메뉴 건너뛰기




Volumn 32, Issue 4, 2011, Pages 516-521

In vitro functional effects of XPC gene rare variants from bladder cancer patients

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; MESSENGER RNA; XERODERMA PIGMENTOSUM GROUP C PROTEIN;

EID: 79953706289     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgr005     Document Type: Article
Times cited : (8)

References (42)
  • 1
    • 41349099104 scopus 로고    scopus 로고
    • Cancer statistics, 2008
    • Jemal,A. et al. (2008) Cancer statistics, 2008. CA Cancer J. Clin., 58, 71-96.
    • (2008) CA Cancer J. Clin. , vol.58 , pp. 71-96
    • Jemal, A.1
  • 2
    • 0035495386 scopus 로고    scopus 로고
    • How nucleotide excision repair protects against cancer
    • Friedberg,E.C. (2001) How nucleotide excision repair protects against cancer. Nat. Rev. Cancer, 1, 22-33.
    • (2001) Nat. Rev. Cancer , vol.1 , pp. 22-33
    • Friedberg, E.C.1
  • 3
    • 0033082322 scopus 로고    scopus 로고
    • Xeroderma pigmentosum and the role of UVinduced DNA damage in skin cancer
    • van Steeg,H. et al. (1999) Xeroderma pigmentosum and the role of UVinduced DNA damage in skin cancer. Mol. Med. Today, 5, 86-94.
    • (1999) Mol. Med. Today , vol.5 , pp. 86-94
    • van Steeg, H.1
  • 4
    • 0028269240 scopus 로고
    • Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23
    • Masutani,C. et al. (1994) Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. EMBO J., 13, 1831-1843.
    • (1994) EMBO J , vol.13 , pp. 1831-1843
    • Masutani, C.1
  • 5
    • 34748912887 scopus 로고    scopus 로고
    • In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation
    • Yasuda,G. et al. (2007) In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation. Mol. Cell. Biol., 27, 6606-6614.
    • (2007) Mol. Cell. Biol. , vol.27 , pp. 6606-6614
    • Yasuda, G.1
  • 6
    • 0032134423 scopus 로고    scopus 로고
    • Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair
    • Sugasawa,K. et al. (1998) Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol. Cell, 2, 223-232.
    • (1998) Mol. Cell , vol.2 , pp. 223-232
    • Sugasawa, K.1
  • 7
    • 0023130695 scopus 로고
    • Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
    • Kraemer,K.H. et al. (1987) Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch. Dermatol., 123, 241-250.
    • (1987) Arch. Dermatol. , vol.123 , pp. 241-250
    • Kraemer, K.H.1
  • 8
    • 0018746751 scopus 로고
    • Cancer in families with xeroderma pigmentosum
    • Swift,M. et al. (1979) Cancer in families with xeroderma pigmentosum. J. Natl Cancer Inst., 62, 1415-1421.
    • (1979) J. Natl Cancer Inst. , vol.62 , pp. 1415-1421
    • Swift, M.1
  • 9
    • 0035900911 scopus 로고    scopus 로고
    • Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries
    • Olsen,J.H. et al. (2001) Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J. Natl Cancer Inst., 93, 121-127.
    • (2001) J. Natl Cancer Inst. , vol.93 , pp. 121-127
    • Olsen, J.H.1
  • 10
    • 18544386262 scopus 로고    scopus 로고
    • BLM heterozygosity and the risk of colorectal cancer
    • Gruber,S.B. et al. (2002) BLM heterozygosity and the risk of colorectal cancer. Science, 297, 2013.
    • (2002) Science , vol.297 , pp. 2013
    • Gruber, S.B.1
  • 11
    • 0034689378 scopus 로고    scopus 로고
    • Defective nucleotide excision repair in xpc mutant mice and its association with cancer predisposition
    • Friedberg,E.C. et al. (2000) Defective nucleotide excision repair in xpc mutant mice and its association with cancer predisposition. Mutat. Res., 459, 99-108.
