메뉴 건너뛰기




Volumn 27, Issue 3, 2012, Pages 337-343

Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE H2AX; HISTONE H2AX GAMMA; NBN PROTEIN; NIBRIN; NUCLEAR PROTEIN; UNCLASSIFIED DRUG;

EID: 84860204988     PISSN: 02678357     EISSN: 14643804     Source Type: Journal    
DOI: 10.1093/mutage/ger084     Document Type: Article
Times cited : (12)

References (74)
  • 1
    • 0142011461 scopus 로고    scopus 로고
    • The cellular response to DNA double-strand breaks: Defining the sensors and mediators
    • Petrini, J. H. J. and Stracker, T. H. (2003) The cellular response to DNA double-strand breaks: defining the sensors and mediators. Trends Cell Biol., 13, 458-462.
    • (2003) Trends Cell Biol. , vol.13 , pp. 458-462
    • Petrini, J.H.J.1    Stracker, T.H.2
  • 3
    • 50849141104 scopus 로고    scopus 로고
    • Early events in the mammalian response to DNA double-strand breaks
    • Riches, L. C., Lynch, A. M. and Gooderham, N. J. (2008) Early events in the mammalian response to DNA double-strand breaks. Mutagenesis, 23, 331-339.
    • (2008) Mutagenesis , vol.23 , pp. 331-339
    • Riches, L.C.1    Lynch, A.M.2    Gooderham, N.J.3
  • 4
    • 0036510055 scopus 로고    scopus 로고
    • The DNA damage-dependent intra-S phase checkpoint is regulated by parallel pathways
    • Falck, J., Petrini, J. H., Williams, B. R., Lukas, J. and Bartek, J. (2002) The DNA damage-dependent intra-S phase checkpoint is regulated by parallel pathways. Nat. Genet., 30, 290-294.
    • (2002) Nat. Genet. , vol.30 , pp. 290-294
    • Falck, J.1    Petrini, J.H.2    Williams, B.R.3    Lukas, J.4    Bartek, J.5
  • 6
    • 27544460105 scopus 로고    scopus 로고
    • Roles of nibrin and ATM/ATR kinases on the G2 checkpoint under endogenous or radio-induced DNA damage
    • Marcelain, K., de la Torre, C., González, P. and Pincheira, J. (2005) Roles of nibrin and ATM/ATR kinases on the G2 checkpoint under endogenous or radio-induced DNA damage. Biol. Res., 38, 179-185.
    • (2005) Biol. Res. , vol.38 , pp. 179-185
    • Marcelain, K.1    De La Torre, C.2    González, P.3    Pincheira, J.4
  • 8
    • 34548213632 scopus 로고    scopus 로고
    • The Mre11 complex mediates the S-phase checkpoint through an interaction with replication protein A
    • Olson, E., Nievera, C. J., Liu, E., Lee, A. Y., Chen, L. and Wu, X. (2007) The Mre11 complex mediates the S-phase checkpoint through an interaction with replication protein A. Mol. Cell. Biol., 27, 6053-6067.
    • (2007) Mol. Cell. Biol. , vol.27 , pp. 6053-6067
    • Olson, E.1    Nievera, C.J.2    Liu, E.3    Lee, A.Y.4    Chen, L.5    Wu, X.6
  • 9
    • 29144450333 scopus 로고    scopus 로고
    • The Rad50S allele promotes ATM-dependent DNA damage responses and suppresses ATM deficiency: Implications for the Mre11 complex as a DNA damage sensor
    • Morales, M., Theunissen, J. W., Kim, C. F., Kitagawa, R., Kastan, M. B. and Petrini, J. H. (2005) The Rad50S allele promotes ATM-dependent DNA damage responses and suppresses ATM deficiency: implications for the Mre11 complex as a DNA damage sensor. Genes Dev., 19, 3043-3054.
