期刊
CELL CYCLE
卷 7, 期 12, 页码 1718-1725出版社
LANDES BIOSCIENCE
DOI: 10.4161/cc.7.12.6162
关键词
TREX1; TREX2; DNase III; stroke; cerebrovascular disease
类别
资金
- NIAMS NIH HHS [T32 AR007279, T32 AR007279-31A1] Funding Source: Medline
Aicardi-Goutieres syndrome (AGS), Systemic Lupus Erythematosus (SLE), Familial Chilblain Lupus (FCL) and Retinal Vasculopathy and Cerebral Leukodystrophy (RVCL) {a new term encompassing three independently described conditions with a common etiology - Cerebroretinal Vasculopathy (CRV), Hereditary Vascular Retinopathy (HVR) and Hereditary Endotheliopathy, Retinopathy and Nephropathy (HERNS)}- have previously been regarded as distinct entities. However, recent genetic analysis has demonstrated that each of these diseases maps to chromosome 3p21 and can be caused by mutations in TREX1, the major human 3' - 5' exonuclease. In this review, we discuss the putative functions of TREX1 in relationship to the clinical, genetic and functional characteristics of each of these conditions.
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