About 40 results

ALLMedicine™ Aicardi-goutieres Syndrome Center

Research & Reviews  16 results

The role of RNA editing enzyme ADAR1 in human disease.
Wiley Interdisciplinary Reviews. RNA; Song B, Shiromoto Y et. al.

Jun 9th, 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...

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Go...
Orphanet Journal of Rare Diseases; Kameli R, Amanat M et. al.

Jul 27th, 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...

cGAS activation causes lupus-like autoimmune disorders in a TREX1 mutant mouse model.
Journal of Autoimmunity; Xiao N, Wei J et. al.

Mar 15th, 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...

SAMHD1: Recurring roles in cell cycle, viral restriction, cancer, and innate immunity.
Autoimmunity Mauney CH, Hollis T

Mar 27th, 2018 - Sterile alpha motif and histidine-aspartic acid domain-containing protein 1 (SAMHD1) is a deoxynucleotide triphosphate (dNTP) hydrolase that plays an important role in the homeostatic balance of cellular dNTPs. Its emerging role as an effector of ...

Aicardi-Goutieres syndrome

Dec 25th, 2017 - Aicardi-Goutieres syndrome is an inherited disease that mainly affects the brain, immune system, and the skin.[1] Loss of white matter in the brain (leukodystrophy) and abnormal deposits of calcium (calcification) in the brain leads to an early-on...

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