메뉴 건너뛰기




Volumn , Issue , 2003, Pages 214-231

Xeroderma pigmentosum, cockayne syndrome and trichothiodystrophy: Sun sensitivity, DNA repair defects and skin cancer

Author keywords

[No Author keywords available]

Indexed keywords


EID: 85057506870     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter
Times cited : (2)

References (161)
  • 1
    • 0003095801 scopus 로고    scopus 로고
    • Nucleotide excision repair syndromes: Xeroderma pigmentosum, Cockayne Syndrome, and trichothiodystrophy
    • Vogelstein B, Kinzler KW, New York: McGraw-Hill
    • Bootsma D, Kraemer KH, Cleaver JE, Hoeijmakers JHJ. Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne Syndrome, and trichothiodystrophy. In: Vogelstein B, Kinzler KW (eds) The genetic basis of human cancer. New York: McGraw-Hill, 1998:245–274.
    • (1998) The Genetic Basis of Human Cancer , pp. 245-274
    • Bootsma, D.1    Kraemer, K.H.2    Cleaver, J.E.3    Hoeijmakers, J.H.J.4
  • 2
    • 0023130695 scopus 로고
    • Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases
    • Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch Dermatol 1987; 123:241–250.
    • (1987) Arch Dermatol , vol.123 , pp. 241-250
    • Kraemer, K.H.1    Lee, M.M.2    Scotto, J.3
  • 3
    • 0016420015 scopus 로고
    • The erythemal action spectrum and deoxyribonucleic acid repair synthesis in xeroderma pigmentosum
    • Ramsay CA, Giannelli F. The erythemal action spectrum and deoxyribonucleic acid repair synthesis in xeroderma pigmentosum. Br J Dermatol 1975; 92:49–56.
    • (1975) Br J Dermatol , vol.92 , pp. 49-56
    • Ramsay, C.A.1    Giannelli, F.2
  • 5
    • 0021282448 scopus 로고
    • DNA repair protects against cutaneous and internal neoplasia: Evidence from xeroderma pigmentosum
    • Kraemer KH, Lee MM, Scotto K. DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum. Carcinogenesis 1984; 5:511–514.
    • (1984) Carcinogenesis , vol.5 , pp. 511-514
    • Kraemer, K.H.1    Lee, M.M.2    Scotto, K.3
  • 6
    • 0025159160 scopus 로고
    • Immune function, mutant frequency and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne’s Syndrome and trichothiodystrophy
    • Norris PG, Limb GA, Hamblin AS, et al. Immune function, mutant frequency and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne’s Syndrome and trichothiodystrophy. J Invest Dermatol 1990; 94: 94–100.
    • (1990) J Invest Dermatol , vol.94 , pp. 94-100
    • Norris, P.G.1    Limb, G.A.2    Hamblin, A.S.3
  • 7
    • 0027194332 scopus 로고
    • Impaired interferon production and natural killer cell activation in patients with the skin cancer prone disorder, xeroderma pigmentosum
    • Gaspari AA, Fleisher TA, Kraemer KH. Impaired interferon production and natural killer cell activation in patients with the skin cancer prone disorder, xeroderma pigmentosum. J Clin Invest 1993; 92:1135–1142.
    • (1993) J Clin Invest , vol.92 , pp. 1135-1142
    • Gaspari, A.A.1    Fleisher, T.A.2    Kraemer, K.H.3
  • 8
    • 0026002969 scopus 로고
    • Long term survival and preservation of natural killer cell activity in a xeroderma pigmentosum patient with spontaneous regression and multiple deposits of malignant melanoma
    • Anstey A, Arlett CF, Cole J, et al. Long term survival and preservation of natural killer cell activity in a xeroderma pigmentosum patient with spontaneous regression and multiple deposits of malignant melanoma. Br J Dermatol 1991; 125:272–278.
    • (1991) Br J Dermatol , vol.125 , pp. 272-278
    • Anstey, A.1    Arlett, C.F.2    Cole, J.3
  • 9
    • 0027941808 scopus 로고
    • Clearing of melanoma-in-situ with intralesional interferon alpha in a patient with xeroderma pigmentosum
    • Turner ML, Moshell AN, Corbett DW, et al. Clearing of melanoma-in-situ with intralesional interferon alpha in a patient with xeroderma pigmentosum. Arch Dermatol 1994; 130:1491–1494.
    • (1994) Arch Dermatol , vol.130 , pp. 1491-1494
    • Turner, M.L.1    Moshell, A.N.2    Corbett, D.W.3
  • 10
    • 0028278589 scopus 로고
    • Evidence that DNA damage is a mediate in ultraviolet B radiation-induced inhibition of human gene expression: Ultraviolet B radiation effects in intercellular adhesion molecule-1 (ICAM-1) expression
    • Krutmann J, Bohnert JE, Jung EG. Evidence that DNA damage is a mediate in ultraviolet B radiation-induced inhibition of human gene expression: ultraviolet B radiation effects in intercellular adhesion molecule-1 (ICAM-1) expression. J Invest Dermatol 1994; 102:428–432.
    • (1994) J Invest Dermatol , vol.102 , pp. 428-432
    • Krutmann, J.1    Bohnert, J.E.2    Jung, E.G.3
  • 11
    • 0026508774 scopus 로고
    • Cockayne syndrome: Review of 140 cases
    • Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42:68–84.
    • (1992) Am J Med Genet , vol.42 , pp. 68-84
    • Nance, M.A.1    Berry, S.A.2
  • 12
    • 0027303168 scopus 로고
    • Cockayne syndrome: Correlation of clinical features with cellular sensitivity of RNA synthesis to UV-irradiation
    • Lehmann AR, Thompson AF, Harcourt SA, et al. Cockayne syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV-irradiation. J Med Genet 1993; 30:679–682.
    • (1993) J Med Genet , vol.30 , pp. 679-682
    • Lehmann, A.R.1    Thompson, A.F.2    Harcourt, S.A.3
  • 13
    • 0025276699 scopus 로고
    • Trichothiodystrophy: Review of sulfurdeficient brittle hair syndromes and association with the ectodermal dysplasias
    • Itin PH, Pittelkow MR. Trichothiodystrophy: review of sulfurdeficient brittle hair syndromes and association with the ectodermal dysplasias. J Am Acad Dermatol 1990; 20:705–717.
    • (1990) J am Acad Dermatol , vol.20 , pp. 705-717
    • Itin, P.H.1    Pittelkow, M.R.2
  • 14
    • 0032231836 scopus 로고    scopus 로고
    • Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: Site of mutation correlates with repair deficiency but gene dosage appears to determine clinical severity
    • Botta E, Nardo T, Broughton BC, et al. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency but gene dosage appears to determine clinical severity. Am J Hum Genet 1998; 63:1036–1048.
    • (1998) Am J Hum Genet , vol.63 , pp. 1036-1048
    • Botta, E.1    Nardo, T.2    Broughton, B.C.3
  • 15
    • 0347448928 scopus 로고
    • Inborn errors of metabolism at the cell culture level
    • Fishbein M, New York: International Medical Congress
    • Gartler SM. Inborn errors of metabolism at the cell culture level. In: Fishbein M (ed.) Second International Conference on Congenital Malformations, New York: International Medical Congress, 1964:94.
    • (1964) Second International Conference on Congenital Malformations , pp. 94
    • Gartler, S.M.1
  • 16
    • 0014421995 scopus 로고
    • Deficiency in repair replication of DNA in xeroderma pigmentosum
    • Cleaver JE. Deficiency in repair replication of DNA in xeroderma pigmentosum. Nature 1968; 218:652–656.
    • (1968) Nature , vol.218 , pp. 652-656
    • Cleaver, J.E.1
  • 17
    • 0015310373 scopus 로고
    • Xeroderma pigmentosum: Variants with normal DNA repair and normal sensitivity to uv light
    • Cleaver JE. Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to uv light. J Invest Dermatol 1972; 58:124–128.
    • (1972) J Invest Dermatol , vol.58 , pp. 124-128
    • Cleaver, J.E.1
  • 18
    • 0000242262 scopus 로고
    • Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation
    • Lehmann AR, Kirk-Bell S, Arlett CF, et al. Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proc Natl Acad Sci USA 1975; 72:219–223.
    • (1975) Proc Natl Acad Sci USA , vol.72 , pp. 219-223
    • Lehmann, A.R.1    Kirk-Bell, S.2    Arlett, C.F.3
  • 19
    • 0017342108 scopus 로고
    • Effect of DNA on the cytotoxicity and mutagenicity of polycyclic hydrocarbon derivatives in normal and xeroderma pigmentosum human fibroblasts
    • Maher VM, McCormick JJ, Grover P, Sims P. Effect of DNA on the cytotoxicity and mutagenicity of polycyclic hydrocarbon derivatives in normal and xeroderma pigmentosum human fibroblasts. Mutation Res 1977; 43:117–138.
