David T. Bonthron

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 · 876 citations

Ags1 Locus, Mendelian Disorder, Genetic Disorder +11

Correction: Corrigendum: Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome

Miguel A. Lanaspa, Takuji Ishimoto, Nanxing Li et al. · Nature Communications · 2013 · 797 citations · Full text

Metabolic Syndrome, Biosynthesis, Energy Metabolism +13

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

Gillian Rice, Jacquelyn Bond, Aruna Asipu et al. · Nature Genetics · 2009 · 680 citations · Full text

Allergy, Autoimmune Disease, Pathogenesis +5

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 · 666 citations

Ribonuclease H2, Viral Evolution, Genetic Disorder +10

Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element.

Neil M. Resnick, Tucker Collins, William Atkinson et al. · Proceedings of the National Academy of Sciences · 1993 · 633 citations · Full text

Endothelial Cells, Biomedical Engineering, Transcriptional Regulation +19