• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

长 QT 综合征变异导致患者特异性诱导多能干细胞衍生心肌细胞中 hERG1a/1b 亚基失衡。

Long QT Syndrome Variant Induces hERG1a/1b Subunit Imbalance in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

机构信息

Cellular and Molecular Arrhythmia Research Program, Division of Cardiovascular Medicine, Department of Medicine (L.F., J.Z., G.K., E.L., C.L.A., K.M.O., L.L.E., C.T.J., T.J.K.), University of Wisconsin-Madison.

Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, National Clinical Research Center for Cardiovascular Diseases, China (L.F.).

出版信息

Circ Arrhythm Electrophysiol. 2021 Apr;14(4):e009343. doi: 10.1161/CIRCEP.120.009343. Epub 2021 Mar 17.

DOI:10.1161/CIRCEP.120.009343
PMID:33729832
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8058932/
Abstract

[Figure: see text].

摘要

[图:见正文]。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/4c85b2a8845f/nihms-1684993-f0008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/323305a1c63f/nihms-1684993-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/d9b98d18b223/nihms-1684993-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/e2d04c9175bc/nihms-1684993-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/9aeb83251f68/nihms-1684993-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/744e7b545875/nihms-1684993-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/606310a90461/nihms-1684993-f0006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/7070f19f7845/nihms-1684993-f0007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/4c85b2a8845f/nihms-1684993-f0008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/323305a1c63f/nihms-1684993-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/d9b98d18b223/nihms-1684993-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/e2d04c9175bc/nihms-1684993-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/9aeb83251f68/nihms-1684993-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/744e7b545875/nihms-1684993-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/606310a90461/nihms-1684993-f0006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/7070f19f7845/nihms-1684993-f0007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bdc/8058932/4c85b2a8845f/nihms-1684993-f0008.jpg

相似文献

1
Long QT Syndrome Variant Induces hERG1a/1b Subunit Imbalance in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes.长 QT 综合征变异导致患者特异性诱导多能干细胞衍生心肌细胞中 hERG1a/1b 亚基失衡。
Circ Arrhythm Electrophysiol. 2021 Apr;14(4):e009343. doi: 10.1161/CIRCEP.120.009343. Epub 2021 Mar 17.
2
Tbx20 controls the expression of the KCNH2 gene and of hERG channels.Tbx20控制KCNH2基因和hERG通道的表达。
Proc Natl Acad Sci U S A. 2017 Jan 17;114(3):E416-E425. doi: 10.1073/pnas.1612383114. Epub 2017 Jan 3.
3
Mouse ERG K(+) channel clones reveal differences in protein trafficking and function.小鼠视网膜电图K(+)通道克隆揭示了蛋白质运输和功能上的差异。
J Am Heart Assoc. 2014 Dec 11;3(6):e001491. doi: 10.1161/JAHA.114.001491.
4
Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.同基因人多能干细胞对揭示 KCNH2 突变在长 QT 综合征中的作用。
EMBO J. 2013 Dec 11;32(24):3161-75. doi: 10.1038/emboj.2013.240. Epub 2013 Nov 8.
5
Modelling the long QT syndrome with induced pluripotent stem cells.利用诱导多能干细胞构建长 QT 综合征模型。
Nature. 2011 Mar 10;471(7337):225-9. doi: 10.1038/nature09747. Epub 2011 Jan 16.
6
Promise and Potential Peril With Lumacaftor for the Trafficking Defective Type 2 Long-QT Syndrome-Causative Variants, p.G604S, p.N633S, and p.R685P, Using Patient-Specific Re-Engineered Cardiomyocytes.使用患者特异性再工程心肌细胞研究 Lumacaftor 对转运缺陷型 2 型长 QT 综合征致病变异 p.G604S、p.N633S 和 p.R685P 的潜在风险和获益。
Circ Genom Precis Med. 2020 Oct;13(5):466-475. doi: 10.1161/CIRCGEN.120.002950. Epub 2020 Sep 17.
7
Eag Domains Regulate LQT Mutant hERG Channels in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.Eag结构域在人诱导多能干细胞衍生的心肌细胞中调节长QT综合征突变型hERG通道
PLoS One. 2015 Apr 29;10(4):e0123951. doi: 10.1371/journal.pone.0123951. eCollection 2015.
8
Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.在杂合子患者来源的 iPSC 心肌细胞中,KCNH2 的 c.453delC 移码突变导致功能性 hERG K+ 通道的翻译重新起始,具有轻微的显性负效应。
Hum Mol Genet. 2024 Jan 7;33(2):110-121. doi: 10.1093/hmg/ddad165.
9
Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine-Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome.迈向个性化医疗:利用从尿液衍生的多能干细胞分化而来的心肌细胞来重现2型长QT综合征的电生理特征。
J Am Heart Assoc. 2015 Sep 1;4(9):e002159. doi: 10.1161/JAHA.115.002159.
10
hERG1a N-terminal eag domain-containing polypeptides regulate homomeric hERG1b and heteromeric hERG1a/hERG1b channels: a possible mechanism for long QT syndrome.hERG1a N 端 eag 结构域包含多肽调节同源 hERG1b 和异源 hERG1a/hERG1b 通道:长 QT 综合征的一种可能机制。
J Gen Physiol. 2011 Dec;138(6):581-92. doi: 10.1085/jgp.201110683.