    • (1977) Mutation Res , vol.43 , pp. 117-138
    • Maher, V.M.1    McCormick, J.J.2    Grover, P.3    Sims, P.4
  • 20
    • 0027399202 scopus 로고
    • Hypersensitivity of human lymphocytes to UV-B and solar irradiation
    • Arlett CF, Lowe JE, Harcourt SA, et al. Hypersensitivity of human lymphocytes to UV-B and solar irradiation. Cancer Res 1993; 53:609–614.
    • (1993) Cancer Res , vol.53 , pp. 609-614
    • Arlett, C.F.1    Lowe, J.E.2    Harcourt, S.A.3
  • 21
    • 0027221911 scopus 로고
    • Nucleotide excision repair II: From yeast to mammals
    • Hoeijmakers JHJ. Nucleotide excision repair II: from yeast to mammals. Trends Genet 1993; 9:211–217.
    • (1993) Trends Genet , vol.9 , pp. 211-217
    • Hoeijmakers, J.H.J.1
  • 22
    • 0028985014 scopus 로고
    • Transcriptioncoupled repair removes both cyclobutane pyrimidine dimers and 6-4 photoproducts with equal efficiency and in a sequential way from transcribed DNA in xeroderma pigmentosum group C fibroblasts
    • van Hoffen A, Venema J, Meschini R, et al. Transcriptioncoupled repair removes both cyclobutane pyrimidine dimers and 6-4 photoproducts with equal efficiency and in a sequential way from transcribed DNA in xeroderma pigmentosum group C fibroblasts. EMBO J 1995; 14:360–367.
    • (1995) EMBO J , vol.14 , pp. 360-367
    • Van Hoffen, A.1    Venema, J.2    Meschini, R.3
  • 23
    • 0026547088 scopus 로고
    • The XP-D complementation group. Insight into xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
    • Johnson RT, Squires S. The XP-D complementation group. Insight into xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Mutation Res 1992; 273:97–118.
    • (1992) Mutation Res , vol.273 , pp. 97-118
    • Johnson, R.T.1    Squires, S.2
  • 24
    • 0002941473 scopus 로고
    • Effect of DNA repair on the cytotoxicity and mutagenicity of UV irradiation and of chemical carcinogens in normal and xeroderma pigmentosum cells
    • Yuhas JM, Tennant RW, Regan JB, New York: Raven Press
    • Maher VM, McCormick JJ. Effect of DNA repair on the cytotoxicity and mutagenicity of UV irradiation and of chemical carcinogens in normal and xeroderma pigmentosum cells. In: Yuhas JM, Tennant RW, Regan JB(eds) Biology of radiation carcinogenesis. New York: Raven Press, 1976:129–145.
    • (1976) Biology of Radiation Carcinogenesis , pp. 129-145
    • Maher, V.M.1    McCormick, J.J.2
  • 26
    • 0018646697 scopus 로고
    • Ultraviolet light induction of diphtheria toxin-resistant mutants in normal and xeroderma pigmentosum human fibroblasts
    • Glover TW, Chang C-C, Trosko JF, Li SS-I. Ultraviolet light induction of diphtheria toxin-resistant mutants in normal and xeroderma pigmentosum human fibroblasts. Proc Natl Acad Sci USA 1979; 76:3982–3986.
    • (1979) Proc Natl Acad Sci USA , vol.76 , pp. 3982-3986
    • Glover, T.W.1    Chang, C.-C.2    Trosko, J.F.3    Li, S.-I.4
  • 27
    • 0017758738 scopus 로고
    • Induction of sister chromatid exchanges in xeroderma pigmentosum cells after exposure to ultraviolet light
    • de Weerd-Kastelein EA, Keijzer W, Rainaldi G, Bootsma D. Induction of sister chromatid exchanges in xeroderma pigmentosum cells after exposure to ultraviolet light. Mutation Res 1977; 45:253–261.
    • (1977) Mutation Res , vol.45 , pp. 253-261
    • De Weerd-Kastelein, E.A.1    Keijzer, W.2    Rainaldi, G.3    Bootsma, D.4
  • 28
    • 0017161564 scopus 로고
    • The relationship between chromosome damage and cell killing in UV-irradiated normal and xeroderma pigmentosum cells
    • Marshall RR, Scott D. The relationship between chromosome damage and cell killing in UV-irradiated normal and xeroderma pigmentosum cells. Mutation Res 1976; 36: 397–400.
    • (1976) Mutation Res , vol.36 , pp. 397-400
    • Marshall, R.R.1    Scott, D.2
  • 29
    • 0025975758 scopus 로고
    • Molecular analysis of UV-induced mutations in a xeroderma pigmentosum cell line
    • Dorado G, Steingrimsdottir H, Arlett CF, Lehmann AR. Molecular analysis of UV-induced mutations in a xeroderma pigmentosum cell line. J Mol Biol 1991; 217: 217–222.
    • (1991) J Mol Biol , vol.217 , pp. 217-222
    • Dorado, G.1    Steingrimsdottir, H.2    Arlett, C.F.3    Lehmann, A.R.4
  • 30
    • 0026023134 scopus 로고
    • Cell cycle-dependent strand bias for UV-induced mutations in the transcribed strand of excision repair-proficient human fibroblasts but not in repair deficient cells
    • McGregor WG, Chen R-H, Lukash L, et al. Cell cycle-dependent strand bias for UV-induced mutations in the transcribed strand of excision repair-proficient human fibroblasts but not in repair deficient cells. Mol Cell Biol 1991; 11: 1927–1934.
    • (1991) Mol Cell Biol , vol.11 , pp. 1927-1934
    • McGregor, W.G.1    Chen, R.-H.2    Lukash, L.3
  • 31
    • 0027159226 scopus 로고
    • Evidence from mutation spectra that the UV hypermutability of xeroderma pigmentosum variant cells reflects abnormal, error-prone replication on a template containing photoproducts
    • Wang YC, Maher VM, Mitchell DL, McCormick JJ. Evidence from mutation spectra that the UV hypermutability of xeroderma pigmentosum variant cells reflects abnormal, error-prone replication on a template containing photoproducts. Mol Cell Biol 1993; 13: 4276–4283.
    • (1993) Mol Cell Biol , vol.13 , pp. 4276-4283
    • Wang, Y.C.1    Maher, V.M.2    Mitchell, D.L.3    McCormick, J.J.4
  • 32
    • 0023007178 scopus 로고
    • Restricted ultraviolet mutational spectrum in a shuttle vector propagated in xeroderma pigmentosum cells
    • Bredberg A, Kraemer KH, Seidman MM. Restricted ultraviolet mutational spectrum in a shuttle vector propagated in xeroderma pigmentosum cells. Proc Natl Acad Sci USA 1986; 83: 8273–8277.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 8273-8277
    • Bredberg, A.1    Kraemer, K.H.2    Seidman, M.M.3
  • 33
    • 0026536843 scopus 로고
    • Elevated hprt mutant frequency in circulating T-lymphocytes of xeroderma pigmentosum patients
    • Cole J, Arlett CF, Norris PG, et al. Elevated hprt mutant frequency in circulating T-lymphocytes of xeroderma pigmentosum patients. Mutation Res 1992; 273: 171–178.
    • (1992) Mutation Res , vol.273 , pp. 171-178
    • Cole, J.1    Arlett, C.F.2    Norris, P.G.3
  • 34
    • 0027161603 scopus 로고
    • Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors
    • Steingrimsdottir H, Rowley G, Waugh A, et al. Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors. Mutation Res 1993; 294: 29–41.
    • (1993) Mutation Res , vol.294 , pp. 29-41
    • Steingrimsdottir, H.1    Rowley, G.2    Waugh, A.3
  • 35
    • 0027431065 scopus 로고
    • Xeroderma pigmentosum – Cockayne syndrome complex on two new patients: Absence of skin tumors despite severe deficiency of DNA excision repair
    • Scott RJ, Itui P, Kleijer WJ, et al. Xeroderma pigmentosum – Cockayne syndrome complex on two new patients: absence of skin tumors despite severe deficiency of DNA excision repair. J Am Acad Dermatol 1993; 29: 883–889.
    • (1993) J am Acad Dermatol , vol.29 , pp. 883-889
    • Scott, R.J.1    Itui, P.2    Kleijer, W.J.3
  • 36
    • 0028085120 scopus 로고
    • Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
    • Vermeulen W, Scott RJ, Potger S, et al. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet 1994; 54: 191–200.