    • (2005) Genes Dev. , vol.19 , pp. 3043-3054
    • Morales, M.1    Theunissen, J.W.2    Kim, C.F.3    Kitagawa, R.4    Kastan, M.B.5    Petrini, J.H.6
  • 10
    • 34248579748 scopus 로고    scopus 로고
    • The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex
    • Stracker, T. H., Morales, M., Couto, S. S., Hussein, H. and Petrini, J. H. (2007) The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex. Nature, 447, 218-221.
    • (2007) Nature , vol.447 , pp. 218-221
    • Stracker, T.H.1    Morales, M.2    Couto, S.S.3    Hussein, H.4    Petrini, J.H.5
  • 13
    • 62449332005 scopus 로고    scopus 로고
    • Inactivation of the Nijmegen breakage syndrome gene leads to excess centrosome duplication via the ATR/BRCA1 pathway
    • Shimada, M., Sagae, R., Kobayashi, J., Habu, T. and Komatsu, K. (2009) Inactivation of the Nijmegen breakage syndrome gene leads to excess centrosome duplication via the ATR/BRCA1 pathway. Cancer Res., 69, 1768-1775.
    • (2009) Cancer Res. , vol.69 , pp. 1768-1775
    • Shimada, M.1    Sagae, R.2    Kobayashi, J.3    Habu, T.4    Komatsu, K.5
  • 14
    • 34547686372 scopus 로고    scopus 로고
    • The multiple roles of the Mre11 complex for meiotic recombination
    • Borde, V. (2007) The multiple roles of the Mre11 complex for meiotic recombination. Chromosome Res., 15, 551-563.
    • (2007) Chromosome Res. , vol.15 , pp. 551-563
    • Borde, V.1
  • 15
    • 33645800789 scopus 로고    scopus 로고
    • The involvement of the Mre11/Rad50/Nbs1 complex in the generation of G-overhangs at human telomeres
    • Chai, W., Sfeir, A. J., Hoshiyama, H., Shay, J. W. and Wright, W. E. (2006) The involvement of the Mre11/Rad50/Nbs1 complex in the generation of G-overhangs at human telomeres. EMBO Rep., 7, 225-230.
    • (2006) EMBO Rep. , vol.7 , pp. 225-230
    • Chai, W.1    Sfeir, A.J.2    Hoshiyama, H.3    Shay, J.W.4    Wright, W.E.5
  • 16
    • 33750006616 scopus 로고    scopus 로고
    • The role of DNA damage response proteins at telomeres-an "integrative" model
    • Slijepcevic, P. (2006) The role of DNA damage response proteins at telomeres-an "integrative" model. DNA Repair (Amst.), 5, 1299-1306.
    • (2006) DNA Repair (Amst.) , vol.5 , pp. 1299-1306
    • Slijepcevic, P.1
  • 17
    • 1942437416 scopus 로고    scopus 로고
    • Delineation of the role of the Mre11 complex in class switch recombination
    • Lähdesmäki, A., Taylor, A. M., Chrzanowska, K. H. and Pan- Hammarström, Q. (2004) Delineation of the role of the Mre11 complex in class switch recombination. J. Biol. Chem., 279, 16479-16487.
    • (2004) J. Biol. Chem. , vol.279 , pp. 16479-16487
    • Lähdesmäki, A.1    Taylor, A.M.2    Chrzanowska, K.H.3    Pan-Hammarström, Q.4
  • 18
    • 13444309097 scopus 로고    scopus 로고
    • Genomic instability, endoreduplication and diminished Ig class-switch recombination in B cells lacking Nbs1
    • Reina-San-Martin, B., Nussenzweig, M. C., Nussenzweig, A. and Difilippantonio, S. (2005) Genomic instability, endoreduplication and diminished Ig class-switch recombination in B cells lacking Nbs1. Proc. Natl. Acad. Sci. U S A, 102, 1590-1595.
