ALLMedicine™ Aicardi-goutieres Syndrome Center
Research & Reviews 19 results
Arthritis & Rheumatology (Hoboken, N.J.); MacLauchlan S, Fitzgerald KA et. al.
Jun 4th, 2022 - DNA has emerged as a Pathogen Associated Molecular Pattern (PAMP), posing unique challenges in the discrimination between endogenous (self) and foreign DNA. This challenge is highlighted by certain autoinflammatory diseases that arise from monogen...
European Journal of Medical Genetics; Abraham SSC, Yoganathan S et. al.
Jul 26th, 2021 - Aicardi-Goutieres Syndrome (AGS) is a heterogeneous genetic syndrome, manifesting early as encephalopathy and is associated with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, thrombocytopenia and intracranial calcificat...
Wiley Interdisciplinary Reviews. RNA; Song B, Shiromoto Y et. al.
Jun 10th, 2021 - Adenosine deaminase acting on RNA (ADAR) catalyzes the posttranscriptional conversion of adenosine to inosine in double-stranded RNA (dsRNA), which can lead to the creation of missense mutations in coding sequences. Recent studies show that editin...
Orphanet Journal of Rare Diseases; Kameli R, Amanat M et. al.
Jul 28th, 2019 - Restricted factor analysis (RFA) is a powerful method to test for uniform differential item functioning (DIF), but it may require empirically selecting anchor items to prevent inflated Type I error rates. We conducted a simulation study to compare...
Journal of Autoimmunity; Xiao N, Wei J et. al.
Mar 16th, 2019 - TREX1 encodes a major cellular DNA exonuclease. Mutations of this gene in human cause cellular accumulation of DNA that triggers autoimmune diseases including Aicardi-Goutieres Syndrome (AGS) and systemic lupus erythematosus (SLE). We created a lu...