Results 21 to 30 of about 3,466 (187)

The Human SCN10AG1662S Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity

Frontiers in Pharmacology, 2021
The voltage-gated sodium channel NAV1.8 is expressed in primary nociceptive neurons and is involved in pain transmission. Mutations in the SCN10A gene (encoding NAV1.8 channel) have been identified in patients with idiopathic painful small fiber ...
Celeste Chidiac, Yaping Xue, Maria del Mar Muniz Moreno, Ameer Abu Bakr Rasheed, Romain Lorentz, Marie-Christine Birling, Claire Gaveriaux-Ruff, Yann Herault, Yann Herault   +8 more
doaj   +1 more source

Heritability and causality of QRS duration and chronic heart failure risk. [PDF]

ESC Heart Fail
Methodological framework used to investigate the heritability using linkage disequilibrium score regression (LDSC) and causal relationship between QRS duration (exposure) and chronic heart failure (outcome) using Mendelian randomization. QRS data were sourced from GWAS and exome‐wide association studies (EWAS), and chronic heart failure GWAS data were ...
Zheng Z, Li X, Song Y.
europepmc   +2 more sources

Blockade of NaV1.8 Increases the Susceptibility to Ventricular Arrhythmias During Acute Myocardial Infarction

Frontiers in Cardiovascular Medicine, 2021
SCN10A/NaV1.8 may be associated with a lower risk of ventricular fibrillation in the setting of acute myocardial infarction (AMI), but if and by which mechanism NaV1.8 impacts on ventricular electrophysiology is still a matter of debate.
Baozhen Qi, Shimo Dai, Yu Song, Dongli Shen, Fuhai Li, Lanfang Wei, Chunyu Zhang, Zhenning Nie, Jiaxiong Lin, Lidong Cai, Junbo Ge   +10 more
doaj   +1 more source

Generation of homozygous Nav1.8 knock-out iPSC lines by CRISPR Cas9 genome editing to investigate a potential new antiarrhythmic strategy

Stem Cell Research, 2022
The sodium channel Nav1.8, encoded by SCN10A, is reported to contribute to arrhythmogenesis by inducing the late INa and thereby enhanced persistent Na+ current. However, its exact electrophysiological role in cardiomyocytes remains unclear.
Wiebke Maurer, Nico Hartmann, Loukas Argyriou, Samuel Sossalla, Katrin Streckfuss-Bömeke   +4 more
doaj   +1 more source

A common genetic variant within SCN10A modulates cardiac SCN5A expression [PDF]

Journal of Clinical Investigation, 2014
Variants in SCN10A, which encodes a voltage-gated sodium channel, are associated with alterations of cardiac conduction parameters and the cardiac rhythm disorder Brugada syndrome; however, it is unclear how SCN10A variants promote dysfunctional cardiac conduction.
van den Boogaard, Malou, Smemo, Scott, Burnicka-Turek, Ozanna, Arnolds, David E., van de Werken, Harmen J. G., Klous, Petra, McKean, David, Muehlschlegel, Jochen D., Moosmann, Julia, Toka, Okan, Yang, Xinan H., Koopmann, Tamara T., Adriaens, Michiel E., Bezzina, Connie R., de Laat, Wouter, Seidman, Christine, Seidman, J. G., Christoffels, Vincent M., Nobrega, Marcelo A., Barnett, Phil, Moskowitz, Ivan P.   +20 more
openaire   +5 more sources

NovelSCN10Avariants associated with Brugada syndrome [PDF]

Europace, 2015
The expression of sodium channel Nav1.8 in cardiac nervous systems has been identified, and variants of SCN10A that encodes Nav1.8 contribute to the development of Brugada syndrome (BrS) by modifying the function of Nav1.5 or directly reducing the sodium current.
Megumi, Fukuyama, Seiko, Ohno, Takeru, Makiyama, Minoru, Horie   +3 more
openaire   +2 more sources

SCN10A-Dependent Late I _Na Current [PDF]

Circulation: Genomic and Precision Medicine, 2018
See Article by Macri et al Voltage-gated Na+ channels are activated on depolarization leading to a rapid influx of Na+ ions (INa) generating the fast upstroke of the cardiac action potential (AP).1 Na+ channels usually inactivate within milliseconds after depolarization.
Lars S, Maier, Samuel, Sossalla, Eric, Schulze-Bahr   +2 more
openaire   +2 more sources

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation [PDF]

