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Year Number of Results
2008 3
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2010 1
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18 results

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Page 1
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 …
Early arteriopathy in Aicardi-Goutieres syndrome 5. Case report and review of literature.
Markovic I, Jocic-Jakubi B, Milenkovic Z. Markovic I, et al. Neuroradiol J. 2023 Dec;36(6):740-745. doi: 10.1177/19714009231154677. Epub 2023 Feb 1. Neuroradiol J. 2023. PMID: 36722173 Review.
Aicardi-Goutieres syndrome (AGS) is an autosomal recessive disease that mimics congenital viral infection and mainly affects the brain, immune system, and skin. ...By reviewing the available literature, we were able to find only one patient whose arterial les
Aicardi-Goutieres syndrome (AGS) is an autosomal recessive disease that mimics congenital viral infection and mainly af
Microglia responses to interleukin-6 and type I interferons in neuroinflammatory disease.
West PK, Viengkhou B, Campbell IL, Hofer MJ. West PK, et al. Glia. 2019 Oct;67(10):1821-1841. doi: 10.1002/glia.23634. Epub 2019 Apr 29. Glia. 2019. PMID: 31033014 Review.
They sense and respond to the local production of many different signals, including an assorted range of cytokines. Microglia respond strongly to interleukin-6 (IL-6) and members of the type I interferon (IFN-I) family, IFN-alpha (IFN-alpha), and IFN-beta (IFN-beta) …
They sense and respond to the local production of many different signals, including an assorted range of cytokines. Microglia respond strong …
Movement disorders in ADAR1 disease: Insights from a comprehensive cohort.
Di Lazzaro G, Graziola F, Sancesario A, Insalaco A, Moneta GM, Castelli E, Bertini E, Travaglini L, Stregapede F, Capuano A, Vasco G, Schirinzi T. Di Lazzaro G, et al. Parkinsonism Relat Disord. 2020 Oct;79:100-104. doi: 10.1016/j.parkreldis.2020.08.039. Epub 2020 Aug 30. Parkinsonism Relat Disord. 2020. PMID: 32911246 Review.
ADAR1 variants are associated to rare and heterogenous neurological conditions, including Aicardi-Goutieres syndrome type 6, bilateral striatal necrosis, and dyschromatosis symmetrica hereditaria. ...
ADAR1 variants are associated to rare and heterogenous neurological conditions, including Aicardi-Goutieres syndrome ty …
Stiff person syndrome and other immune-mediated movement disorders - new insights.
Balint B, Bhatia KP. Balint B, et al. Curr Opin Neurol. 2016 Aug;29(4):496-506. doi: 10.1097/WCO.0000000000000351. Curr Opin Neurol. 2016. PMID: 27262149 Review.
Lastly, there is an interface of immunology, genetics and neurodegeneration, e.g. in Aicardi-Goutieres syndrome or the tauopathy with IgLON5-antibodies. SUMMARY: Clinicians should be aware of new antibodies such as dipeptidyl-peptidase-like protein-6, …
Lastly, there is an interface of immunology, genetics and neurodegeneration, e.g. in Aicardi-Goutieres syndrome or the …
ADAR RNA Modifications, the Epitranscriptome and Innate Immunity.
Quin J, Sedmík J, Vukić D, Khan A, Keegan LP, O'Connell MA. Quin J, et al. Trends Biochem Sci. 2021 Sep;46(9):758-771. doi: 10.1016/j.tibs.2021.02.002. Epub 2021 Mar 15. Trends Biochem Sci. 2021. PMID: 33736931 Free article. Review.
In humans, mutations giving reduced levels of one base modification, adenosine-to-inosine deamination, cause a viral infection mimic syndrome, a congenital encephalitis with aberrant interferon induction. These Aicardi-Goutieres syndrome 6 mutations af …
In humans, mutations giving reduced levels of one base modification, adenosine-to-inosine deamination, cause a viral infection mimic syndrom …
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutieres Syndrome and Beyond.
Livingston JH, Crow YJ. Livingston JH, et al. Neuropediatrics. 2016 Dec;47(6):355-360. doi: 10.1055/s-0036-1592307. Epub 2016 Sep 19. Neuropediatrics. 2016. PMID: 27643693 Review.
The Aicardi-Goutieres syndrome (AGS) was first described in 1984, and over the following years was defined by the clinical and radiological features of an early onset, severe, neurologic disorder with intracranial calcification, leukoencephalopathy, and cereb …
The Aicardi-Goutieres syndrome (AGS) was first described in 1984, and over the following years was defined by the clini …
Immunoinflammatory diseases of the central nervous system - the tale of two cytokines.
Hofer MJ, Campbell IL. Hofer MJ, et al. Br J Pharmacol. 2016 Feb;173(4):716-28. doi: 10.1111/bph.13175. Epub 2015 Jun 12. Br J Pharmacol. 2016. PMID: 25917268 Free PMC article. Review.
Here we review current evidence for the involvement of two different cytokines, IFN-alpha and IL-6, as principal mediators of specific immunoinflammatory disorders of the CNS. IFN-alpha belongs to the type I IFN family and is causally linked to the development of inflammat …
Here we review current evidence for the involvement of two different cytokines, IFN-alpha and IL-6, as principal mediators of specifi …
MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
Buers I, Rice GI, Crow YJ, Rutsch F. Buers I, et al. J Interferon Cytokine Res. 2017 May;37(5):214-219. doi: 10.1089/jir.2017.0004. J Interferon Cytokine Res. 2017. PMID: 28475458 Free PMC article. Review.
In 1984, Aicardi and Goutieres defined a phenotype resembling congenital viral infection with basal ganglia calcification and increased protein content in the cerebrospinal fluid. Between 2006 and 2012, mutations in 6 different genes were described to be associated with …
In 1984, Aicardi and Goutieres defined a phenotype resembling congenital viral infection with basal ganglia calcification and increased prot …
[Clinical and genetic analysis of a family with Aicardi-Goutieres syndrome and literature review].
Ji T, Wang J, Li H, Zhao L, Sang Y, Wu Y. Ji T, et al. Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):822-7. Zhonghua Er Ke Za Zhi. 2014. PMID: 25582466 Review. Chinese.
OBJECTIVE: Aicardi-Goutieres syndrome (AGS) is a rare early-onset genetic encephalopathy. ...And we reviewed the reports of 252 cases. RESULT: (1) The proband was a 6 years plus 7 months old boy. He presented with severe developmental delay and abnorma …
OBJECTIVE: Aicardi-Goutieres syndrome (AGS) is a rare early-onset genetic encephalopathy. ...And we reviewed the report …
18 results