| 题名 | Genetic Imbalance in Patients with Cervical Artery Dissection |
| 作者 | Grond-Ginsbach, Caspar1  ; Chen, Bowang2; Krawczak, Michael3; Pjontek, Rastislav4; Ginsbach, Philip5; Jiang, Yanxiang6; Abboud, Sherine7; Arnold, Marie-Luise1; Bersano, Anna8; Brandt, Tobias9; Caso, Valeria10; Debette, Stephanie11; Dichgans, Martin12,13; Geschwendtner, Andreas12; Giacalone, Giacomo14; Martin, Juan-Jose15; Metso, Antti J.16; Metso, Tiina M.16; Grau, Armin J.17; Kloss, Manja1; Lichy, Christoph18; Pezzini, Alessandro19; Traenka, Christopher20,21; Schreiber, Stefan22; Thijs, Vincent23; Touze, Emmanuel24,25; Del Zott, Elisabetta26; Tatlisumak, Turgut16,27,28; Leys, Didier29; Lyrer, Philippe A.20,21; Engelter, Stefan T.20,21,30
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| 通讯作者 | Grond-Ginsbach, Caspar |
| 发表日期 | 2017
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| DOI | |
| 发表期刊 | |
| ISSN | 1389-2029
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| EISSN | 1875-5488
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| 卷号 | 18期号:2页码:206-213 |
| 摘要 | Background: Genetic and environmental risk factors are assumed to contribute to the susceptibility to cervical artery dissection (CeAD). To explore the role of genetic imbalance in the etiology of CeAD, copy number variants (CNVs) were identified in high-density microarrays samples from the multicenter CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) study and from control subjects from the CADISP study and the German PopGen biobank. Microarray data from 833 CeAD patients and 2040 control subjects (565 subjects with ischemic stroke due to causes different from CeAD and 1475 disease-free individuals) were analyzed. Rare genic CNVs were equally frequent in CeAD-patients (16.4%; n=137) and in control subjects (17.0%; n=346) but differed with respect to their genetic content. Compared to control subjects, CNVs from CeAD patients were enriched for genes associated with muscle organ development and cell differentiation, which suggests a possible association with arterial development. CNVs affecting cardiovascular system development were more common in CeAD patients than in control subjects (p=0.003; odds ratio (OR) =2.5; 95% confidence interval (95% CI) = 1.4-4.5) and more common in patients with a familial history of CeAD than in those with sporadic CeAD (p=0.036; OR=11.2; 95% CI=1.2-107). |
| 关键词 | |
| 相关链接 | [来源记录] |
| 收录类别 | |
| 语种 | 英语
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| 学校署名 | 其他
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| 资助项目 | German Federal Ministry of Education and Research (BMBF)[01EY1103]
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| WOS研究方向 | Biochemistry & Molecular Biology
; Genetics & Heredity
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| WOS类目 | Biochemistry & Molecular Biology
; Genetics & Heredity
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| WOS记录号 | WOS:000400683600006
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| 出版者 | |
| ESI学科分类 | MOLECULAR BIOLOGY & GENETICS
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| 来源库 | Web of Science
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| 引用统计 |
被引频次[WOS]：25
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| 成果类型 | 期刊论文 |
| 条目标识符 | http://sustech.caswiz.com/handle/2SGJ60CL/29294 |
| 专题 | 生命科学学院_生物系 |
| 作者单位 | 1.Univ Heidelberg Hosp, Dept Neurol, Heidelberg, Germany 2.South Univ Sci & Technol China, Dept Biol, Shenzhen, Peoples R China 3.Christian Albrechts Univ Kiel, Inst Med Informat & Stat, Kiel, Germany 4.Univ Aachen, Dept Neuroradiol, Aachen, Germany 5.Univ Edinburgh, Sch Informat, Edinburgh, Midlothian, Scotland 6.Heidelberg Univ, Dept Gynecol & Obstet, Heidelberg, Germany 7.Univ Libre Bruxelles, Lab Expt Neurol, Brussels, Belgium 8.IRCCS Fdn CBesta Neurol Inst, Cerebrovasc Unit, Via Celoria 11, Milan, Italy 9.Kliniken Schmieder, Clin Neurol Rehabil, Heidelberg, Germany 10.Perugia Univ Hosp, Stroke Unit, Perugia, Italy 11.Hop Lariboisiere, Dept Neurol, Paris, France 12.Ludwig Maximilians Univ Munchen, Klinikum Univ Munchen, Inst Stroke & Dementia Res, Munich, Germany 13.Munich Cluster Syst Neurol SyNergy, Munich, Germany 14.San Raffaele Univ Hosp, Dept Neurol, Milan, Italy 15.Sanatorio Allende, Dept Neurol, Cordoba, Argentina 16.Univ Helsinki, Cent Hosp, Dept Neurol, Helsinki, Finland 17.Klinikum Ludwigshafen, Dept Neurol, Ludwigshafen, Germany 18.Klinikum Memmingen, Dept Neurol, Memmingen, Germany 19.Univ Brescia, Dept Clin & Expt Sci, Neurol Clin, Brescia, Italy 20.Univ Basel Hosp, Dept Neurol, Basel, Switzerland 21.Univ Basel Hosp, Stroke Ctr, Basel, Switzerland 22.Univ Hosp Schleswig Holstein, Dept Internal Med, Kiel, Germany 23.Vesalius Res Ctr, Lab Neurobiol, Expt Neurol, Leuven, Belgium 24.Paris Descartes Univ, St Anne Hosp, INSERM, Dept Neurol,UMR S894, Paris, France 25.Univ Caen Basse Normandie, CHU Cote Nacre, INSERM U919, Dept Neurol, Caen, France 26.IRCCS Don Gnocchi Fdn, Dept Recovery & Funct Rehabil, Milan, Italy 27.Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Gothenburg, Sweden 28.Sahlgrens Univ Hosp, Dept Neurol, Gothenburg, Sweden 29.Univ Hosp Lille, INSERM U1171, Dept Neurol, Lille, France 30.Univ Ctr Med Aging & Rehabil, Felix Platter Spital, Neurorehabil Unit, Basel, Switzerland |
| 推荐引用方式 GB/T 7714 |
Grond-Ginsbach, Caspar,Chen, Bowang,Krawczak, Michael,et al. Genetic Imbalance in Patients with Cervical Artery Dissection[J]. CURRENT GENOMICS,2017,18(2):206-213.
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| APA |
Grond-Ginsbach, Caspar.,Chen, Bowang.,Krawczak, Michael.,Pjontek, Rastislav.,Ginsbach, Philip.,...&Engelter, Stefan T..(2017).Genetic Imbalance in Patients with Cervical Artery Dissection.CURRENT GENOMICS,18(2),206-213.
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| MLA |
Grond-Ginsbach, Caspar,et al."Genetic Imbalance in Patients with Cervical Artery Dissection".CURRENT GENOMICS 18.2(2017):206-213.
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| 条目包含的文件 | ||||||
| 文件名称/大小 | 文献类型 | 版本类型 | 开放类型 | 使用许可 | 操作 | |
| CG-18-206.pdf（4593KB） | -- | -- | 限制开放 | -- | ||
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