日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2

对疑似特发性室颤患者进行KCNH2复合杂合性的鉴定和功能评估,可确诊为2型长QT综合征。

Janková, Natálie; Král, Martin; Švecová, Olga; Zídková, Jana; Lietava, Samuel; Sladeček, Stanislava; Pacherník, Jiří; Pásek, Michal; Novotný, Tomáš; Bébarová, Markéta

The Role of Loss-of-Function KCNH2 Variants in Cardiac Arrhythmias, Seizures and the Risk of Sudden Unexpected Death in Epilepsy

KCNH2 功能丧失变异体在心律失常、癫痫发作和癫痫猝死风险中的作用

Lee, Hian M; Gan, Xue N; Aung, Khaing Phyu; Forster, Ian C; Reid, Christopher A; Soh, Ming S

Sudden death-associated KCNH2 variants exert opposing effects on a nuclear subdomain of the cardiac potassium channel hERG1

与猝死相关的KCNH2变体对心脏钾通道hERG1的核亚结构域产生相反的作用

Sanchez-Conde, Francisco G; Goodrich, Matthew R; Stack, Olivia M; Goldberg, Louis N R; Ruzycki, Pamela K; Jain, Abhilasha; Jimenez-Vazquez, Eric N; Jones, David K

Personalized in vitro models reveal functional impact of a KCNH2 mutation and enable drug screening in LQTS2

个性化体外模型揭示了KCNH2突变的功能影响,并可用于LQTS2的药物筛选。

Zheng, Bingyu; Zhu, Yue; Sun, Mingyu; Cheng, Hongyi; Zhang, Shimeng; Cai, Cheng; Gu, Kai; An, Yanzun; Ding, Xiangwei; Zhang, Feng; Cui, Chang; Chen, Minglong

Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation

病例报告:KCNH2基因中罕见的单核苷酸变异与药物引起的QT间期延长相关

Wang, Tianci; Norgan Radler, Charlene R; Sathyamoorthy, Mohanakrishnan

Long QT interval syndrome type 2 caused by a new missense mutation of KCNH2 gene: A case report

由KCNH2基因新错义突变引起的2型长QT间期综合征:病例报告

Ma, Yixiang; Wang, Li; Wu, Shuqi; Peng, Chang

Channelopathy linking KCNH2 mutation and primary aldosteronism: a case of life-threatening torsades de pointes

KCNH2 基因突变与原发性醛固酮增多症相关的离子通道病:一例危及生命的尖端扭转型室性心动过速

Dejprapasorn, Saran; Limumpornpetch, Sunti; Lohawijarn, Watchara; Choochuen, Pongsakorn; Chaochankit, Wongsakorn; Limumpornpetch, Padiporn

Novel KCNH2 and SLC4A3 variants in short QT syndrome: Clinical phenotypes and antiarrhythmic drug response

短QT综合征中新型KCNH2和SLC4A3变异:临床表型和抗心律失常药物反应

Fukue, Noriko; Ueyama, Takeshi; Ohno, Seiko; Kanemoto, Masashi; Kato, Koichi; Akase, Hideaki; Okuda, Shinichi; Nakao, Fumiaki; Ikeda, Yasuhiro

AAV9-mediated KCNH2 suppression-replacement gene therapy in a transgenic rabbit model of type 1 short QT syndrome

在1型短QT综合征转基因兔模型中,AAV9介导的KCNH2抑制替代基因疗法

Nimani, Saranda; Bains, Sahej; Alerni, Nicolò; Ördög, Balázs; Horváth, András; Matas, Lluis; Louradour, Julien; Giammarino, Lucilla; Tester, David J; Beslac, Olgica; Lopez, Ruben; Meier, Stefan; Egle, Manuel; Christoforou, Nicolas; Barbieri, Miriam; Vashanthakumar, Varjany; Perez-Feliz, Stefanie; Parodi, Chiara; Garcia Casalta, Luisana G; Kim, C S John; Zhou, Wei; Ye, Dan; Jurgensen, Jacqulyn; Barry, Michael A; Bego, Mariana; Keyes, Lisa; Owens, Jane; Pinkstaff, Jason; Christoph, Jan; Zehender, Manfred; Brunner, Michael; Heijman, Jordi; Casoni, Daniela; Praz, Fabien; Haeberlin, Andreas; Brooks, Gabriel; Ackerman, Michael J; Odening, Katja E

Calibrated Functional Data Decrease Clinical Uncertainty for KCNH2-Related Long-QT Syndrome

校准后的功能数据可降低KCNH2相关长QT间期综合征的临床诊断不确定性

Ng, Chai-Ann; O'Neill, Matthew J; Padigepati, Samskruthi R; Ting, Yi-Lee; Facio, Flavia M; Vatta, Matteo; Poll, Sarah R; Reuter, Jason A; Vandenberg, Jamie I; Kroncke, Brett M