引用本文的文献

1
Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical Applications.先天性长QT综合征中的诱导多能干细胞:研究进展与临床应用
Rev Cardiovasc Med. 2025 Apr 22;26(4):28251. doi: 10.31083/RCM28251. eCollection 2025 Apr.
2
Revealing a hidden conducting state by manipulating the intracellular domains in K10.1 exposes the coupling between two gating mechanisms.通过操纵 K10.1 中的细胞内结构域来揭示隐藏的传导状态,揭示了两种门控机制之间的耦合。
Elife. 2024 Sep 11;12:RP91420. doi: 10.7554/eLife.91420.
3
Stem cell models of inherited arrhythmias.

本文引用的文献

1
Single-molecule RNA Fluorescence Hybridization (smFISH) in .单分子RNA荧光杂交(smFISH)于……中
Bio Protoc. 2017 Jun 20;7(12):e2357. doi: 10.21769/BioProtoc.2357.
2
R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.hERG 中的 R534C 突变导致 2 型长 QT 综合征患者来源的 iPSC 衍生心肌细胞的转运缺陷。
Sci Rep. 2019 Dec 16;9(1):19203. doi: 10.1038/s41598-019-55837-w.
3
Dynamics of Notch-Dependent Transcriptional Bursting in Its Native Context.在其天然环境中 Notch 依赖性转录爆发的动力学。
遗传性心律失常的干细胞模型。
Nat Cardiovasc Res. 2024 Apr;3(4):420-430. doi: 10.1038/s44161-024-00451-x. Epub 2024 Mar 21.
4
Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome.队列、基因型、变异、母亲β受体阻滞剂治疗对遗传性长 QT 综合征胎儿心率预测指标的影响。
Europace. 2023 Nov 2;25(11). doi: 10.1093/europace/euad319.
5
Zebrafish cardiac repolarization does not functionally depend on the expression of the hERG1b-like transcript.斑马鱼心脏复极化功能不依赖于 hERG1b 样转录本的表达。
Pflugers Arch. 2024 Jan;476(1):87-99. doi: 10.1007/s00424-023-02875-z. Epub 2023 Nov 7.
6
Targeted activation of human ether-à-go-go-related gene channels rescues electrical instability induced by the R56Q+/- long QT syndrome variant.靶向激活人 ether-à-go-go 相关基因通道可挽救 R56Q +/- 长 QT 综合征变异引起的电不稳定性。
Cardiovasc Res. 2023 Nov 25;119(15):2522-2535. doi: 10.1093/cvr/cvad155.
7
High-throughput longitudinal electrophysiology screening of mature chamber-specific hiPSC-CMs using optical mapping.使用光学映射对成熟的特定腔室人诱导多能干细胞衍生心肌细胞进行高通量纵向电生理学筛选。
iScience. 2023 Jun 15;26(7):107142. doi: 10.1016/j.isci.2023.107142. eCollection 2023 Jul 21.
8
Human induced pluripotent stem cell-derived cardiomyocytes as an electrophysiological model: Opportunities and challenges-The Hamburg perspective.人诱导多能干细胞衍生的心肌细胞作为一种电生理模型:机遇与挑战——汉堡视角
