Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus-Reference-Cited by-同舟云学术

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Published:2006-07-16 Issue:8 Volume:38 Page:917-920
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Crow Yanick J,Hayward Bruce E,Parmar Rekha,Robins Peter,Leitch Andrea,Ali Manir,Black Deborah N,van Bokhoven Hans,Brunner Han G,Hamel Ben C,Corry Peter C,Cowan Frances M,Frints Suzanne G,Klepper Joerg,Livingston John H,Lynch Sally Ann,Massey Roger F,Meritet Jean François,Michaud Jacques L,Ponsot Gerard,Voit Thomas,Lebon Pierre,Bonthron David T,Jackson Andrew P,Barnes Deborah E,Lindahl Tomas

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1845.pdf

Reference30 articles.

1. Aicardi, J. & Goutières, F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann. Neurol. 15, 49–54 (1984).

2. Sanchis, A. et al. Genetic syndrome mimics congenital infection. J. Pediatr. 146, 701–705 (2005).

3. Crow, Y.J. et al. Cree encephalitis is allelic with Aicardi-Goutières syndrome; implications for the pathogenesis of disorders of interferon alpha metabolism. J. Med. Genet. 40, 183–187 (2003).

4. Lindahl, T., Gally, J.A. & Edelman, G.M. Properties of deoxyribonuclease 3 from mammalian tissues. J. Biol. Chem. 244, 5014–5019 (1969).

5. Morita, M. et al. Gene-targeted mice lacking the Trex1 (DNase III) 3′ → 5′ DNA exonuclease develop inflammatory myocarditis. Mol. Cell. Biol. 24, 6719–6727 (2004).

Cited by 750 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Monogenic lupus – from gene to targeted therapy;Molecular and Cellular Pediatrics;2024-09-12

2. cGAS activation in classical dendritic cells causes autoimmunity in TREX1-deficient mice;Proceedings of the National Academy of Sciences;2024-09-10

3. Targeting TREX1 Induces Innate Immune Response in Drug-Resistant Small-Cell Lung Cancer;Cancer Research Communications;2024-09-01

4. A novel TREX1 inhibitor, VB-85680, upregulates cellular interferon responses;PLOS ONE;2024-08-23

5. Cell-Free DNA GWAS Reveals Importance of p.Arg206Cys in DNASE1L3 for Non-Invasive Testing;2024-08-20