메뉴 건너뛰기




Volumn 93, Issue 3, 1998, Pages 467-476

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

(19)  Varon, Raymonda a   Vissinga, Christine b   Platzer, Matthias c   Cerosaletti, Karen M b   Chrzanowska, Krystyna H d   Saar, Kathrin e   Beckmann, Georg e   Seemanová, Eva f   Cooper, Paul R g   Nowak, Norma J g   Stumm, Markus h   Weemaes, Corry M R i   Gatti, Richard A j   Wilson, Richard K k   Digweed, Martin a   Rosenthal, André c   Sperling, Karl a   Concannon, Patrick b   Reis, André a,e  


Author keywords

[No Author keywords available]

Indexed keywords

CONTIG; DEOXYRIBONUCLEOPROTEIN; NIBRIN; UNCLASSIFIED DRUG;

EID: 0032076190     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(00)81174-5     Document Type: Article
Times cited : (890)

References (40)
  • 2
    • 0032488886 scopus 로고    scopus 로고
    • Merging extracellular domains: Fold prediction for laminin G-like and amino-terminal thrombospondin-like modules based on homology to pentraxins
    • Beckmann, G., Hanke, J., Bork, P., and Reich, J.G. (1998). Merging extracellular domains: fold prediction for laminin G-like and amino-terminal thrombospondin-like modules based on homology to pentraxins. J. Mol. Biol. 275, 725-730.
    • (1998) J. Mol. Biol. , vol.275 , pp. 725-730
    • Beckmann, G.1    Hanke, J.2    Bork, P.3    Reich, J.G.4
  • 3
    • 0031046294 scopus 로고    scopus 로고
    • A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins
    • Bork, P., Hofmann, K., Bucher, P., Neuwald, A.F., Altschul, S.F., and Koonin, E.V. (1997). A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins. FASEB J. 11, 68-76.
    • (1997) FASEB J. , vol.11 , pp. 68-76
    • Bork, P.1    Hofmann, K.2    Bucher, P.3    Neuwald, A.F.4    Altschul, S.F.5    Koonin, E.V.6
  • 4
    • 0032076248 scopus 로고    scopus 로고
    • The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
    • Carney, J.P., Maser, R.S., Olivares, H., Davis, E.M., Le Beau, M., Yates, J.R., III, Hays, L., Morgan, W.F., and Petrini, J.H.J. (1998). The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93, this issue, 477-486.
    • (1998) Cell , vol.93 , Issue.THIS ISSUE , pp. 477-486
    • Carney, J.P.1    Maser, R.S.2    Olivares, H.3    Davis, E.M.4    Le Beau, M.5    Yates J.R. III6    Hays, L.7    Morgan, W.F.8    Petrini, J.H.J.9
  • 6
    • 0030805899 scopus 로고    scopus 로고
    • Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia
    • Concannon, P., and Gatti, R.A. (1997). Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum. Mutat. 10, 100-107.
    • (1997) Hum. Mutat. , vol.10 , pp. 100-107
    • Concannon, P.1    Gatti, R.A.2
  • 7
    • 0027457350 scopus 로고
    • Human genetic instability syndromes: Single gene defects with increased risk of cancer
    • Digweed, M. (1993). Human genetic instability syndromes: single gene defects with increased risk of cancer. Toxicol. Lett. 67, 259-281.
    • (1993) Toxicol. Lett. , vol.67 , pp. 259-281
    • Digweed, M.1
  • 8
    • 0029742576 scopus 로고    scopus 로고
    • Human Rad50 is physically associated with human Mre11: Identification of a conserved multiprotein complex implicated in recombinational DNA repair
    • Dolganov, G.M., Maser, R.S., Novikov, A., Tosto, L., Chong, S., Bressan, D.A., and Petrini, J.H. (1996). Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair. Mol. Cell. Biol. 16, 4832-4841.
    • (1996) Mol. Cell. Biol. , vol.16 , pp. 4832-4841
    • Dolganov, G.M.1    Maser, R.S.2    Novikov, A.3    Tosto, L.4    Chong, S.5    Bressan, D.A.6    Petrini, J.H.7
  • 9
    • 0028062781 scopus 로고
    • Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model
    • Gabriel, S.E., Brigman, K.N., Koller, B.H., Boucher, R.C., and Stutts, M.J. (1994). Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 266, 107-109.
    • (1994) Science , vol.266 , pp. 107-109
    • Gabriel, S.E.1    Brigman, K.N.2    Koller, B.H.3    Boucher, R.C.4    Stutts, M.J.5
  • 11
    • 0030808615 scopus 로고    scopus 로고
    • Cell-cycle regulation of mammalian DNA double-strand-break repair
    • Hendrickson, E.A. (1997). Cell-cycle regulation of mammalian DNA double-strand-break repair. Am. J. Hum. Genet. 61, 795-800.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 795-800
    • Hendrickson, E.A.1
  • 12
    • 0029360452 scopus 로고
    • The FHA domain: A putative nuclear signaling domain found in protein kinases and transcription factors
    • Hofmann, K., and Bucher P. (1995). The FHA domain: a putative nuclear signaling domain found in protein kinases and transcription factors. Trends Biochem. Sci. 20, 347-349.
    • (1995) Trends Biochem. Sci. , vol.20 , pp. 347-349
    • Hofmann, K.1    Bucher, P.2
  • 14
    • 0024148621 scopus 로고
    • Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: A survey of 50 patients
