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المؤلفون: Hongbo Xiong, Chuchu Wang, Zhijie Wang, Yuan Huang, Yufeng Huang, Dan Wang, Qing Kenneth Wang, Fenfen Fu, Fan Wang, Pengyun Wang, Gang Wu, Qin Yang, Chengqi Xu, Jielin Pu, Yuanyuan Zhao, Qiuyun Chen, Longfei Wang, Yongbo Wang, Sisi Li, Xin Tu, Yu Xue, Yufeng Yao
المصدر: Molecular Genetics and Genomics. 294:1059-1071
مصطلحات موضوعية: Adult, Male, 0106 biological sciences, 0301 basic medicine, Nonsynonymous substitution, medicine.medical_specialty, Population, Down-Regulation, Biology, Ventricular tachycardia, 01 natural sciences, Article, Sudden cardiac death, 03 medical and health sciences, symbols.namesake, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, education, Molecular Biology, Genetic Association Studies, Aged, Genetic association, Sanger sequencing, education.field_of_study, Voltage-Gated Sodium Channel beta-4 Subunit, Sequence Analysis, DNA, General Medicine, Odds ratio, Middle Aged, medicine.disease, HEK293 Cells, 030104 developmental biology, Amino Acid Substitution, Case-Control Studies, Sodium channel complex, Tachycardia, Ventricular, Cardiology, symbols, Female, 010606 plant biology & botany
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المؤلفون: Qin Yang, Xin Tu, Xiaoping Zhang, Qing Kenneth Wang, Dong Yu, Shanshan Chen, Cheng Fang, Pengyun Wang, Feifei Chen, Xiaojing Wang, Xiang Ren, Yanzong Yang, Tie Ke, Qiuyun Chen, Hongfu Zhang, Pengxia Wang, Xiang Cheng, Gang Wu, Chengqi Xu, Chencheng Tan, Yufeng Huang, Yunlong Xia, Yuanyuan Zhao, Ying Liu, Yuan Huang, Yanxia Wu, Sisi Li, Yuhua Liao, Hui Li, Rongfeng Zhang, Hongbo Xiong
المصدر: Annals of Human Genetics. 83:239-248
مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, DNA Mutational Analysis, Population, Polymorphism, Single Nucleotide, Sudden death, Article, 03 medical and health sciences, SCN3B, SCN1B, Internal medicine, Atrial Fibrillation, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, education, Alleles, Genetics (clinical), Aged, 030304 developmental biology, 0303 health sciences, education.field_of_study, Voltage-Gated Sodium Channel beta-4 Subunit, business.industry, 030305 genetics & heredity, Computational Biology, Genetic Variation, Atrial fibrillation, Odds ratio, Middle Aged, medicine.disease, Amino Acid Substitution, Case-Control Studies, Sodium channel complex, Mutation, Cardiology, Female, business
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المؤلفون: Zhijie Wang, Jun Qin, Qiuyun Chen, Qing Kenneth Wang, Y. T. Hu, Yabo Li, Gang Yu, Susmita Chakrabarti, Yinan Liu, Fan Wang
المصدر: Journal of Biological Chemistry. 293:18207-18217
مصطلحات موضوعية: 0301 basic medicine, Amino Acid Motifs, Mutation, Missense, 030204 cardiovascular system & hematology, Nav1.5, Biochemistry, NAV1.5 Voltage-Gated Sodium Channel, Protein–protein interaction, 03 medical and health sciences, 0302 clinical medicine, Protein Domains, Cardiac conduction, medicine, Humans, Myocytes, Cardiac, Binding site, Molecular Biology, Brugada Syndrome, Brugada syndrome, biology, Chemistry, Sodium channel, Molecular Bases of Disease, Cell Biology, Sudden infant death syndrome, medicine.disease, Cell biology, Protein Transport, ran GTP-Binding Protein, 030104 developmental biology, Amino Acid Substitution, Sodium channel complex, biology.protein, Gene Deletion, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::781347a00695a187cae5ae6d0d744d71
https://doi.org/10.1074/jbc.ra118.003997 -
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المؤلفون: Diana João Fonseca, Manuel Vaz da Silva
