首页> 外文OA文献 >Spectrum and Prevalence of CALM1 -, CALM2 -, and CALM3 -Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141G

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Spectrum and Prevalence of CALM1 -, CALM2 -, and CALM3 -Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141G

机译：QT综合征长期QT综合征和肝细胞癌的平静综合征和钙调蛋白变异的光谱和患病率。新型长QT综合征相关钙调蛋白畸变变种，E141G

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Nicole J. Boczek; Nieves Gomez-Hurtado; Dan Ye; Melissa L. Calvert; David J. Tester; Dmytro O. Kryshtal; Hyun Seok Hwang; Christopher N. Johnson; Walter J. Chazin; Christina G. Loporcaro; Maully Shah; Andrew L. Papez; Yung R. Lau; Ronald Kanter; Björn C. Knollmann; Michael J. Ackerman;
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1. Characterization of the human CALM2 calmodulin gene and comparison of the transcriptional activity of CALM1, CALM2 and CALM3. [J] . Toutenhoofd SL, Foletti D, Wicki R, Cell Calcium: The International Interdisciplinary Forum for Research on Calcium . 1998,第5期

机译：人类CALM2钙调蛋白基因的特征以及CALM1，CALM2和CALM3转录活性的比较。
2. The LQT-associated calmodulin mutant E141G induces disturbed Ca~2+-dependent binding and a flickering gating mode of the Ca_v1.2 channel. [J] . Su J, Gao Q, Yu L, American Journal of Physiology . 2020,第5Pta1期

机译：LQT相关的钙调蛋白突变体E141G诱导干扰的Ca〜2 +依赖性结合和CA_V1.2通道的闪烁浇注模式。
3. Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote [J] . Fujii Yusuke, Matsumoto Yuichi, Hayashi Kenshi, Journal of cardiology . 2017,第1a2期

机译：KCNH2变体在基因分型Long Qt综合征中的贡献：双重突变下的Romano-Dran综合征，杂合子术中的长QT综合征
4. Computational Analysis of the Action of Chloroquine on Short QT Syndrome Variant 1 and Variant 3 in Human Ventricles [C] . Cunjin Luo, Kuanquan Wang, Tong Liu, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2018

机译：计算分析氯喹对人心室短QT综合征变异1和变异3的作用
5. Functional analysis of hERG potassium channels and mutations underlying the Long QT Syndrome. [D] . Saenen, Johan B. 2007

机译：hERG钾通道和长QT综合征基础突变的功能分析。
6. Spectrum and Prevalence of CALM1- CALM2- and CALM3-Encoded Calmodulin (CaM) Variants in Long QT Syndrome (LQTS) and Functional Characterization of a Novel LQTS-Associated CaM Missense Variant E141G [O] . Nicole J. Boczek, Nieves Gomez-Hurtado, Dan Ye, -1

机译：长QT综合征（LQTS）中的CALM1CALM2和CALM3编码钙调蛋白（CaM）变体的光谱和患病率以及新型LQTS相关的CaM错义变体E141G的功能表征
7. Response to Letter Regarding Articles, “Prevalence of Long QT Syndrome Gene Variants in Sudden Infant Death Syndrome,” “Cardiac Sodium Channel Dysfunction in Sudden Infant Death Syndrome,” and “Contribution of Long-QT Syndrome Genes to Sudden Infant Death Syndrome: Is It Time to Consider Newborn Electrocardiographic Screening?” [O] . Peter J. Schwartz, Alfred L. George 2007

机译：回应关于文章的信，“长Qt综合征基因变异突发婴儿死亡综合征的患病率”，“突发性婴儿死亡综合征的心脏钠通道功能障碍”和“长QT综合征基因对突发婴儿死亡综合征的贡献：是是时候考虑新生儿心电图筛查？“

Spectrum and Prevalence of CALM1 -, CALM2 -, and CALM3 -Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141G

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