    • Jaspers, N.G., Gatti, R.A., Baan, C., Linssen, P.C., and Bootsma, D. (1988a). Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet. Cell Genet. 49, 259-263.
    • (1988) Cytogenet. Cell Genet. , vol.49 , pp. 259-263
    • Jaspers, N.G.1    Gatti, R.A.2    Baan, C.3    Linssen, P.C.4    Bootsma, D.5
  • 15
    • 0023928368 scopus 로고
    • Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: Genetic relationship to ataxia telangiectasia
    • Jaspers, N.G., Taalman, R.D., and Baan, C. (1988b). Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia. Am. J. Hum. Genet. 42, 66-73.
    • (1988) Am. J. Hum. Genet. , vol.42 , pp. 66-73
    • Jaspers, N.G.1    Taalman, R.D.2    Baan, C.3
  • 16
    • 0030786912 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation
    • Jongmans, W., Vuillaume, M., Chrzanowska, K., Smeets, D., Sperling, K., and Hall, J. (1997). Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation. Mol. Cell Biol. 17, 5016-5022.
    • (1997) Mol. Cell Biol. , vol.17 , pp. 5016-5022
    • Jongmans, W.1    Vuillaume, M.2    Chrzanowska, K.3    Smeets, D.4    Sperling, K.5    Hall, J.6
  • 18
    • 0000579784 scopus 로고
    • Chromosome analysis by non-isotopic in situ hybridization
    • D.E. Rooney and B.H. Czepulkowski, eds. (Oxford: IRL Press at Oxford University Press)
    • Lichter, P., and Cremer, T. (1992). Chromosome analysis by non-isotopic in situ hybridization. In Human Cytogenetics: A Practical Approach, Second Edition, D.E. Rooney and B.H. Czepulkowski, eds. (Oxford: IRL Press at Oxford University Press), pp 157-192.
    • (1992) Human Cytogenetics: A Practical Approach, Second Edition , pp. 157-192
    • Lichter, P.1    Cremer, T.2
  • 20
    • 0028880649 scopus 로고
    • Ataxia-telangiectasia and cellular responses to DNA damage
    • Meyn, M.S. (1995). Ataxia-telangiectasia and cellular responses to DNA damage. Cancer Res. 55, 5991-6001.
    • (1995) Cancer Res. , vol.55 , pp. 5991-6001
    • Meyn, M.S.1
  • 22
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita, M., Suzuki, Y., Sekiya, T., and Hayashi, K. (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 23
    • 0023989064 scopus 로고
    • Improved tools for biological sequence comparison
    • Pearson, W.R., and Lipman, D.J. (1988). Improved tools for biological sequence comparison. Proc. Natl. Acad. Sci. USA 85, 2444-2448.
    • (1988) Proc. Natl. Acad. Sci. USA , vol.85 , pp. 2444-2448
    • Pearson, W.R.1    Lipman, D.J.2
  • 29
    • 0026100921 scopus 로고
    • A workbench for multiple alignment construction and analysis
    • Schuler, G.D., Altschul, S.F., and Lipman., D.J. (1991). A workbench for multiple alignment construction and analysis. Proteins 9, 180-190.
    • (1991) Proteins , vol.9 , pp. 180-190
    • Schuler, G.D.1    Altschul, S.F.2    Lipman, D.J.3
  • 32
    • 0031466618 scopus 로고    scopus 로고
    • Ataxia-telangiectasia and the Nijmegen breakage syndrome: Related disorders but genes apart
    • Shiloh, Y. (1997). Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. Annu. Rev. Genet. 31, 635-662.
    • (1997) Annu. Rev. Genet. , vol.31 , pp. 635-662
    • Shiloh, Y.1
  • 33
    • 0030955042 scopus 로고    scopus 로고
    • Noncomplementation of radiation-induced chromosome aberrations in ataxia-telangiectasia/ataxia-telangiectasia-variant heterodikaryons
    • Stumm, M., Sperling, K., and Wegner, R.D. (1997). Noncomplementation of radiation-induced chromosome aberrations in ataxia-telangiectasia/ataxia-telangiectasia-variant heterodikaryons. Am. J. Hum. Genet. 60, 1246-1251.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1246-1251
    • Stumm, M.1    Sperling, K.2    Wegner, R.D.3
  • 34
    • 0020684242 scopus 로고
    • Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen breakage syndrome
    • Taalman, R.D., Jaspers, N.G., Scheres, J.M., de Wit, J., and Hustinx, T.W. (1983). Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen breakage syndrome. Mutat. Res. 112, 23-32.
    • (1983) Mutat. Res. , vol.112 , pp. 23-32
    • Taalman, R.D.1    Jaspers, N.G.2    Scheres, J.M.3    De Wit, J.4    Hustinx, T.W.5
  • 35
    • 0028675644 scopus 로고
    • Recombination and repair. Ku starts at the end
    • Troelstra, C., and Jaspers, N.G. (1994). Recombination and repair. Ku starts at the end. Curr. Biol. 4, 1149-1151.
    • (1994) Curr. Biol. , vol.4 , pp. 1149-1151
    • Troelstra, C.1    Jaspers, N.G.2
  • 37
    • 0031974492 scopus 로고    scopus 로고
    • Identification of two domains of the p70 Ku protein mediating dimerization with p80 and DNA binding
    • Wang, J., Dong, X., Myung, K., Hendrickson, E.A., and Reeves, W.H. (1998). Identification of two domains of the p70 Ku protein mediating dimerization with p80 and DNA binding. J. Biol. Chem. 273, 842-848.
    • (1998) J. Biol. Chem. , vol.273 , pp. 842-848
    • Wang, J.1    Dong, X.2    Myung, K.3    Hendrickson, E.A.4    Reeves, W.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.