• 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

相似文献

1
Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?连接个体与群体的兴奋性疾病:罕见病研究能否从单基因通道病中得出具有普遍适用性的机制?
Function (Oxf). 2022 Jan 4;3(1):zqab072. doi: 10.1093/function/zqab072. eCollection 2022.
2
Neurological channelopathies.神经通道病。
Annu Rev Neurosci. 2010;33:151-72. doi: 10.1146/annurev-neuro-060909-153122.
3
Hereditary channelopathies in neurology.遗传性通道病学在神经病学中的应用。
Adv Exp Med Biol. 2010;686:305-34. doi: 10.1007/978-90-481-9485-8_18.
4
Pain channelopathies.疼痛通道病。
J Physiol. 2010 Jun 1;588(Pt 11):1897-904. doi: 10.1113/jphysiol.2010.187807. Epub 2010 Feb 8.
5
Channelopathies in fragile X syndrome.脆性 X 综合征中的通道病。
Nat Rev Neurosci. 2021 May;22(5):275-289. doi: 10.1038/s41583-021-00445-9. Epub 2021 Apr 7.
6
Calcium channelopathies in inherited neurological disorders: relevance to drug screening for acquired channel disorders.遗传性神经疾病中的钙通道病:与获得性通道疾病药物筛选的相关性。
IDrugs. 2010 Jul;13(7):467-71.
7
Genetic neurological channelopathies: molecular genetics and clinical phenotypes.遗传性神经通道病:分子遗传学与临床表型
J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):37-48. doi: 10.1136/jnnp-2015-311233. Epub 2015 Nov 11.
8
Neuronal Cav3 channelopathies: recent progress and perspectives.神经元 Cav3 通道病:最新进展与展望。
Pflugers Arch. 2020 Jul;472(7):831-844. doi: 10.1007/s00424-020-02429-7. Epub 2020 Jul 7.
9
COVID-19 pandemia and inherited cardiomyopathies and channelopathies: a short term and long term perspective.COVID-19 大流行与遗传性心肌病和离子通道病:短期和长期视角。
Orphanet J Rare Dis. 2020 Jun 22;15(1):157. doi: 10.1186/s13023-020-01444-2.
10
Altered neuronal excitability in a Hodgkin-Huxley model incorporating channelopathies of the delayed rectifier potassium channel.在包含延迟整流钾通道通道病的 Hodgkin-Huxley 模型中改变神经元兴奋性。
J Comput Neurosci. 2020 Nov;48(4):377-386. doi: 10.1007/s10827-020-00766-1. Epub 2020 Oct 15.

本文引用的文献

1
The epilepsy-autism spectrum disorder phenotype in the era of molecular genetics and precision therapy.分子遗传学与精准治疗时代的癫痫-自闭症谱系障碍表型
Epilepsia. 2022 Jan;63(1):6-21. doi: 10.1111/epi.17115. Epub 2021 Nov 6.
2
Ion channels as convergence points in the pathology of pulmonary arterial hypertension.离子通道作为肺动脉高压病理的汇聚点。
Biochem Soc Trans. 2021 Aug 27;49(4):1855-1865. doi: 10.1042/BST20210538.
3
Voltage-Gated Calcium Channels in Nonexcitable Tissues.非兴奋性组织中的电压门控钙通道
Annu Rev Physiol. 2021 Feb 10;83:183-203. doi: 10.1146/annurev-physiol-031620-091043. Epub 2020 Oct 26.
4
The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome.坎图综合征中钾通道功能获得导致高输出量心脏肥大的机制
Function (Oxf). 2020;1(1):zqaa004. doi: 10.1093/function/zqaa004. Epub 2020 Jun 18.
5
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.“电畸形学”:致畸形综合征的钾通道病。
Adv Genet. 2020;105:137-174. doi: 10.1016/bs.adgen.2020.03.002. Epub 2020 May 26.
6
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.一项国际性、多中心、基于证据的对报道引起先天性长 QT 综合征的基因的重新评估。
Circulation. 2020 Feb 11;141(6):418-428. doi: 10.1161/CIRCULATIONAHA.119.043132. Epub 2020 Jan 27.
7
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.坎图综合征:国际坎图综合征注册研究中 74 例患者的发现。
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):658-681. doi: 10.1002/ajmg.c.31753.
8
Single gene disorders or complex traits: lessons from the thalassaemias and other monogenic diseases.单基因疾病或复杂性状:地中海贫血及其他单基因疾病的启示
BMJ. 2000 Nov 4;321(7269):1117-20. doi: 10.1136/bmj.321.7269.1117.

Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?

作者信息

Nichols Colin G, McClenaghan Conor

机构信息

Center for the Investigation of Membrane Excitability Diseases, and Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.

出版信息

Function (Oxf). 2022 Jan 4;3(1):zqab072. doi: 10.1093/function/zqab072. eCollection 2022.

DOI:10.1093/function/zqab072
PMID:35402918
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8991026/
Abstract
摘要