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Volumn 27, Issue 1, 2006, Pages 84-94

Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients

(18)  Khan, Sikandar G a   Oh, Kyu Seon a   Shahlavi, Tala a,h   Ueda, Takahiro a   Busch, David B b   Inui, Hiroki a,i   Emmert, Steffen a,j   Imoto, Kyoko a   Muniz Medina, Vanessa a,k   Baker, Carl C a   DiGiovanna, John J a,c   Schmidt, Deborah a   Khadavi, Arash a,l   Metin, Ahmet d   Gozukara, Engin e   Slor, Hanoch f   Sarasin, Alain g   Kraemer, Kenneth H a  


Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENE PRODUCT; MESSENGER RNA; UNCLASSIFIED DRUG; XERODERMA PIGMENTOSUM GROUP C PROTEIN;

EID: 29744457502     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgi204     Document Type: Article
Times cited : (73)

References (61)
  • 1
    • 0013005719 scopus 로고    scopus 로고
    • Nucleotide excision repair syndromes: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
    • Vogelstein,B. and Kinzler,K.W. (eds) 2nd edn. McGraw-Hill, New York
    • Bootsma,D., Kraemer,K.H., Cleaver,J.E. and Hoeijmakers,J.H.J. (2002) Nucleotide excision repair syndromes: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In Vogelstein,B. and Kinzler,K.W. (eds) The Genetic Basis of Human Cancer, 2nd edn. McGraw-Hill, New York, pp. 211-237.
    • (2002) The Genetic Basis of Human Cancer , pp. 211-237
    • Bootsma, D.1    Kraemer, K.H.2    Cleaver, J.E.3    Hoeijmakers, J.H.J.4
  • 2
    • 14844287786 scopus 로고    scopus 로고
    • Heritable diseases with increased sensitivity to cellular injury
    • Freedberg,I.M., Eisen,A.Z., Wolff, K., Austen,K.F., Goldsmith,L.A. and Katz,S.I. (eds) McGraw-Hill, New York
    • Kraemer,K.H. (2003) Heritable diseases with increased sensitivity to cellular injury. In Freedberg,I.M., Eisen,A.Z., Wolff, K., Austen,K.F., Goldsmith,L.A. and Katz,S.I. (eds) Fitzpatrick's Dermatology in General Medicine. McGraw-Hill, New York, pp. 1508-1521.
    • (2003) Fitzpatrick's Dermatology in General Medicine , pp. 1508-1521
    • Kraemer, K.H.1
  • 4
    • 0034737426 scopus 로고    scopus 로고
    • The Xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA
    • Yokoi,M., Masutani,C., Maekawa,T., Sugasawa,K., Ohkuma,Y. and Hanaoka,F. (2000) The Xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA. J. Biol. Chem., 275, 9870-9875.
    • (2000) J. Biol. Chem. , vol.275 , pp. 9870-9875
    • Yokoi, M.1    Masutani, C.2    Maekawa, T.3    Sugasawa, K.4    Ohkuma, Y.5    Hanaoka, F.6
  • 5
    • 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., Nishi,R., Ng,J.M., Vermeulen,W., van der Horst,G.T., Mori,T, Hoeijmakers,J.H., Hanaoka,F. and Sugasawa,K. (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    Nishi, R.2    Ng, J.M.3    Vermeulen, W.4    van der Horst, G.T.5    Mori, T.6    Hoeijmakers, J.H.7    Hanaoka, F.8    Sugasawa, K.9
  • 6
    • 20744446570 scopus 로고    scopus 로고
    • 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. and Hanaoka,F. (2005) Centrin 2 stimulates nucleotide excision repair by interacting with Xeroderma pigmentosum group C protein. Mol. Cell Biol., 25, 5664-5674.
    • (2005) Mol. Cell Biol. , vol.25 , pp. 5664-5674
    • Nishi, R.1    Okuda, Y.2    Watanabe, E.3    Mori, T.4    Iwai, S.5    Masutani, C.6    Sugasawa, K.7    Hanaoka, F.8
  • 7
    • 0141924869 scopus 로고    scopus 로고
    • Xeroderma pigmentosum group C protein possesses a high affinity binding site to human centrin 2 and calmodulin
    • Popescu,A., Miron,S., Blouquit,Y., Duchambon,P., Christova,P. and Craescu,C.T. (2003) Xeroderma pigmentosum group C protein possesses a high affinity binding site to human centrin 2 and calmodulin. J. Biol. Chem., 278, 4025-40261.