    • (2000) Mutat. Res. , vol.459 , pp. 99-108
    • Friedberg, E.C.1
  • 12
    • 24944549950 scopus 로고    scopus 로고
    • Deletion of XPC leads to lung tumors in mice and is associated with early events in human lung carcinogenesis
    • Hollander,M.C. et al. (2005) Deletion of XPC leads to lung tumors in mice and is associated with early events in human lung carcinogenesis. Proc. Natl Acad. Sci. USA, 102, 13200-13205.
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , pp. 13200-13205
    • Hollander, M.C.1
  • 13
    • 40449112147 scopus 로고    scopus 로고
    • Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes
    • Melis,J.P. et al. (2008) Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. Cancer Res., 68, 1347-1353.
    • (2008) Cancer Res , vol.68 , pp. 1347-1353
    • Melis, J.P.1
  • 14
    • 0034636004 scopus 로고    scopus 로고
    • Removal of oxygen free-radical-induced 5',8-purine cyclodeoxynucleosides from DNA by the nucleotide excision-repair pathway in human cells
    • Kuraoka,I. et al. (2000) Removal of oxygen free-radical-induced 5',8-purine cyclodeoxynucleosides from DNA by the nucleotide excision-repair pathway in human cells. Proc. Natl Acad. Sci. USA, 97, 3832-3837.
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 3832-3837
    • Kuraoka, I.1
  • 15
    • 33748944305 scopus 로고    scopus 로고
    • New functions of XPC in the protection of human skin cells from oxidative damage
    • D'Errico,M. et al. (2006) New functions of XPC in the protection of human skin cells from oxidative damage. EMBO J., 25, 4305-4315.
    • (2006) EMBO J , vol.25 , pp. 4305-4315
    • D'Errico, M.1
  • 16
    • 0037413689 scopus 로고    scopus 로고
    • Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase
    • Shimizu,Y. et al. (2003) Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase. EMBO J., 22, 164-173.
    • (2003) EMBO J , vol.22 , pp. 164-173
    • Shimizu, Y.1
  • 17
    • 33845984531 scopus 로고    scopus 로고
    • Comprehensive analysis of 22 XPC polymorphisms and bladder cancer risk
    • Sak,S.C. et al. (2006) Comprehensive analysis of 22 XPC polymorphisms and bladder cancer risk. Cancer Epidemiol. Biomarkers Prev., 15, 2537-2541.
    • (2006) Cancer Epidemiol. Biomarkers Prev. , vol.15 , pp. 2537-2541
    • Sak, S.C.1
  • 18
    • 22044455753 scopus 로고    scopus 로고
    • The polyAT, intronic IVS11-6 and Lys939Gln XPC polymorphisms are not associated with transitional cell carcinoma of the bladder
    • Sak,S.C. et al. (2005) The polyAT, intronic IVS11-6 and Lys939Gln XPC polymorphisms are not associated with transitional cell carcinoma of the bladder. Br. J. Cancer, 92, 2262-2265.
    • (2005) Br. J. Cancer , vol.92 , pp. 2262-2265
    • Sak, S.C.1
  • 19
    • 9644265161 scopus 로고    scopus 로고
    • Cross-talk between pRb/E2F and Wnt/betacatenin pathways: E2F1 induces axin2 leading to repression of Wnt signalling and to increased cell death
    • Hughes,T.A. et al. (2005) Cross-talk between pRb/E2F and Wnt/betacatenin pathways: E2F1 induces axin2 leading to repression of Wnt signalling and to increased cell death. Exp. Cell Res., 303, 32-46.
    • (2005) Exp. Cell Res. , vol.303 , pp. 32-46
    • Hughes, T.A.1
  • 20
    • 48349135615 scopus 로고    scopus 로고
    • PARP inhibition versus PARP-1 silencing: different outcomes in terms of single-strand break repair and radiation susceptibility
    • Godon,C. et al. (2008) PARP inhibition versus PARP-1 silencing: different outcomes in terms of single-strand break repair and radiation susceptibility. Nucleic Acids Res., 36, 4454-4464.
    • (2008) Nucleic Acids Res , vol.36 , pp. 4454-4464
    • Godon, C.1
  • 21
    • 0032188764 scopus 로고    scopus 로고
    • p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C
    • Giglia,G. et al. (1998) p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C. Cancer Res., 58, 4402-4409.