Front Physiol. 2023 Feb 16;14:1132165. doi: 10.3389/fphys.2023.1132165. eCollection 2023.
9
A need for exhaustive and standardized characterization of ion channels activity. The case of K11.1.对离子通道活性进行详尽且标准化表征的必要性。以K11.1为例。
Front Physiol. 2023 Feb 13;14:1132533. doi: 10.3389/fphys.2023.1132533. eCollection 2023.
10
Challenges and innovation: Disease modeling using human-induced pluripotent stem cell-derived cardiomyocytes.挑战与创新:利用人诱导多能干细胞衍生的心肌细胞进行疾病建模
Front Cardiovasc Med. 2022 Aug 12;9:966094. doi: 10.3389/fcvm.2022.966094. eCollection 2022.
Dev Cell. 2019 Aug 19;50(4):426-435.e4. doi: 10.1016/j.devcel.2019.07.001. Epub 2019 Aug 1.
4
Genome Editing of Induced Pluripotent Stem Cells to Decipher Cardiac Channelopathy Variant.诱导多能干细胞的基因组编辑以解析心脏通道病变体。
J Am Coll Cardiol. 2018 Jul 3;72(1):62-75. doi: 10.1016/j.jacc.2018.04.041.
5
hERG1a and hERG1b potassium channel subunits directly interact and preferentially form heteromeric channels.hERG1a 和 hERG1b 钾通道亚基直接相互作用,并且优先形成异源二聚体通道。
J Biol Chem. 2017 Dec 29;292(52):21548-21557. doi: 10.1074/jbc.M117.816488. Epub 2017 Oct 31.
6
Post-Translational Dosage Compensation Buffers Genetic Perturbations to Stoichiometry of Protein Complexes.翻译后剂量补偿缓冲了蛋白质复合物化学计量学的遗传扰动。
PLoS Genet. 2017 Jan 25;13(1):e1006554. doi: 10.1371/journal.pgen.1006554. eCollection 2017 Jan.
7
Molecular pathogenesis of long QT syndrome type 2.2型长QT综合征的分子发病机制
J Arrhythm. 2016 Oct;32(5):373-380. doi: 10.1016/j.joa.2015.11.009. Epub 2016 Jan 22.
8
Kinetic Analysis of Protein Stability Reveals Age-Dependent Degradation.蛋白质稳定性的动力学分析揭示了与年龄相关的降解。
Cell. 2016 Oct 20;167(3):803-815.e21. doi: 10.1016/j.cell.2016.09.015. Epub 2016 Oct 6.
9
GLP-1/Notch activates transcription in a probability gradient across the germline stem cell pool.GLP-1/Notch在整个生殖系干细胞库中以概率梯度激活转录。
Elife. 2016 Oct 5;5:e18370. doi: 10.7554/eLife.18370.
10
Evaluation of off-target and on-target scoring algorithms and integration into the guide RNA selection tool CRISPOR.脱靶和靶向评分算法的评估及其整合到引导RNA选择工具CRISPOR中。
Genome Biol. 2016 Jul 5;17(1):148. doi: 10.1186/s13059-016-1012-2.