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Items: 1 to 20 of 193

1.

Chronic exposure of astrocytes to interferon-α reveals molecular changes related to Aicardi-Goutieres syndrome.

Cuadrado E, Jansen MH, Anink J, De Filippis L, Vescovi AL, Watts C, Aronica E, Hol EM, Kuijpers TW.

Brain. 2013 Jan;136(Pt 1):245-58. doi: 10.1093/brain/aws321.

PMID:
23365100
2.

Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.

Cuadrado E, Michailidou I, van Bodegraven EJ, Jansen MH, Sluijs JA, Geerts D, Couraud PO, De Filippis L, Vescovi AL, Kuijpers TW, Hol EM.

J Immunol. 2015 Apr 15;194(8):3623-33. doi: 10.4049/jimmunol.1401334. Epub 2015 Mar 13.

3.

Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.

Izzotti A, Longobardi M, Cartiglia C, Anzuini F, Arrigo P, Fazzi E, Orcesi S, Piana RL, Pulliero A.

J Child Neurol. 2012 Jan;27(1):51-60. doi: 10.1177/0883073811413582. Epub 2011 Aug 23.

PMID:
21862834
4.

Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing.

Pulliero A, Marengo B, Longobardi M, Fazzi E, Orcesi S, Olivieri I, Cereda C, Domenicotti C, Balottin U, Izzotti A.

Biochem Biophys Res Commun. 2013 Jan 18;430(3):957-62. doi: 10.1016/j.bbrc.2012.11.131. Epub 2012 Dec 19.

PMID:
23261460
5.

Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?

Fazzi E, Cattalini M, Orcesi S, Tincani A, Andreoli L, Balottin U, De Simone M, Fredi M, Facchetti F, Galli J, Giliani S, Izzotti A, Meini A, Olivieri I, Plebani A.

Autoimmun Rev. 2013 Feb;12(4):506-9. doi: 10.1016/j.autrev.2012.08.012. Epub 2012 Aug 24. Review.

PMID:
22940555
6.

Aicardi-Goutières syndrome (AGS).

Stephenson JB.

Eur J Paediatr Neurol. 2008 Sep;12(5):355-8. doi: 10.1016/j.ejpn.2007.11.010. Epub 2008 Mar 14. Review.

PMID:
18343173
7.

Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.

Ramantani G, Häusler M, Niggemann P, Wessling B, Guttmann H, Mull M, Tenbrock K, Lee-Kirsch MA.

J Child Neurol. 2011 Nov;26(11):1425-8. doi: 10.1177/0883073811408310. Epub 2011 Jun 13.

PMID:
21670392
8.

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

La Piana R, Uggetti C, Olivieri I, Tonduti D, Balottin U, Fazzi E, Orcesi S.

Am J Med Genet A. 2014 Mar;164A(3):815-9. doi: 10.1002/ajmg.a.36360. Epub 2013 Dec 20.

PMID:
24376015
9.

Aicardi-Goutières syndrome presenting with haematemesis in infancy.

Hall D, Rice GI, Akbar N, Meager A, Crow YJ, Lim MJ.

Acta Paediatr. 2009 Dec;98(12):2005-8. doi: 10.1111/j.1651-2227.2009.01454.x. Epub 2009 Sep 22.

PMID:
19775308
10.

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T.

Rheumatology (Oxford). 2014 Mar;53(3):448-58. doi: 10.1093/rheumatology/ket372. Epub 2013 Dec 3.

PMID:
24300241
11.

The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload.

Pulliero A, Fazzi E, Cartiglia C, Orcesi S, Balottin U, Uggetti C, La Piana R, Olivieri I, Galli J, Izzotti A.

Mutat Res. 2011 Dec 1;717(1-2):99-108. doi: 10.1016/j.mrfmmm.2011.03.018. Epub 2011 Apr 15.

PMID:
21524657
12.

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.

Olivieri I, Cattalini M, Tonduti D, La Piana R, Uggetti C, Galli J, Meini A, Tincani A, Moratto D, Fazzi E, Balottin U, Orcesi S.

Lupus. 2013 Sep;22(10):1064-9. doi: 10.1177/0961203313498800. Epub 2013 Aug 5.

PMID:
23918923
13.

Aicardi-Goutières syndrome.

Crow YJ.

Handb Clin Neurol. 2013;113:1629-35. doi: 10.1016/B978-0-444-59565-2.00031-9. Review.

PMID:
23622384
14.

Aicardi-Goutieres syndrome: from patients to genes and beyond.

Chahwan C, Chahwan R.

Clin Genet. 2012 May;81(5):413-20. doi: 10.1111/j.1399-0004.2011.01825.x. Epub 2012 Jan 8. Review.

PMID:
22149989
15.

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.

Cuadrado E, Vanderver A, Brown KJ, Sandza A, Takanohashi A, Jansen MH, Anink J, Herron B, Orcesi S, Olivieri I, Rice GI, Aronica E, Lebon P, Crow YJ, Hol EM, Kuijpers TW.

Ann Rheum Dis. 2015 Oct;74(10):1931-9. doi: 10.1136/annrheumdis-2014-205396. Epub 2014 Jun 6.

PMID:
24906636
16.

Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes.

Pulliero A, Marengo B, Domenicotti C, Longobardi MG, Fazzi E, Orcesi S, Bianchi M, Balottin U, Izzotti A.

Oncol Rep. 2012 May;27(5):1689-94. doi: 10.3892/or.2012.1696. Epub 2012 Feb 22.

PMID:
22367235
17.

Mouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity.

Behrendt R, Roers A.

Clin Exp Immunol. 2014 Jan;175(1):9-16. doi: 10.1111/cei.12147. Review.

18.

Therapies in Aicardi-Goutières syndrome.

Crow YJ, Vanderver A, Orcesi S, Kuijpers TW, Rice GI.

Clin Exp Immunol. 2014 Jan;175(1):1-8. doi: 10.1111/cei.12115. Review.

19.

Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature.

Lanzi G, Fazzi E, D'Arrigo S.

Eur J Paediatr Neurol. 2002;6 Suppl A:A9-22; discussion A23-5, A77-86.

PMID:
12365365
20.

Cutting Edge: cGAS Is Required for Lethal Autoimmune Disease in the Trex1-Deficient Mouse Model of Aicardi-Goutières Syndrome.

Gray EE, Treuting PM, Woodward JJ, Stetson DB.

J Immunol. 2015 Sep 1;195(5):1939-43. doi: 10.4049/jimmunol.1500969. Epub 2015 Jul 29.

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