    • (2005) Proc. Natl. Acad. Sci. U S A , vol.102 , pp. 1590-1595
    • Reina-San-Martin, B.1    Nussenzweig, M.C.2    Nussenzweig, A.3    Difilippantonio, S.4
  • 19
    • 47049106762 scopus 로고    scopus 로고
    • Structure of a second BRCT domain identified in the Nijmegen breakage syndrome protein Nbs1 and its function in an MDC1-dependent localization of Nbs1 to DNA damage sites
    • Xu, C., Wu, L., Cui, G., Botuyan, M. V., Chen, J. and Mer, G. (2008) Structure of a second BRCT domain identified in the Nijmegen breakage syndrome protein Nbs1 and its function in an MDC1-dependent localization of Nbs1 to DNA damage sites. J. Mol. Biol., 381, 361-372.
    • (2008) J. Mol. Biol. , vol.381 , pp. 361-372
    • Xu, C.1    Wu, L.2    Cui, G.3    Botuyan, M.V.4    Chen, J.5    Mer, G.6
  • 21
    • 77951879405 scopus 로고    scopus 로고
    • A divalent FHA/BRCT-binding mechanism couples the MRE11-RAD50- NBS1 complex to damaged chromatin
    • Hari, F. J., Spycher, C., Jungmichel, S., Pavic, L. and Stucki, M. (2010) A divalent FHA/BRCT-binding mechanism couples the MRE11-RAD50- NBS1 complex to damaged chromatin. EMBO Rep., 11, 387-392.
    • (2010) EMBO Rep. , vol.11 , pp. 387-392
    • Hari, F.J.1    Spycher, C.2    Jungmichel, S.3    Pavic, L.4    Stucki, M.5
  • 22
    • 0035936554 scopus 로고    scopus 로고
    • Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice
    • Zhu, J., Petersen, S., Tessarollo, L. and Nussenzweig, A. (2001) Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice. Curr. Biol., 11, 105-109.
    • (2001) Curr. Biol. , vol.11 , pp. 105-109
    • Zhu, J.1    Petersen, S.2    Tessarollo, L.3    Nussenzweig, A.4
  • 23
    • 3242892589 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome: Clinical manifestation of defective response to DNA double-strand breaks
    • Digweed, M. and Sperling, K. (2004) Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst.), 3, 1207-1217.
    • (2004) DNA Repair (Amst.) , vol.3 , pp. 1207-1217
    • Digweed, M.1    Sperling, K.2
  • 25
    • 0033008552 scopus 로고    scopus 로고
    • Immortalization and characterization of Nijmegen breakage syndrome fibroblasts
    • Kraakman-van der Zwet, M., Overkamp, W. J., Friedl, A. A. et al. (1999) Immortalization and characterization of Nijmegen breakage syndrome fibroblasts. Mutat. Res., 434, 17-27.
    • (1999) Mutat. Res. , vol.434 , pp. 17-27
    • Kraakman-Van Der Zwet, M.1    Overkamp, W.J.2    Friedl, A.A.3
  • 26
    • 36549078680 scopus 로고    scopus 로고
    • DNA double-strand break and chromosomal rejoining defects with misrejoining in Nijmegen breakage syndrome cells
    • Pluth, J. M., Yamazaki, V., Cooper, B. A., Rydberg, B. E., Kirchgessner, C. U. and Cooper, P. K. (2008) DNA double-strand break and chromosomal rejoining defects with misrejoining in Nijmegen breakage syndrome cells. DNA Repair (Amst.), 7, 108-118.
    • (2008) DNA Repair (Amst.) , vol.7 , pp. 108-118
    • Pluth, J.M.1    Yamazaki, V.2    Cooper, B.A.3    Rydberg, B.E.4    Kirchgessner, C.U.5    Cooper, P.K.6
  • 27
    • 0035068565 scopus 로고    scopus 로고
    • An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele
    • Maser, R. S., Zinkel, R. and Petrini, J. H. (2001) An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat. Genet., 27, 417-421.
    • (2001) Nat. Genet. , vol.27 , pp. 417-421
    • Maser, R.S.1    Zinkel, R.2    Petrini, J.H.3
  • 29
    • 0025268280 scopus 로고
    • An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability
    • Seemanová, E. (1990) An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Mutat. Res., 238, 321-324.
