Intracerebral pseudotumors in a family with cerebroretinal vasculopathy.
作者信息
Sarkar Korak, Way Christopher, Hiniker Anne, Brock Rachel, Perry Arie, Verro Piero
机构信息
Departments of Neurology (KS, PV) and Neuroradiology (RB), University of California Davis; Department of Neurology (CW), Kaiser Permanente Los Angeles Medical Center; and Department of Pathology (AH, AP), University of California San Francisco.
出版信息
Neurol Clin Pract. 2012 Sep;2(3):251-254. doi: 10.1212/CPJ.0b013e31826af165.
Abstract
摘要
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本文引用的文献
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New roles for the major human 3'-5' exonuclease TREX1 in human disease.人类主要的3'-5'核酸外切酶TREX1在人类疾病中的新作用。
Cell Cycle. 2008 Jun 15;7(12):1718-25. doi: 10.4161/cc.7.12.6162. Epub 2008 Jun 16.
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Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.Trex1核酸外切酶降解单链DNA以防止慢性检查点激活和自身免疫性疾病。
Cell. 2007 Nov 30;131(5):873-86. doi: 10.1016/j.cell.2007.10.017.
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C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.人类3'-5' DNA核酸外切酶TREX1的C末端截短会导致伴有脑白质营养不良的常染色体显性视网膜血管病变。
Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29.
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Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.编码3'-5' DNA核酸外切酶TREX1的基因突变在AGS1位点导致Aicardi-Goutières综合征。
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