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2. 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; 7(12):1990-8. PubMed ID: 18817897 [TBL] [Abstract][Full Text] [Related]
3. 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; 11(12):942-50. PubMed ID: 23083890 [TBL] [Abstract][Full Text] [Related]
4. TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription. Singh A; Compe E; Le May N; Egly JM Am J Hum Genet; 2015 Feb; 96(2):194-207. PubMed ID: 25620205 [TBL] [Abstract][Full Text] [Related]
6. Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage. Oh KS; Imoto K; Boyle J; Khan SG; Kraemer KH DNA Repair (Amst); 2007 Sep; 6(9):1359-70. PubMed ID: 17509950 [TBL] [Abstract][Full Text] [Related]
7. Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts. Theil AF; Nonnekens J; Wijgers N; Vermeulen W; Giglia-Mari G Mol Cell Biol; 2011 Sep; 31(17):3630-8. PubMed ID: 21730288 [TBL] [Abstract][Full Text] [Related]
8. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Weeda G; Eveno E; Donker I; Vermeulen W; Chevallier-Lagente O; Taïeb A; Stary A; Hoeijmakers JH; Mezzina M; Sarasin A Am J Hum Genet; 1997 Feb; 60(2):320-9. PubMed ID: 9012405 [TBL] [Abstract][Full Text] [Related]
9. 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; 10(7):697-713. PubMed ID: 21571596 [TBL] [Abstract][Full Text] [Related]
10. Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum. Cleaver JE J Dermatol Sci; 2000 May; 23(1):1-11. PubMed ID: 10699759 [TBL] [Abstract][Full Text] [Related]
11. 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; 59(14):3489-94. PubMed ID: 10416615 [TBL] [Abstract][Full Text] [Related]
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; 98(4):627-42. PubMed ID: 26996949 [TBL] [Abstract][Full Text] [Related]
13. Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. Coin F; Bergmann E; Tremeau-Bravard A; Egly JM EMBO J; 1999 Mar; 18(5):1357-66. PubMed ID: 10064601 [TBL] [Abstract][Full Text] [Related]
14. Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPG. Schärer OD DNA Repair (Amst); 2008 Feb; 7(2):339-44. PubMed ID: 18077223 [TBL] [Abstract][Full Text] [Related]
15. Reduced levels of prostaglandin I 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; 118(26):. PubMed ID: 34155103 [TBL] [Abstract][Full Text] [Related]
16. 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; 22(7):486-9. PubMed ID: 23800062 [TBL] [Abstract][Full Text] [Related]
17. Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. Queille S; Drougard C; Sarasin A; Daya-Grosjean L J Invest Dermatol; 2001 Nov; 117(5):1162-70. PubMed ID: 11710928 [TBL] [Abstract][Full Text] [Related]
18. 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; 20(6):626-31. PubMed ID: 22234153 [TBL] [Abstract][Full Text] [Related]
19. 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; 94(16):8658-63. PubMed ID: 9238033 [TBL] [Abstract][Full Text] [Related]
20. 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; 10(22):2539-47. PubMed ID: 11709541 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]