메뉴 건너뛰기




Volumn 60, Issue 2, 2000, Pages 431-438

The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; INTERCELLULAR ADHESION MOLECULE 1;

EID: 0034650773     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (44)

References (39)
  • 1
    • 0033118354 scopus 로고    scopus 로고
    • Molecular mechanism of nucleotide excision repair
    • de Laat, W. L., Jaspers, N. G., and Hoeijmakers, J. H. Molecular mechanism of nucleotide excision repair. Genes Dev., 13: 768-785, 1999.
    • (1999) Genes Dev. , vol.13 , pp. 768-785
    • De Laat, W.L.1    Jaspers, N.G.2    Hoeijmakers, J.H.3
  • 2
    • 0029892791 scopus 로고    scopus 로고
    • DNA repair in eukaryotes
    • Wood, R. D. DNA repair in eukaryotes. Annu. Rev. Biochem., 65: 135-167, 1996.
    • (1996) Annu. Rev. Biochem. , vol.65 , pp. 135-167
    • Wood, R.D.1
  • 3
    • 0023130695 scopus 로고
    • Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
    • Kraemer, K. H., Lee, M. M., and Scotto, J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch. Dermatol., 123: 241-250, 1987.
    • (1987) Arch. Dermatol. , vol.123 , pp. 241-250
    • Kraemer, K.H.1    Lee, M.M.2    Scotto, J.3
  • 4
    • 0025276699 scopus 로고
    • Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
    • Itin, P. H., and Pittelkow, M. R. Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. J. Am. Acad. Dermatol., 20: 705-717, 1990.
    • (1990) J. Am. Acad. Dermatol. , vol.20 , pp. 705-717
    • Itin, P.H.1    Pittelkow, M.R.2
  • 5
    • 0022868911 scopus 로고
    • Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
    • Stefanini, M., Lagomarsini, P., Arlett, C. F., Marinoni, S., Borrone, C., Crovato, F., Trevisan, G., Cordone, G., and Nuzzo, F. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum. Genet., 74: 107-112, 1986.
    • (1986) Hum. Genet. , vol.74 , pp. 107-112
    • Stefanini, M.1    Lagomarsini, P.2    Arlett, C.F.3    Marinoni, S.4    Borrone, C.5    Crovato, F.6    Trevisan, G.7    Cordone, G.8    Nuzzo, F.9
  • 8
  • 11
    • 0019720575 scopus 로고
    • Some DNA-repair-deficient human syndromes and their implications for human health
    • Bridges, B. A. Some DNA-repair-deficient human syndromes and their implications for human health. Proc. R. Soc. Lond. Ser. B Biol. Sci., 212: 263-278, 1981.
    • (1981) Proc. R. Soc. Lond. Ser. b Biol. Sci. , vol.212 , pp. 263-278
    • Bridges, B.A.1
  • 12
    • 0019862109 scopus 로고
    • Cancer associated human genetic diseases with defects in DNA repair
    • Lehmann, A. R. Cancer associated human genetic diseases with defects in DNA repair. J. Cancer Res. Clin. Oncol., 100: 117-124, 1981.
    • (1981) J. Cancer Res. Clin. Oncol. , vol.100 , pp. 117-124
    • Lehmann, A.R.1
  • 13
    • 0025159160 scopus 로고
    • Immune function, mutant frequency and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy
    • Norris, P. G., Limb, G. A., Hamblin, A. S., Lehmann, A. R., Arlett, C. F., Cole, J., Waugh, A. P. W., and Hawk, J. L. M. Immune function, mutant frequency and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. J. Investig. Dermatol., 94: 94-100, 1990.
    • (1990) J. Investig. Dermatol. , vol.94 , pp. 94-100
    • Norris, P.G.1    Limb, G.A.2    Hamblin, A.S.3    Lehmann, A.R.4    Arlett, C.F.5    Cole, J.6    Waugh, A.P.W.7    Hawk, J.L.M.8
  • 14
    • 0027194332 scopus 로고
    • Impaired interferon production and natural killer cell activation in patients with the skin cancer prone disorder, xeroderma pigmentosum
    • Gaspari, A. A., Fleisher, T. A., and Kraemer, K. H. Impaired interferon production and natural killer cell activation in patients with the skin cancer prone disorder, xeroderma pigmentosum. J. Clin. Investig., 92: 1135-1142, 1993.
