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2008 2
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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 …
Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutieres syndrome.
Dell'Isola GB, Dini G, Culpepper KL, Portwood KE, Ferrara P, Di Cara G, Verrotti A, Lodolo M. Dell'Isola GB, et al. World J Pediatr. 2023 Jul;19(7):635-643. doi: 10.1007/s12519-022-00679-2. Epub 2023 Jan 17. World J Pediatr. 2023. PMID: 36650407 Free PMC article. Review.
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is a genetically determined disorder with a variable phenotype. ...
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is a genetically determined disorder with a variable phenotype. ...
Z-DNA and Z-RNA in human disease.
Herbert A. Herbert A. Commun Biol. 2019 Jan 7;2:7. doi: 10.1038/s42003-018-0237-x. eCollection 2019. Commun Biol. 2019. PMID: 30729177 Free PMC article. Review.
Loss-of-function mutations in ADAR p150 allow persistent activation of the interferon system by Alu dsRNAs and are causal for Aicardi-Goutieres Syndrome. Heterodimers of ADAR and DICER1 regulate the switch from RNA- to protein-centric immunity. ...
Loss-of-function mutations in ADAR p150 allow persistent activation of the interferon system by Alu dsRNAs and are causal for Aicardi
[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 …
Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.
Livingston JH, Stivaros S, Warren D, Crow YJ. Livingston JH, et al. Dev Med Child Neurol. 2014 Jul;56(7):612-26. doi: 10.1111/dmcn.12359. Epub 2013 Dec 30. Dev Med Child Neurol. 2014. PMID: 24372060 Free article. Review.
Congenital infection, particularly with cytomegalovirus, accounts for a significant proportion of all cases. However, some genetic diseases, in particular Aicardi-Goutieres syndrome, Band-like calcification, and RNASET2-related disease, may mimic congenital i …
Congenital infection, particularly with cytomegalovirus, accounts for a significant proportion of all cases. However, some genetic diseases, …
ADAR RNA editing in innate immune response phasing, in circadian clocks and in sleep.
Sinigaglia K, Wiatrek D, Khan A, Michalik D, Sambrani N, Sedmík J, Vukić D, O'Connell MA, Keegan LP. Sinigaglia K, et al. Biochim Biophys Acta Gene Regul Mech. 2019 Mar;1862(3):356-369. doi: 10.1016/j.bbagrm.2018.10.011. Epub 2018 Oct 31. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 30391332 Review.
ADAR1 edits cellular dsRNA to prevent aberrant activation of cytoplasmic antiviral dsRNA sensors; ADAR1 mutations lead to aberrant expression of interferon in Aicardi Goutieres syndrome (AGS), a human congenital encephalopathy. ...A study on Adar2 mutant mice …
ADAR1 edits cellular dsRNA to prevent aberrant activation of cytoplasmic antiviral dsRNA sensors; ADAR1 mutations lead to aberrant expressio …
What do editors do? Understanding the physiological functions of A-to-I RNA editing by adenosine deaminase acting on RNAs.
Heraud-Farlow JE, Walkley CR. Heraud-Farlow JE, et al. Open Biol. 2020 Jul;10(7):200085. doi: 10.1098/rsob.200085. Epub 2020 Jul 1. Open Biol. 2020. PMID: 32603639 Free PMC article. Review.
Furthermore, changes in RNA editing are associated with various pathological states, from the severe autoimmune disease Aicardi-Goutieres syndrome, to various neurodevelopmental and psychiatric conditions and cancer. ...
Furthermore, changes in RNA editing are associated with various pathological states, from the severe autoimmune disease Aicardi-Go
New roles for the major human 3'-5' exonuclease TREX1 in human disease.
Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP. Kavanagh D, et al. Cell Cycle. 2008 Jun 15;7(12):1718-25. doi: 10.4161/cc.7.12.6162. Epub 2008 Jun 16. Cell Cycle. 2008. PMID: 18583934 Free PMC article. Review.
Aicardi-Goutieres syndrome (AGS), Systemic Lupus Erythematosus (SLE), Familial Chilblain Lupus (FCL) and Retinal Vasculopathy and Cerebral Leukodystrophy (RVCL) {a new term encompassing three independently described conditions with a common etiology--Cerebror
Aicardi-Goutieres syndrome (AGS), Systemic Lupus Erythematosus (SLE), Familial Chilblain Lupus (FCL) and Retinal Vascul
Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?
Brooks PJ, Cheng TF, Cooper L. Brooks PJ, et al. DNA Repair (Amst). 2008 Jun 1;7(6):834-48. doi: 10.1016/j.dnarep.2008.01.017. Epub 2008 Mar 12. DNA Repair (Amst). 2008. PMID: 18339586 Free PMC article. Review.
This model was originally put forth to explain the dramatic loss of neurons observed in patients with xeroderma pigmentosum neurologic disease, and is likely to be valid for other neurodegenerative diseases due to mutations in DNA repair genes. However, in trichiothiodystrophy (T …
This model was originally put forth to explain the dramatic loss of neurons observed in patients with xeroderma pigmentosum neurologic disea …
12 results