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Journal Abstract Search

283 related items for PubMed ID: 23232694

  • 1. 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; 21(8):831-7. PubMed ID: 23232694
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  • 2. 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; 29(10):1194-208. PubMed ID: 18470933
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  • 3. 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
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  • 6. Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
    Tamura D, Khan SG, Merideth M, DiGiovanna JJ, Tucker MA, Goldstein AM, Oh KS, Ueda T, Boyle J, Sarihan M, Kraemer KH.
    Eur J Hum Genet; 2012 Dec 01; 20(12):1308-10. PubMed ID: 22617342
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  • 7. Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.
    Moslehi R, Kumar A, Mills JL, Ambroggio X, Signore C, Dzutsev A.
    Eur J Hum Genet; 2012 Jun 01; 20(6):626-31. PubMed ID: 22234153
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  • 8. TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
    Lanzafame M, Nardo T, Ricotti R, Pantaleoni C, D'Arrigo S, Stanzial F, Benedicenti F, Thomas MA, Stefanini M, Orioli D, Botta E.
    Hum Mutat; 2022 Dec 01; 43(12):2222-2233. PubMed ID: 36259739
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  • 10. 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
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  • 12. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
    Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M.
    Am J Hum Genet; 2016 Apr 07; 98(4):627-42. PubMed ID: 26996949
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  • 14. XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase.
    Fuss JO, Tainer JA.
    DNA Repair (Amst); 2011 Jul 15; 10(7):697-713. PubMed ID: 21571596
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  • 15. TFIIH mutations can impact on translational fidelity of the ribosome.
    Khalid F, Phan T, Qiang M, Maity P, Lasser T, Wiese S, Penzo M, Alupei M, Orioli D, Scharffetter-Kochanek K, Iben S.
    Hum Mol Genet; 2023 Mar 20; 32(7):1102-1113. PubMed ID: 36308430
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  • 17. Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair.
    Zhu Q, Wani G, Sharma N, Wani A.
    DNA Repair (Amst); 2012 Dec 01; 11(12):942-50. PubMed ID: 23083890
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  • 18. Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy.
    Lombardi A, Arseni L, Carriero R, Compe E, Botta E, Ferri D, Uggè M, Biamonti G, Peverali FA, Bione S, Orioli D.
    Proc Natl Acad Sci U S A; 2021 Jun 29; 118(26):. PubMed ID: 34155103
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  • 19. 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 29; 63(4):1036-48. PubMed ID: 9758621
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  • 20. Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.
    Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM.
    Nat Genet; 1998 Oct 29; 20(2):184-8. PubMed ID: 9771713
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