    • (1993) J. Clin. Investig. , vol.92 , pp. 1135-1142
    • Gaspari, A.A.1    Fleisher, T.A.2    Kraemer, K.H.3
  • 16
    • 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, J. E., and Jung, E. G. 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. Investig. Dermatol., 102: 428-432, 1994.
    • (1994) J. Investig. Dermatol. , vol.102 , pp. 428-432
    • Krutmann, J.1    Bohnert, J.E.2    Jung, E.G.3
  • 17
    • 0028176866 scopus 로고
    • Lesional expression of interferon-γ in atopic eczema
    • Grewe, M., Gyufko, K., Schopf, E., and Krutmann, J. Lesional expression of interferon-γ in atopic eczema. Lancet, 343: 25-26, 1994.
    • (1994) Lancet , vol.343 , pp. 25-26
    • Grewe, M.1    Gyufko, K.2    Schopf, E.3    Krutmann, J.4
  • 20
    • 0029972595 scopus 로고    scopus 로고
    • Genetic analysis of twenty-two patients with Cockayne syndrome
    • Stefanini, M., Fawcett, H., Botta, E., Nardo, T., and Lehmann, A. R. Genetic analysis of twenty-two patients with Cockayne syndrome. Hum. Genet., 97: 418-423, 1996.
    • (1996) Hum. Genet. , vol.97 , pp. 418-423
    • Stefanini, M.1    Fawcett, H.2    Botta, E.3    Nardo, T.4    Lehmann, A.R.5
  • 21
    • 0019168178 scopus 로고
    • Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation
    • Lond.
    • Arlett, C. F., Harcourt, S. A., Lehmann, A. R., Stevens, S., Ferguson-Smith, M. A., and Morley, W. N. Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation. Carcinogenesis (Lond.), 1: 745-751, 1980.
    • (1980) Carcinogenesis , vol.1 , pp. 745-751
    • Arlett, C.F.1    Harcourt, S.A.2    Lehmann, A.R.3    Stevens, S.4    Ferguson-Smith, M.A.5    Morley, W.N.6
  • 23
    • 0028358988 scopus 로고
    • Mutations in the xeroderma pigmentosum group D DNA repair gene in patients with trichothiodystrophy
    • Broughton, B. C., Steingrimsdottir, H., Weber, C., and Lehmann, A. R. Mutations in the xeroderma pigmentosum group D DNA repair gene in patients with trichothiodystrophy. Nat. Genet., 7: 189-194, 1994.
    • (1994) Nat. Genet. , vol.7 , pp. 189-194
    • Broughton, B.C.1    Steingrimsdottir, H.2    Weber, C.3    Lehmann, A.R.4
  • 24
    • 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, B. C., Marinoni, S., Lehmann, A. R., and Stefanini, M. 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., 63: 190-196, 1998.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 190-196
    • Botta, E.1    Nardo, T.2    Broughton, B.C.3    Marinoni, S.4    Lehmann, A.R.5    Stefanini, M.6
  • 25
    • 0023902319 scopus 로고
    • Kinetic analysis of UV induced incision discriminates between fibroblasts from different xeroderma pigmentosum complementation groups, XP-A heterozygotes and normal individuals
    • Squires, S., and Johnson, R. T. Kinetic analysis of UV induced incision discriminates between fibroblasts from different xeroderma pigmentosum complementation groups, XP-A heterozygotes and normal individuals. Mutat. Res., 193: 181-192, 1988.
    • (1988) Mutat. Res. , vol.193 , pp. 181-192
    • Squires, S.1    Johnson, R.T.2
  • 26
    • 0026501421 scopus 로고
    • UV-C sensitivity of unstimulated and stimulated human lymphocytes from normal and xeroderma pigmentosum donors in the Comet assay: A potential diagnostic technique
    • Green, M. H. L., Lowe, J. E., Harcourt, S. A., Akinluyi, P., Rowe, T., Cole, J., Anstey, A. V., and Arlett, C. F. UV-C sensitivity of unstimulated and stimulated human lymphocytes from normal and xeroderma pigmentosum donors in the Comet assay: a potential diagnostic technique. Mutat. Res., 273: 137-144, 1992.
