505 related articles for article (PubMed ID: 14726016)
1. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.
Lehmann AR
Biochimie; 2003 Nov; 85(11):1101-11. PubMed ID: 14726016
[TBL] [Abstract][Full Text] [Related]
2. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
Kraemer KH; Patronas NJ; Schiffmann R; Brooks BP; Tamura D; DiGiovanna JJ
Neuroscience; 2007 Apr; 145(4):1388-96. PubMed ID: 17276014
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 18470933
[TBL] [Abstract][Full Text] [Related]
4. Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription.
Berneburg M; Lehmann AR
Adv Genet; 2001; 43():71-102. PubMed ID: 11037299
[TBL] [Abstract][Full Text] [Related]
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; 59(14):3489-94. PubMed ID: 10416615
[TBL] [Abstract][Full Text] [Related]
6. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
Graham JM; Anyane-Yeboa K; Raams A; Appeldoorn E; Kleijer WJ; Garritsen VH; Busch D; Edersheim TG; Jaspers NG
Am J Hum Genet; 2001 Aug; 69(2):291-300. PubMed ID: 11443545
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
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. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.
Riou L; Zeng L; Chevallier-Lagente O; Stary A; Nikaido O; Taïeb A; Weeda G; Mezzina M; Sarasin A
Hum Mol Genet; 1999 Jun; 8(6):1125-33. PubMed ID: 10332046
[TBL] [Abstract][Full Text] [Related]
16. Cancer in xeroderma pigmentosum and related disorders of DNA repair.
Cleaver JE
Nat Rev Cancer; 2005 Jul; 5(7):564-73. PubMed ID: 16069818
[TBL] [Abstract][Full Text] [Related]
17. 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; 110(3):E212-20. PubMed ID: 23267107
[TBL] [Abstract][Full Text] [Related]
18. Xeroderma pigmentosum and molecular cloning of DNA repair genes.
Boulikas T
Anticancer Res; 1996; 16(2):693-708. PubMed ID: 8687116
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 15650764
[TBL] [Abstract][Full Text] [Related]
20. The 14th Datta Lecture. TFIIH: from transcription to clinic.
Egly JM
FEBS Lett; 2001 Jun; 498(2-3):124-8. PubMed ID: 11412842
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]