المصدر: Revista Portuguesa de Cardiologia (English Edition), Vol 37, Iss 2, Pp 179-199 (2018)
مصطلحات موضوعية: 0301 basic medicine, lcsh:Diseases of the circulatory (Cardiovascular) system, Heart disease, Long QT syndrome, 030204 cardiovascular system & hematology, medicine.disease_cause, Bioinformatics, Sodium Channels, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Humans, Medicine, General Environmental Science, Brugada syndrome, Mutation, business.industry, Sodium channel, medicine.disease, 030104 developmental biology, lcsh:RC666-701, Sodium channel complex, General Earth and Planetary Sciences, Channelopathies, Cardiomyopathies, business, Algorithms
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المصدر: Voltage-gated Sodium Channels: Structure, Function and Channelopathies ISBN: 9783319902838
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, Voltage-gated ion channel, Membrane protein, Chemistry, Sodium channel, Sodium channel complex, Protein subunit, Transmembrane protein, Ion channel, Potassium channel, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e81a434e4607d645cfc679c39b066204
https://doi.org/10.1007/164_2017_75 -
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المؤلفون: Cristiana Picco, Oscar Moran, Debora Baroni
المصدر: Scientific reports (Nature Publishing Group) 7 (2017). doi:10.1038/s41598-017-10645-y
info:cnr-pdr/source/autori:Baroni D, Picco C, Moran O/titolo:Mutation E87Q of the beta 1-subunit impairs the maturation of the cardiac voltage-dependent sodium channel/doi:10.1038%2Fs41598-017-10645-y/rivista:Scientific reports (Nature Publishing Group)/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume:7
Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Protein subunit, Fluorescent Antibody Technique, Gene Expression, lcsh:Medicine, CHO Cells, medicine.disease_cause, Article, long-qt syndrome, beta-subunits, na+ channel, brugada-syndrome, mammalian-cells, functional expression, extracellular domain, sialic-acid, modulation, mechanism, 03 medical and health sciences, Cricetulus, 0302 clinical medicine, medicine, Animals, Humans, lcsh:Science, Integral membrane protein, Protein maturation, Alleles, Brugada syndrome, Mutation, Multidisciplinary, Chemistry, Sodium channel, lcsh:R, Voltage-Gated Sodium Channel beta-1 Subunit, medicine.disease, Cell biology, 030104 developmental biology, Amino Acid Substitution, Multigene Family, Sodium channel complex, lcsh:Q, Heterologous expression, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358c224274aa214886cf8e8452e9ed02
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المؤلفون: Hyun Jeong Kim, Hye-Mi Kim, Frank H. Yu, Jisoo Lee, Shinae Kim
المصدر: PLoS ONE, Vol 14, Iss 8, p e0221156 (2019)
PLoS ONEمصطلحات موضوعية: Voltage-Gated Ion Channels, 0301 basic medicine, Patch-Clamp Techniques, Physiology, Artificial Gene Amplification and Extension, Voltage-Gated Sodium Channels, Biochemistry, Polymerase Chain Reaction, Ion Channels, Sodium Channels, Membrane Potentials, Mice, Neuroblastoma, chemistry.chemical_compound, 0302 clinical medicine, Voltage-gated sodium channel complex, Artificial DNA amplification, Medicine and Health Sciences, Blastomas, Multidisciplinary, Physics, NAV1.7 Voltage-Gated Sodium Channel, CHO cells, Transfection, Complementary DNA amplification, Electrophysiology, Oncology, Physical Sciences, Tetrodotoxin, Cell lines, Medicine, Biological cultures, Ion Channel Gating, Sodium Channel Blockers, Research Article, Science, Biophysics, Neurophysiology, Research and Analysis Methods, 03 medical and health sciences, Extraction techniques, Cell Line, Tumor, Animals, Patch clamp, Molecular Biology Techniques, Molecular Biology, Ion channel, Hybridomas, Gene Expression Profiling, Sodium channel, Sodium, HEK 293 cells, Biology and Life Sciences, Proteins, Cancers and Neoplasms, Reverse Transcriptase-Polymerase Chain Reaction, RNA extraction, Rats, 030104 developmental biology, chemistry, NAV1.6 Voltage-Gated Sodium Channel, Cell culture, 030217 neurology & neurosurgery, Neuroscience
