ALLMedicine™ Aicardi-goutieres Syndrome Center
Research & Reviews 19 results
https://doi.org/10.1002/art.42256
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...
https://doi.org/10.1016/j.ejmg.2021.104291
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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8651834
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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420445
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...
https://doi.org/10.1016/j.jaut.2019.03.001
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...