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Page 1
Systemic complications of Aicardi Goutieres syndrome using real-world data.
Peixoto de Barcelos I, Jan AK, Modesti N, Woidill S, Gavazzi F, Isaacs D, D'Aiello R, Sevagamoorthy A, Charlton L, Pizzino A, Schmidt J, van Haren K, Keller S, Eichler F, Emrick LT, Fraser JL, Shults J, Vanderver A, Adang LA. Peixoto de Barcelos I, et al. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108578. doi: 10.1016/j.ymgme.2024.108578. Epub 2024 Sep 15. Mol Genet Metab. 2024. PMID: 39332260 Free PMC article.
OBJECTIVE: Aicardi Goutieres Syndrome (AGS) is a rare genetic interferonopathy associated with diverse multisystemic complications. ...RESULTS: The genotype frequency in the natural history cohort was TREX1 (n = 26, 15.6 %), RNASEH2B (n = 50, 29.9 %), …
OBJECTIVE: Aicardi Goutieres Syndrome (AGS) is a rare genetic interferonopathy associated with diverse multisystemic co …
JAK Inhibition in Aicardi-Goutieres Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Frémond ML, Hully M, Fournier B, Barrois R, Lévy R, Aubart M, Castelle M, Chabalier D, Gins C, Sarda E, Al Adba B, Couderc S, D' Almeida C, Berat CM, Durrleman C, Espil C, Lambert L, Méni C, Périvier M, Pillet P, Polivka L, Schiff M, Todosi C, Uettwiller F, Lepelley A, Rice GI, Seabra L, Sanquer S, Hulin A, Pressiat C, Goldwirt L, Bondet V, Duffy D, Moshous D, Bader-Meunier B, Bodemer C, Robin-Renaldo F, Boddaert N, Blanche S, Desguerre I, Crow YJ, Neven B. Frémond ML, et al. J Clin Immunol. 2023 Aug;43(6):1436-1447. doi: 10.1007/s10875-023-01500-z. Epub 2023 May 12. J Clin Immunol. 2023. PMID: 37171742 Free PMC article.
The paradigm type I interferonopathy Aicardi-Goutieres syndrome (AGS) is most typically characterized by severe neurological involvement. ...
The paradigm type I interferonopathy Aicardi-Goutieres syndrome (AGS) is most typically characterized by severe neurolo …
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Rice GI, et al. Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Lancet Neurol. 2013. PMID: 24183309 Free PMC article.
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). ...FINDINGS: 74 (90%) of 82 patients had a positive interferon score (median 12.90, IQR …
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1 …
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez… See abstract for full author list ➔ Crow YJ, et al. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Aicardi-Goutieres syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. ...On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coheren …
Aicardi-Goutieres syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, R …
Acetylation Blocks cGAS Activity and Inhibits Self-DNA-Induced Autoimmunity.
Dai J, Huang YJ, He X, Zhao M, Wang X, Liu ZS, Xue W, Cai H, Zhan XY, Huang SY, He K, Wang H, Wang N, Sang Z, Li T, Han QY, Mao J, Diao X, Song N, Chen Y, Li WH, Man JH, Li AL, Zhou T, Liu ZG, Zhang XM, Li T. Dai J, et al. Cell. 2019 Mar 7;176(6):1447-1460.e14. doi: 10.1016/j.cell.2019.01.016. Epub 2019 Feb 21. Cell. 2019. PMID: 30799039 Free PMC article.
Finally, we demonstrate that aspirin can effectively suppress self-DNA-induced autoimmunity in Aicardi-Goutieres syndrome (AGS) patient cells and in an AGS mouse model. Thus, our study reveals that acetylation contributes to cGAS activity regulation and provi …
Finally, we demonstrate that aspirin can effectively suppress self-DNA-induced autoimmunity in Aicardi-Goutieres syndrome …
Hepatic Involvement in Aicardi-Goutieres Syndrome.
Gavazzi F, Cross ZM, Woidill S, McMann JM, Rand EB, Takanohashi A, Ulrick N, Shults J, Vanderver AL, Adang L. Gavazzi F, et al. Neuropediatrics. 2021 Dec;52(6):441-447. doi: 10.1055/s-0040-1722673. Epub 2021 Jan 14. Neuropediatrics. 2021. PMID: 33445189 Free PMC article.
Aicardi-Goutieres syndrome (AGS) is a monogenic type-I interferonopathy that results in neurologic injury. ...
Aicardi-Goutieres syndrome (AGS) is a monogenic type-I interferonopathy that results in neurologic injury. ...
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 Free PMC article. 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 …
ADAR1 prevents autoinflammation by suppressing spontaneous ZBP1 activation.
de Reuver R, Verdonck S, Dierick E, Nemegeer J, Hessmann E, Ahmad S, Jans M, Blancke G, Van Nieuwerburgh F, Botzki A, Vereecke L, van Loo G, Declercq W, Hur S, Vandenabeele P, Maelfait J. de Reuver R, et al. Nature. 2022 Jul;607(7920):784-789. doi: 10.1038/s41586-022-04974-w. Epub 2022 Jul 20. Nature. 2022. PMID: 35859175
In humans, reduced ADAR1 activity causes the severe inflammatory disease Aicardi-Goutieres syndrome (AGS)(2). In mice, complete loss of ADAR1 activity is embryonically lethal(3-6), and mutations similar to those found in patients with AGS cause autoinf …
In humans, reduced ADAR1 activity causes the severe inflammatory disease Aicardi-Goutieres syndrome (AGS)(2). In mice, …
Incidence of Aicardi-Goutieres syndrome and KCNT1-related epilepsy in Denmark.
Møller RS, Zhao L, Shoaff JR, Duno M, Andersen BN, Nguyen V, Fang TC, Kupelian V, Thorén R. Møller RS, et al. Mol Genet Metab Rep. 2022 Oct 13;33:100924. doi: 10.1016/j.ymgmr.2022.100924. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36262748 Free PMC article.
OBJECTIVE: To estimate the incidence of Aicardi-Goutieres syndrome (AGS) and potassium sodium-activated channel subfamily T member 1 (KCNT1)-related epilepsy in Denmark and to characterize the patients diagnosed with AGS and KCNT1-related epilepsy. ...A total …
OBJECTIVE: To estimate the incidence of Aicardi-Goutieres syndrome (AGS) and potassium sodium-activated channel subfami …
152 results