Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

By Y. J. Crow, A. Leitch, B. Hayward, Anna Garner, R. Parmar, E. Griffith, Manir Ali, C. Semple, J. Aicardi, R. Babul‐Hirji and 35 more. Nature Genetics, 2006

708 citations recorded by the source corpus.

Subfields: Immunology, Infectious Diseases, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/d14a2cab34206d9080a6a8c0f695f6a12bfd021a

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Immunology

1. Zhijian J. Chen
2. Daniel B. Stetson
3. R. Medzhitov
4. Tuo Li
5. T. Heidmann
6. J. S. Ko
7. Shizuo Akira
8. Taro Kawai

In Infectious Diseases

1. Tuo Li
2. Zhijian J. Chen
3. R. Medzhitov

In Molecular Biology

1. Zhijian J. Chen
2. Tuo Li
3. T. Heidmann
4. Daniel B. Stetson
5. J. S. Ko
6. R. Medzhitov
7. Shizuo Akira
8. Haig H. Kazazian

Citations in the corpus

• Trex1 prevents cell-intrinsic initiation of autoimmunity (2008, positive): “Trex1 R114H and Trex1 V201D, which cause recessive AGS, had no effect on IAP or L1 retrotransposition , consistent with the loss of function observed for these mutants in exonuclease assays (Figure 6F) (Crow et al., 2006a).”
• 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).”