    • (1994) Am J Hum Genet , vol.54 , pp. 191-200
    • Vermeulen, W.1    Scott, R.J.2    Potger, S.3
  • 37
    • 0024343790 scopus 로고
    • Somatic mosaicism for DNA repair capacity in fibroblasts derived from a group A xeroderma pigmentosum patient
    • Chang HR, Ishizaki K, Sasaki MS, et al. Somatic mosaicism for DNA repair capacity in fibroblasts derived from a group A xeroderma pigmentosum patient. J Invest Dermatol 1989; 93:460–465.
    • (1989) J Invest Dermatol , vol.93 , pp. 460-465
    • Chang, H.R.1    Ishizaki, K.2    Sasaki, M.S.3
  • 38
    • 0024512215 scopus 로고
    • Defective DNA repair in xeroderma pigmentosum and other neurologic diseases
    • Robbins JH. Defective DNA repair in xeroderma pigmentosum and other neurologic diseases. Curr Opin Neurol Neurosurg 1988; 1: 1077–1083.
    • (1988) Curr Opin Neurol Neurosurg , vol.1 , pp. 1077-1083
    • Robbins, J.H.1
  • 39
    • 0002634144 scopus 로고
    • Xeroderma pigmentosum
    • Demis DJ, Dobson RI, McGuire J., Hagerstown: Harper and Row
    • Kraemer KH. Xeroderma pigmentosum. In: Demis DJ, Dobson RI, McGuire J.(eds) Clinical dermatology, Vol. 4, Hagerstown: Harper and Row, 1980:1–33.
    • (1980) Clinical Dermatology , vol.4 , pp. 1-33
    • Kraemer, K.H.1
  • 40
    • 0016297560 scopus 로고
    • Prenatal diagnosis of xeroderma pigmentosum
    • Ramsay CA, Coltart TM, Blunt S, et al. Prenatal diagnosis of xeroderma pigmentosum. Lancet 1974; 2:1109–1112.
    • (1974) Lancet , vol.2 , pp. 1109-1112
    • Ramsay, C.A.1    Coltart, T.M.2    Blunt, S.3
  • 41
    • 0018289419 scopus 로고
    • Prenatal diagnosis of xeroderma pigmentosum (Group C) using assays of unscheduled DNA synthesis and postreplication repair
    • Halley DJJ, Keijzer W, Jaspers NGJ, et al. Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair. Clinic Genet 1979; 16:137–146.
    • (1979) Clinic Genet , vol.16 , pp. 137-146
    • Halley, D.1    Keijzer, W.2    Jaspers, N.3
  • 42
    • 0023911552 scopus 로고
    • Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin
    • Kraemer KH, DiGiovanna JJ, Moshell AN, et al. Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med 1988; 318:1633–1637.
    • (1988) N Engl J Med , vol.318 , pp. 1633-1637
    • Kraemer, K.H.1    Digiovanna, J.J.2    Moshell, A.N.3
  • 43
    • 85057466352 scopus 로고
    • Xeroderma pigmentosum variant: Prevention of cutaneous neoplasms with etretinate
    • Strong A. Xeroderma pigmentosum variant: prevention of cutaneous neoplasms with etretinate. Retinoids 1989; 17:40–42.
    • (1989) Retinoids , vol.17 , pp. 40-42
    • Strong, A.1
  • 44
    • 0027154026 scopus 로고
    • Xeroderma pigmentosum variant: 5 years of tumor suppression by etretinate
    • Berth-Jones J, Cole J, Lehmann AR, et al. Xeroderma pigmentosum variant: 5 years of tumor suppression by etretinate. J Roy Soc Med 1993; 86:355–356.
    • (1993) J Roy Soc Med , vol.86 , pp. 355-356
    • Berth-Jones, J.1    Cole, J.2    Lehmann, A.R.3
  • 45
    • 0017386365 scopus 로고
    • Specific action of T4 endonuclease V on damaged DNA in xeroderma pigmentosum cells in vivo
    • Tanaka K, Hayakawa H, Sekiguchi M, Okada Y. Specific action of T4 endonuclease V on damaged DNA in xeroderma pigmentosum cells in vivo. Proc Natl Acad Sci USA 1977; 74:2958–2962.
    • (1977) Proc Natl Acad Sci USA , vol.74 , pp. 2958-2962
    • Tanaka, K.1    Hayakawa, H.2    Sekiguchi, M.3    Okada, Y.4
  • 46
    • 0035941996 scopus 로고    scopus 로고
    • Effect of topically applied T4 endonuclease V in liposomes on skin cancer in xeroderma pigmentosum: A randomised study. Xeroderma Pigmentosum Study Group
    • Yarosh D, Klein J, O’Connor A, et al. Effect of topically applied T4 endonuclease V in liposomes on skin cancer in xeroderma pigmentosum: a randomised study. Xeroderma Pigmentosum Study Group. Lancet 2001; 357:926–929.
    • (2001) Lancet , vol.357 , pp. 926-929
    • Yarosh, D.1    Klein, J.2    O’Connor, A.3
  • 47
    • 0018328670 scopus 로고
    • Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome
    • Wade MH, Chu EHY. Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome. Mutation Res 1979; 59:49–60.
    • (1979) Mutation Res , vol.59 , pp. 49-60
    • Wade, M.H.1    Chu, E.H.Y.2
  • 48
    • 0018874212 scopus 로고
    • Increased sensitivity of cell strains from Cockayne syndrome to sisterchromatid-exchange induction and cell killing by UV light
    • Marshall RR, Arlett CF, Harcourt SA, Broughton BC. Increased sensitivity of cell strains from Cockayne syndrome to sisterchromatid-exchange induction and cell killing by UV light. Mutation Res 1980; 69:107–112.
    • (1980) Mutation Res , vol.69 , pp. 107-112
    • Marshall, R.R.1    Arlett, C.F.2    Harcourt, S.A.3    Broughton, B.C.4
  • 49
    • 0020066520 scopus 로고
    • Failure of RNA synthesis to recover after UV-irradiation: An early defect in cells from individuals with Cockayne syndrome and xeroderma pigmentosum
    • Mayne LV, Lehmann AR. Failure of RNA synthesis to recover after UV-irradiation: an early defect in cells from individuals with Cockayne syndrome and xeroderma pigmentosum. Cancer Res 1982; 42:1473–1478.
    • (1982) Cancer Res , vol.42 , pp. 1473-1478
    • Mayne, L.V.1    Lehmann, A.R.2
  • 50
    • 0021949497 scopus 로고
    • Prenatal diagnosis of Cockayne syndrome
    • Lehmann AR, Francis AJ, Giannelli F. Prenatal diagnosis of Cockayne syndrome. Lancet 1985; i:486–488.
    • (1985) Lancet , vol.1 , pp. 486-488
    • Lehmann, A.R.1    Francis, A.J.2    Giannelli, F.3
  • 51
    • 0029972595 scopus 로고    scopus 로고
    • Genetic analysis of twenty-two patients with Cockayne syndrome
    • Stefanini M, Fawcett H, Botta E, et al. Genetic analysis of twenty-two patients with Cockayne syndrome. Hum Genet 1996; 97:418–423.
    • (1996) Hum Genet , vol.97 , pp. 418-423
    • Stefanini, M.1    Fawcett, H.2    Botta, E.3
  • 52
    • 0031891880 scopus 로고    scopus 로고
    • Molecular analysis of mutations in the CSB(ERCC6) gene in patients with Cockayne syndrome
    • Mallery DL, Tanganelli B, Colella S, et al. Molecular analysis of mutations in the CSB(ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 1998; 62:77–85.
    • (1998) Am J Hum Genet , vol.62 , pp. 77-85
    • Mallery, D.L.1    Tanganelli, B.2    Colella, S.3
  • 53
    • 0027749417 scopus 로고
    • Deficient repair of the transcribed strand of active genes in Cockayne syndrome cells
    • van Hoffen A, Natarajan AT, Mayne LV, et al. Deficient repair of the transcribed strand of active genes in Cockayne syndrome cells. Nucl Acids Res 1993; 21:5890–5895.
    • (1993) Nucl Acids Res , vol.21 , pp. 5890-5895
    • Van Hoffen, A.1    Natarajan, A.T.2    Mayne, L.V.3
  • 54
    • 84911795011 scopus 로고
    • Photosensitive human syndromes and cellular defects in DNA repair
    • Jones RR, Wigley T, Chichester: Wiley and Sons Ltd
    • Arlett CF, Cole J. Photosensitive human syndromes and cellular defects in DNA repair. In: Jones RR, Wigley T (eds) Ozone depletion: health and environmental consequences. Chichester: Wiley and Sons Ltd, 1989:147–160.
