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Items: 1 to 20 of 254

1.

Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.

Lee-Kirsch MA, Wolf C, Günther C.

Clin Exp Immunol. 2014 Jan;175(1):17-24. doi: 10.1111/cei.12160. Review.

2.

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.

3.

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
4.

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
5.

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
6.

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von Stülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA.

Arthritis Rheum. 2010 May;62(5):1469-77. doi: 10.1002/art.27367.

7.

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
8.

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
9.

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.

10.

Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.

Cattalini M, Galli J, Andreoli L, Olivieri I, Ariaudo G, Fredi M; IAGSA study group, Orcesi S, Tincani A, Fazzi E.

J Clin Immunol. 2016 Oct;36(7):693-9. doi: 10.1007/s10875-016-0325-y. Epub 2016 Aug 18.

PMID:
27539236
11.

AGS, SLE, and RNASEH2 mutations: translating insights into therapeutic advances.

Pendergraft WF 3rd, Means TK.

J Clin Invest. 2015 Jan;125(1):102-4. doi: 10.1172/JCI78533. Epub 2014 Dec 15.

12.

Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.

Lim YW, Sanz LA, Xu X, Hartono SR, Chédin F.

Elife. 2015 Jul 16;4. doi: 10.7554/eLife.08007.

13.

Innate immune processes in lupus erythematosus.

Aringer M, Günther C, Lee-Kirsch MA.

Clin Immunol. 2013 Jun;147(3):216-22. doi: 10.1016/j.clim.2012.11.012. Epub 2012 Dec 12. Review.

PMID:
23290784
14.

Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.

Li P, Du J, Goodier JL, Hou J, Kang J, Kazazian HH Jr, Zhao K, Yu XF.

Nucleic Acids Res. 2017 May 5;45(8):4619-4631. doi: 10.1093/nar/gkx178.

15.

Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.

Mackenzie KJ, Carroll P, Lettice L, Tarnauskaitė Ž, Reddy K, Dix F, Revuelta A, Abbondati E, Rigby RE, Rabe B, Kilanowski F, Grimes G, Fluteau A, Devenney PS, Hill RE, Reijns MA, Jackson AP.

EMBO J. 2016 Apr 15;35(8):831-44. doi: 10.15252/embj.201593339. Epub 2016 Feb 22.

16.

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

Crow YJ, Rehwinkel J.

Hum Mol Genet. 2009 Oct 15;18(R2):R130-6. doi: 10.1093/hmg/ddp293. Review.

17.
18.

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
19.

TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner.

Ablasser A, Hemmerling I, Schmid-Burgk JL, Behrendt R, Roers A, Hornung V.

J Immunol. 2014 Jun 15;192(12):5993-7. doi: 10.4049/jimmunol.1400737. Epub 2014 May 9.

20.

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

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