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瞬时受体电位通道病。

Transient receptor potential channelopathies.

机构信息

Laboratory Ion Channel Research, Department of Molecular Cell Biology, KU Leuven, Campus Gasthuisberg, Herestraat 49, bus 802, Leuven, Belgium.

出版信息

Pflugers Arch. 2010 Jul;460(2):437-50. doi: 10.1007/s00424-010-0788-2. Epub 2010 Feb 4.

DOI:10.1007/s00424-010-0788-2
PMID:20127491
Abstract

In the past years, several hereditary diseases caused by defects in transient receptor potential channels (TRP) genes have been described. This review summarizes our current knowledge about TRP channelopathies and their possible pathomechanisms. Based on available genetic indications, we will also describe several putative pathological conditions in which (mal)function of TRP channels could be anticipated.

摘要

在过去的几年中,已经描述了几种由瞬时受体电位通道 (TRP) 基因缺陷引起的遗传性疾病。这篇综述总结了我们目前对 TRP 通道病及其可能的发病机制的了解。根据现有遗传证据,我们还将描述几种可能的病理情况,其中可以预期 TRP 通道的(异常)功能。

相似文献

1
Transient receptor potential channelopathies.瞬时受体电位通道病。
Pflugers Arch. 2010 Jul;460(2):437-50. doi: 10.1007/s00424-010-0788-2. Epub 2010 Feb 4.
2
TRP channels.TRP 通道。
Compr Physiol. 2012 Jan;2(1):563-608. doi: 10.1002/cphy.c110026.
3
Transient receptor potential cation channels in disease.疾病中的瞬时受体电位阳离子通道
Physiol Rev. 2007 Jan;87(1):165-217. doi: 10.1152/physrev.00021.2006.
4
TRP channels in disease.疾病中的瞬时受体电位通道
Sci STKE. 2005 Aug 2;2005(295):re8. doi: 10.1126/stke.2952005re8.
5
TRP channels in disease.疾病中的瞬时受体电位通道
Biochim Biophys Acta. 2007 Aug;1772(8):805-12. doi: 10.1016/j.bbadis.2007.02.002. Epub 2007 Feb 12.
6
[Human pain channelopathies].[人类疼痛通道病]
Med Sci (Paris). 2010 Dec;26(12):1015-7. doi: 10.1051/medsci/201026121015.
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TRPpathies.瞬时受体电位通道病
J Physiol. 2007 Feb 1;578(Pt 3):641-53. doi: 10.1113/jphysiol.2006.119024. Epub 2006 Nov 30.
8
TRP channels and mice deficient in TRP channels.瞬时受体电位(TRP)通道及缺乏TRP通道的小鼠
Pflugers Arch. 2005 Oct;451(1):11-8. doi: 10.1007/s00424-005-1429-z. Epub 2005 Aug 3.
9
TRP channels as target sites for insecticides: physiology, pharmacology and toxicology.作为杀虫剂靶位点的瞬时受体电位通道:生理学、药理学与毒理学
Invert Neurosci. 2007 Mar;7(1):31-7. doi: 10.1007/s10158-007-0044-4. Epub 2007 Feb 7.
10
TRP channels: a TR(I)P through a world of multifunctional cation channels.瞬时受体电位通道:穿越多功能阳离子通道世界的一次TR(I)P之旅
Pflugers Arch. 2005 Oct;451(1):1-10. doi: 10.1007/s00424-005-1462-y. Epub 2005 Jul 13.

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bioRxiv. 2025 Aug 27:2025.08.27.671753. doi: 10.1101/2025.08.27.671753.
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Disease-associated missense mutations in the pore loop of polycystin-2 alter its ion channel function in a heterologous expression system.多囊蛋白-2 孔环中的疾病相关错义突变改变了其在异源表达系统中的离子通道功能。
J Biol Chem. 2024 Aug;300(8):107574. doi: 10.1016/j.jbc.2024.107574. Epub 2024 Jul 14.
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Thermosensitive TRP Channels Are Functionally Expressed and Influence the Lipogenesis in Human Meibomian Gland Cells.