    • (2003) J. Biol. Chem. , vol.278 , pp. 4025-40261
    • Popescu, A.1    Miron, S.2    Blouquit, Y.3    Duchambon, P.4    Christova, P.5    Craescu, C.T.6
  • 8
    • 0035374836 scopus 로고    scopus 로고
    • Centrosome protein centrin 2/caltractin 1 is part of the Xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair
    • Araki,M., Masutani,C., Takemura, M., Uchida,A., Sugasawa,K., Kondoh,J., Ohkuma,Y. and Hanaoka,F. (2001) Centrosome protein centrin 2/caltractin 1 is part of the Xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. J. Biol. Chem., 276, 18665-18672.
    • (2001) J. Biol. Chem. , vol.276 , pp. 18665-18672
    • Araki, M.1    Masutani, C.2    Takemura, M.3    Uchida, A.4    Sugasawa, K.5    Kondoh, J.6    Ohkuma, Y.7    Hanaoka, F.8
  • 9
    • 0023130695 scopus 로고
    • Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
    • Kraemer,K.H., Lee,M.M. and Scotto,J. (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    Lee, M.M.2    Scotto, J.3
  • 10
    • 0028110878 scopus 로고
    • The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer: The Xeroderma pigmentosum paradigm
    • Kraemer,K.H., Lee,M.-M., Andrews,A.D. and Lambert,W.C. (1994) The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer: The Xeroderma pigmentosum paradigm. Arch. Dermatol., 130, 1018-1021.
    • (1994) Arch. Dermatol. , vol.130 , pp. 1018-1021
    • Kraemer, K.H.1    Lee, M.-M.2    Andrews, A.D.3    Lambert, W.C.4
  • 11
    • 0018746751 scopus 로고
    • Cancer in families with Xeroderma pigmentosum
    • Swift,M. and Chase,C. (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    Chase, C.2
  • 12
    • 0028978672 scopus 로고
    • High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC
    • Sands,A.T., Abuin,A., Sanchez,A., Conti,C.J. and Bradley,A. (1995) High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC. Nature, 377, 162-165.
    • (1995) Nature , vol.377 , pp. 162-165
    • Sands, A.T.1    Abuin, A.2    Sanchez, A.3    Conti, C.J.4    Bradley, A.5
  • 13
    • 0033518144 scopus 로고    scopus 로고
    • Persistence of p53 mutations and resistance of keratinocytes to apoptosis are associated with the increased susceptibility of mice lacking the XPC gene to UV carcinogenesis
    • Ananthaswamy,H.N., Ouhtit,A., Evans,R.L., Gorny,A., Khaskina,P., Sands,A.T. and Conti,C.J. (1999) Persistence of p53 mutations and resistance of keratinocytes to apoptosis are associated with the increased susceptibility of mice lacking the XPC gene to UV carcinogenesis. Oncogene, 18, 7395-7398.
    • (1999) Oncogene , vol.18 , pp. 7395-7398
    • Ananthaswamy, H.N.1    Ouhtit, A.2    Evans, R.L.3    Gorny, A.4    Khaskina, P.5    Sands, A.T.6    Conti, C.J.7
  • 14
    • 0032605590 scopus 로고    scopus 로고
    • Cancer predisposition in mutant mice defective in the XPC DNA repair gene
    • Friedberg,E.C., Cheo,D.L., Meira,L.B. and Reis,A.M. (1999) Cancer predisposition in mutant mice defective in the XPC DNA repair gene. Prog. Exp. Tumor Res., 35, 37-52.
    • (1999) Prog. Exp. Tumor Res. , vol.35 , pp. 37-52
    • Friedberg, E.C.1    Cheo, D.L.2    Meira, L.B.3    Reis, A.M.4
  • 15
    • 0034654169 scopus 로고    scopus 로고
    • Ultraviolet B radiation-induced skin cancer in mice defective in the Xpc, Trp53, and Apex (HAP1) genes: Genotype-specific effects on cancer predisposition and pathology of tumors
    • Cheo,D.L., Meira,L.B., Burns,D.K., Reis,A.M., Issac,T. and Friedberg,E.C. (2000) Ultraviolet B radiation-induced skin cancer in mice defective in the Xpc, Trp53, and Apex (HAP1) genes: genotype-specific effects on cancer predisposition and pathology of tumors. Cancer Res., 60, 1580-1584.