    • (1989) Ozone Depletion: Health and Environmental Consequences , pp. 147-160
    • Arlett, C.F.1    Cole, J.2
  • 55
    • 0019855607 scopus 로고
    • Host cell reactivation of UV-and X-ray-damaged herpes simplex virus by Epstein-Barr Virus (EBV)-transformed lymphoblastoid cell lines
    • Henderson EE, Long WK. Host cell reactivation of UV-and X-ray-damaged herpes simplex virus by Epstein-Barr Virus (EBV)-transformed lymphoblastoid cell lines. Virology 1981; 115:237–248.
    • (1981) Virology , vol.115 , pp. 237-248
    • Henderson, E.E.1    Long, W.K.2
  • 56
    • 0025832774 scopus 로고
    • Photosensitivity and lymphocyte hypermutability in Cockayne syndrome
    • Norris PG, Lehmann AR, Cole J, et al. Photosensitivity and lymphocyte hypermutability in Cockayne syndrome. Br J Dermatol 1991; 124:453–460.
    • (1991) Br J Dermatol , vol.124 , pp. 453-460
    • Norris, P.G.1    Lehmann, A.R.2    Cole, J.3
  • 57
    • 0025098235 scopus 로고
    • Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: Studies using cells from patients with trichothiodystrophy
    • Broughton BC, Lehmann AR, Harcourt SA, et al. Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy. Mutation Res 1990; 235:33–40.
    • (1990) Mutation Res , vol.235 , pp. 33-40
    • Broughton, B.C.1    Lehmann, A.R.2    Harcourt, S.A.3
  • 58
    • 0027262205 scopus 로고
    • Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy
    • Stefanini M, Lagomarsini P, Giliani S, et al. Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis 1993; 14:1101–1105.
    • (1993) Carcinogenesis , vol.14 , pp. 1101-1105
    • Stefanini, M.1    Lagomarsini, P.2    Giliani, S.3
  • 59
    • 16944363270 scopus 로고    scopus 로고
    • A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy
    • Weeda G, Eveno E, Donker I, et al. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am J Hum Genet 1997; 60:320–329.
    • (1997) Am J Hum Genet , vol.60 , pp. 320-329
    • Weeda, G.1    Eveno, E.2    Donker, I.3
  • 60
    • 0027440658 scopus 로고
    • A new nucleotide excision repair gene associated with the genetic disorder trichothiodystrophy
    • Stefanini M, Vermeulen W, Weeda G, et al. A new nucleotide excision repair gene associated with the genetic disorder trichothiodystrophy. Am J Hum Genet 1993; 53:817–821.
    • (1993) Am J Hum Genet , vol.53 , pp. 817-821
    • Stefanini, M.1    Vermeulen, W.2    Weeda, G.3
  • 61
    • 0032993689 scopus 로고    scopus 로고
    • A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
    • Cleaver JE, Thompson LH, Richardson AS, States JC. A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat 1999; 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
  • 62
    • 0026076553 scopus 로고
    • Complementation of DNA repair in xeroderma pigmentosum group A cell extracts by a protein with affinity for damaged DNA
    • Robins P, Jones CJ, Biggerstaff M, et al. Complementation of DNA repair in xeroderma pigmentosum group A cell extracts by a protein with affinity for damaged DNA. EMBO J 1991; 10:3913–3921.
    • (1991) EMBO J , vol.10 , pp. 3913-3921
    • Robins, P.1    Jones, C.J.2    Biggerstaff, M.3
  • 63
    • 0032134423 scopus 로고    scopus 로고
    • Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair
    • Sugasawa K, Ng JM, Masutani C, et al. Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol Cell 1998; 2:223–232.
    • (1998) Mol Cell , vol.2 , pp. 223-232
    • Sugasawa, K.1    Ng, J.M.2    Masutani, C.3
  • 64
    • 17944361949 scopus 로고    scopus 로고
    • Sequential assembly of the nucleotide excision repair factors in vivo
    • Volker M, Mone MJ, Karmakar P, et al. Sequential assembly of the nucleotide excision repair factors in vivo. Mol Cell 2001; 8:213–224.
    • (2001) Mol Cell , vol.8 , pp. 213-224
    • Volker, M.1    Mone, M.J.2    Karmakar, P.3
  • 65
    • 0026625629 scopus 로고
    • Mutational analysis of the structure and function of the xeroderma pigmantosum group A complementing protein
    • Miyamoto I, Miura N, Niwa H, et al. Mutational analysis of the structure and function of the xeroderma pigmantosum group A complementing protein. J Biol Chem 1992; 267:12182–12187.
    • (1992) J Biol Chem , vol.267 , pp. 12182-12187
    • Miyamoto, I.1    Miura, N.2    Niwa, H.3
  • 66
    • 0028047596 scopus 로고
    • Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan
    • Nishigori C, Moriwaki S-I, Takebe H, et al. Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan. Arch Dermatol 1994; 130:191–197.
    • (1994) Arch Dermatol , vol.130 , pp. 191-197
    • Nishigori, C.1    Moriwaki, S.-I.2    Takebe, H.3
  • 67
    • 0029083409 scopus 로고
    • Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA
    • de Vries A, van Oostrom CT, Hofhuis FM, et al. Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature 1995; 377:169–173.
    • (1995) Nature , vol.377 , pp. 169-173
    • De Vries, A.1    Van Oostrom, C.T.2    Hofhuis, F.M.3
  • 68
    • 0029147115 scopus 로고
    • High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene
    • Nakane H, Takeuchi S, Yuba S, et al. High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene. Nature 1995; 377:165–168.
    • (1995) Nature , vol.377 , pp. 165-168
    • Nakane, H.1    Takeuchi, S.2    Yuba, S.3
  • 69
    • 0015982924 scopus 로고
    • Xeroderma pigmentosum: An inherited disease with sun-sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair
    • Robbins JH, Kraemer KH, Lutzner MA, et al. Xeroderma pigmentosum: an inherited disease with sun-sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 1974; 80:221–248.
    • (1974) Ann Intern Med , vol.80 , pp. 221-248
    • Robbins, J.H.1    Kraemer, K.H.2    Lutzner, M.A.3
  • 70
    • 0025158110 scopus 로고
    • A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne syndrome
    • Weeda G, van Ham RCA, Vermeulen W, et al. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne syndrome. Cell 1990; 62:777–791.
    • (1990) Cell , vol.62 , pp. 777-791
    • Weeda, G.1    Van Ham, R.2    Vermeulen, W.3
  • 71
    • 0027905008 scopus 로고
    • DNA repair helicase: A component of BTF2 (TFIIH) basic transcription factor
    • Schaeffer L, Roy R, Humbert S, et al. DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 1993; 260:58–63.
    • (1993) Science , vol.260 , pp. 58-63
    • Schaeffer, L.1    Roy, R.2    Humbert, S.3
  • 73
    • 0032006182 scopus 로고    scopus 로고
    • Dual functions of DNA repair genes: Molecular, cellular, and clinical implications
    • Lehmann AR. Dual functions of DNA repair genes: molecular, cellular, and clinical implications. BioEssays 1998; 20:146–155.
    • (1998) Bioessays , vol.20 , pp. 146-155
    • Lehmann, A.R.1
  • 74
    • 0027174179 scopus 로고
    • Engagement with transcription
    • Bootsma D, Hoeijmakers JHJ. Engagement with transcription. Nature 1993; 363:114–115.
    • (1993) Nature , vol.363 , pp. 114-115
    • Bootsma, D.1    Hoeijmakers, J.H.J.2
  • 75
    • 0028034048 scopus 로고
    • The xeroderma pigmentosum group B protein ERCC3 produced in the baculovirus system exhibits DNA helicase activity
    • Ma L, Siemssen ED, Noteborn M, Van der Eb AJ. The xeroderma pigmentosum group B protein ERCC3 produced in the baculovirus system exhibits DNA helicase activity. Nucl Acids Res 1994; 22:4095–4102.
    • (1994) Nucl Acids Res , vol.22 , pp. 4095-4102
    • Ma, L.1    Siemssen, E.D.2    Noteborn, M.3    Van Der Eb, A.J.4
  • 76
    • 0026453401 scopus 로고
    • RAD25 (SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability
    • Park E, Guzder SN, Koken MHM, et al. RAD25 (SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability. Proc Natl Acad Sci USA 1992; 89:11416–11420.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 11416-11420
    • Park, E.1    Guzder, S.N.2    Koken, M.3
  • 77
    • 0034268691 scopus 로고    scopus 로고
    • Molecular structure of human TFIIH
    • Schultz P, Fribourg S, Poterszman A, et al. Molecular structure of human TFIIH. Cell 2000; 102:599–607.
