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ALLMedicine™ Aicardi-goutieres Syndrome Center

Research & Reviews  19 results

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants w...
https://doi.org/10.1002/ajmg.a.62967
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 ...

Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the...
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...

The role of RNA editing enzyme ADAR1 in human disease.
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...

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Go...
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...

cGAS activation causes lupus-like autoimmune disorders in a TREX1 mutant mouse model.
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...

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