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    Results: 1 to 20 of 41

    1.

    Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells.

    Vélez-Cruz R, Zadorin AS, Coin F, Egly JM.

    Proc Natl Acad Sci U S A. 2013 Jan 15;110(3):E212-20. doi: 10.1073/pnas.1213076110. Epub 2012 Dec 24.

    PMID:
    23267107
    [PubMed - indexed for MEDLINE]
    2.

    Tethering of the conserved piggyBac transposase fusion protein CSB-PGBD3 to chromosomal AP-1 proteins regulates expression of nearby genes in humans.

    Gray LT, Fong KK, Pavelitz T, Weiner AM.

    PLoS Genet. 2012 Sep;8(9):e1002972. doi: 10.1371/journal.pgen.1002972. Epub 2012 Sep 27.

    PMID:
    23028371
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Cerebro-oculo-facio-skeletal syndrome.

    Rafique M, Zia S.

    J Coll Physicians Surg Pak. 2012 Sep;22(9):607-9. doi: 09.2012/JCPSP.607609.

    PMID:
    22980622
    [PubMed - indexed for MEDLINE]
    4.

    Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability.

    Batenburg NL, Mitchell TR, Leach DM, Rainbow AJ, Zhu XD.

    Nucleic Acids Res. 2012 Oct;40(19):9661-74. doi: 10.1093/nar/gks745. Epub 2012 Aug 16.

    PMID:
    22904069
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome.

    Andrade LN, Nathanson JL, Yeo GW, Menck CF, Muotri AR.

    Hum Mol Genet. 2012 Sep 1;21(17):3825-34. doi: 10.1093/hmg/dds211. Epub 2012 Jun 1.

    PMID:
    22661500
    [PubMed - indexed for MEDLINE]
    6.

    Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

    Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K.

    Nat Genet. 2012 May;44(5):593-7. doi: 10.1038/ng.2228.

    PMID:
    22466612
    [PubMed - indexed for MEDLINE]
    7.

    UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.

    Schwertman P, Lagarou A, Dekkers DH, Raams A, van der Hoek AC, Laffeber C, Hoeijmakers JH, Demmers JA, Fousteri M, Vermeulen W, Marteijn JA.

    Nat Genet. 2012 May;44(5):598-602. doi: 10.1038/ng.2230.

    PMID:
    22466611
    [PubMed - indexed for MEDLINE]
    8.

    Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

    Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T.

    Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229.

    PMID:
    22466610
    [PubMed - indexed for MEDLINE]
    9.

    An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress.

    Pascucci B, Lemma T, Iorio E, Giovannini S, Vaz B, Iavarone I, Calcagnile A, Narciso L, Degan P, Podo F, Roginskya V, Janjic BM, Van Houten B, Stefanini M, Dogliotti E, D'Errico M.

    Aging Cell. 2012 Jun;11(3):520-9. doi: 10.1111/j.1474-9726.2012.00815.x. Epub 2012 Apr 5.

    PMID:
    22404840
    [PubMed - indexed for MEDLINE]
    10.

    Interaction between the Cockayne syndrome B and p53 proteins: implications for aging.

    Frontini M, Proietti-De-Santis L.

    Aging (Albany NY). 2012 Feb;4(2):89-97. Review.

    PMID:
    22383384
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Cockayne syndrome, underlying molecular defects and p53.

    Berquist BR, Bohr VA.

    Cell Cycle. 2011 Dec 1;10(23):3997-8. doi: 10.4161/cc.10.23.18352. Epub 2011 Dec 1. No abstract available.

    PMID:
    22086111
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination.

    Latini P, Frontini M, Caputo M, Gregan J, Cipak L, Filippi S, Kumar V, Vélez-Cruz R, Stefanini M, Proietti-De-Santis L.

    Cell Cycle. 2011 Nov 1;10(21):3719-30. doi: 10.4161/cc.10.21.17905. Epub 2011 Nov 1.

    PMID:
    22032989
    [PubMed - indexed for MEDLINE]
    Free Article
    13.

    Brain vascular changes in Cockayne syndrome.

    Hayashi M, Miwa-Saito N, Tanuma N, Kubota M.

    Neuropathology. 2012 Apr;32(2):113-7. doi: 10.1111/j.1440-1789.2011.01241.x. Epub 2011 Jul 12.

    PMID:
    21749465
    [PubMed - indexed for MEDLINE]
    14.

    A comprehensive description of the severity groups in Cockayne syndrome.

    Natale V.

    Am J Med Genet A. 2011 May;155A(5):1081-95. doi: 10.1002/ajmg.a.33933. Epub 2011 Apr 7.

    PMID:
    21480477
    [PubMed - indexed for MEDLINE]
    15.

    Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.

    Zhang H, Gao J, Ye J, Gong Z, Gu X.

    Eur J Med Genet. 2011 Jul-Aug;54(4):e389-93. doi: 10.1016/j.ejmg.2011.03.012. Epub 2011 Apr 6.

    PMID:
    21477668
    [PubMed - indexed for MEDLINE]
    16.

    Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis.

    Abdel Ghaffar TY, Elsobky ES, Elsayed SM.

    Orphanet J Rare Dis. 2011 Apr 8;6:13. doi: 10.1186/1750-1172-6-13.

    PMID:
    21477313
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Defective resolution of pH2AX foci and enhanced DNA breakage in ionizing radiation-treated cockayne syndrome B cells.

    Ropolo M, Cappelli E, Foresta M, Poggi A, Proietti-De-Santis L, Frosina G.

    IUBMB Life. 2011 Apr;63(4):272-6. doi: 10.1002/iub.445. Epub 2011 Mar 24.

    PMID:
    21438118
    [PubMed - indexed for MEDLINE]
    18.

    Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.

    Ghai SJ, Shago M, Shroff M, Yoon G.

    Eur J Med Genet. 2011 May-Jun;54(3):272-6. doi: 10.1016/j.ejmg.2011.02.008. Epub 2011 Mar 2.

    PMID:
    21376145
    [PubMed - indexed for MEDLINE]
    19.

    Impaired repair of ionizing radiation-induced DNA damage in Cockayne syndrome cells.

    Cramers P, Verhoeven EE, Filon AR, Rockx DA, Santos SJ, van der Leer AA, Kleinjans JC, van Zeeland AA, Mullenders LH.

    Radiat Res. 2011 Apr;175(4):432-43. doi: 10.1667/RR1972.1. Epub 2011 Feb 7.

    PMID:
    21299404
    [PubMed - indexed for MEDLINE]
    20.

    High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.

    Khayat M, Hardouf H, Zlotogora J, Shalev SA.

    Am J Med Genet A. 2010 Dec;152A(12):3091-4. doi: 10.1002/ajmg.a.33746.

    PMID:
    21108394
    [PubMed - indexed for MEDLINE]

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