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ALLMedicine™ Aicardi-goutieres Syndrome Center

Research & Reviews  20 results

JAK: Not Just Another Kinase.
https://doi.org/10.1158/1535-7163.MCT-22-0323
Molecular Cancer Therapeutics; Agashe RP, Lippman SM et. al.

Oct 18th, 2022 - The JAK/STAT axis is implicated in cancer, inflammation, and immunity. Numerous cytokines/growth factors affect JAK/STAT signaling. JAKs (JAK1, JAK2, JAK3, and TYK2) noncovalently associate with cytokine receptors, mediate receptor tyrosine phosph...

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants w...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703357
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...

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