Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.
作者信息
Mateen F J, Krecke K, Younge B R, Ford A L, Shaikh A, Kothari P H, Atkinson J P
机构信息
Department of Neurology, The Johns Hopkins University, Baltimore, MD, USA.
出版信息
Neurology. 2010 Sep 28;75(13):1211-3. doi: 10.1212/WNL.0b013e3181f4d7ac.
Abstract
摘要
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本文引用的文献
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Cell. 2007 Nov 30;131(5):873-86. doi: 10.1016/j.cell.2007.10.017.
2
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.
3
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。
Nat Genet. 2006 Aug;38(8):917-20. doi: 10.1038/ng1845. Epub 2006 Jul 16.
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The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death.核酸外切酶TREX1存在于SET复合物中，并与NM23-H1协同作用，在颗粒酶A介导的细胞死亡过程中降解DNA。
Mol Cell. 2006 Jul 7;23(1):133-42. doi: 10.1016/j.molcel.2006.06.005.
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Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases.编码哺乳动物3'→5'核酸外切酶的TREX1和TREX2 cDNA序列的鉴定与表达。
J Biol Chem. 1999 Jul 9;274(28):19655-60. doi: 10.1074/jbc.274.28.19655.
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Cerebroretinal vasculopathy. A new hereditary syndrome.脑视网膜血管病变。一种新的遗传性综合征。
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