Systematic analysis of SCN5A variants associated with inherited cardiac diseases

Author:

Hermida AlexisORCID,Jedraszak Guillaume,Ader Flavie,Denjoy Isabelle,Fressart Véronique,Maury Phillipe,Beyls Christophe,Bloch Adrien,Clerici Gaël,Daire Elise,Defaye Pascal,Dupin-Deguine Delphine,Garçon Loic,Klug Didier,Ginglinger Emmanuelle,Hermida Jean-Sylvain,Jesel Laurence,Khraiche Diala,Kubala Maciej,Lacotte Jérôme,Laredo Mikael,Leenhardt Antoine,Le Guillou Xavier,Lesaffre Francois,Maltret Alice,Magnin-Poull Isabelle,Marijon Eloi,Nambot Sophie,Neyroud Nathalie,Ninni Sandro,Palmyre Aurélien,Pasquie Jean Luc,Proukhnitzky Julie,Reant Patricia,Richard Pascale,Rollin Anne,Rooryck Caroline,Sacher Frédéric,Schaefer Elise,Vernier Agathe,Winum Pierre-François,Wahbi Karim,Waintraub Xavier,Waldmann Victor,Weber Sacha,Zouaghi Amir,Charron Philippe,Extramiana Fabrice,Gandjbakhch Estelle

Publisher

Elsevier BV

Reference32 articles.

1. Arrhythmic phenotypes are a defining feature of dilated cardiomyopathy–associated SCN5A variants: a systematic review;Peters;Circ Genom Precis Med,2022

2. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing;Kapplinger;Heart Rhythm,2010

3. SCN5A variants: association with cardiac disorders;Li;Front Physiol,2018

4. SCN5A channelopathies—an update on mutations and mechanisms;Zimmer;Prog Biophys Mol Biol,2008

5. Structure of human Nav1.5 reveals the fast inactivation–related segments as a mutational hotspot for the long QT syndrome;Li;Proc Natl Acad Sci U S A,2021

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3