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1995 1
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118 results

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Page 1
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 …
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 …
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.
Collapsing glomerulopathy, a histopathological lesion characterized by podocyte loss, collapse of the vascular tuft, and parietal epithelial cell proliferation, is commonly associated with viral infections, has been described in type 1 interferonopathies such as Aicardi- …
Collapsing glomerulopathy, a histopathological lesion characterized by podocyte loss, collapse of the vascular tuft, and parietal epithelial …
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.
Furthermore, dermatologic and neurologic improvements have been observed in children with Aicardi-Goutieres syndrome (a genetic interferonopathy) treated with JAK inhibitors....
Furthermore, dermatologic and neurologic improvements have been observed in children with Aicardi-Goutieres syndrome (a …
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. ...
Deficiency in these ADAR1 functions underlie the pathogenesis of autoinflammatory diseases such as the type I interferonopathies Aicardi …
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 …
Novel insights into double-stranded RNA-mediated immunopathology.
de Reuver R, Maelfait J. de Reuver R, et al. Nat Rev Immunol. 2024 Apr;24(4):235-249. doi: 10.1038/s41577-023-00940-3. Epub 2023 Sep 26. Nat Rev Immunol. 2024. PMID: 37752355 Review.
Novel mouse models recapitulate loss-of-function mutations in the RNA editing enzyme ADAR1 that are found in patients with Aicardi-Goutieres syndrome (AGS) - a monogenic inflammatory disease associated with increased levels of type I interferon. ...
Novel mouse models recapitulate loss-of-function mutations in the RNA editing enzyme ADAR1 that are found in patients with Aicardi- …
Aicardi-Goutieres syndrome.
Orcesi S, La Piana R, Fazzi E. Orcesi S, et al. Br Med Bull. 2009;89:183-201. doi: 10.1093/bmb/ldn049. Epub 2009 Jan 7. Br Med Bull. 2009. PMID: 19129251 Review.
INTRODUCTION: Aicardi-Goutieres syndrome (AGS) is an autosomal recessive encephalopathy characterized by acquired microcephaly, cerebral calcifications, leukodystrophy, cerebral atrophy and cerebrospinal fluid findings of chronic lymphocytosis and raised inte …
INTRODUCTION: Aicardi-Goutieres syndrome (AGS) is an autosomal recessive encephalopathy characterized by acquired micro …
118 results