The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.
作者:
关键词
APDAPD at 90 repolarizationAPD90Action potential durationArrhythmiasChannelopathyCyclic DNADNADeoxyribonucleic acidECGESPElectrocardiogramExome Sequencing ProjectHEK293Human ether-à-go-go related channelHuman ether-à-go-go related geneHuman-derived renal epithelial cell line number 293IKrLQTSLong QT syndromeMessenger RNAMutationPAS domainPer-Arnt-Sim domain in the N-terminal branch of the hERG proteinQTQTcRNARRRibonucleic acidSCDSDSSEMSIDSSSCPSingle-strand conformational polymorphismSodium dodecyl-sulfateStandard error of the meanSudden cardiac deathSudden deathSudden infant death syndromeTNNPTdPTen Tusscher, Noble, Noble and Panfilov (2004), mathematical model of a human ventricular action potentialThe QT interval of the ECGThe RR interval of the ECGThe corrected QT interval of the ECG, using Bazett's formulaThe rapid delayed rectifier current, underlied in cardiac cells by hERGTorsade de pointesWTWild-typecDNAhERGmRNA
主题词
成年人(Adult);动物(Animals);心律失常, 心性(Arrhythmias, Cardiac);Brugada综合征(Brugada Syndrome);细胞系(Cell Line);猝死, 心脏(Death, Sudden, Cardiac);女(雌)性(Female);HEK293细胞(HEK293 Cells);心脏(Heart);心脏传导系统(Heart Conduction System);杂合子(Heterozygote);人类(Humans);婴儿(Infant);QT延长综合征(Long QT Syndrome);男(雄)性(Male);突变(Mutation);肌细胞, 心脏(Myocytes, Cardiac);孢子卵囊(Oocysts);反式激活因子类(Trans-Activators);爪蟾属(Xenopus)
DOI
10.1016/j.gene.2013.11.072
PMID
24334129
发布时间
2019-02-21
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Gene
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