    • (2000) Cancer Res. , vol.60 , pp. 1580-1584
    • Cheo, D.L.1    Meira, L.B.2    Burns, D.K.3    Reis, A.M.4    Issac, T.5    Friedberg, E.C.6
  • 17
    • 0034653698 scopus 로고    scopus 로고
    • Genotype-specific Trp53 mutational analysis in ultraviolet B radiation-induced skin cancers in Xpc and Xpc Trp53 mutant mice
    • Reis,A.M., Cheo,D.L., Meira,L.B., Greenblatt,M.S., Bond,J.P., Nahari,D. and Friedberg,E.C. (2000) Genotype-specific Trp53 mutational analysis in ultraviolet B radiation-induced skin cancers in Xpc and Xpc Trp53 mutant mice. Cancer Res., 60, 1571-1579.
    • (2000) Cancer Res. , vol.60 , pp. 1571-1579
    • Reis, A.M.1    Cheo, D.L.2    Meira, L.B.3    Greenblatt, M.S.4    Bond, J.P.5    Nahari, D.6    Friedberg, E.C.7
  • 18
    • 0037158903 scopus 로고    scopus 로고
    • A novel p53 mutational hotspot in skin tumors from UV-irradiated Xpc mutant mice alters transactivation functions
    • Inga,A., Nahari,D., Velasco-Miguel,S., Friedberg,E.C. and Resnick,M.A. (2002) A novel p53 mutational hotspot in skin tumors from UV-irradiated Xpc mutant mice alters transactivation functions. Oncogene, 21, 5704-5715.
    • (2002) Oncogene , vol.21 , pp. 5704-5715
    • Inga, A.1    Nahari, D.2    Velasco-Miguel, S.3    Friedberg, E.C.4    Resnick, M.A.5
  • 19
    • 1542328912 scopus 로고    scopus 로고
    • Mutations in the Trp53 gene of UV-irradiated Xpc mutant mice suggest a novel Xpc-dependent DNA repair process
    • Nahari,D., McDaniel,L.D., Task,L.B., Daniel,R.L., Velasco-Miguel,S. and Friedberg,E.C. (2004) Mutations in the Trp53 gene of UV-irradiated Xpc mutant mice suggest a novel Xpc-dependent DNA repair process. DNA Repair (Amst), 3, 379-386.
    • (2004) DNA Repair (Amst) , vol.3 , pp. 379-386
    • Nahari, D.1    McDaniel, L.D.2    Task, L.B.3    Daniel, R.L.4    Velasco-Miguel, S.5    Friedberg, E.C.6
  • 20
    • 0037102580 scopus 로고    scopus 로고
    • The human XPC DNA repair gene: Arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function
    • Khan,S.G., Muniz-Medina,V., Shahlavi,T., Baker,C.C., Inui,H., Ueda,T., Emmert,S., Schneider,T.D. and Kraemer,K.H. (2002) The human XPC DNA repair gene: Arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res., 30, 3624-3631.
    • (2002) Nucleic Acids Res. , vol.30 , pp. 3624-3631
    • Khan, S.G.1    Muniz-Medina, V.2    Shahlavi, T.3    Baker, C.C.4    Inui, H.5    Ueda, T.6    Emmert, S.7    Schneider, T.D.8    Kraemer, K.H.9
  • 21
    • 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., Metin,A., Gozukara,E. 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    Metin, A.2    Gozukara, E.3
  • 22
    • 0034518194 scopus 로고    scopus 로고
    • Clinical, cellular, and molecular features of an Israeli Xeroderma pigmentosum family with a frameshift mutation in the XPC gene: Sun protection prolongs life
    • Slor,H., Batko,S., Khan,S.G., Sobe,T., Emmert,S., Khadavi,A., Frumkin,A., Busch,D.B., Albert,R.B. and Kraemer,K.H. (2000) Clinical, cellular, and molecular features of an Israeli Xeroderma pigmentosum family with a frameshift mutation in the XPC gene: Sun protection prolongs life. J. Invest Dermatol., 115, 974-980.
    • (2000) J. Invest Dermatol. , vol.115 , pp. 974-980
    • Slor, H.1    Batko, S.2    Khan, S.G.3    Sobe, T.4    Emmert, S.5    Khadavi, A.6    Frumkin, A.7    Busch, D.B.8    Albert, R.B.9    Kraemer, K.H.10
  • 23
    • 0031751372 scopus 로고    scopus 로고
    • Xeroderma pigmentosum: Spinal cord astrocytoma with 9-year survival after radiation and isotretinoin therapy
    • DiGiovanna,J.J., Patronas,N., Katz,D., Abangan,D. and Kraemer,K.H. (1998) Xeroderma pigmentosum: Spinal cord astrocytoma with 9-year survival after radiation and isotretinoin therapy. J. Cutan. Med. Surg., 2, 153-158.
