Disease: Aicardi-Goutieres syndrome 5
- <em>IFIH1</em> and <em>DDX58</em> gene variants in pediatric rheumatic diseases
- ADAR1 Zα domain P195A mutation activates the MDA5-dependent RNA-sensing signaling pathway in brain without decreasing overall RNA editing
- Aicardi-Goutières Syndrome due to a <em>SAMHD1</em> Mutation Presenting with Deep White Matter Cysts
- Aicardi-Goutières syndrome type 7 in a Chinese child: A case report
- An AGS-associated mutation in ADAR1 catalytic domain results in early-onset and MDA5-dependent encephalopathy with IFN pathway activation in the brain
- Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case
- Double-Stranded RNA Induces Mortality in an MDA5-Mediated Type I Interferonopathy Model
- Early arteriopathy in Aicardi-Goutieres syndrome 5. Case report and review of literature
- Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS)
- Establishment of induced pluripotent stem cell model of Aicardi-Goutières Syndrome mutated in TREX1
- Generation of a new <em>Adar1p150</em> <sup>-<em>/</em>-</sup> mouse demonstrates isoform-specific roles in embryonic development and adult homeostasis
- Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations
- Incidence of Aicardi-Goutières syndrome and <em>KCNT1</em>-related epilepsy in Denmark
- Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report
- Moyamoya Syndrome in an Infant with Aicardi-Goutières and Williams Syndromes: A Case Report
- The ADAR1 editome reveals drivers of editing-specificity for ADAR1-isoforms
- The phenotype of the most common human ADAR1p150 Zα mutation P193A in mice is partially penetrant
- The RNA-editing enzyme ADAR1: a regulatory hub that tunes multiple dsRNA-sensing pathways
- Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number