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Select item 24947531.

Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation

Markéta Bébarová, Tom O'Hara, Jan L. M. C. Geelen, Roselie J. Jongbloed, Carl Timmermans, Yvonne H. Arens, Luz-Maria Rodriguez, Yoram Rudy, Paul G. A. Volders

Am J Physiol Heart Circ Physiol. 2008 Jul; 295(1): H48–H58. Published online 2008 May 2. doi: 10.1152/ajpheart.91495.2007

PMCID:: PMC2494753

Article

Select item 74788682.

E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms

Colin H. Peters, Abeline R. Watkins, Olivia L. Poirier, Peter C. Ruben

J Gen Physiol. 2020 Sep 7; 152(9): e202012595. Published online 2020 Jun 22. doi: 10.1085/jgp.202012595

PMCID:: PMC7478868

Article PDF–4.3M

Select item 58277583.

The efficacy of Ranolazine on E1784K is altered by temperature and calcium

Mena Abdelsayed, Manpreet Ruprai, Peter C. Ruben

Sci Rep. 2018; 8: 3643. Published online 2018 Feb 26. doi: 10.1038/s41598-018-22033-1

PMCID:: PMC5827758

Article PDF–5.4M

Select item 57789544.

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

Lei Huang, Kuo‐Ho Wu, Liyong Zhang, Qinchuan Wang, Shuangbo Tang, Qiuping Wu, Pei‐Hsiu Jiang, Jim Jung‐Ching Lin, Jian Guo, Lin Wang, Shih‐Hurng Loh, Jianding Cheng

J Am Heart Assoc. 2018 Jan; 7(1): e006320. Published online 2018 Jan 6. doi: 10.1161/JAHA.117.006320

PMCID:: PMC5778954

Article PDF–3.3M

Select item 56039065.

Molecular pathological study on LRRC10 in sudden unexplained nocturnal death syndrome in the Chinese Han population

Lei Huang, Shuangbo Tang, Yili Chen, Liyong Zhang, Kun Yin, Yeda Wu, Jinxiang Zheng, Qiuping Wu, Jonathan C. Makielski, Jianding Cheng

Int J Legal Med. Author manuscript; available in PMC 2017 Sep 19.

Published in final edited form as: Int J Legal Med. 2017 May; 131(3): 621–628. Published online 2016 Dec 28. doi: 10.1007/s00414-016-1516-z

PMCID:: PMC5603906

Article PDF–545K

Select item 55994856.

Differential calcium sensitivity in Na_V1.5 mixed syndrome mutants

Mena Abdelsayed, Alban‐Elouen Baruteau, Karen Gibbs, Shubhayan Sanatani, Andrew D. Krahn, Vincent Probst, Peter C. Ruben

J Physiol. 2017 Sep 15; 595(18): 6165–6186. Published online 2017 Aug 20. doi: 10.1113/JP274536

PMCID:: PMC5599485

Article PDF–1.9M

Select item 55330217.

An East Asian Common Variant Vinculin P.Asp841His Was Associated With Sudden Unexplained Nocturnal Death Syndrome in the Chinese Han Population

Jianding Cheng, John W. Kyle, Di Lang, Brandi Wiedmeyer, Jian Guo, Kun Yin, Lei Huang, Ravi Vaidyanathan, Terry Su, Jonathan C. Makielski

J Am Heart Assoc. 2017 Apr; 6(4): e005330. Published online 2017 Apr 3. doi: 10.1161/JAHA.116.005330

PMCID:: PMC5533021

Article PDF–4.4M

Select item 53171648.

Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current

Jianding Cheng, John W. Kyle, Brandi Wiedmeyer, Di Lang, Ravi Vaidyanathan, Jonathan C. Makielski

Sci Rep. 2017; 7: 42953. Published online 2017 Feb 20. doi: 10.1038/srep42953

PMCID:: PMC5317164

Article PDF–2.1M

Select item 50976929.

Does sudden unexplained nocturnal death syndrome remain the autopsy negative disorder: a gross, microscopic, and molecular autopsy investigation in Southern China

Liyong Zhang, David J. Tester, Di Lang, Yili Chen, Jinxiang Zheng, Rui Gao, Robert F. Corliss, Shuangbo Tang, John W. Kyle, Chao Liu, Michael J. Ackerman, Jonathan C. Makielski, Jianding Cheng

Mayo Clin Proc. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: Mayo Clin Proc. 2016 Nov; 91(11): 1503–1514. Published online 2016 Oct 1. doi: 10.1016/j.mayocp.2016.06.031

PMCID:: PMC5097692

Article PDF–591K

Select item 495115910.