    • (1998) J. Cutan. Med. Surg. , vol.2 , pp. 153-158
    • DiGiovanna, J.J.1    Patronas, N.2    Katz, D.3    Abangan, D.4    Kraemer, K.H.5
  • 24
    • 0027370825 scopus 로고
    • Characterization of molecular defects in Xeroderma pigmentosum group C
    • Li,L., Bales,E.S., Peterson,C.A. and Legerski,R.J. (1993) Characterization of molecular defects in Xeroderma pigmentosum group C. Nat. Genet., 5, 413-417.
    • (1993) Nat. Genet. , vol.5 , pp. 413-417
    • Li, L.1    Bales, E.S.2    Peterson, C.A.3    Legerski, R.J.4
  • 25
    • 0036150806 scopus 로고    scopus 로고
    • Adult-onset Xeroderma pigmentosum neurological disease - Observations in an autopsy case
    • Robbins,J.H., Kraemer,K.H., Merchant,S.N. and Brumback,R.A. (2002) Adult-onset Xeroderma pigmentosum neurological disease - observations in an autopsy case. Clin. Neuropathol., 21, 18-23.
    • (2002) Clin. Neuropathol. , vol.21 , pp. 18-23
    • Robbins, J.H.1    Kraemer, K.H.2    Merchant, S.N.3    Brumback, R.A.4
  • 26
    • 0015982924 scopus 로고
    • Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair
    • Robbins,J.H., Kraemer,K.H., Lutzner,M.A., Festoff, B.W. and Coon,H.G. (1974) Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann. Intern. Med., 80, 221-248.
    • (1974) Ann. Intern. Med. , vol.80 , pp. 221-248
    • Robbins, J.H.1    Kraemer, K.H.2    Lutzner, M.A.3    Festoff, B.W.4    Coon, H.G.5
  • 27
    • 0035722196 scopus 로고    scopus 로고
    • A stop codon in Xeroderma pigmentosum group C families in Turkey and Italy: Molecular genetic evidence for a common ancestor
    • Gozukara,E.M., Khan,S.G., Metin,A. et al. (2001) A stop codon in Xeroderma pigmentosum group C families in Turkey and Italy: Molecular genetic evidence for a common ancestor. J. Invest Dermatol., 117, 197-204.
    • (2001) J. Invest Dermatol. , vol.117 , pp. 197-204
    • Gozukara, E.M.1    Khan, S.G.2    Metin, A.3
  • 28
    • 0023102949 scopus 로고
    • An immortalized Xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors
    • Daya-Grosjean,L., James,M.R., Drougard,C. and Sarasin,A. (1987) An immortalized Xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors. Mutat. Res., 183, 185-196.
    • (1987) Mutat. Res. , vol.183 , pp. 185-196
    • Daya-Grosjean, L.1    James, M.R.2    Drougard, C.3    Sarasin, A.4
  • 29
    • 0036280841 scopus 로고    scopus 로고
    • Relationship of neurologic degeneration to genotype in three Xeroderma pigmentosum group G patients
    • Emmert,S., Slor,H., Busch,D.B. et al. (2002) Relationship of neurologic degeneration to genotype in three Xeroderma pigmentosum group G patients. J. Invest Dermatol., 118, 972-982.
    • (2002) J. Invest Dermatol. , vol.118 , pp. 972-982
    • Emmert, S.1    Slor, H.2    Busch, D.B.3
  • 30
    • 0016421997 scopus 로고
    • Genetic heterogeneity in Xeroderma pigmentosum: Complementation groups and their relationship to DNA repair rates
    • Kraemer,K.H., Coon,H.G., Petinga,R.A., Barrett,S.F., Rahe,A.E. and Robbins,J.H. (1975) Genetic heterogeneity in Xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates. Proc. Natl Acad. Sci. USA, 72, 59-63.
    • (1975) Proc. Natl Acad. Sci. USA , vol.72 , pp. 59-63
    • Kraemer, K.H.1    Coon, H.G.2    Petinga, R.A.3    Barrett, S.F.4    Rahe, A.E.5    Robbins, J.H.6
  • 33
    • 0037129827 scopus 로고    scopus 로고
    • Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
    • RESEARCH0034. 1-0034.11
    • Vandesompele,J., De Preter,K., Pattyn,F., Poppe,B., Van Roy,N., De Paepe,A. and Speleman,F. (2002) Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol., 3, RESEARCH0034. 1-0034.11.
