云南高校图书馆联盟文献共享服务平台- CHANNELOPATHY

CHANNELOPATHY: 作品数：17被引量：32H指数：3; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：王刚史小琴陈玉敏匡延平陈涛平更多>>; 相关机构：安徽医科大学上海交通大学医学院附属第九人民医院河北大学更多>>; 相关期刊：《上海交通大学学报（医学版）》《复旦学报（医学版）》《Journal of Behavioral and Brain Science》《Acta Pharmacologica Sinica》更多>>

Both gain-and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia被引量：1: 《Journal of Genetics and Genomics》2024年第8期801-810,共10页Wan-Bing Sun Jing-Xin Fu Yu-Lan Chen Hong-Fu Li Zhi-Ying Wu Dian-Fu Chen; supported by grants from the National Natural Science Foundation of China(82101526,82171238,and 81330025)。; KCNA1 is the coding gene for Kv1.1 voltage-gated potassium-channelαsubunit.Three variants of KCNA1 have been reported to manifest as paroxysmal kinesigenic dyskinesia(PKD),but the correlation between them remains unc...; 关键词：Paroxysmal kinesigenic dyskinesia KCNA1 LOSS-OF-FUNCTION GAIN-OF-FUNCTION CHANNELOPATHY Episodicataxiatype1

Adapting the endoplasmic reticulum proteostasis rescues epilepsy-associated NMDA receptor variants被引量：1: 《Acta Pharmacologica Sinica》2024年第2期282-297,共16页Pei-pei Zhang Taylor M.Benske Lucie Y.Ahn Ashleigh E.Schaffer James C.Paton Adrienne W.Paton Ting-wei Mu Ya-juan Wang; supported by the National Institutes of Health(R01NS117176 to TWM,R01NS123524 to AES,and F30HD110088 to LYA);the Brain Research Foundation(BRFSG-2021-08 to AES).; The GRIN genes encoding N-methyl-D-aspartate receptor(NMDAR)subunits are remarkably intolerant to variation.Many pathogenic NMDAR variants result in their protein misfolding,inefficient assembly,reduced surface expres...; 关键词：NMDA receptors endoplasmic reticulum unfolded protein response PROTEOSTASIS EPILEPSY CHANNELOPATHY

Special electromyographic features in a child with paramyotonia congenita: A case report and review of literature: 《World Journal of Clinical Cases》2024年第3期587-595,共9页Hui Yi Chen-Xiang Liu Shu-Xin Ye Yu-Lin Liu; BACKGROUND Paramyotonia congenita(PMC)stands as a rare sodium channelopaty of skeletal muscle,initially identified by Eulenburg.The identification of PMC often relies on electromyography(EMG),a diagnostic technique.Th...; 关键词：Paramyotonia congenita CHANNELOPATHY ELECTROMYOGRAPHY CHILD Case report

Channelopathy of small-and intermediate-conductance Ca^(2+)-activated K^(+)channels被引量：3: 《Acta Pharmacologica Sinica》2023年第2期259-267,共9页Young-Woo Nam Myles Downey Mohammad Asikur Rahman Meng Cui Miao Zhang; supported by a Scientist Development Grant 13SDG16150007 from American Heart Association,a YI-SCA grant from National Ataxia Foundation,and a grant 4R33NS101182-03 from NIH.; Small-and intermediate-conductance Ca^(2+)-activated K^(+)(K_(Ca)2.x/K_(Ca)3.1 also called SK/IK)channels are gated exclusively by intracellular Ca^(2+).The Ca^(2+)binding protein calmodulin confers sub-micromolar Ca^...; 关键词：CHANNELOPATHY K_(Ca)2.2 channels K_(Ca)2.3 channels K_(Ca)3.1 channels Zimmermann-Laband syndrome hereditary xerocytosis

Patient-specific induced pluripotent stem cells as“disease-in-adish”models for inherited cardiomyopathies and channelopathies–15 years of research: 《World Journal of Stem Cells》2021年第4期281-303,共23页Miruna Mihaela Micheu Ana-Maria Rosca; Among inherited cardiac conditions,a special place is kept by cardiomyopathies(CMPs)and channelopathies(CNPs),which pose a substantial healthcare burden due to the complexity of the therapeutic management and cause ea...; 关键词：Induced pluripotent stem cells CARDIOMYOPATHY CHANNELOPATHY Genes Mutation Deoxyribonucleic acid variants

A pannexin 1 channelopathy causes human oocyte death: 《上海交通大学学报（医学版）》2019年第5期444-445,共2页匡延平; Connexins and pannexins are two protein families that play an important role in cellular communication. Pannexin 1 (PANX1), one of the members of pannexin family, is a channel protein. It is glycosylated and forms thr...; 关键词：CELLULAR COMMUNICATION PANNEXIN 1 (PANX1) GLY0

复旦大学生命科学学院桑庆、王磊研究团队合作研究首次发现并命名人类新遗传疾病“卵子死亡”: 《复旦学报（医学版）》2019年第2期173-173,共1页复旦大学新闻文化网; 复旦大学生命科学学院、遗传工程国家重点实验室桑庆副研究员和王磊教授团队与上海交通大学医学院附属第九人民医院生殖中心匡延平教授团队合作研究首次发现了一种新的人类遗传病,将其命名为“卵子死亡”。该研究明确了疾病的致病基因...; 关键词：生命科学学院人类遗传病遗传疾病复旦大学团队合作 CHANNELOPATHY 卵子死亡

Highlights for the 6th International Ion Channel Conference:ion channel structure,function,disease and therapeutics被引量：3: 《Acta Pharmaceutica Sinica B》2017年第6期665-669,共5页Limei Wang Kewei Wang; To foster communication and interactions amongst international scholars and scientists in the field of ion channel research, the 6 th International Ion Channel Conference(IICC-2017) was held between June 23–27, 2017 ...; 关键词：Ion channel STRUCTURE FUNCTION CHANNELOPATHY Drug target MECHANOTRANSDUCTION Voltage-gated Ca2+ channel Anoctamin-1 Calcium activated chloride channel M-type potassium channel GIRK channel Voltage-gated sodium channel

Structure-based assessment of disease- related mutations in human voltage-gated sodium channels被引量：8: 《Protein & Cell》2017年第6期401-438,共38页Weiyun Huang Minhao Liu S. Frank Yan Nieng Yan; Voltage-gated sodium （Nav） channels are essential for the rapid upstroke of action potentials and the propa- gation of electrical signals in nerves and muscles. Defects of Nav channels are associated with a variety ...; 关键词：Nav channels CHANNELOPATHY Navl.7 structure modeling PAIN

Syncope and Early Repolarization:A Benign or Dangerous ECG Finding?: 《Cardiovascular Innovations and Applications》2016年第B02期179-186,共8页Matthew McKillop,MD,FACC,FHRS William M.Miles,MD,FACC,FHRS; Early repolarization is a well-described,common electrocardiographic variant.It was initially felt to be benign,but in the last twenty years a suggested a link between specific types of early repolarization and sudden...; 关键词：SYNCOPE early REPOLARIZATION BRUGADA SYNDROME J wave SYNDROME genetic CHANNELOPATHY

CHANNELOPATHY