    • (1990) Mutat. Res. , vol.238 , pp. 321-324
    • Seemanová, E.1
  • 30
    • 50049099559 scopus 로고    scopus 로고
    • The importance of making ends meet: Mutations in genes and altered expression of proteins of the MRN complex and cancer
    • Dzikiewicz-Krawczyk, A. (2008) The importance of making ends meet: mutations in genes and altered expression of proteins of the MRN complex and cancer. Mutat. Res., 659, 262-273.
    • (2008) Mutat. Res. , vol.659 , pp. 262-273
    • Dzikiewicz-Krawczyk, A.1
  • 31
    • 41149127607 scopus 로고    scopus 로고
    • The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: Molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients
    • di Masi, A., Viganotti, M., Polticelli, F., Ascenzi, P., Tanzarella, C. and Antoccia, A. (2008) The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients. Biochem. Biophys. Res. Commun., 369, 835-840.
    • (2008) Biochem. Biophys. Res. Commun. , vol.369 , pp. 835-840
    • Di Masi, A.1    Viganotti, M.2    Polticelli, F.3    Ascenzi, P.4    Tanzarella, C.5    Antoccia, A.6
  • 32
    • 5044248651 scopus 로고    scopus 로고
    • First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability
    • Shimada, H., Shimizu, K., Mimaki, S. et al. (2004) First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. Hum. Genet., 115, 372-376.
    • (2004) Hum. Genet. , vol.115 , pp. 372-376
    • Shimada, H.1    Shimizu, K.2    Mimaki, S.3
  • 33
    • 33746130359 scopus 로고    scopus 로고
    • Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia
    • Mosor, M., Ziółkowska, I., Pernak-Schwarz, M., Januszkiewicz- Lewandowska, D. and Nowak, J. (2006) Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia. Leukemia, 20, 1454-1456.
    • (2006) Leukemia , vol.20 , pp. 1454-1456
    • Mosor, M.1    Ziółkowska, I.2    Pernak-Schwarz, M.3    Januszkiewicz- Lewandowska, D.4    Nowak, J.5
  • 35
    • 18544368845 scopus 로고    scopus 로고
    • The G2 chromosomal radiosensitivity assay
    • Bryant, P. E., Gray, L., Riches, A. C. et al. (2002) The G2 chromosomal radiosensitivity assay. Int. J. Radiat. Biol., 78, 863-866.
    • (2002) Int. J. Radiat. Biol. , vol.78 , pp. 863-866
    • Bryant, P.E.1    Gray, L.2    Riches, A.C.3
  • 37
    • 69349087650 scopus 로고    scopus 로고
    • Clinical variability and expression of the NBN c.657del5 allele in Nijmegen breakage syndrome
    • Lins, S., Kim, R., Krüger, L., Chrzanowska, K. H., Seemanova, E. and Digweed, M. (2009) Clinical variability and expression of the NBN c.657del5 allele in Nijmegen breakage syndrome. Gene, 447, 12-17.
    • (2009) Gene , vol.447 , pp. 12-17
    • Lins, S.1    Kim, R.2    Krüger, L.3    Chrzanowska, K.H.4    Seemanova, E.5    Digweed, M.6
  • 38
    • 0038364116 scopus 로고    scopus 로고
    • Chromosome instability and nibrin protein variants in NBS heterozygotes
    • Tanzarella, C., Antoccia, A., Spadoni, E. et al. (2003) Chromosome instability and nibrin protein variants in NBS heterozygotes. Eur. J. Hum. Genet., 11, 297-303.
    • (2003) Eur. J. Hum. Genet. , vol.11 , pp. 297-303
    • Tanzarella, C.1    Antoccia, A.2    Spadoni, E.3
  • 39
    • 0034938838 scopus 로고    scopus 로고
    • High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome
    • Stumm, M., Neubauer, S., Keindorff, S., Wegner, R. D., Wieacker, P. and Sauer, R. (2001) High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome. Cytogenet. Cell Genet., 92, 186-191.
