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    Results: 1 to 20 of 32

    1.

    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.

    PMID:
    23408864
    [PubMed - indexed for MEDLINE]
    2.

    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
    [PubMed - indexed for MEDLINE]
    3.

    Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction.

    Beloglazova N, Flick R, Tchigvintsev A, Brown G, Popovic A, Nocek B, Yakunin AF.

    J Biol Chem. 2013 Mar 22;288(12):8101-10. doi: 10.1074/jbc.M112.431148. Epub 2013 Jan 30.

    PMID:
    23364794
    [PubMed - indexed for MEDLINE]
    4.

    RNase H2 roles in genome integrity revealed by unlinking its activities.

    Chon H, Sparks JL, Rychlik M, Nowotny M, Burgers PM, Crouch RJ, Cerritelli SM.

    Nucleic Acids Res. 2013 Mar 1;41(5):3130-43. doi: 10.1093/nar/gkt027. Epub 2013 Jan 25.

    PMID:
    23355612
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Recognizable phenotypes associated with intracranial calcification.

    Livingston JH, Stivaros S, van der Knaap MS, Crow YJ.

    Dev Med Child Neurol. 2013 Jan;55(1):46-57. doi: 10.1111/j.1469-8749.2012.04437.x. Epub 2012 Nov 1.

    PMID:
    23121296
    [PubMed - indexed for MEDLINE]
    6.

    SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cells.

    Descours B, Cribier A, Chable-Bessia C, Ayinde D, Rice G, Crow Y, Yatim A, Schwartz O, Laguette N, Benkirane M.

    Retrovirology. 2012 Oct 23;9:87. doi: 10.1186/1742-4690-9-87.

    PMID:
    23092122
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

    Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ.

    Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.

    PMID:
    23001123
    [PubMed - indexed for MEDLINE]
    8.

    SAMHD1 restricts HIV-1 infection in resting CD4(+) T cells.

    Baldauf HM, Pan X, Erikson E, Schmidt S, Daddacha W, Burggraf M, Schenkova K, Ambiel I, Wabnitz G, Gramberg T, Panitz S, Flory E, Landau NR, Sertel S, Rutsch F, Lasitschka F, Kim B, König R, Fackler OT, Keppler OT.

    Nat Med. 2012 Nov;18(11):1682-7. doi: 10.1038/nm.2964.

    PMID:
    22972397
    [PubMed - indexed for MEDLINE]
    9.

    SAMHD1: a novel antiviral factor in intrinsic immunity.

    Chen Z, Zhang L, Ying S.

    Future Microbiol. 2012 Sep;7(9):1117-26. doi: 10.2217/fmb.12.81. Review.

    PMID:
    22953710
    [PubMed - indexed for MEDLINE]
    10.

    The genetics of type I interferon in systemic lupus erythematosus.

    Bronson PG, Chaivorapol C, Ortmann W, Behrens TW, Graham RR.

    Curr Opin Immunol. 2012 Oct;24(5):530-7. doi: 10.1016/j.coi.2012.07.008. Epub 2012 Aug 10. Review.

    PMID:
    22889593
    [PubMed - indexed for MEDLINE]
    11.

    A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.

    Ostergaard E, Joensen F, Sundberg K, Duno M, Hansen FJ, Batbayli M, Sørensen N, Born AP.

    Acta Paediatr. 2012 Nov;101(11):e509-13. doi: 10.1111/j.1651-2227.2012.02807.x. Epub 2012 Sep 5.

    PMID:
    22882256
    [PubMed - indexed for MEDLINE]
    12.

    Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.

    Abe J, Izawa K, Nishikomori R, Awaya T, Kawai T, Yasumi T, Hiragi N, Hiragi T, Ohshima Y, Heike T.

    Rheumatology (Oxford). 2013 Feb;52(2):406-8. doi: 10.1093/rheumatology/kes181. Epub 2012 Jul 23. No abstract available.

    PMID:
    22829693
    [PubMed - indexed for MEDLINE]
    13.

    Aicardi-Goutières syndrome with emphasis on sonographic features in infancy.

    Rossler L, Ludwig-Seibold C, Thiels Ch, Schaper J.

    Pediatr Radiol. 2012 Aug;42(8):932-40. doi: 10.1007/s00247-012-2384-4. Epub 2012 May 26.

    PMID:
    22639057
    [PubMed - indexed for MEDLINE]
    14.

    Polymorphisms of the SAMHD1 gene are not associated with the infection and natural control of HIV type 1 in Europeans and African-Americans.

    Coon S, Wang D, Wu L.

    AIDS Res Hum Retroviruses. 2012 Dec;28(12):1565-73. doi: 10.1089/AID.2012.0039. Epub 2012 Jun 1.

    PMID:
    22530776
    [PubMed - indexed for MEDLINE]
    15.

    SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.

    Goncalves A, Karayel E, Rice GI, Bennett KL, Crow YJ, Superti-Furga G, Bürckstümmer T.

    Hum Mutat. 2012 Jul;33(7):1116-22. doi: 10.1002/humu.22087. Epub 2012 Apr 16.

    PMID:
    22461318
    [PubMed - indexed for MEDLINE]
    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
    [PubMed - indexed for MEDLINE]
    17.

    Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

    Tüngler V, Silver RM, Walkenhorst H, Günther C, Lee-Kirsch MA.

    Br J Dermatol. 2012 Jul;167(1):212-4. doi: 10.1111/j.1365-2133.2012.10813.x. No abstract available.

    PMID:
    22356656
    [PubMed - indexed for MEDLINE]
    18.

    SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection.

    Berger A, Sommer AF, Zwarg J, Hamdorf M, Welzel K, Esly N, Panitz S, Reuter A, Ramos I, Jatiani A, Mulder LC, Fernandez-Sesma A, Rutsch F, Simon V, König R, Flory E.

    PLoS Pathog. 2011 Dec;7(12):e1002425. doi: 10.1371/journal.ppat.1002425. Epub 2011 Dec 8.

    PMID:
    22174685
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    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
    [PubMed - indexed for MEDLINE]
    20.

    COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

    Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y.

    Neuropediatrics. 2011 Dec;42(6):227-33. doi: 10.1055/s-0031-1295493. Epub 2011 Dec 1.

    PMID:
    22134833
    [PubMed - indexed for MEDLINE]

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