本文引用的文献

1
Channelopathies converge on TRPV4.通道病集中在 TRPV4 上。
Nat Genet. 2010 Feb;42(2):98-100. doi: 10.1038/ng0210-98.
2
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.ANK 结构域改变导致先天性远端 SMA、肩胛腓骨肌萎缩症 2C 型和 HMSN。
Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.
3
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.肩胛腓骨肌萎缩症和 CMT2C 是由 TRPV4 改变引起的等位基因疾病。
热敏型瞬时受体电位通道在人眼睑板腺细胞中功能性表达并影响其脂生成。
Int J Mol Sci. 2024 Apr 5;25(7):4043. doi: 10.3390/ijms25074043.
4
Sustained Retinal Defocus Increases the Effect of Induced Myopia on the Retinal Astrocyte Template.持续视网膜离焦增加诱导性近视对视网膜星形胶质细胞模板的影响。
Cells. 2024 Mar 29;13(7):595. doi: 10.3390/cells13070595.
5
Pathophysiological Roles of the TRPV4 Channel in the Heart.TRPV4 通道在心脏中的病理生理作用。
Cells. 2023 Jun 17;12(12):1654. doi: 10.3390/cells12121654.
6
"ThermoTRP" Channel Expression in Cancers: Implications for Diagnosis and Prognosis (Practical Approach by a Pathologist).“热敏感型瞬时受体电位”(ThermoTRP)通道在癌症中的表达:对诊断和预后的影响(病理学家的实用方法)。
Int J Mol Sci. 2023 May 22;24(10):9098. doi: 10.3390/ijms24109098.
7
Molecular mechanism of hyperactivation conferred by a truncation of TRPA1.TRPA1 截断导致超激活的分子机制。
Nat Commun. 2023 May 19;14(1):2867. doi: 10.1038/s41467-023-38542-1.
8
α1-Adrenergic Stimulation Increases Platelet Adhesion to Endothelial Cells Mediated by TRPC6.α1肾上腺素能刺激通过TRPC6增加血小板与内皮细胞的黏附。
Adv Exp Med Biol. 2023;1408:65-82. doi: 10.1007/978-3-031-26163-3_4.
9
Cost-Effective Pipeline for a Rational Design and Selection of Capsaicin Analogues Targeting TRPV1 Channels.用于合理设计和筛选靶向TRPV1通道的辣椒素类似物的经济高效流程。
ACS Omega. 2023 Mar 24;8(13):11736-11749. doi: 10.1021/acsomega.2c05672. eCollection 2023 Apr 4.
10
Unconventional interactions of the TRPV4 ion channel with beta-adrenergic receptor ligands.TRPV4 离子通道与β-肾上腺素能受体配体的非常规相互作用。
Life Sci Alliance. 2022 Dec 22;6(3). doi: 10.26508/lsa.202201704. Print 2023 Mar.
Nat Genet. 2010 Feb;42(2):165-9. doi: 10.1038/ng.509. Epub 2009 Dec 27.
4
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.TRPV4 基因突变导致 2C 型腓骨肌萎缩症。
Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27.
5
A novel TRPC6 mutation that causes childhood FSGS.一个导致儿童局灶节段性肾小球硬化症的新型 TRPC6 突变。
PLoS One. 2009 Nov 10;4(11):e7771. doi: 10.1371/journal.pone.0007771.
6
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.在常染色体隐性完全先天性静止性夜盲症患者中,瞬时受体电位阳离子通道亚家族M成员1(TRPM1)发生了突变。
Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5.
7
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.瞬时受体电位阳离子通道亚家族M成员1(TRPM1)的突变是完全性先天性静止性夜盲的常见病因。
Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5.
8
Functional multimerization of mucolipin channel proteins.黏脂贮积症通道蛋白的功能性多聚化
J Cell Physiol. 2010 Feb;222(2):328-35. doi: 10.1002/jcp.21956.
9
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.基因TRPM1的隐性突变会消除ON双极细胞的功能,并导致人类完全性先天性静止性夜盲。
Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29.
10
TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells.TRPM1 在视网膜 ON-双极细胞的去极化光反应中是必需的。
Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19174-8. doi: 10.1073/pnas.0908711106. Epub 2009 Oct 27.