    • (2001) Cytogenet. Cell Genet. , vol.92 , pp. 186-191
    • Stumm, M.1    Neubauer, S.2    Keindorff, S.3    Wegner, R.D.4    Wieacker, P.5    Sauer, R.6
  • 40
    • 0036209939 scopus 로고    scopus 로고
    • Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting
    • Neubauer, S., Arutyunyan, R., Stumm, M., Dörk, T., Bendix, R., Bremer, M., Varon, R., Sauer, R. and Gebhart, E. (2002) Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. Radiat. Res., 157, 312-321.
    • (2002) Radiat. Res. , vol.157 , pp. 312-321
    • Neubauer, S.1    Arutyunyan, R.2    Stumm, M.3    Dörk, T.4    Bendix, R.5    Bremer, M.6    Varon, R.7    Sauer, R.8    Gebhart, E.9
  • 41
    • 33845243592 scopus 로고    scopus 로고
    • Individual differences in chromosomal aberrations after in vitro irradiation of cells from healthy individuals, cancer and cancer susceptibility syndrome patients
    • Distel, L. V., Neubauer, S., Keller, U., Sprung, C. N., Sauer, R. and Grabenbauer, G. G. (2006) Individual differences in chromosomal aberrations after in vitro irradiation of cells from healthy individuals, cancer and cancer susceptibility syndrome patients. Radiother. Oncol., 81, 257-263.
    • (2006) Radiother. Oncol. , vol.81 , pp. 257-263
    • Distel, L.V.1    Neubauer, S.2    Keller, U.3    Sprung, C.N.4    Sauer, R.5    Grabenbauer, G.G.6
  • 42
    • 33646230024 scopus 로고    scopus 로고
    • Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay
    • Bürger, S., Schindler, D., Fehn, M., Mühl, B., Mahrhofer, H., Flentje, M., Hoehn, H., Seemanová, E. and Djuzenova, C. S. (2006) Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay. Environ. Mol. Mutagen., 47, 260-270.
    • (2006) Environ. Mol. Mutagen. , vol.47 , pp. 260-270
    • Bürger, S.1    Schindler, D.2    Fehn, M.3    Mühl, B.4    Mahrhofer, H.5    Flentje, M.6    Hoehn, H.7    Seemanová, E.8    Djuzenova, C.S.9
  • 43
    • 0034282753 scopus 로고    scopus 로고
    • Radiosensitivity in Nijmegen breakage syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects
    • Girard, P. M., Foray, N., Stumm, M. et al. (2000) Radiosensitivity in Nijmegen breakage syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects. Cancer Res., 60, 4881-4888.
    • (2000) Cancer Res. , vol.60 , pp. 4881-4888
    • Girard, P.M.1    Foray, N.2    Stumm, M.3
  • 44
    • 0037182814 scopus 로고    scopus 로고
    • A modified neutral comet assay: Elimination of lysis at high temperature and validation of the assay with anti-single-stranded DNA antibody
    • Wojewódzka, M., Buraczewska, I. and Kruszewski, M. (2002) A modified neutral comet assay: elimination of lysis at high temperature and validation of the assay with anti-single-stranded DNA antibody. Mutat. Res., 518, 9-20.
    • (2002) Mutat. Res. , vol.518 , pp. 9-20
    • Wojewódzka, M.1    Buraczewska, I.2    Kruszewski, M.3
  • 46
    • 77951977394 scopus 로고    scopus 로고
    • Radiation-induced DNA repair foci: Spatio-temporal aspects of formation, application for assessment of radiosensitivity and biological dosimetry
    • Belyaev, I. Y. (2010) Radiation-induced DNA repair foci: spatio-temporal aspects of formation, application for assessment of radiosensitivity and biological dosimetry. Mutat. Res., 704, 132-141.
    • (2010) Mutat. Res. , vol.704 , pp. 132-141
    • Belyaev, I.Y.1
  • 47
    • 70349472553 scopus 로고    scopus 로고
    • Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA double-strand break processing and repair
    • Williams, R. S., Dodson, G. E., Limbo, O. et al. (2009) Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA double-strand break processing and repair. Cell, 139, 87-99.
