Han nationalities at high altitude

Jiang Liu, Fengcai Yao, Kaiyue Han, Jinping Chai, Dekuan Tian, Jinwei Zhang, Rong Wang, Wei Li, Yanmei Shen, Yuanfeng Ma, Sang Geng, Xiaoling Su

Medicine (Baltimore) 2021 Mar 26; 100(12): e25229. Published online 2021 Mar 26. doi: 10.1097/MD.0000000000025229

PMCID:: PMC9281979

Abstract Article PDF–423K

Select item 926261414.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Abstract Article PDF–3.6M

Select item 926241815.

Dominant negative effects of SCN5A missense variants

Matthew J. O’Neill, Ayesha Muhammad, Bian Li, Yuko Wada, Lynn Hall, Joseph F. Solus, Laura Short, Dan M. Roden, Andrew M. Glazer

Genet Med. Author manuscript; available in PMC 2022 Jul 7.

Published in final edited form as: Genet Med. 2022 Jun; 24(6): 1238–1248. Published online 2022 Mar 16. doi: 10.1016/j.gim.2022.02.010

PMCID:: PMC9262418

Abstract Article PDF–783K

Select item 907201816.

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

Yao-Bin Zhu, Jian-Hui Zhang, Yuan-Yuan Ji, Ya-Nan Hu, Han-Lu Wang, Dan-Dan Ruan, Xiao-Rong Meng, Xin-Fu Lin, Jie-Wei Luo, Wei Chen

Cardiol Res Pract. 2022; 2022: 9716045. Published online 2022 Apr 28. doi: 10.1155/2022/9716045

PMCID:: PMC9072018

Abstract Article PDF–7.6M

Select item 903552717.

Brugada Syndrome in Women: What Do We Know After 30 Years?

Estefanía Martínez-Barrios, Elena Arbelo, Sergi Cesar, José Cruzalegui, Victoria Fiol, Nuria Díez-Escuté, Clara Hernández, Ramon Brugada, Josep Brugada, Oscar Campuzano, Georgia Sarquella-Brugada

Front Cardiovasc Med. 2022; 9: 874992. Published online 2022 Apr 11. doi: 10.3389/fcvm.2022.874992

PMCID:: PMC9035527

Abstract Article PDF–655K

Select item 897723718.

Developmental Changes in Cardiac Expression of KCNQ1 and SCN5A Spliceoforms: Implications for Sudden Unexpected Infant Death

Alexandra F Williams, Audra F Bryan, Kelsey Tomasek, Carlos A Fulmer, Kyle Gregory, Cole Bozeman, Feng Li, Tarek S Absi, Yan Ru Su, Prince J Kannankeril

Heart Rhythm. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Heart Rhythm. 2022 Apr; 19(4): 667–673. Published online 2021 Nov 26. doi: 10.1016/j.hrthm.2021.11.031

PMCID:: PMC8977237

Abstract Article PDF–827K

Select item 893936319.

Spliced isoforms of the cardiac Nav1.5 channel modify channel activation by distinct structural mechanisms

Adamo S. Mancino, William G. Glass, Yuhao Yan, Philip C. Biggin, Derek Bowie

J Gen Physiol. 2022 May 2; 154(5): e202112906. Published online 2022 Mar 17. doi: 10.1085/jgp.202112906

PMCID:: PMC8939363

Abstract Article PDF–3.5M

Select item 887885120.

Veratridine Can Bind to a Site at the Mouth of the Channel Pore at Human Cardiac Sodium Channel Na_V1.5

Alican Gulsevin, Andrew M. Glazer, Tiffany Shields, Brett M. Kroncke, Dan M. Roden, Jens Meiler

Int J Mol Sci. 2022 Feb; 23(4): 2225. Published online 2022 Feb 17. doi: 10.3390/ijms23042225

PMCID:: PMC8878851

Abstract Article PDF–2.1M

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