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Page 1
Aicardi-Goutieres syndrome: A monogenic type I interferonopathy.
Liu A, Ying S. Liu A, et al. Scand J Immunol. 2023 Oct;98(4):e13314. doi: 10.1111/sji.13314. Epub 2023 Jul 29. Scand J Immunol. 2023. PMID: 37515439 Free article. Review.
Aicardi-Goutieres syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children patients. ...AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RN
Aicardi-Goutieres syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children p
JAK: Not Just Another Kinase.
Agashe RP, Lippman SM, Kurzrock R. Agashe RP, et al. Mol Cancer Ther. 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323. Mol Cancer Ther. 2022. PMID: 36252553 Free PMC article. Review.
JAKs (JAK1, JAK2, JAK3, and TYK2) noncovalently associate with cytokine receptors, mediate receptor tyrosine phosphorylation, and recruit 1 STAT proteins (STAT1, STAT2, STAT3, STAT4, STAT5a, STAT5b, and STAT6). Tyrosine-phosphorylated STATs dimerize and are then transporte …
JAKs (JAK1, JAK2, JAK3, and TYK2) noncovalently associate with cytokine receptors, mediate receptor tyrosine phosphorylation, and recruit …
Aicardi-Goutieres syndrome and the type I interferonopathies.
Crow YJ, Manel N. Crow YJ, et al. Nat Rev Immunol. 2015 Jul;15(7):429-40. doi: 10.1038/nri3850. Epub 2015 Jun 5. Nat Rev Immunol. 2015. PMID: 26052098 Review.
Dissection of the genetic basis of Aicardi-Goutieres syndrome has highlighted a fundamental link between nucleic acid metabolism, innate immune sensors and type I interferon induction. ...
Dissection of the genetic basis of Aicardi-Goutieres syndrome has highlighted a fundamental link between nucleic acid m …
Type I interferon-related kidney disorders.
Lodi L, Mastrolia MV, Bello F, Rossi GM, Angelotti ML, Crow YJ, Romagnani P, Vaglio A. Lodi L, et al. Kidney Int. 2022 Jun;101(6):1142-1159. doi: 10.1016/j.kint.2022.02.031. Epub 2022 Mar 24. Kidney Int. 2022. PMID: 35339535 Review.
Enhanced IFN-I signaling is observed in the context of viral infections, autoimmunity (e.g., systemic lupus erythematosus), and type 1 interferonopathies, rare monogenic disorders characterized by constitutive activation of the IFN-I pathway. ...Collapsing glomerulopathy, …
Enhanced IFN-I signaling is observed in the context of viral infections, autoimmunity (e.g., systemic lupus erythematosus), and type 1
Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Thakkar RN, Patel D, Kioutchoukova IP, Al-Bahou R, Reddy P, Foster DT, Lucke-Wold B. Thakkar RN, et al. Med Sci (Basel). 2024 Jan 25;12(1):7. doi: 10.3390/medsci12010007. Med Sci (Basel). 2024. PMID: 38390857 Free PMC article. Review.
The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, Pelizaeus-Merzbacher disease, Alexander's disease, Canavan disease, and Aicardi-Goutieres Syndrome....
The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, Pelizaeu …
Treatments in Aicardi-Goutieres syndrome.
Crow YJ, Shetty J, Livingston JH. Crow YJ, et al. Dev Med Child Neurol. 2020 Jan;62(1):42-47. doi: 10.1111/dmcn.14268. Epub 2019 Jun 7. Dev Med Child Neurol. 2020. PMID: 31175662 Free article. Review.
Comprehensive reviews of the clinical characteristics and pathogenesis of Aicardi-Goutieres syndrome (AGS), particularly its contextualization within a putative type I interferonopathy framework, already exist. ...
Comprehensive reviews of the clinical characteristics and pathogenesis of Aicardi-Goutieres syndrome (AGS), particularl …
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
The role of RNA editing enzyme ADAR1 in human disease.
Song B, Shiromoto Y, Minakuchi M, Nishikura K. Song B, et al. Wiley Interdiscip Rev RNA. 2022 Jan;13(1):e1665. doi: 10.1002/wrna.1665. Epub 2021 Jun 8. Wiley Interdiscip Rev RNA. 2022. PMID: 34105255 Free PMC article. Review.
Deficiency in these ADAR1 functions underlie the pathogenesis of autoinflammatory diseases such as the type I interferonopathies Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria. ADAR1-mediated editing of endogenous coding and noncoding RN …
Deficiency in these ADAR1 functions underlie the pathogenesis of autoinflammatory diseases such as the type I interferonopathies Aicardi
Aicardi-Goutieres syndrome.
Crow YJ. Crow YJ. Handb Clin Neurol. 2013;113:1629-35. doi: 10.1016/B978-0-444-59565-2.00031-9. Handb Clin Neurol. 2013. PMID: 23622384 Review.
Aicardi-Goutieres syndrome (AGS) is a genetically determined encephalopathy demonstrating phenotypic overlap both with the sequelae of congenital infection and with systemic lupus erythematosus (SLE). ...
Aicardi-Goutieres syndrome (AGS) is a genetically determined encephalopathy demonstrating phenotypic overlap both with
68 results