ALLMedicine™ Aicardi-goutieres Syndrome Center
Research & Reviews 19 results
American Journal of Medical Genetics. Part A; Kumar RD, Meng L et. al.
Sep 7th, 2022 - Stroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1%-5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES) in the ...
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...