    • (1998) Cancer Res , vol.58 , pp. 4402-4409
    • Giglia, G.1
  • 22
    • 49749100700 scopus 로고    scopus 로고
    • Molecular pathogenesis of bladder cancer
    • Knowles,M.A. (2008) Molecular pathogenesis of bladder cancer. Int. J. Clin. Oncol., 13, 287-297.
    • (2008) Int. J. Clin. Oncol. , vol.13 , pp. 287-297
    • Knowles, M.A.1
  • 23
    • 0035965942 scopus 로고    scopus 로고
    • Loss of heterozygosity of nucleotide excision repair factors in sporadic ovarian, colon and lung carcinomas: implication for their roles of carcinogenesis in human solid tumors
    • Takebayashi,Y. et al. (2001) Loss of heterozygosity of nucleotide excision repair factors in sporadic ovarian, colon and lung carcinomas: implication for their roles of carcinogenesis in human solid tumors. Cancer Lett., 174, 115-125.
    • (2001) Cancer Lett , vol.174 , pp. 115-125
    • Takebayashi, Y.1
  • 24
    • 4444371794 scopus 로고    scopus 로고
    • Relative levels of the two mammalian Rad23 homologs determine composition and stability of the xeroderma pigmentosum group C protein complex
    • Okuda,Y. et al. (2004) Relative levels of the two mammalian Rad23 homologs determine composition and stability of the xeroderma pigmentosum group C protein complex. DNA Repair (Amst.), 3, 1285-1295.
    • (2004) DNA Repair (Amst.) , vol.3 , pp. 1285-1295
    • Okuda, Y.1
  • 25
    • 38049153468 scopus 로고    scopus 로고
    • Effect of single nucleotide polymorphisms on expression of the gene encoding thrombin-activatable fibrinolysis inhibitor: a functional analysis
    • Boffa,M.B. et al. (2008) Effect of single nucleotide polymorphisms on expression of the gene encoding thrombin-activatable fibrinolysis inhibitor: a functional analysis. Blood, 111, 183-189.
    • (2008) Blood , vol.111 , pp. 183-189
    • Boffa, M.B.1
  • 26
    • 29644437407 scopus 로고    scopus 로고
    • 3'-UTR polymorphism in the human CYP2A6 gene affects mRNA stability and enzyme expression
    • Wang,J. et al. (2006) 3'-UTR polymorphism in the human CYP2A6 gene affects mRNA stability and enzyme expression. Biochem. Biophys. Res. Commun., 340, 491-497.
    • (2006) Biochem. Biophys. Res. Commun. , vol.340 , pp. 491-497
    • Wang, J.1
  • 27
    • 35448975679 scopus 로고    scopus 로고
    • Polymorphisms in the 3' UTR in the neurocalcin delta gene affect mRNA stability, and confer susceptibility to diabetic nephropathy
    • Kamiyama,M. et al. (2007) Polymorphisms in the 3' UTR in the neurocalcin delta gene affect mRNA stability, and confer susceptibility to diabetic nephropathy. Hum. Genet., 122, 397-407.
    • (2007) Hum. Genet. , vol.122 , pp. 397-407
    • Kamiyama, M.1
  • 28
    • 10744223717 scopus 로고    scopus 로고
    • 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,S.G. et al. (2004) 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. Hum. Mol. Genet., 13, 343-352.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 343-352
    • Khan, S.G.1
  • 29
    • 0034027382 scopus 로고    scopus 로고
    • Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels
    • Chavanne,F. et al. (2000) Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res., 60, 1974-1982.
    • (2000) Cancer Res , vol.60 , pp. 1974-1982
    • Chavanne, F.1
  • 30
    • 57349187237 scopus 로고    scopus 로고
    • Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC
    • Bernardes de Jesus,B.M. et al. (2008) Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC. Mol. Cell. Biol., 28, 7225-7235.
    • (2008) Mol. Cell. Biol. , vol.28 , pp. 7225-7235
    • Bernardes de Jesus, B.M.1
  • 31
    • 33845575990 scopus 로고    scopus 로고
    • Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein
    • Bunick,C.G. et al. (2006) Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein. Biochemistry, 45, 14965-14979.