    • (2000) Cell , vol.102 , pp. 599-607
    • Schultz, P.1    Fribourg, S.2    Poterszman, A.3
  • 78
    • 0033010723 scopus 로고    scopus 로고
    • Reconstitution of the transcription factor TFIIH: Assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7
    • Tirode F, Busso D, Coin F, Egly JM. Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7. Mol Cell 1999; 3:87–95.
    • (1999) Mol Cell , vol.3 , pp. 87-95
    • Tirode, F.1    Busso, D.2    Coin, F.3    Egly, J.M.4
  • 79
    • 0033104514 scopus 로고    scopus 로고
    • 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. Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. EMBO J 1999; 18:1357–1366.
    • (1999) EMBO J , vol.18 , pp. 1357-1366
    • Coin, F.1    Bergmann, E.2    Tremeau-Bravard, A.3    Egly, J.M.4
  • 80
    • 0028673969 scopus 로고
    • Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): Evidence for the existence of a transcription syndrome
    • Vermeulen W, van Vuuren AJ, Chipoulet M, et al. Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome. Cold Spring Harb Symp Quant Biol 1994; 59:317–329.
    • (1994) Cold Spring Harb Symp Quant Biol , vol.59 , pp. 317-329
    • Vermeulen, W.1    Van Vuuren, A.J.2    Chipoulet, M.3
  • 81
    • 0030732132 scopus 로고    scopus 로고
    • Mechanism of open complex and dual incision formation by human nucleotide excision repair factors
    • Evans E, Moggs JG, Hwang JR, et al. Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J 1997; 16:6559–6573.
    • (1997) EMBO J , vol.16 , pp. 6559-6573
    • Evans, E.1    Moggs, J.G.2    Hwang, J.R.3
  • 82
    • 0028269240 scopus 로고
    • Purification and cloning of a nucleotide excision-repair complex involving the xeroderma-pigmentosum group-C protein and a human homolog of yeast RAD23
    • Masutani C, Sugasawa K, Yanagisawa J, et al. Purification and cloning of a nucleotide excision-repair complex involving the xeroderma-pigmentosum group-C protein and a human homolog of yeast RAD23. EMBO J 1994; 13:1831–1843.
    • (1994) EMBO J , vol.13 , pp. 1831-1843
    • Masutani, C.1    Sugasawa, K.2    Yanagisawa, J.3
  • 83
    • 0030944206 scopus 로고    scopus 로고
    • Model for XPC-independent transcriptioncoupled repair of pyrimidine dimers in humans
    • Mu D, Sancar A. Model for XPC-independent transcriptioncoupled repair of pyrimidine dimers in humans. J Biol Chem 1997; 272:7570–7573.
    • (1997) J Biol Chem , vol.272 , pp. 7570-7573
    • Mu, D.1    Sancar, A.2
  • 84
    • 0027370825 scopus 로고
    • Characterization of molecular defects in xeroderma pigmentosum group C
    • Li L, Bales ES, Peterson CA, Legerski RJ. Characterization of molecular defects in xeroderma pigmentosum group C. Nature Genet 1993; 5:413–417.
    • (1993) Nature Genet , vol.5 , pp. 413-417
    • Li, L.1    Bales, E.S.2    Peterson, C.A.3    Legerski, R.J.4
  • 85
    • 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, et al. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein and transcript levels. Cancer Res. 2000; 60:1974–1982.
    • (2000) Cancer Res , vol.60 , pp. 1974-1982
    • Chavanne, F.1    Broughton, B.C.2    Pietra, D.3
  • 86
    • 0028978672 scopus 로고
    • High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC
    • Sands AT, Abuin A, Sanchez A, et al. High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC. Nature 1995; 377:162–165.
    • (1995) Nature , vol.377 , pp. 162-165
    • Sands, A.T.1    Abuin, A.2    Sanchez, A.3
  • 87
    • 0031920594 scopus 로고    scopus 로고
    • Defective global genome repair in XPC mice is associated with skin cancer susceptibility but not with sensitivity to UVB induced erythema and edema
    • Berg RJ, Ruven HJ, Sands AT, et al. Defective global genome repair in XPC mice is associated with skin cancer susceptibility but not with sensitivity to UVB induced erythema and edema. J Invest Dermatol 1998; 110:405–409.
    • (1998) J Invest Dermatol , vol.110 , pp. 405-409
    • Berg, R.J.1    Ruven, H.J.2    Sands, A.T.3
  • 88
    • 0031049126 scopus 로고    scopus 로고
    • Characterization of defective nucleotide excision repair in XPC mutant mice
    • Cheo DL, Ruven HJ, Meira LB, et al. Characterization of defective nucleotide excision repair in XPC mutant mice. Mutat Res 1997; 374:1–9.
    • (1997) Mutat Res , vol.374 , pp. 1-9
    • Cheo, D.L.1    Ruven, H.J.2    Meira, L.B.3
  • 89
    • 0030480945 scopus 로고    scopus 로고
    • Synergistic interactions between xpc and p53 mutations in double-mutant mice: Neural tube abnormalities and accelerated UV radiationinduced skin cancer
    • Cheo DL, Meira LB, Hammer RE, et al. Synergistic interactions between xpc and p53 mutations in double-mutant mice: neural tube abnormalities and accelerated UV radiationinduced skin cancer. Curr Biol 1996; 6:1691–1694.
    • (1996) Curr Biol , vol.6 , pp. 1691-1694
    • Cheo, D.L.1    Meira, L.B.2    Hammer, R.E.3
  • 90
    • 0027379357 scopus 로고
    • Specific UV-induced mutation spectrum in the p53 gene of skin tumors from DNA repair deficient xeroderma pigmentosum patients
    • Dumaz N, Drougar C, Sarasin A, Daya-Grosjean L. Specific UV-induced mutation spectrum in the p53 gene of skin tumors from DNA repair deficient xeroderma pigmentosum patients. Proc Natl Acad Sci USA 1993; 90:10529–10533.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10529-10533
    • Dumaz, N.1    Drougar, C.2    Sarasin, A.3    Daya-Grosjean, L.4
  • 91
    • 0032188764 scopus 로고    scopus 로고
    • P53
    • Giglia G, Dumaz N, Drougard C, et al. p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C. Cancer Res 1998; 58:4402–4409.
    • (1998) Cancer Res , vol.58 , pp. 4402-4409
    • Giglia, G.1    Dumaz, N.2    Drougard, C.3
  • 92
    • 0033609006 scopus 로고    scopus 로고
    • High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum
    • Bodak N, Queille S, Avril MF, et al. High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum. Proc Natl Acad Sci USA 1999; 96:5117–5122.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 5117-5122
    • Bodak, N.1    Queille, S.2    Avril, M.F.3
  • 93
    • 0025250069 scopus 로고
    • ERCC-2: CDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3
    • Weber CA, Salazar EP, Stewart SA, Thompson LH. ERCC-2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. EMBO J 1990; 9:1437–1448.
    • (1990) EMBO J , vol.9 , pp. 1437-1448
    • Weber, C.A.1    Salazar, E.P.2    Stewart, S.A.3    Thompson, L.H.4
  • 94
    • 0026695028 scopus 로고
    • Cloning and characterisation of the S. Pombe rad15 gene, a homologue to the S. cerevisiae RAD3 and human ERCC2 genes
    • Murray JM, Doe C, Schenk P, et al. Cloning and characterisation of the S. pombe rad15 gene, a homologue to the S. cerevisiae RAD3 and human ERCC2 genes. Nucl Acids Res 1992; 20:2673–2678.
    • (1992) Nucl Acids Res , vol.20 , pp. 2673-2678
    • Murray, J.M.1    Doe, C.2    Schenk, P.3
  • 96
    • 0027364921 scopus 로고
    • Human xeroderma pigmentosum group D gene encodes a DNA helicase
    • Sung P, Bailly V, Weber C, et al. Human xeroderma pigmentosum group D gene encodes a DNA helicase. Nature 1993; 365:852–855.
    • (1993) Nature , vol.365 , pp. 852-855
    • Sung, P.1    Bailly, V.2    Weber, C.3
  • 97
    • 0028362248 scopus 로고
    • The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor
    • Schaeffer L, Monocollin V, Roy R, et al. The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor. EMBO J 1994; 13:2388–2392.