    • (2002) Genome Biol. , vol.3
    • Vandesompele, J.1    De Preter, K.2    Pattyn, F.3    Poppe, B.4    Van Roy, N.5    De Paepe, A.6    Speleman, F.7
  • 34
    • 0031583033 scopus 로고    scopus 로고
    • Information content of individual genetic sequences
    • Schneider,T.D. (1997) Information content of individual genetic sequences. J. Theor. Biol., 189, 427-441.
    • (1997) J. Theor. Biol. , vol.189 , pp. 427-441
    • Schneider, T.D.1
  • 35
    • 0030658850 scopus 로고    scopus 로고
    • Sequence walkers: A graphical method to display how binding proteins interact with DNA or RNA sequences
    • Schneider,T.D. (1997) Sequence walkers: A graphical method to display how binding proteins interact with DNA or RNA sequences. Nucleic Acids Res., 25, 4408-4415.
    • (1997) Nucleic Acids Res. , vol.25 , pp. 4408-4415
    • Schneider, T.D.1
  • 36
    • 0034007866 scopus 로고    scopus 로고
    • The Xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts
    • Emmert,S., Kobayashi,N., Khan,S.G. and Kraemer,K.H. (2000) The Xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts. Proc. Natl Acad. Sci. USA, 97, 2151-2156.
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 2151-2156
    • Emmert, S.1    Kobayashi, N.2    Khan, S.G.3    Kraemer, K.H.4
  • 38
    • 0031738328 scopus 로고    scopus 로고
    • Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia
    • Khan,S.G., Levy,H.L., Legerski,R. et al. (1998) Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. J. Invest. Dermatol., 111, 791-796.
    • (1998) J. Invest. Dermatol. , vol.111 , pp. 791-796
    • Khan, S.G.1    Levy, H.L.2    Legerski, R.3
  • 39
    • 0032188764 scopus 로고    scopus 로고
    • p53 Mutations in skin and internal tumors of Xeroderma pigmentosum patients belonging to the complementation group C
    • Giglia,G., Dumaz,N., Drougard,C., Avril,M.F., Daya-Grosjean,L. and Sarasin,A. (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    Dumaz, N.2    Drougard, C.3    Avril, M.F.4    Daya-Grosjean, L.5    Sarasin, A.6
  • 40
    • 0032957045 scopus 로고    scopus 로고
    • Molecular analysis of glioma and skin-tumour alterations in a Xeroderma-pigmentosum child
    • Giglia,G., Bouffet,E., Jouvet,A., Ohgaki,H., Kleihues,P. and Sarasin,A. (1999) Molecular analysis of glioma and skin-tumour alterations in a Xeroderma-pigmentosum child. Int. J. Cancer, 81, 345-350.
    • (1999) Int. J. Cancer , vol.81 , pp. 345-350
    • Giglia, G.1    Bouffet, E.2    Jouvet, A.3    Ohgaki, H.4    Kleihues, P.5    Sarasin, A.6
  • 41
    • 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., Broughton,B.C., Pietra,D., Nardo,T., Browitt,A., Lehmann,A.R. and Stefanini,M. (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    Broughton, B.C.2    Pietra, D.3    Nardo, T.4    Browitt, A.5    Lehmann, A.R.6    Stefanini, M.7
  • 42
    • 0032993689 scopus 로고    scopus 로고
    • A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
    • Cleaver,J.E., Thompson,L.H., Richardson,A.S. and States,J.C. (1999) A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum. Mutat., 14, 9-22.
    • (1999) Hum. Mutat. , vol.14 , pp. 9-22
    • Cleaver, J.E.1    Thompson, L.H.2    Richardson, A.S.3    States, J.C.4
  • 44
    • 0032837376 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in health and disease
    • Frischmeyer,P.A. and Dietz,H.C. (1999) Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet., 8, 1893-1900.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1893-1900
    • Frischmeyer, P.A.1    Dietz, H.C.2
  • 45
    • 0001329015 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay
    • Maquat,L.E. (2002) Nonsense-mediated mRNA decay. Curr. Biol., 12, R196-R197.
    • (2002) Curr. Biol. , vol.12
    • Maquat, L.E.1
  • 46
    • 19344366251 scopus 로고    scopus 로고
    • Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells
    • Lejeune,F. and Maquat,L.E. (2005) Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr. Opin. Cell Biol., 17, 309-315.
