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Journal Abstract Search

173 related items for PubMed ID: 23046824

  • 1. Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models.
    van de Ven M, Andressoo JO, van der Horst GT, Hoeijmakers JH, Mitchell JR.
    DNA Repair (Amst); 2012 Nov 01; 11(11):874-83. PubMed ID: 23046824
    [Abstract] [Full Text] [Related]

  • 2. Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
    Schäfer A, Gratchev A, Seebode C, Hofmann L, Schubert S, Laspe P, Apel A, Ohlenbusch A, Tzvetkov M, Weishaupt C, Oji V, Schön MP, Emmert S.
    Exp Dermatol; 2013 Jul 01; 22(7):486-9. PubMed ID: 23800062
    [Abstract] [Full Text] [Related]

  • 3. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
    de Boer J, van Steeg H, Berg RJ, Garssen J, de Wit J, van Oostrum CT, Beems RB, van der Horst GT, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH, Weeda G.
    Cancer Res; 1999 Jul 15; 59(14):3489-94. PubMed ID: 10416615
    [Abstract] [Full Text] [Related]

  • 4. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
    Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.
    Hum Mutat; 2008 Oct 15; 29(10):1194-208. PubMed ID: 18470933
    [Abstract] [Full Text] [Related]

  • 5. Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.
    Nishiwaki T, Kobayashi N, Iwamoto T, Yamamoto A, Sugiura S, Liu YC, Sarasin A, Okahashi Y, Hirano M, Ueno S, Mori T.
    DNA Repair (Amst); 2008 Dec 01; 7(12):1990-8. PubMed ID: 18817897
    [Abstract] [Full Text] [Related]

  • 6. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
    Andressoo JO, Mitchell JR, de Wit J, Hoogstraten D, Volker M, Toussaint W, Speksnijder E, Beems RB, van Steeg H, Jans J, de Zeeuw CI, Jaspers NG, Raams A, Lehmann AR, Vermeulen W, Hoeijmakers JH, van der Horst GT.
    Cancer Cell; 2006 Aug 01; 10(2):121-32. PubMed ID: 16904611
    [Abstract] [Full Text] [Related]

  • 7. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
    Botta E, Nardo T, Broughton BC, Marinoni S, Lehmann AR, Stefanini M.
    Am J Hum Genet; 1998 Oct 01; 63(4):1036-48. PubMed ID: 9758621
    [Abstract] [Full Text] [Related]

  • 8. Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
    Zhou X, Khan SG, Tamura D, Ueda T, Boyle J, Compe E, Egly JM, DiGiovanna JJ, Kraemer KH.
    Eur J Hum Genet; 2013 Aug 01; 21(8):831-7. PubMed ID: 23232694
    [Abstract] [Full Text] [Related]

  • 9. Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.
    Andressoo JO, Jans J, de Wit J, Coin F, Hoogstraten D, van de Ven M, Toussaint W, Huijmans J, Thio HB, van Leeuwen WJ, de Boer J, Egly JM, Hoeijmakers JH, van der Horst GT, Mitchell JR.
    PLoS Biol; 2006 Oct 01; 4(10):e322. PubMed ID: 17020410
    [Abstract] [Full Text] [Related]

  • 10. A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
    Falik-Zaccai TC, Erel-Segal R, Horev L, Bitterman-Deutsch O, Koka S, Chaim S, Keren Z, Kalfon L, Gross B, Segal Z, Orgal S, Shoval Y, Slor H, Spivak G, Hanawalt PC.
    Environ Mol Mutagen; 2012 Aug 01; 53(7):505-14. PubMed ID: 22826098
    [Abstract] [Full Text] [Related]

  • 11. Codominance associated with overexpression of certain XPD mutations.
    Kadkhodayan S, Coin F, Salazar EP, George JW, Egly JM, Thompson LH.
    Mutat Res; 2001 Mar 07; 485(2):153-68. PubMed ID: 11182546
    [Abstract] [Full Text] [Related]

  • 12. XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.
    Fan L, Fuss JO, Cheng QJ, Arvai AS, Hammel M, Roberts VA, Cooper PK, Tainer JA.
    Cell; 2008 May 30; 133(5):789-800. PubMed ID: 18510924
    [Abstract] [Full Text] [Related]

  • 13. Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.
    Ueda T, Compe E, Catez P, Kraemer KH, Egly JM.
    J Exp Med; 2009 Dec 21; 206(13):3031-46. PubMed ID: 19934020
    [Abstract] [Full Text] [Related]

  • 14. Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality.
    de Boer J, Donker I, de Wit J, Hoeijmakers JH, Weeda G.
    Cancer Res; 1998 Jan 01; 58(1):89-94. PubMed ID: 9426063
    [Abstract] [Full Text] [Related]

  • 15. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
    Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR.
    Proc Natl Acad Sci U S A; 1997 Aug 05; 94(16):8658-63. PubMed ID: 9238033
    [Abstract] [Full Text] [Related]

  • 16. Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.
    Armelini MG, Muotri AR, Marchetto MC, de Lima-Bessa KM, Sarasin A, Menck CF.
    Cancer Gene Ther; 2005 Apr 05; 12(4):389-96. PubMed ID: 15650764
    [Abstract] [Full Text] [Related]

  • 17. The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.
    Berneburg M, Clingen PH, Harcourt SA, Lowe JE, Taylor EM, Green MH, Krutmann J, Arlett CF, Lehmann AR.
    Cancer Res; 2000 Jan 15; 60(2):431-8. PubMed ID: 10667598
    [Abstract] [Full Text] [Related]

  • 18. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
    Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR.
    Hum Mol Genet; 2001 Oct 15; 10(22):2539-47. PubMed ID: 11709541
    [Abstract] [Full Text] [Related]

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  • 20. Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology.
    Jaarsma D, van der Pluijm I, de Waard MC, Haasdijk ED, Brandt R, Vermeij M, Rijksen Y, Maas A, van Steeg H, Hoeijmakers JH, van der Horst GT.
    PLoS Genet; 2011 Dec 15; 7(12):e1002405. PubMed ID: 22174697
    [Abstract] [Full Text] [Related]

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