    • (1994) EMBO J , vol.13 , pp. 2388-2392
    • Schaeffer, L.1    Monocollin, V.2    Roy, R.3
  • 98
    • 0028810356 scopus 로고
    • Nucleotide excision repair and the link with transcription
    • Lehmann AR. Nucleotide excision repair and the link with transcription. Trends Biochem Sci 1995; 20:402–405.
    • (1995) Trends Biochem Sci , vol.20 , pp. 402-405
    • Lehmann, A.R.1
  • 99
    • 12644310290 scopus 로고    scopus 로고
    • Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene
    • Taylor EM, Broughton BC, Botta E, et al. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci USA 1997; 94:8658–8663.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 8658-8663
    • Taylor, E.M.1    Broughton, B.C.2    Botta, E.3
  • 100
    • 0032085182 scopus 로고    scopus 로고
    • A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy
    • de Boer J, de Wit J, van Steeg H, et al. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol Cell 1998; 1:981–990.
    • (1998) Mol Cell , vol.1 , pp. 981-990
    • De Boer, J.1    De Wit, J.2    Van Steeg, H.3
  • 101
    • 0037123638 scopus 로고    scopus 로고
    • Premature ageing in mice deficient in DNA repair and transcription
    • de Boer J, Andressoo JO, de Wit J, et al. Premature ageing in mice deficient in DNA repair and transcription. Science 2002; 296:1276–1279.
    • (2002) Science , vol.296 , pp. 1276-1279
    • De Boer, J.1    Ressoo, J.O.2    De Wit, J.3
  • 102
    • 0034161270 scopus 로고    scopus 로고
    • UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome
    • Berneburg M, Lowe JE, Nardo T, et al. UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome. EMBO J 2000; 19:1157–1166.
    • (2000) EMBO J , vol.19 , pp. 1157-1166
    • Berneburg, M.1    Lowe, J.E.2    Nardo, T.3
  • 103
    • 0024095589 scopus 로고
    • Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP
    • Sung P, Higgins D, Prakash L, Prakash S. Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP. EMBO J 1988; 7:3263–3269.
    • (1988) EMBO J , vol.7 , pp. 3263-3269
    • Sung, P.1    Higgins, D.2    Prakash, L.3    Prakash, S.4
  • 104
    • 0027760994 scopus 로고
    • Dual roles of a multiprotein complex from S. Cerevisiae in transcription and DNA repair
    • Feaver WJ, Svejstrup JQ, Bardwell L, et al. Dual roles of a multiprotein complex from S. cerevisiae in transcription and DNA repair. Cell 1993; 75:1379–1387.
    • (1993) Cell , vol.75 , pp. 1379-1387
    • Feaver, W.J.1    Svejstrup, J.Q.2    Bardwell, L.3
  • 105
    • 0031666241 scopus 로고    scopus 로고
    • Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH
    • Coin F, Marinoni JC, Rodolfo C, et al. Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nature Genet 1998; 20:184–188.
    • (1998) Nature Genet , vol.20 , pp. 184-188
    • Coin, F.1    Marinoni, J.C.2    Rodolfo, C.3
  • 106
    • 0023803543 scopus 로고
    • Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA
    • Chu G, Chang E. Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA. Science 1988; 242:564–567.
    • (1988) Science , vol.242 , pp. 564-567
    • Chu, G.1    Chang, E.2
  • 107
    • 0027442869 scopus 로고
    • Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum
    • Keeney S, Chang GJ, Linn S. Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum E. J Biol Chem 1993; 268:21293–21300.
    • (1993) E. J Biol Chem , vol.268 , pp. 21293-21300
    • Keeney, S.1    Chang, G.J.2    Linn, S.3
  • 108
    • 0029768095 scopus 로고    scopus 로고
    • Mutations specific to the xeroderma pigmentosum group E Ddb-phenotype
    • Nichols AF, Ong P, Linn S. Mutations specific to the xeroderma pigmentosum group E Ddb-phenotype. J Biol Chem 1996; 40:24317–24320.
    • (1996) J Biol Chem , vol.40 , pp. 24317-24320
    • Nichols, A.F.1    Ong, P.2    Linn, S.3
  • 109
    • 0001232093 scopus 로고    scopus 로고
    • P48 Activates a UVdamaged-DNA binding factor and is defective in xeroderma pigmentosu
    • Hwang BJ, Toering S, Francke U, Chu G. p48 Activates a UVdamaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. Mol Cell Biol 1998; 18:4391–4399.
    • (1998) Mol Cell Biol , vol.18 , pp. 4391-4399
    • Hwang, B.J.1    Toering, S.2    Francke, U.3    Chu, G.4
  • 110
    • 0000516293 scopus 로고    scopus 로고
    • Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair
    • Hwang BJ, Ford JM, Hanawalt PC, Chu G. Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair. Proc Natl Acad Sci USA 1999; 96:424–428.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 424-428
    • Hwang, B.J.1    Ford, J.M.2    Hanawalt, P.C.3    Chu, G.4
  • 111
    • 16044373761 scopus 로고    scopus 로고
    • Xerderma pigmentosum group F caused by a defect in a structurespecific DNA repair endonuclease
    • Sijbers AM, de Laat WL, Ariza RR, et al. Xerderma pigmentosum group F caused by a defect in a structurespecific DNA repair endonuclease. Cell 1996; 86:811–822.
    • (1996) Cell , vol.86 , pp. 811-822
    • Sijbers, A.M.1    De Laat, W.L.2    Ariza, R.R.3
  • 112
    • 0031832670 scopus 로고    scopus 로고
    • Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms
    • Matsumura Y, Nishigori C, Yagi T, et al. Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms. Hum Mol Genet 1998; 7:969–974.
    • (1998) Hum Mol Genet , vol.7 , pp. 969-974
    • Matsumura, Y.1    Nishigori, C.2    Yagi, T.3
  • 113
    • 0027378895 scopus 로고
    • Mice with DNA repair gene (Ercc-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning
    • McWhir J, Selfridge J, Harrison DJ, et al. Mice with DNA repair gene (ercc-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning. Nature Genet 1993; 5:217–223.
    • (1993) Nature Genet , vol.5 , pp. 217-223
    • McWhir, J.1    Selfridge, J.2    Harrison, D.J.3
  • 114
    • 12644266319 scopus 로고    scopus 로고
    • Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence
    • Weeda G, Donker I, de Wit J, et al. Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. Curr Biol 1997; 7:427–439.
    • (1997) Curr Biol , vol.7 , pp. 427-439
    • Weeda, G.1    Donker, I.2    De Wit, J.3
  • 115
    • 0026498944 scopus 로고
    • Removal of nonhomologous DNA ends in double-strand break recombination: The role of the yeast ultraviolet repair gene RAD1
    • Fishman-Lobell J, Haber JE. Removal of nonhomologous DNA ends in double-strand break recombination: the role of the yeast ultraviolet repair gene RAD1. Science 1992; 258:480–484.
    • (1992) Science , vol.258 , pp. 480-484
    • Fishman-Lobell, J.1    Haber, J.E.2
  • 116
    • 0027255962 scopus 로고
    • Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2
    • Scherly D, Nouspikel T, Corlet J, et al. Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. Nature 1993; 363:182–185.
    • (1993) Nature , vol.363 , pp. 182-185
    • Scherly, D.1    Nouspikel, T.2    Corlet, J.3
  • 117
    • 0027385424 scopus 로고
    • Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe
    • MacInnes MA, Dickson JA, Hernandez RR, et al. Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe. Mol Cell Biol 1993; 13:6393–6402.
    • (1993) Mol Cell Biol , vol.13 , pp. 6393-6402
    • Macinnes, M.A.1    Dickson, J.A.2    Hernandez, R.R.3
  • 118
    • 0028341657 scopus 로고
    • Isolation of active recombinant XPG protein, a human DNA repair endonuclease
    • O’Donovan A, Scherly D, Clarkson SG, Wood RD. Isolation of active recombinant XPG protein, a human DNA repair endonuclease. J Biol Chem 1994; 269:15965–15968.
    • (1994) J Biol Chem , vol.269 , pp. 15965-15968
    • O’Donovan, A.1    Scherly, D.2    Clarkson, S.G.3    Wood, R.D.4
  • 119
    • 0028085556 scopus 로고
    • XPG endonuclease makes the 3_ incision in human DNA nucleotide excision repair
    • O’Donovan A, Davies AA, Moggs JG, et al. XPG endonuclease makes the 3_ incision in human DNA nucleotide excision repair. Nature 1994; 371:432–435.
    • (1994) Nature , vol.371 , pp. 432-435
    • O’Donovan, A.1    Davies, A.A.2    Moggs, J.G.3
  • 120
    • 0028983217 scopus 로고
    • XPG protein has a structure-specific endonuclease activity
    • Cloud KG, Shen B, Strniste GF, Park MS. XPG protein has a structure-specific endonuclease activity. Mutat Res 1995; 347:55–60.