    • (1992) Mutat. Res. , vol.273 , pp. 137-144
    • Green, M.H.L.1    Lowe, J.E.2    Harcourt, S.A.3    Akinluyi, P.4    Rowe, T.5    Cole, J.6    Anstey, A.V.7    Arlett, C.F.8
  • 28
    • 0026695028 scopus 로고
    • Cloning and characterisation of the S. pombe rad15 gene, a homologue to the S. cerevisiae RAD3 and human ERCC2 genes
    • Murray, J. M., Doe, C., Schenk, P., Carr, A. M., Lehmann, A. R., and Watts, F. Z. Cloning and characterisation of the S. pombe rad15 gene, a homologue to the S. cerevisiae RAD3 and human ERCC2 genes. Nucleic Acids Res., 20: 2673-2678. 1992.
    • (1992) Nucleic Acids Res. , vol.20 , pp. 2673-2678
    • Murray, J.M.1    Doe, C.2    Schenk, P.3    Carr, A.M.4    Lehmann, A.R.5    Watts, F.Z.6
  • 31
    • 0029096805 scopus 로고
    • Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells
    • Marionnet, C., Benoit, A., Benhamou, S., Sarasin, A., and Stary, A. Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells. J. Mol. Biol., 252: 550-562, 1995.
    • (1995) J. Mol. Biol. , vol.252 , pp. 550-562
    • Marionnet, C.1    Benoit, A.2    Benhamou, S.3    Sarasin, A.4    Stary, A.5
  • 32
    • 0019441210 scopus 로고
    • How important are somatic mutations and immune control in skin cancer? Reflections on xeroderma pigmentosum
    • Lond.
    • Bridges, B. A. How important are somatic mutations and immune control in skin cancer? Reflections on xeroderma pigmentosum. Carcinogenesis (Lond.), 2: 471-472, 1981.
    • (1981) Carcinogenesis , vol.2 , pp. 471-472
    • Bridges, B.A.1
  • 34
    • 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., and 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., 7: 3263-3269, 1988.
    • (1988) EMBO J. , vol.7 , pp. 3263-3269
    • Sung, P.1    Higgins, D.2    Prakash, L.3    Prakash, S.4
  • 36
    • 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, J. C., Rodolfo, C., Fribourg, S., Pedrini, A. M., and Egly, J. M. Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nat. Genet., 20: 184-188, 1998.
    • (1998) Nat. Genet. , vol.20 , pp. 184-188
    • Coin, F.1    Marinoni, J.C.2    Rodolfo, C.3    Fribourg, S.4    Pedrini, A.M.5    Egly, J.M.6
  • 37
    • 0025098235 scopus 로고
    • Relationship between pyrimidine dimers. 6-4 photoproducts, repair synthesis and cell survival: Studies using cells from patients with trichothiodystrophy
    • Broughton, B. C., Lehmann, A. R., Harcourt, S. A., Arlett, C. F., Sarasin, A., Kleijer, W. J., Beemer, F. A., Nairn, R., and Mitchell, D. L. Relationship between pyrimidine dimers. 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy. Mutat. Res., 235: 33-40, 1990.
    • (1990) Mutat. Res. , vol.235 , pp. 33-40
    • Broughton, B.C.1    Lehmann, A.R.2    Harcourt, S.A.3    Arlett, C.F.4    Sarasin, A.5    Kleijer, W.J.6    Beemer, F.A.7    Nairn, R.8    Mitchell, D.L.9
  • 38
    • 0023279280 scopus 로고
    • Xeroderma pigmentosum complementation group G-report of two cases
    • Norris, P. G., Hawk, J. L. M., Avery, J. A., and Giannelli, F. Xeroderma pigmentosum complementation group G-report of two cases. Br. J. Dermatol., 116: 861-866, 1987.
    • (1987) Br. J. Dermatol. , vol.116 , pp. 861-866
    • Norris, P.G.1    Hawk, J.L.M.2    Avery, J.A.3    Giannelli, F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.