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المؤلفون: Miroslav N. Nenov, Neli I. Panova-Elektronova, Ronald L. Veselenak, Alexander S. Shavkunov, Thomas F. James, Thomas A. Green, Nigel Bourne, Norelle C. Wildburger, Fernanda Laezza, Tetyana P. Buzhdygan
المصدر: Journal of Biological Chemistry. 288:19370-19385
مصطلحات موضوعية: Biology, Hippocampus, Biochemistry, TRPC1, Glycogen Synthase Kinase 3, Mice, Voltage-gated sodium channel complex, Neurobiology, Protein-fragment complementation assay, GSK-3, Animals, Humans, Enzyme Inhibitors, Molecular Biology, Ion channel, Mice, Knockout, Neurons, Sodium channel, Cell Biology, Rats, Cell biology, Fibroblast Growth Factors, HEK293 Cells, NAV1.6 Voltage-Gated Sodium Channel, Multiprotein Complexes, Phosphorylation, Signal transduction, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b13a982c6cc1062dbafafd453fdc8ef
https://doi.org/10.1074/jbc.m112.445924 -
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المؤلفون: Roland G. Kallen, A J Hudson, George C. Ebers, S. S. Ting‐Passador, Robert L. Barchi, G. M. Lathrop, Angelika F. Hahn, Alfred L. George, R. D. Campbell, William F. Brown, J. S. Beckman
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Myotonia Congenita, Nav1.4, Muscle Proteins, Familial periodic paralysis, Tetrodotoxin, Sodium Channels, Paralyses, Familial Periodic, Internal medicine, medicine, Humans, Hyperkalemic periodic paralysis, Genetics, CLCN1, biology, Myotonia congenita, Muscles, medicine.disease, Myotonia, Pedigree, Endocrinology, Phenotype, Neurology, Genes, Paramyotonia congenita, Sodium channel complex, biology.protein, Hyperkalemia, Female, Neurology (clinical), Lod Score, Polymorphism, Restriction Fragment Length, Chromosomes, Human, Pair 17
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd935069e229339137d568b409ad7f0
https://doi.org/10.1002/ana.410300610 -
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المؤلفون: Walter Birchmeier, Mario Delmar, Feng-Xia Liang, Marina Cerrone, Thomas J. Hund, Halina Chkourko, Harold V.M. van Rijen, Toon A.B. van Veen, Roel van der Nagel, Peter J. Mohler, Maartje Noorman, Xianming Lin
المصدر: Cardiovascular Research. 95:460-468
مصطلحات موضوعية: medicine.medical_specialty, Physiology, Action Potentials, Haploinsufficiency, Biology, Sudden death, Sodium Channels, Right ventricular cardiomyopathy, Electrocardiography, Mice, Physiology (medical), Internal medicine, medicine, Animals, Genetic Predisposition to Disease, Myocytes, Cardiac, Flecainide, Arrhythmogenic Right Ventricular Dysplasia, Mice, Knockout, Voltage-Gated Sodium Channel Blockers, Sodium, Original Articles, medicine.disease, Arrhythmogenic right ventricular dysplasia, Perfusion, Disease Models, Animal, Kinetics, Phenotype, Endocrinology, Sodium channel complex, Ventricular fibrillation, Cardiology, Cardiology and Cardiovascular Medicine, Anti-Arrhythmia Agents, Ion Channel Gating, Plakophilins, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06131f54cf59419478731ad6e8bb8a8a
https://doi.org/10.1093/cvr/cvs218
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