    • (2009) Cell , vol.139 , pp. 87-99
    • Williams, R.S.1    Dodson, G.E.2    Limbo, O.3
  • 48
    • 38349052915 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome mutations and risk of breast cancer
    • Bogdanova, N., Feshchenko, S., Schürmann, P. et al. (2008) Nijmegen breakage syndrome mutations and risk of breast cancer. Int. J. Cancer, 122, 802-806.
    • (2008) Int. J. Cancer , vol.122 , pp. 802-806
    • Bogdanova, N.1    Feshchenko, S.2    Schürmann, P.3
  • 49
    • 10744226677 scopus 로고    scopus 로고
    • 657del5 mutation in the gene for Nijmegen breakage syndrome NBS1. in a cohort of Russian children with lymphoid tissue malignancies and controls
    • Resnick, I. B., Kondratenko, I., Pashanov, E. et al. (2003) 657del5 mutation in the gene for Nijmegen breakage syndrome NBS1. in a cohort of Russian children with lymphoid tissue malignancies and controls. Am. J. Med. Genet. A., 120, 174-179.
    • (2003) Am. J. Med. Genet. A. , vol.120 , pp. 174-179
    • Resnick, I.B.1    Kondratenko, I.2    Pashanov, E.3
  • 50
    • 31844434470 scopus 로고    scopus 로고
    • Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies
    • Chrzanowska, K. H., Piekutowska-Abramczuk, D., Popowska, E. et al. (2006) Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. Int. J. Cancer, 118, 1269-1274.
    • (2006) Int. J. Cancer , vol.118 , pp. 1269-1274
    • Chrzanowska, K.H.1    Piekutowska-Abramczuk, D.2    Popowska, E.3
  • 51
    • 33751581029 scopus 로고    scopus 로고
    • Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation
    • Steffen, J., Maneva, G., Popławska, L., Varon, R., Mioduszewska, O. and Sperling, K. (2006) Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation. Int. J. Cancer, 119, 2970-2973.
    • (2006) Int. J. Cancer , vol.119 , pp. 2970-2973
    • Steffen, J.1    Maneva, G.2    Popławska, L.3    Varon, R.4    Mioduszewska, O.5    Sperling, K.6
  • 52
    • 0038505600 scopus 로고    scopus 로고
    • Germline 657del5 mutation in the NBS1 gene in breast cancer patients
    • Górski, B., Dȩbniak, T., Masojć, B. et al. (2003) Germline 657del5 mutation in the NBS1 gene in breast cancer patients. Int. J. Cancer, 106, 379-381.
    • (2003) Int. J. Cancer , vol.106 , pp. 379-381
    • Górski, B.1    Dȩbniak, T.2    Masojć, B.3
  • 53
    • 20044366887 scopus 로고    scopus 로고
    • NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia
    • Buslov, K. G., Iyevleva, A. G., Chekmariova, E. V. et al. (2005) NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int. J. Cancer, 114, 585-589.
    • (2005) Int. J. Cancer , vol.114 , pp. 585-589
    • Buslov, K.G.1    Iyevleva, A.G.2    Chekmariova, E.V.3
  • 55
    • 10744233070 scopus 로고    scopus 로고
    • NBS1 is a prostate cancer susceptibility gene
    • Cybulski, C., Górski, B., Dȩbniak, T. et al. (2004) NBS1 is a prostate cancer susceptibility gene. Cancer Res., 64, 1215-1219.
    • (2004) Cancer Res. , vol.64 , pp. 1215-1219
    • Cybulski, C.1    Górski, B.2    Dȩbniak, T.3
  • 56
    • 0034085362 scopus 로고    scopus 로고
    • No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence
    • Stanulla, M., Stümm, M., Dieckvoss, B. O., Seidemann, K., Schemmel, V., Brechlin, A. M., Schrappe, M., Welte, K. and Reiter, A. (2000) No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence. Br. J. Haematol., 109, 117-120.