Identification of rare variants of DSP gene in Sudden Unexplained Nocturnal Death Syndrome in the southern Chinese Han population

Qianhao Zhao, Yili Chen, Longlun Peng, Rui Gao, Nian Liu, Pingping Jiang, Chao Liu, Shuangbo Tang, Li Quan, Jonathan C. Makielski, Jianding Cheng

Int J Legal Med. Author manuscript; available in PMC 2016 Jul 19.

Published in final edited form as: Int J Legal Med. 2016 Mar; 130(2): 317–322. Published online 2015 Nov 19. doi: 10.1007/s00414-015-1275-2

PMCID:: PMC4951159

Article PDF–124K

Select item 490766711.

The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome

Jinxiang Zheng, Feng Zhou, Terry Su, Lei Huang, Yeda Wu, Kun Yin, Qiuping Wu, Shuangbo Tang, Jonathan C. Makielski, Jianding Cheng

Medicine (Baltimore) 2016 Jun; 95(23): e3836. Published online 2016 Jun 10. doi: 10.1097/MD.0000000000003836

Correction in:: Medicine (Baltimore). 2016 Jul; 95(28): e0916.

PMCID:: PMC4907667

Article PDF–291K

Select item 471223812.

Genetic screening in sudden cardiac death in the young can save future lives

Eva-Lena Stattin, Ida Maria Westin, Kristina Cederquist, Jenni Jonasson, Björn-Anders Jonsson, Stellan Mörner, Anna Norberg, Peter Krantz, Aase Wisten

Int J Legal Med. 2016; 130(1): 59–66. Published online 2015 Jul 31. doi: 10.1007/s00414-015-1237-8

PMCID:: PMC4712238

Article PDF–328K

Select item 293093613.

Sudden unexplained nocturnal death syndrome in southern China: epidemiological survey and SCN5A gene screening

Jianding Cheng, Jonathan C. Makielski, Ping Yuan, Nianqing Shi, Feng Zhou, Bin Ye, Bi-Hua Tan, Stacie Kroboth, Shuangbo Tang, Ciyong Lu

Am J Forensic Med Pathol. Author manuscript; available in PMC 2011 Dec 1.

Published in final edited form as: Am J Forensic Med Pathol. 2011 Dec; 32(4): 359–363. doi: 10.1097/PAF.0b013e3181d03d02

PMCID:: PMC2930936

Article PDF–402K

Select item 1079182814.

GPD1L-A306del modifies sodium current in a family carrying the dysfunctional SCN5A-G1661R mutation associated with Brugada syndrome

Francesca Semino, Fabrice F. Darche, Claus Bruehl, Michael Koenen, Heyko Skladny, Hugo A. Katus, Norbert Frey, Andreas Draguhn, Patrick A. Schweizer

Pflugers Arch. 2024; 476(2): 229–242. Published online 2023 Dec 1. doi: 10.1007/s00424-023-02882-0

PMCID:: PMC10791828

Article PDF–1.8M

Select item 1077790915.

Role of Genetic Variation in Transcriptional Regulatory Elements in Heart Rhythm

Timo Jonker, Phil Barnett, Gerard J. J. Boink, Vincent M. Christoffels

Cells. 2024 Jan; 13(1): 4. Published online 2023 Dec 19. doi: 10.3390/cells13010004

PMCID:: PMC10777909

Article PDF–1.3M

Select item 1073141516.

Brugada syndrome and job fitness: report of three cases

Stefano M. CANDURA, Daniela VANOLI, Andrea MAZZANTI, Luca D’AMATO, Silvia G. PRIORI, Fabrizio SCAFA

Ind Health. 2023 Nov; 61(6): 455–461. Published online 2023 Feb 2. doi: 10.2486/indhealth.2022-0205

PMCID:: PMC10731415

Article PDF–1.2M

Select item 1072450717.

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

Hung Manh Pham, Duy Phuong Nguyen, Thanh Dat Ta, Thi Phuong Le, Phong Hai 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

PMCID:: PMC10724507

Article PDF–2.3M

Select item 1072369118.

In silico analysis of TRPM4 variants of unknown clinical significance

Svetlana I. Tarnovskaya, Anna A. Kostareva, Boris S. Zhorov

PLoS One. 2023; 18(12): e0295974. Published online 2023 Dec 15. doi: 10.1371/journal.pone.0295974

PMCID:: PMC10723691

Article PDF–3.4M

Select item 1070643419.

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

Article PDF–2.2M

Select item 1060641620.

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