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Results: 1 to 20 of 1852

1.

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 1;7(12):1990-8. doi: 10.1016/j.dnarep.2008.08.009. Epub 2008 Oct 10.

PMID:
18817897
[PubMed - indexed for MEDLINE]
2.

Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome.

Chiganças V, Lima-Bessa KM, Stary A, Menck CF, Sarasin A.

Cancer Res. 2008 Aug 1;68(15):6074-83. doi: 10.1158/0008-5472.CAN-07-6695.

PMID:
18676829
[PubMed - indexed for MEDLINE]
Free Article
3.

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. doi: 10.1002/humu.20768.

PMID:
18470933
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts.

Nishiwaki Y, Kobayashi N, Imoto K, Iwamoto TA, Yamamoto A, Katsumi S, Shirai T, Sugiura S, Nakamura Y, Sarasin A, Miyagawa S, Mori T.

J Invest Dermatol. 2004 Feb;122(2):526-32.

PMID:
15009740
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
10416615
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

PMID:
9012405
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
10667598
[PubMed - indexed for MEDLINE]
Free Article
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;21(8):831-7. doi: 10.1038/ejhg.2012.246. Epub 2012 Dec 12.

PMID:
23232694
[PubMed - indexed for MEDLINE]
9.

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;12(4):389-96.

PMID:
15650764
[PubMed - indexed for MEDLINE]
10.

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. doi: 10.1128/MCB.01462-10. Epub 2011 Jul 5.

PMID:
21730288
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Prolonged p53 protein accumulation in trichothiodystrophy fibroblasts dependent on unrepaired pyrimidine dimers on the transcribed strands of cellular genes.

Dumaz N, Duthu A, Ehrhart JC, Drougard C, Appella E, Anderson CW, May P, Sarasin A, Daya-Grosjean L.

Mol Carcinog. 1997 Dec;20(4):340-7.

PMID:
9433478
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
11710928
[PubMed - indexed for MEDLINE]
Free Article
13.

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. Review.

PMID:
10699759
[PubMed - indexed for MEDLINE]
14.

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 1;11(12):942-50. doi: 10.1016/j.dnarep.2012.09.003. Epub 2012 Oct 17.

PMID:
23083890
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells.

Zhou NY, Bates SE, Bouziane M, Stary A, Sarasin A, O'Connor TR.

J Mol Biol. 2003 Sep 12;332(2):337-51.

PMID:
12948486
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
11709541
[PubMed - indexed for MEDLINE]
Free Article
17.

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.

Botta E, Nardo T, Orioli D, Guglielmino R, Ricotti R, Bondanza S, Benedicenti F, Zambruno G, Stefanini M.

Hum Mutat. 2009 Mar;30(3):438-45. doi: 10.1002/humu.20912.

PMID:
19085937
[PubMed - indexed for MEDLINE]
18.

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;63(4):1036-48.

PMID:
9758621
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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. doi: 10.1016/j.dnarep.2011.04.028. Epub 2011 May 14. Review.

PMID:
21571596
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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 1;18(5):1357-66.

PMID:
10064601
[PubMed - indexed for MEDLINE]
Free PMC Article

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