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Volumn 126, Issue 11, 2006, Pages 2542-2544

A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family [2]

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

EID: 33750040026     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700452     Document Type: Letter
Times cited : (6)

References (9)
  • 1
    • 0013005719 scopus 로고    scopus 로고
    • Nucleotide excision repair syndromes: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
    • (Vogelstein B, Kinzler KW, eds), New York: McGraw-Hill
    • Bootsma D, Kraemer KH, Cleaver JE, Hoeijmakers JH (2002) Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In: The genetic basis of human cancer (Vogelstein B, Kinzler KW, eds), New York: McGraw-Hill pp 211-37
    • (2002) The Genetic Basis of Human Cancer , pp. 211-237
    • Bootsma, D.1    Kraemer, K.H.2    Cleaver, J.E.3    Hoeijmakers, J.H.4
  • 2
    • 0035888619 scopus 로고    scopus 로고
    • 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 et al. (2001) Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet 10:2539-47
    • (2001) Hum Mol Genet , vol.10 , pp. 2539-2547
    • Broughton, B.C.1    Berneburg, M.2    Fawcett, H.3    Taylor, E.M.4    Arlett, C.F.5    Nardo, T.6
  • 3
    • 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 BC, Pietra D, Nardo T, Browitt A, Lehmann AR et al. (2000) Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res 60:1974-82
    • (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
  • 4
    • 0036280841 scopus 로고    scopus 로고
    • Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients
    • Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D et al. (2002) Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J Invest Dermatol 118:972-82
    • (2002) J Invest Dermatol , vol.118 , pp. 972-982
    • Emmert, S.1    Slor, H.2    Busch, D.B.3    Batko, S.4    Albert, R.B.5    Coleman, D.6
  • 6
    • 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 SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T et al. (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 30:3624-31
    • (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
  • 7
    • 29744457502 scopus 로고    scopus 로고
    • Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients
    • Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H et al. (2006) Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients. Carcinogenesis 27:84-94
    • (2006) Carcinogenesis , vol.27 , pp. 84-94
    • Khan, S.G.1    Oh, K.S.2    Shahlavi, T.3    Ueda, T.4    Busch, D.B.5    Inui, H.6
  • 8
    • 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 SG, Sobe T, Emmert S, Khadavi A et al. (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: 974-80
    • (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
  • 9
    • 0033082322 scopus 로고    scopus 로고
    • Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer
    • van Steeg H, Kraemer KH (1999) Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer. Mol Med Today 5:86-94
    • (1999) Mol Med Today , vol.5 , pp. 86-94
    • Van Steeg, H.1    Kraemer, K.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.