Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel

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成果类型：

期刊论文

作者：

Chen, Jia;Li, Hong;Guo, Sicheng;Yang, Zhe;Sun, Shaoping;...

通讯作者：

Hong Yue<&wdkj&>Yuting Ma<&wdkj&>Yubi Lin

作者机构：

[Chen, Yechang; Chen, Jia; Yang, Zhe; Sun, Shaoping; Guo, Sicheng; Zeng, JunJie; Gou, Hongjuan; Li, Hong; Ma, Yuting; Lin, Yubi; Yue, Hong] Guangdong Med Univ, Dongguan Affiliated Hosp 1, Dongguan 523710, Guangdong, Peoples R China.

[Lin, Yanping; Chen, Jia; Huang, Kun] Second Peoples Hosp Guangdong Prov, Dept Cardiol 2, Dept Obstet & Gynecol, Guangzhou 510310, Guangdong, Peoples R China.

[Li, Hong] Univ Hong Kong, Shenzhen Hosp, Shenzhen 518048, Guangdong, Peoples R China.

[Guo, Sicheng] Hunan Agr Univ, Coll Plant Protect, Changsha 410128, Hunan, Peoples R China.

[Yang, Zhe] Jinan Univ, Dept Endocrinol & Metab, Zhuhai Hosp, Zhuhai 519000, Peoples R China.

通讯机构：

[Hong Yue; Yuting Ma; Yubi Lin] T

The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, China<&wdkj&>The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, China<&wdkj&>College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China<&wdkj&>The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, China<&wdkj&>Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangdong Geriatrics Institute, Guangdong Cardiovascular Institute, Guangzhou, China

语种：

英文

关键词：

Arrhythmia;Brugada syndrome;Long QT syndrome;Natriuretic peptide precursor A;Nebulette

期刊：

Orphanet Journal of Rare Diseases

ISSN：

1750-1172

年：

2022

卷：

期：

页码：

1-14

DOI：

10.1186/s13023-022-02542-z

基金类别：

These fundings supported this study: Talent Development Foundation and High-Level Talent Research Program of The First Dongguan Affiliated Hospital of Guangdong Medical University (GCC2022002), the Science Project of the Second People's Hospital of Guangdong Province [TQ2019-005 and YQ2017-003] and the Medical Science and Technology Research Project of Guangdong Province [A2020069].

机构署名：

本校为其他机构

院系归属：

植物保护学院

摘要：

BACKGROUND: Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed "inherited primary arrhythmia syndromes" and "channelopathies", which lead to sudden cardiac death. METHODS: Detailed clinical information of Brs and LQTs patients was collected. Genomic DNA samples of peripheral blood were conducted for whole-exome sequencing on the Illumina HiSeq 2000 platform. Then, we performed bioinformatics analysis for 200 genes susceptible to arrhythmias and cardiomyopathies. Protein interaction and transcriptomic co-expression were ana...

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Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel

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