245 related articles for article (PubMed ID: 19953607)
1. XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
Khan SG; Yamanegi K; Zheng ZM; Boyle J; Imoto K; Oh KS; Baker CC; Gozukara E; Metin A; Kraemer KH
Hum Mutat; 2010 Feb; 31(2):167-75. PubMed ID: 19953607
[TBL] [Abstract][Full Text] [Related]
2. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
Khan SG; Metin A; Gozukara E; Inui H; Shahlavi T; Muniz-Medina V; Baker CC; Ueda T; Aiken JR; Schneider TD; Kraemer KH
Hum Mol Genet; 2004 Feb; 13(3):343-52. PubMed ID: 14662655
[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. 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]
5. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Khan SG; Oh KS; Shahlavi T; Ueda T; Busch DB; Inui H; Emmert S; Imoto K; Muniz-Medina V; Baker CC; DiGiovanna JJ; Schmidt D; Khadavi A; Metin A; Gozukara E; Slor H; Sarasin A; Kraemer KH
Carcinogenesis; 2006 Jan; 27(1):84-94. PubMed ID: 16081512
[TBL] [Abstract][Full Text] [Related]
6. Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells.
Oh KS; Imoto K; Emmert S; Tamura D; DiGiovanna JJ; Kraemer KH
Photochem Photobiol; 2011; 87(3):729-33. PubMed ID: 21388382
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
Chavanne F; Broughton BC; Pietra D; Nardo T; Browitt A; Lehmann AR; Stefanini M
Cancer Res; 2000 Apr; 60(7):1974-82. PubMed ID: 10766188
[TBL] [Abstract][Full Text] [Related]
8. The UV-damaged DNA binding protein mediates efficient targeting of the nucleotide excision repair complex to UV-induced photo lesions.
Moser J; Volker M; Kool H; Alekseev S; Vrieling H; Yasui A; van Zeeland AA; Mullenders LH
DNA Repair (Amst); 2005 May; 4(5):571-82. PubMed ID: 15811629
[TBL] [Abstract][Full Text] [Related]
9. Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
Khan SG; Levy HL; Legerski R; Quackenbush E; Reardon JT; Emmert S; Sancar A; Li L; Schneider TD; Cleaver JE; Kraemer KH
J Invest Dermatol; 1998 Nov; 111(5):791-6. PubMed ID: 9804340
[TBL] [Abstract][Full Text] [Related]
10. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
Khan SG; Oh KS; Emmert S; Imoto K; Tamura D; Digiovanna JJ; Shahlavi T; Armstrong N; Baker CC; Neuburg M; Zalewski C; Brewer C; Wiggs E; Schiffmann R; Kraemer KH
DNA Repair (Amst); 2009 Jan; 8(1):114-25. PubMed ID: 18955168
[TBL] [Abstract][Full Text] [Related]
11. In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation.
Yasuda G; Nishi R; Watanabe E; Mori T; Iwai S; Orioli D; Stefanini M; Hanaoka F; Sugasawa K
Mol Cell Biol; 2007 Oct; 27(19):6606-14. PubMed ID: 17682058
[TBL] [Abstract][Full Text] [Related]
12. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.
Gozukara EM; Khan SG; Metin A; Emmert S; Busch DB; Shahlavi T; Coleman DM; Miller M; Chinsomboon N; Stefanini M; Kraemer KH
J Invest Dermatol; 2001 Aug; 117(2):197-204. PubMed ID: 11511294
[TBL] [Abstract][Full Text] [Related]
13. Ubiquitin-specific protease 7 regulates nucleotide excision repair through deubiquitinating XPC protein and preventing XPC protein from undergoing ultraviolet light-induced and VCP/p97 protein-regulated proteolysis.
He J; Zhu Q; Wani G; Sharma N; Han C; Qian J; Pentz K; Wang QE; Wani AA
J Biol Chem; 2014 Sep; 289(39):27278-27289. PubMed ID: 25118285
[TBL] [Abstract][Full Text] [Related]
14. Expression of a transfected DNA repair gene (XPA) in xeroderma pigmentosum group A cells restores normal DNA repair and mutagenesis of UV-treated plasmids.
Levy DD; Saijo M; Tanaka K; Kraemer KH
Carcinogenesis; 1995 Jul; 16(7):1557-63. PubMed ID: 7614689
[TBL] [Abstract][Full Text] [Related]
15. Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein.
Nishi R; Okuda Y; Watanabe E; Mori T; Iwai S; Masutani C; Sugasawa K; Hanaoka F
Mol Cell Biol; 2005 Jul; 25(13):5664-74. PubMed ID: 15964821
[TBL] [Abstract][Full Text] [Related]
16. Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer.
Muotri AR; Marchetto MC; Zerbini LF; Libermann TA; Ventura AM; Sarasin A; Menck CF
Hum Gene Ther; 2002 Oct; 13(15):1833-44. PubMed ID: 12396616
[TBL] [Abstract][Full Text] [Related]
17. In vivo recruitment of XPC to UV-induced cyclobutane pyrimidine dimers by the DDB2 gene product.
Fitch ME; Nakajima S; Yasui A; Ford JM
J Biol Chem; 2003 Nov; 278(47):46906-10. PubMed ID: 12944386
[TBL] [Abstract][Full Text] [Related]
18. A unique chromosomal in-frame deletion identified among seven XP-C patients.
Schubert S; Rieper P; Ohlenbusch A; Seebode C; Lehmann J; Gratchev A; Emmert S
Photodermatol Photoimmunol Photomed; 2016 Sep; 32(5-6):276-283. PubMed ID: 27387384
[TBL] [Abstract][Full Text] [Related]
19. Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
Bernardes de Jesus BM; Bjørås M; Coin F; Egly JM
Mol Cell Biol; 2008 Dec; 28(23):7225-35. PubMed ID: 18809580
[TBL] [Abstract][Full Text] [Related]
20. 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; 332(2):337-51. PubMed ID: 12948486
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
