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Items: 1 to 20 of 320

1.
Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant
Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Viviana A. Ruiz-Pozo, Rafael Tamayo-Trujillo, Elius Paz-Cruz, Daniel Simancas-Racines, Rita Ibarra-Castillo, José Luis Laso-Bayas, Ana Karina Zambrano
BMC Cardiovasc Disord. 2024; 24: 388. Published online 2024 Jul 27. doi: 10.1186/s12872-024-04049-w
PMCID:
PMC11282620
AbstractArticlePDF–2.3M
2.
NEDD4L intramolecular interactions regulate its auto and substrate NaV1.5 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
AbstractArticlePDF–5.1M
3.
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
AbstractArticlePDF–2.3M
4.
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
AbstractArticlePDF–2.2M
5.
Biophysical properties of NaV1.5 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
AbstractArticlePDF–5.7M
6.
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
AbstractArticlePDF–2.4M
7.
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
AbstractArticlePDF–9.5M
8.
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
AbstractArticlePDF–1.6M
9.
Inhibition of Wnt/β‐catenin signaling upregulates Nav1.5 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
AbstractArticlePDF–9.7M
10.
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
AbstractArticlePDF–1.6M
11.
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
AbstractArticlePDF–2.0M
12.
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
AbstractArticlePDF–767K
13.
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (NaV1.5)
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
AbstractArticlePDF–2.8M
14.
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
AbstractArticlePDF–423K
15.
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
AbstractArticlePDF–3.6M
16.
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
AbstractArticlePDF–783K
17.
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
AbstractArticlePDF–7.6M
18.
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
AbstractArticlePDF–655K
19.
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
AbstractArticlePDF–827K
20.
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
AbstractArticlePDF–3.5M

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