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

By Y. Crow, B. Hayward, R. Parmar, P. Robins, A. Leitch, Manir Ali, D. Black, H. Bokhoven, H. Brunner, B. Hamel and 16 more. Nature Genetics, 2006

873 citations recorded by the source corpus.

Subfields: Animal Science and Zoology, Immunology, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/e0b2a5810e7b8a776fe81b711cd377a7887cdd0f

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In Immunology

1. Shizuo Akira
2. Taro Kawai
3. Zhijian J. Chen
4. R. Medzhitov
5. O. Takeuchi
6. Daniel B. Stetson
7. Tuo Li
8. Y. Chiu

In Molecular Biology

1. Shizuo Akira
2. Zhijian J. Chen
3. Taro Kawai
4. O. Takeuchi
5. R. Medzhitov
6. A. Ablasser
7. Tuo Li
8. Daniel B. Stetson

Citations in the corpus

• Early steps in the DNA base excision/single-strand interruption repair pathway in mammalian cells (2008, background): “Recently, TREX1 was indicated to be the product of AGS1 gene whose deficiency causes severe brain disease [142].”
• The cGAS-cGAMP-STING pathway of cytosolic DNA sensing and signaling. (2014, background): “Bioinformatic analysis suggests that STING evolved the ability to bind CDNs long before catalytically competent cGAS emerged in vertebrates, suggesting the possible existence of other CDNs (Schaap, 2013).”
• Immune sensing of DNA (2013, neutral): “I IFN response during cytomegalovirus (CMV) infection in human foreskin fibroblasts (DeFilippis et al., 2010).”
• cGAS in action: Expanding roles in immunity and inflammation (2019, background): “In humans, TREX1 was the first gene to be linked to the rare genetic disorder Aicardi– Goutières syndrome (AGS), a systemic inflammatory disease with an early onset (73).”
• The cGAS–cGAMP–STING pathway connects DNA damage to inflammation, senescence, and cancer (2018, background): “Genetic defects in any of the three subunits of RNaseH2 leads to chronic DNA damage, elevated type I IFNs and perinatal lethality in mice (Hiller et al., 2012; Reijns et al., 2012; Mackenzie et al., 2016; Pokatayev et al., 2016), and the AGS phenotypes in humans (Crow et al., 2006b).”
• The role of pattern-recognition receptors in innate immunity: update on Toll-like receptors (2010, background): “Mutations in the gene encoding the repair exonuclease TREX1 are found in Aicardi-Goutieres syndrome, which is characterized by a fatal encephalopathy associated with greater production of type I interfero”