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Items: 1 to 20 of 23

1.

Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome.

Klok MD, Bakels HS, Postma NL, van Spaendonk RM, van der Knaap MS, Bugiani M.

Ann Clin Transl Neurol. 2015 Jul;2(7):774-9. doi: 10.1002/acn3.213. Epub 2015 Jun 4.

2.

The danger model approach to the pathogenesis of the rheumatic diseases.

Pacheco-Tena C, González-Chávez SA.

J Immunol Res. 2015;2015:506089. doi: 10.1155/2015/506089. Epub 2015 Apr 20. Review.

3.

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, La Piana R, Uggetti C, Wang J, Gordisch-Dressman H, van der Knaap MS, Livingston JH.

J Child Neurol. 2015 Sep;30(10):1343-8. doi: 10.1177/0883073814562252. Epub 2014 Dec 22.

PMID:
25535058
4.

Interferon-α induces neurotoxicity through activation of the type I receptor and the GluN2A subunit of the NMDA receptor.

Kessing CF, Tyor WR.

J Interferon Cytokine Res. 2015 Apr;35(4):317-24. doi: 10.1089/jir.2014.0105. Epub 2014 Dec 17.

5.

The SLE transcriptome exhibits evidence of chronic endotoxin exposure and has widespread dysregulation of non-coding and coding RNAs.

Shi L, Zhang Z, Yu AM, Wang W, Wei Z, Akhter E, Maurer K, Costa Reis P, Song L, Petri M, Sullivan KE.

PLoS One. 2014 May 5;9(5):e93846. doi: 10.1371/journal.pone.0093846. eCollection 2014.

6.

Assessment of interferon-related biomarkers in Aicardi-Goutières 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.

Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30.

7.

Identification of two HIV inhibitors that also inhibit human RNaseH2.

Kim J, Yoon J, Ju M, Lee Y, Kim TH, Kim J, Sommer P, No Z, Cechetto J, Han SJ.

Mol Cells. 2013 Sep;36(3):212-8. doi: 10.1007/s10059-013-2348-z. Epub 2013 Sep 2.

8.

SAMHD1-dependent retroviral control and escape in mice.

Rehwinkel J, Maelfait J, Bridgeman A, Rigby R, Hayward B, Liberatore RA, Bieniasz PD, Towers GJ, Moita LF, Crow YJ, Bonthron DT, Reis e Sousa C.

EMBO J. 2013 Sep 11;32(18):2454-62. doi: 10.1038/emboj.2013.163. Epub 2013 Jul 19.

9.

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

Rice GI, Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ.

Hum Mutat. 2013 Aug;34(8):1066-70. doi: 10.1002/humu.22336. Epub 2013 May 13.

10.

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.

Takanohashi A, Prust M, Wang J, Gordish-Dressman H, Bloom M, Rice GI, Schmidt JL, Crow YJ, Lebon P, Kuijpers TW, Nagaraju K, Vanderver A.

Neurology. 2013 Mar 12;80(11):997-1002. doi: 10.1212/WNL.0b013e3182872694. Epub 2013 Feb 13.

11.

Transcriptional responses to loss of RNase H2 in Saccharomyces cerevisiae.

Arana ME, Kerns RT, Wharey L, Gerrish KE, Bushel PR, Kunkel TA.

DNA Repair (Amst). 2012 Dec 1;11(12):933-41. doi: 10.1016/j.dnarep.2012.09.006. Epub 2012 Oct 15.

12.

Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.

Connolly JJ, Hakonarson H.

J Biomed Biotechnol. 2012;2012:798924. doi: 10.1155/2012/798924. Epub 2012 May 10. Review.

13.

Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase.

Powell RD, Holland PJ, Hollis T, Perrino FW.

J Biol Chem. 2011 Dec 23;286(51):43596-600. doi: 10.1074/jbc.C111.317628. Epub 2011 Nov 7.

14.

Lenalidomide therapy in treatment-refractory cutaneous lupus erythematosus: histologic and circulating leukocyte profile and potential risk of a systemic lupus flare.

Braunstein I, Goodman NG, Rosenbach M, Okawa J, Shah A, Krathen M, Kovarik CL, Luning Prak E, Werth VP.

J Am Acad Dermatol. 2012 Apr;66(4):571-82. doi: 10.1016/j.jaad.2011.01.015. Epub 2011 Aug 6.

15.

Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.

Coffin SR, Hollis T, Perrino FW.

J Biol Chem. 2011 May 13;286(19):16984-91. doi: 10.1074/jbc.M111.228833. Epub 2011 Mar 16.

16.

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.

Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Nürnberg G, Frosch M, Kurlemann G, Roth J, Nürnberg P, Rutsch F.

Hum Mutat. 2010 Nov;31(11):E1836-50. doi: 10.1002/humu.21357.

17.

RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases.

Perrino FW, Harvey S, Shaban NM, Hollis T.

J Mol Med (Berl). 2009 Jan;87(1):25-30. doi: 10.1007/s00109-008-0422-3. Epub 2008 Nov 26.

18.

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.

Cell Cycle. 2008 Jun 15;7(12):1718-25. Epub 2008 Jun 16. Review.

19.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ.

Am J Hum Genet. 2007 Oct;81(4):713-25. Epub 2007 Sep 4.

20.

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ.

Am J Hum Genet. 2007 Apr;80(4):811-5. Epub 2007 Feb 19.

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