    • (2006) Biochemistry , vol.45 , pp. 14965-14979
    • Bunick, C.G.1
  • 32
    • 29744457502 scopus 로고    scopus 로고
    • Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients
    • Khan,S.G. et al. (2006) Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis, 27, 84-94.
    • (2006) Carcinogenesis , vol.27 , pp. 84-94
    • Khan, S.G.1
  • 33
    • 33745893222 scopus 로고    scopus 로고
    • Evaluation of xeroderma pigmentosum XPA, XPC, XPD, XPF, XPB, XPG and DDB2 genes in familial early-onset lung cancer predisposition
    • Matakidou,A. et al. (2006) Evaluation of xeroderma pigmentosum XPA, XPC, XPD, XPF, XPB, XPG and DDB2 genes in familial early-onset lung cancer predisposition. Int. J. Cancer, 119, 964-967.
    • (2006) Int. J. Cancer , vol.119 , pp. 964-967
    • Matakidou, A.1
  • 34
    • 3442880144 scopus 로고    scopus 로고
    • p53 heterozygosity results in an increased 2-acetylaminofluorene-induced urinary bladder but not liver tumor response in DNA repair-deficient Xpa mice
    • Hoogervorst,E.M. et al. (2004) p53 heterozygosity results in an increased 2-acetylaminofluorene-induced urinary bladder but not liver tumor response in DNA repair-deficient Xpa mice. Cancer Res., 64, 5118-5126.
    • (2004) Cancer Res , vol.64 , pp. 5118-5126
    • Hoogervorst, E.M.1
  • 35
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • Bodmer,W. et al. (2008) Common and rare variants in multifactorial susceptibility to common diseases. Nat. Genet., 40, 695-701.
    • (2008) Nat. Genet. , vol.40 , pp. 695-701
    • Bodmer, W.1
  • 36
    • 8644235804 scopus 로고    scopus 로고
    • Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas
    • Fearnhead,N.S. et al. (2004) Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc. Natl Acad. Sci. USA, 101, 15992-15997.
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 15992-15997
    • Fearnhead, N.S.1
  • 37
    • 33745920193 scopus 로고    scopus 로고
    • Association of MUTYH and colorectal cancer
    • Tenesa,A. et al. (2006) Association of MUTYH and colorectal cancer. Br. J. Cancer, 95, 239-242.
    • (2006) Br. J. Cancer , vol.95 , pp. 239-242
    • Tenesa, A.1
  • 38
    • 24944471391 scopus 로고    scopus 로고
    • Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal
    • Clarkson,S.G. et al. (2005) Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal. DNA Repair (Amst.), 4, 1068-1074.
    • (2005) DNA Repair (Amst.) , vol.4 , pp. 1068-1074
    • Clarkson, S.G.1
  • 39
    • 7944234072 scopus 로고    scopus 로고
    • 2-AAF-induced tumor development in nucleotide excision repair-deficient mice is associated with a defect in global genome repair but not with transcription coupled repair
    • Hoogervorst,E.M. et al. (2005) 2-AAF-induced tumor development in nucleotide excision repair-deficient mice is associated with a defect in global genome repair but not with transcription coupled repair. DNA Repair (Amst.), 4, 3-9.
    • (2005) DNA Repair (Amst.) , vol.4 , pp. 3-9
    • Hoogervorst, E.M.1
  • 40
    • 34047130670 scopus 로고    scopus 로고
    • The resequencing imperative
    • Topol,E.J. et al. (2007) The resequencing imperative. Nat. Genet., 39, 439-440.
    • (2007) Nat. Genet. , vol.39 , pp. 439-440
    • Topol, E.J.1
  • 41
    • 34250159524 scopus 로고    scopus 로고
    • Genome-wide mapping of in vivo protein-DNA interactions
    • Johnson,D.S. et al. (2007) Genome-wide mapping of in vivo protein-DNA interactions. Science, 316, 1497-1502.
    • (2007) Science , vol.316 , pp. 1497-1502
    • Johnson, D.S.1
  • 42
    • 34249026300 scopus 로고    scopus 로고
    • High-resolution profiling of histone methylations in the human genome
    • Barski,A. et al. (2007) High-resolution profiling of histone methylations in the human genome. Cell, 129, 823-837.
    • (2007) Cell , vol.129 , pp. 823-837
    • Barski, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.