, 2017
Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death. Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups. To further define the
A Deshmukh, Albert Hofman, Albert Sun, Albert V Smith, Alex P Reiner, Alexander Teumer, Alexandre Pereira, Alfredo J Mansur, Alvaro Alonso, Anders Hamsten, Andre G Uitterlinden, Andrea R V R Horimoto, Andrew P Morris, Annette Peters, AP Boyle, Archie Campbell, Bastiaan Geelhoed, Blair H Smith, Bradford B Worrall, Bruce M Psaty, Bruno H Stricker, Carolina Roselli, Caroline Hayward, Cecilia M Lindgren, Charles Kooperberg, Christian Shaffer, Christine M Albert, Christopher D Anderson, Christopher Newton-Cheh, CJ Hoggart, CJ Willer, Claudia Schurmann, CT January, D Welter, Dan E Arking, Dan M Roden, Daniel I Chasman, Daniel J Rader, David Conen, David Porteous, David R Van Wagoner, Dawood Darbar, Derek Klarin, DF Gudbjartsson, DF Gudbjartsson, DF Seals, DM Lloyd-Jones, E Eden, Efthymia Vlachopoulou, EJ Benjamin, Elsayed Z Soliman, Emelia J Benjamin, Eric Boerwinkle, Erik Ingelsson, Erwin B Bottinger, F Dudbridge, Farid Radmanesh, G Laumet, Ganesh Chauhan, Graciela Delgado, Guillaume Paré, H Holm, Henry J Lin, Honghuang Lin, I Pe'er, Ian Ford, Ilkka Seppälä, Ingrid E Christophersen, J Gustav Smith, J Wouter Jukema, J Yang, Jan Heeringa, Jared W Magnani, Jari Laurikka, Jeffrey Haessler, Jemma C Hopewell, Jennifer A Brody, Jennifer Huffman, Jennifer Kriebel, Jerome I Rotter, Jie Huang, Jie Yao, John Barnard, Jonathan D Smith, Jonathan Rosand, Jorge A Wong, Jose E Krieger, Joshua C Bis, Joshua C Denny, Joylene E Siland, Juha Sinisalo, Jussi Hernesniemi, Karl-Heinz Jöckel, Kathryn L Lunetta, Kent D Taylor, Kjell Nikus, Lars Lannfelt, Lars Lind, LD Ward, Lenore J Launer, Leo-Pekka Lyytikäinen, Lewin Eisele, Lin Y Chen, Lorenz Risch, Lu-Chen Weng, Lynne J Hocking, M Arnold, M Benjamin Shoemaker, Maartje N Niemeijer, Man Li, Marco Perez, Marcus Dörr, Marcus E Kleber, Marina Arendt, Marja-Liisa Lokki, Marju Orho-Melander, Mark Chaffin, Markku Eskola, Martin Dichgans, Martina Müller-Nurasyid, Melanie Waldenberger, MF Sinner, Michiaki Kubo, Michiel Rienstra, Mika Kähönen, Mina K Chung, Molong Li, Moritz F Sinner, MR Nelson, Nancy L Pedersen, Natalia Rost, Nathan A Bihlmeyer, Nathan R Tucker, Niek Verweij, Nona Sotoodehnia, Olle Melander, Oscar H Franco, P Cejudo-Martin, P Weeke, Patrick T Ellinor, Patrik K Magnusson, Paul L Huang, Paul M Ridker, PC Sham, Peter Almgren, Peter E Weeke, Peter Lichtner, Peter W Macfarlane, Pim van der Harst, PT Ellinor, PT Ellinor, Qiong Yang, R Malik, Rainer Malik, Rajat Deo, RJ Pruim, Roopinder K Sandhu, Ruth J F Loos, S Kuriyama, S Lee, S Purcell, Sandosh Padmanabhan, Sebastian Clauss, Sekar Kathiresan, Seung Hoan Choi, Siegfried Perz, Siew-Kee Low, SS Chugh, ST Sherry, Stefan Gustafsson, Stefan Kääb, Stefan Weiss, Stefanie Aeschbacher, Stefanie Heilmann-Heimbach, Stella Trompet, Stephan B Felix, Stephanie Debette, Steven A Lubitz, Stuart A Scott, Susan R Heckbert, Svati H Shah, Sébastien Thériault, Tamara B Harris, Terho Lehtimäki, TH Pers, TH Pers, Toshihiro Tanaka, Traci M Bartz, Uwe Völker, Vilmundur Gudnason, Winfried März, Xiaoyan Yin, Xiuqing Guo, Y Benjamini, Yanick P Hagemeijer, Yii-Der Ida Chen, Yingchang Lu, Yoichiro Kamatani   +197 more
core   +20 more sources

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

, 2020
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin   +44 more
core   +1 more source

Rare SCN10A variants associated with cardiac conduction system diseases [PDF]

European Heart Journal, 2020
Abstract Background The genetic bases of cardiac conduction-system disease (CCSD) range from ion channelopathies to mutations in many other genes. Genome-wide association studies have shown common variants in SCN10A influence cardiac conduction.
K Hayashi, N Fujino, H Furusho, S Usui, K Sakata, T Kato, T Tsuda, S Niwa, K Takeuchi, M Kawashiri, M Takamura   +10 more
openaire   +1 more source