    • (1995) Mutat Res , vol.347 , pp. 55-60
    • Cloud, K.G.1    Shen, B.2    Strniste, G.F.3    Park, M.S.4
  • 121
    • 0031013308 scopus 로고    scopus 로고
    • Open complex formation around a lesion during nucleotide excision repair provides a structure for cleavage by human XPG protein
    • Evans E, Fellows J, Coffer A, Wood RD. Open complex formation around a lesion during nucleotide excision repair provides a structure for cleavage by human XPG protein. EMBO J 1997; 16:625–638.
    • (1997) EMBO J , vol.16 , pp. 625-638
    • Evans, E.1    Fellows, J.2    Coffer, A.3    Wood, R.D.4
  • 122
    • 0030990434 scopus 로고    scopus 로고
    • A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: Implications for a second XPG function
    • Nouspikel T, Lalle P, Leadon SA, et al. A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. Proc Natl Acad Sci USA 1997; 94:3116–3121.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 3116-3121
    • Nouspikel, T.1    Lalle, P.2    Leadon, S.A.3
  • 123
    • 0032980573 scopus 로고    scopus 로고
    • Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene
    • Harada YN, Shiomi N, Koike M, et al. Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. Mol Cell Biol 1999; 19:2366–2372.
    • (1999) Mol Cell Biol , vol.19 , pp. 2366-2372
    • Harada, Y.N.1    Shiomi, N.2    Koike, M.3
  • 124
    • 0031025997 scopus 로고    scopus 로고
    • Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G
    • Cooper PK, Nouspikel T, Clarkson SG, Leadon SA. Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G. Science 1997; 275:990–993.
    • (1997) Science , vol.275 , pp. 990-993
    • Cooper, P.K.1    Nouspikel, T.2    Clarkson, S.G.3    Leadon, S.A.4
  • 125
    • 0032973211 scopus 로고    scopus 로고
    • Base excision repair of oxidative DNA damage activated by XPG protein
    • Klungland A, Hoss M, Gunz D, et al. Base excision repair of oxidative DNA damage activated by XPG protein. Mol Cell 1999; 3:33–42.
    • (1999) Mol Cell , vol.3 , pp. 33-42
    • Klungland, A.1    Hoss, M.2    Gunz, D.3
  • 126
    • 0033557139 scopus 로고    scopus 로고
    • Nucleotide excision repair 3´endonuclease XPG stimulates the activity of base excision repair enzyme thymine glycol DNA glycosylase
    • Bessho T. Nucleotide excision repair 3´endonuclease XPG stimulates the activity of base excision repair enzyme thymine glycol DNA glycosylase. Nucl Acids Res 1999; 27:979–983.
    • (1999) Nucl Acids Res , vol.27 , pp. 979-983
    • Bessho, T.1
  • 127
    • 0017309743 scopus 로고
    • Frequency of ultraviolet light-induced mutations is higher in xeroderma pigmentosum variant cells than in normal human cells
    • Maher VM, Ouellette LM, Curren RD, McCormick JJ. Frequency of ultraviolet light-induced mutations is higher in xeroderma pigmentosum variant cells than in normal human cells. Nature 1976; 261:593–595.
    • (1976) Nature , vol.261 , pp. 593-595
    • Maher, V.M.1    Ouellette, L.M.2    Curren, R.D.3    McCormick, J.J.4
  • 128
    • 0018290105 scopus 로고
    • Ultraviolet mutagenesis of normal and xeroderma pigmentosum variant human fibroblasts
    • Myhr BC, Turnbull D, DiPaolo JA. Ultraviolet mutagenesis of normal and xeroderma pigmentosum variant human fibroblasts. Mutation Res 1979; 62:341–353.
    • (1979) Mutation Res , vol.62 , pp. 341-353
    • Myhr, B.C.1    Turnbull, D.2    Dipaolo, J.A.3
  • 129
    • 0016727657 scopus 로고
    • The influence of caffeine on cell survival in excision-proficient and excisiondeficient xeroderma pigmentosum and normal human cell strains following ultraviolet light irradiation
    • Arlett CF, Harcourt SA, Broughton BC. The influence of caffeine on cell survival in excision-proficient and excisiondeficient xeroderma pigmentosum and normal human cell strains following ultraviolet light irradiation. Mutation Res 1975; 33:341–346.
    • (1975) Mutation Res , vol.33 , pp. 341-346
    • Arlett, C.F.1    Harcourt, S.A.2    Broughton, B.C.3
  • 130
    • 0030443024 scopus 로고    scopus 로고
    • DNA polymerase zeta and the control of DNA damage induced mutagenesis in eukaryotes
    • Lawrence CW, Hinkle DC. DNA polymerase zeta and the control of DNA damage induced mutagenesis in eukaryotes. Cancer Surv 1996; 28:21–31.
    • (1996) Cancer Surv , vol.28 , pp. 21-31
    • Lawrence, C.W.1    Hinkle, D.C.2
  • 131
    • 0033578040 scopus 로고    scopus 로고
    • The human XPV (Xeroderma pigmentosum variant) gene encodes human polymerase h
    • Masutani C, Kusumoto R, Yamada A, et al. The human XPV (xeroderma pigmentosum variant) gene encodes human polymerase h. Nature 1999; 399:700–704.
    • (1999) Nature , vol.399 , pp. 700-704
    • Masutani, C.1    Kusumoto, R.2    Yamada, A.3
  • 132
    • 0033564917 scopus 로고    scopus 로고
    • Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity
    • Masutani C, Araki M, Yamada A, et al. Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity. EMBO J 1999; 18:3491–3501.
    • (1999) EMBO J , vol.18 , pp. 3491-3501
    • Masutani, C.1    Araki, M.2    Yamada, A.3
  • 133
    • 0033538470 scopus 로고    scopus 로고
    • RAD30mutations in the variant form of xeroderma pigmentosum
    • Johnson RE, Kondratick CM, Prakash S, Prakash L. RAD30 mutations in the variant form of xeroderma pigmentosum. Science 1999; 285:263–265.
    • (1999) Science , vol.285 , pp. 263-265
    • Johnson, R.E.1    Kondratick, C.M.2    Prakash, S.3    Prakash, L.4
  • 134
    • 0035862988 scopus 로고    scopus 로고
    • Domain structure, localization and function of DNA polymerase h, defective in xeroderma pigmentosum variant cells
    • Kannouche P, Broughton BC, Volker M, et al. Domain structure, localization and function of DNA polymerase h, defective in xeroderma pigmentosum variant cells. Genes Dev 2001; 15:158–172.
    • (2001) Genes Dev , vol.15 , pp. 158-172
    • Kannouche, P.1    Broughton, B.C.2    Volker, M.3
  • 135
    • 18244402410 scopus 로고    scopus 로고
    • Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients
    • Broughton BC, Cordonnier A, Kleijer WJ, et al. Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc Natl Acad Sci USA 2002; 99:815–820.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 815-820
    • Broughton, B.C.1    Cordonnier, A.2    Kleijer, W.J.3
  • 136
    • 0029850732 scopus 로고    scopus 로고
    • Cockayne syndrome–a primary defect in DNA repair, transcription, both or neither?
    • Friedberg EC. Cockayne syndrome–a primary defect in DNA repair, transcription, both or neither? BioEssays 1996; 18:731–738.
    • (1996) Bioessays , vol.18 , pp. 731-738
    • Friedberg, E.C.1
  • 138
    • 0029088143 scopus 로고
    • The Cockayne-syndrome group-A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA-polymerase-II TFIIH
    • Henning KA, Li L, Iyer N, et al. The Cockayne-syndrome group-A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA-polymerase-II TFIIH. Cell 1995; 82:555–564.
    • (1995) Cell , vol.82 , pp. 555-564
    • Henning, K.A.1    Li, L.2    Iyer, N.3
  • 139
    • 0026465665 scopus 로고
    • ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne syndrome and preferential repair of active genes
    • Troelstra C, van Gool A, de Wit J, et al. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne syndrome and preferential repair of active genes. Cell 1992; 71:939–953.
    • (1992) Cell , vol.71 , pp. 939-953
    • Troelstra, C.1    Van Gool, A.2    De Wit, J.3
  • 140
    • 0029157378 scopus 로고
    • Evolution of the SNF2 family of proteins–subfamilies with distinct sequences and functions
    • Eisen JA, Sweder KS, Hanawalt PC. Evolution of the SNF2 family of proteins–subfamilies with distinct sequences and functions. Nucl Acids Res 1995; 23:2715–2723.