    • (2005) Curr. Opin. Cell Biol. , vol.17 , pp. 309-315
    • Lejeune, F.1    Maquat, L.E.2
  • 47
    • 0742323558 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
    • Maquat,L.E. (2004) Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics. Nat. Rev. Mol. Cell Biol., 5, 89-99.
    • (2004) Nat. Rev. Mol. Cell Biol. , vol.5 , pp. 89-99
    • Maquat, L.E.1
  • 48
    • 19444368979 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in mammals
    • Maquat,L.E. (2005) Nonsense-mediated mRNA decay in mammals. J. Cell Sci., 118, 1773-1776.
    • (2005) J. Cell Sci. , vol.118 , pp. 1773-1776
    • Maquat, L.E.1
  • 49
    • 0026697582 scopus 로고
    • Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C
    • [published erratum appears in 1992 Dec 10;360(6404):610]
    • Legerski,R. and Peterson,C. (1992) Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C [published erratum appears in 1992 Dec 10;360(6404):610]. Nature, 359, 70-73.
    • (1992) Nature , vol.359 , pp. 70-73
    • Legerski, R.1    Peterson, C.2
  • 51
    • 0035176067 scopus 로고    scopus 로고
    • The Xeroderma pigmentosum group D (XPD) gene: One gene, two functions, three diseases
    • Lehmarm,A.R. (2001) The Xeroderma pigmentosum group D (XPD) gene: One gene, two functions, three diseases. Genes Dev., 15, 15-23.
    • (2001) Genes Dev. , vol.15 , pp. 15-23
    • Lehmarm, A.R.1
  • 52
    • 21044442126 scopus 로고    scopus 로고
    • UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex
    • Sugasawa,K., Okuda,Y., Saijo,M. et al. (2005) UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex. Cell, 121, 387-400.
    • (2005) Cell , vol.121 , pp. 387-400
    • Sugasawa, K.1    Okuda, Y.2    Saijo, M.3
  • 53
    • 0037413689 scopus 로고    scopus 로고
    • Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase
    • Shimizu,Y., Iwai,S., Hanaoka,F. and Sugasawa, K. (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    Iwai, S.2    Hanaoka, F.3    Sugasawa, K.4
  • 54
    • 0034698033 scopus 로고    scopus 로고
    • The oxidative DNA lesion 8,5′-cyclo-2′-deoxyadenosine is repaired by the nucleotide excision repair pathway and blocks gene expression in mammalian cells
    • Brooks,P.J., Wise,D.S., Berry,D.A. et al. (2000) The oxidative DNA lesion 8,5′-cyclo-2′-deoxyadenosine is repaired by the nucleotide excision repair pathway and blocks gene expression in mammalian cells. J. Biol. Chem., 275, 22355-22362.
    • (2000) J. Biol. Chem. , vol.275 , pp. 22355-22362
    • Brooks, P.J.1    Wise, D.S.2    Berry, D.A.3
  • 55
    • 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., Bender,C., Romieu,A., Cadet,J., Wood,R.D. and Lindahl,T. (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    Bender, C.2    Romieu, A.3    Cadet, J.4    Wood, R.D.5    Lindahl, T.6
  • 57
    • 0035900911 scopus 로고    scopus 로고
    • Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries
    • O lsen,J.H., Hahnemamnn,J.M., Borresen-Dale,A.L. 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    Hahnemamnn, J.M.2    Borresen-Dale, A.L.3
  • 58
    • 18544386262 scopus 로고    scopus 로고
    • BLM heterozygosity and the risk of colorectal cancer
    • Gruber,S.B., Ellis,N.A., Scott,K.K. et al. (2002) BLM heterozygosity and the risk of colorectal cancer. Science, 297, 2013.
    • (2002) Science , vol.297 , pp. 2013
    • Gruber, S.B.1    Ellis, N.A.2    Scott, K.K.3
  • 59
    • 0035870246 scopus 로고    scopus 로고
    • An intronic poly (AT) polymorphism of the DNA repair gene XPC and risk of squamous cell carcinoma of the head and neck: A case-control study
    • Shen,H., Sturgis,E.M., Khan,S.G. et al. (2001) An intronic poly (AT) polymorphism of the DNA repair gene XPC and risk of squamous cell carcinoma of the head and neck: A case-control study. Cancer Res., 61, 3321-3325.
    • (2001) Cancer Res. , vol.61 , pp. 3321-3325
    • Shen, H.1    Sturgis, E.M.2    Khan, S.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.