Concepedia

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gillian Rice, Jacquelyn Bond, Aruna Asipu, Rebecca Brunette, Iain W. Manfield, Ian Carr, Jonathan C. Fuller, Richard M. Jackson, Teresa M. Lamb, Tracy A. Briggs,

Nature Genetics · 2009 · 684 citations · 20 references

DOI

Concepts

References

20

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

Yanick J. Crow, Bruce E. Hayward, Rekha Parmar et al. · Nature Genetics · 2006 · 892 citations

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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus

Min Ae Lee‐Kirsch, Maolian Gong, Dipanjan Chowdhury et al. · Nature Genetics · 2007 · 725 citations

, , +10

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

Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al. · Nature Genetics · 2006 · 673 citations

, , +11

Trex1 Exonuclease Degrades ssDNA to Prevent Chronic Checkpoint Activation and Autoimmune Disease

Yun‐Gui Yang, Tomas Lindahl, Deborah E. Barnes · Cell · 2007 · 581 citations · Full text

, , +16

The HD domain defines a new superfamily of metal-dependent phosphohydrolases

L. Aravind, Eugene V. Koonin · Trends in Biochemical Sciences · 1998 · 470 citations

, , +12