    • (1995) Nucl Acids Res , vol.23 , pp. 2715-2723
    • Eisen, J.A.1    Sweder, K.S.2    Hanawalt, P.C.3
  • 141
    • 0031020871 scopus 로고    scopus 로고
    • Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II
    • Selby CP, Sancar A. Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II. J Biol Chem 1997; 272:1885–1890.
    • (1997) J Biol Chem , vol.272 , pp. 1885-1890
    • Selby, C.P.1    Sancar, A.2
  • 142
    • 0030986934 scopus 로고    scopus 로고
    • SWI2/SNF2 and related proteins: ATP-driven motors that disrupt protein-DNA interactions
    • Pazin MJ, Kadonaga JT. SWI2/SNF2 and related proteins: ATP-driven motors that disrupt protein-DNA interactions. Cell 1997; 88:737–740.
    • (1997) Cell , vol.88 , pp. 737-740
    • Pazin, M.J.1    Kadonaga, J.T.2
  • 143
    • 0028095381 scopus 로고
    • Mechanisms of transcription-repair coupling and mutation frequency decline
    • Selby CP, Sancar A. Mechanisms of transcription-repair coupling and mutation frequency decline. Microbiol Rev 1994; 58:317–329.
    • (1994) Microbiol Rev , vol.58 , pp. 317-329
    • Selby, C.P.1    Sancar, A.2
  • 144
    • 0029941444 scopus 로고    scopus 로고
    • The sensitivity of Cockayne’s Syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes
    • van Oosterwijk MF, Versteeg A, Filon R, et al. The sensitivity of Cockayne’s Syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes. Mol Cell Biol 1996; 16:4436–4444.
    • (1996) Mol Cell Biol , vol.16 , pp. 4436-4444
    • Van Oosterwijk, M.F.1    Versteeg, A.2    Filon, R.3
  • 145
    • 0030025947 scopus 로고    scopus 로고
    • Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein
    • Iyer N, Reagan MS, Wu KJ, et al. Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein. Biochemistry 1996; 35:2157–2167.
    • (1996) Biochemistry , vol.35 , pp. 2157-2167
    • Iyer, N.1    Reagan, M.S.2    Wu, K.J.3
  • 146
    • 0030826732 scopus 로고    scopus 로고
    • The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in a RNA polymerase II containing complex
    • van Gool AJ, Citterio E, Rademakers S, et al. The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in a RNA polymerase II containing complex. EMBO J 1997; 16:5955–5965.
    • (1997) EMBO J , vol.16 , pp. 5955-5965
    • Van Gool, A.J.1    Citterio, E.2    Rademakers, S.3
  • 147
    • 0030822591 scopus 로고    scopus 로고
    • Cockayne syndrome group B protein enhances elongation by RNA polymerase II
    • Selby CP, Sancar A. Cockayne syndrome group B protein enhances elongation by RNA polymerase II. Proc Natl Acad Sci USA 1997; 95:11205–11209.
    • (1997) Proc Natl Acad Sci USA , vol.95 , pp. 11205-11209
    • Selby, C.P.1    Sancar, A.2
  • 148
    • 0030667078 scopus 로고    scopus 로고
    • Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexes
    • Tantin D, Kansal A, Carey M. Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexes. Mol Cell Biol 1997; 17:6803–6814.
    • (1997) Mol Cell Biol , vol.17 , pp. 6803-6814
    • Tantin, D.1    Kansal, A.2    Carey, M.3
  • 149
    • 0032561475 scopus 로고    scopus 로고
    • RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62
    • Tantin D. RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62. J Biol Chem 1998; 273:27794–27799.
    • (1998) J Biol Chem , vol.273 , pp. 27794-27799
    • Tantin, D.1
  • 150
    • 0029859295 scopus 로고    scopus 로고
    • UV-induced ubiquitination of RNA polymerase II: A novel modification deficient in Cockayne syndrome cells
    • Bregman DB, Halaban R, van Gool AJ, et al. UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. Proc Natl Acad Sci USA 1996; 93:11586–11590.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 11586-11590
    • Bregman, D.B.1    Halaban, R.2    Van Gool, A.J.3
  • 151
    • 0028109412 scopus 로고
    • RAD26, the functional S. Cerevisiae homolog of the cockayne syndrome B gene ERCC6
    • van Gool AJ, Verhage R, Swagemakers SMA, et al. RAD26, the functional S. cerevisiae homolog of the cockayne syndrome B gene ERCC6. EMBO J 1994; 13:5361–5369.
    • (1994) EMBO J , vol.13 , pp. 5361-5369
    • Van Gool, A.J.1    Verhage, R.2    Swagemakers, S.3
  • 152
    • 0029793038 scopus 로고    scopus 로고
    • Molecular cloning and characterization of Saccharomyces cerevisiae RAD28, the yeast homolog of the human Cockayne Syndrome A (CSA) gene
    • Bhatia PK, Verhage RA, Brouwer J, Friedberg EC. Molecular cloning and characterization of Saccharomyces cerevisiae RAD28, the yeast homolog of the human Cockayne Syndrome A (CSA) gene. J Bacteriol 1996; 178:5977–5988.
    • (1996) J Bacteriol , vol.178 , pp. 5977-5988
    • Bhatia, P.K.1    Verhage, R.A.2    Brouwer, J.3    Friedberg, E.C.4
  • 153
    • 0030916337 scopus 로고    scopus 로고
    • Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition
    • van der Horst GTJ, van Steeg H, Berg RJW, et al. Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell 1997; 89:425–435.
    • (1997) Cell , vol.89 , pp. 425-435
    • Van Der Horst, G.1    Van Steeg, H.2    Berg, R.3
  • 154
    • 0027379353 scopus 로고
    • Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome
    • Leadon SA, Cooper PK. Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome. Proc Natl Acad Sci USA 1993; 90:10499–10503.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10499-10503
    • Leadon, S.A.1    Cooper, P.K.2
  • 155
    • 0034646516 scopus 로고    scopus 로고
    • Transcription-coupled repair of 8-oxoguanine:Requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome
    • Le Page F, Kwoh EE, Avrutskaya A, et al. Transcription-coupled repair of 8-oxoguanine:requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome. Cell 2000; 101:159–171.
    • (2000) Cell , vol.101 , pp. 159-171
    • Le Page, F.1    Kwoh, E.E.2    Avrutskaya, A.3
  • 156
    • 0033768176 scopus 로고    scopus 로고
    • Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
    • Vermeulen W, Bergmann E, Auriol J, et al. Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. Nature Genet 2000; 26:307–313.
    • (2000) Nature Genet , vol.26 , pp. 307-313
    • Vermeulen, W.1    Bergmann, E.2    Auriol, J.3
  • 157
    • 0036850542 scopus 로고    scopus 로고
    • Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy
    • Botta E, Nardo T, Lehmann AR, et al. Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. Hum Mol Genet 2002; 11:2919–2928.
    • (2002) Hum Mol Genet , vol.11 , pp. 2919-2928
    • Botta, E.1    Nardo, T.2    Lehmann, A.R.3
  • 158
    • 18244385279 scopus 로고    scopus 로고
    • Mutations in the general transcription factor TFIIH result in betathalassaemia in individuals with trichothiodystrophy
    • Viprakasit V, Gibbons RJ, Broughton BC, et al. Mutations in the general transcription factor TFIIH result in betathalassaemia in individuals with trichothiodystrophy. Hum Mol Genet 2001; 10:2797–2802.
    • (2001) Hum Mol Genet , vol.10 , pp. 2797-2802
    • Viprakasit, V.1    Gibbons, R.J.2    Broughton, B.C.3
  • 159
    • 0027166864 scopus 로고
    • Mutation hotspots due to sunlight in the p53 gene of nonmelanoma skin cancers
    • Ziegler A, Leffell DJ, Kunala S, et al. Mutation hotspots due to sunlight in the p53 gene of nonmelanoma skin cancers. Proc Natl Acad Sci USA 1993; 90:4216–4220.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 4216-4220
    • Ziegler, A.1    Leffell, D.J.2    Kunala, S.3
  • 160
    • 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, et al. 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 2001; 10:2539–2547.
    • (2001) Hum Mol Genet , vol.10 , pp. 2539-2547
    • Broughton, B.C.1    Berneburg, M.2    Fawcett, H.3
  • 161
    • 0034650773 scopus 로고    scopus 로고
    • The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect
    • Berneburg M, Clingen PH, Harcourt SA, et al. The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect. Cancer Res 2000; 60:431–438.
    • (2000) Cancer Res , vol.60 , pp. 431-438
    • Berneburg, M.1    Clingen, P.H.2    Harcourt, S.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.