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缝隙连接在遗传性人类疾病中的作用。

Gap junctions in inherited human disease.

机构信息

Department of Neuroanatomy and Molecular Brain Research, Ruhr University Bochum, University Street 150, Bochum, 44801, Germany.

出版信息

Pflugers Arch. 2010 Jul;460(2):451-66. doi: 10.1007/s00424-010-0789-1. Epub 2010 Feb 7.

DOI:10.1007/s00424-010-0789-1
PMID:20140684
Abstract

Gap junctions (GJ) provide direct intercellular communication. The structures underlying these cell junctions are membrane-associated channels composed of six integral membrane connexin (Cx) proteins, which can form communicating channels connecting the cytoplasms of adjacent cells. This provides coupled cells with a direct pathway for sharing ions, nutrients, or small metabolites to establish electrical coupling or balancing metabolites in various tissues. Genetic approaches have uncovered a still growing number of mutations in Cxs related to human diseases including deafness, skin disease, peripheral and central neuropathies, cataracts, or cardiovascular dysfunctions. The discovery of a growing number of inherited human disorders provides an unequivocal demonstration that gap junctional communication is crucial for diverse physiological processes.

摘要

缝隙连接 (GJ) 提供直接的细胞间通讯。这些细胞连接的结构基础是由六个整合膜连接蛋白 (Cx) 组成的膜相关通道,它们可以形成连接相邻细胞细胞质的通讯通道。这为偶联细胞提供了共享离子、营养物质或小分子代谢物的直接途径,以建立电偶联或平衡各种组织中的代谢物。遗传方法已经发现了越来越多与人类疾病相关的 Cx 基因突变,包括耳聋、皮肤病、周围和中枢神经病变、白内障或心血管功能障碍。越来越多遗传性人类疾病的发现明确证明了缝隙连接通讯对于各种生理过程至关重要。

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1
Gap junctions in inherited human disease.缝隙连接在遗传性人类疾病中的作用。
Pflugers Arch. 2010 Jul;460(2):451-66. doi: 10.1007/s00424-010-0789-1. Epub 2010 Feb 7.
2
[The role of intercellular communication via "gap junctions" in disease].[通过“间隙连接”进行细胞间通讯在疾病中的作用]
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3
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本文引用的文献

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Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea.连接蛋白30基因敲除小鼠和条件性连接蛋白26基因敲除小鼠在耳蜗中表现出不同的细胞变性模式和时间进程。
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Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method.使用颊细胞和限制性片段长度多态性方法鉴定非综合征性听力损失患者Cx29基因中的新型变异。
Audiol Neurootol. 2010;15(2):81-7. doi: 10.1159/000231633. Epub 2009 Aug 4.
3
Unique expression of connexins in the human cochlea.
哇巴因通过诱导前列腺素 E2 的旁分泌分泌增强缝隙连接细胞间通讯。
Int J Mol Sci. 2021 Jun 10;22(12):6244. doi: 10.3390/ijms22126244.
4
Involvement of gap junctions in propylthiouracil-induced cytotoxicity in BRL-3A cells.缝隙连接参与丙硫氧嘧啶诱导的BRL-3A细胞毒性作用。
Exp Ther Med. 2019 Apr;17(4):2799-2806. doi: 10.3892/etm.2019.7244. Epub 2019 Feb 6.
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A Cell-Based Assay to Assess Hemichannel Function.一种基于细胞的检测半通道功能的方法。
Yale J Biol Med. 2017 Mar 29;90(1):87-95. eCollection 2017 Mar.
6
Evolution of Microbial Quorum Sensing to Human Global Quorum Sensing: An Insight into How Gap Junctional Intercellular Communication Might Be Linked to the Global Metabolic Disease Crisis.微生物群体感应向人类全球群体感应的演变:缝隙连接细胞间通讯如何与全球代谢疾病危机相关联的新视角。
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Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations.对经连接蛋白26基因(GJB2)突变基因分型的听力损失患者的心电图参数评估。
Braz J Otorhinolaryngol. 2017 Mar-Apr;83(2):176-182. doi: 10.1016/j.bjorl.2016.02.008. Epub 2016 Apr 22.
8
Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.与耳聋相关的两个新发现的连接蛋白26突变体的间隙连接通道和半通道活性
Pflugers Arch. 2016 May;468(5):909-18. doi: 10.1007/s00424-016-1788-7. Epub 2016 Jan 14.
9
Gold nanoparticle-mediated (GNOME) laser perforation: a new method for a high-throughput analysis of gap junction intercellular coupling.金纳米颗粒介导的(GNOME)激光穿孔:一种用于高通量分析间隙连接细胞间偶联的新方法。
J Bioenerg Biomembr. 2015 Oct;47(5):441-9. doi: 10.1007/s10863-015-9623-y. Epub 2015 Aug 27.
10
Long-range gap junctional signaling controls oncogene-mediated tumorigenesis in Xenopus laevis embryos.长程缝隙连接信号控制非洲爪蟾胚胎中致癌基因介导的肿瘤发生。
Front Physiol. 2015 Jan 19;5:519. doi: 10.3389/fphys.2014.00519. eCollection 2014.
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4
Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice.肢体芽间充质中连接蛋白43介导的缝隙连接偶联的丧失会导致小鼠中形态发生素的表达改变。
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