    • (2000) Br. J. Haematol. , vol.109 , pp. 117-120
    • Stanulla, M.1    Stümm, M.2    Dieckvoss, B.O.3    Seidemann, K.4    Schemmel, V.5    Brechlin, A.M.6    Schrappe, M.7    Welte, K.8    Reiter, A.9
  • 57
    • 0033902941 scopus 로고    scopus 로고
    • The common deletion 657del5 in the nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population
    • Rischewski, J., von Bismarck, P., Kabisch, H., Janka-Schaub, G., Obser, T. and Schneppenheim, R. (2000) The common deletion 657del5 in the nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population. Leukemia, 14, 1528-1529.
    • (2000) Leukemia , vol.14 , pp. 1528-1529
    • Rischewski, J.1    Von Bismarck, P.2    Kabisch, H.3    Janka-Schaub, G.4    Obser, T.5    Schneppenheim, R.6
  • 59
    • 0035328489 scopus 로고    scopus 로고
    • Mutations in the Nijmegen breakage syndrome gene (NBS1). in childhood acute lymphoblastic leukemia
    • Taylor, G. M., O'Brien, H. P., Greaves, M. V., Ravetto, P. F. and Eden, O. B. (2003) Correspondence re: R. Varon et al., Mutations in the Nijmegen breakage syndrome gene (NBS1). in childhood acute lymphoblastic leukemia. Cancer Res., 61: 3570-3572
    • (2003) Cancer Res. , vol.61 , pp. 3570-3572
    • Taylor, G.M.1    O'brien, H.P.2    Greaves, M.V.3    Ravetto, P.F.4    Eden, O.B.5    Varon, R.6
  • 60
    • 77952844455 scopus 로고    scopus 로고
    • 2001. Cancer Res., 63, 6563-6564.
    • (2001) Cancer Res. , vol.63 , pp. 6563-6564
  • 61
    • 3042818662 scopus 로고    scopus 로고
    • Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland
    • Steffen, J., Varon, R., Mosor, M. et al. (2004) Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int. J. Cancer, 11, 67-71.
    • (2004) Int. J. Cancer , vol.11 , pp. 67-71
    • Steffen, J.1    Varon, R.2    Mosor, M.3
  • 63
    • 34547816215 scopus 로고    scopus 로고
    • Germline NBS1 mutations in families with aggregation of breast and/or ovarian cancer from north-east Poland
    • Kanka, C., Brożek, I., Skalska, B., Siemia̧tkowska, A. and Limon, J. (2007) Germline NBS1 mutations in families with aggregation of breast and/or ovarian cancer from north-east Poland. Anticancer Res., 27, 3015-3018.
    • (2007) Anticancer Res. , vol.27 , pp. 3015-3018
    • Kanka, C.1    Brozek, I.2    Skalska, B.3    Siemia̧tkowska, A.4    Limon, J.5
  • 64
    • 0035328489 scopus 로고    scopus 로고
    • Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL)
    • Varon, R., Reis, A., Henze, G., von Einsiedel, H. G., Sperling, K. and Seeger, K. (2001) Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res., 61, 3570-3572.
    • (2001) Cancer Res. , vol.61 , pp. 3570-3572
    • Varon, R.1    Reis, A.2    Henze, G.3    Von Einsiedel, H.G.4    Sperling, K.5    Seeger, K.6
  • 65
    • 34748906012 scopus 로고    scopus 로고
    • Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene
    • Ziółkowska, I., Mosor, M., Wierzbicka, M., Rydzanicz, M., Pernak-Schwarz, M. and Nowak, J. (2007) Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene. Cancer Sci., 98, 1701-1705.
    • (2007) Cancer Sci. , vol.98 , pp. 1701-1705
    • Ziółkowska, I.1    Mosor, M.2    Wierzbicka, M.3    Rydzanicz, M.4    Pernak-Schwarz, M.5    Nowak, J.6
  • 66
    • 40449131773 scopus 로고    scopus 로고
    • Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours
    • Nowak, J., Mosor, M., Ziółkowska, I. et al. (2008) Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours. Eur. J. Cancer, 44, 627-630.
    • (2008) Eur. J. Cancer , vol.44 , pp. 627-630
    • Nowak, J.1    Mosor, M.2    Ziółkowska, I.3
  • 68
  • 69
    • 75049083168 scopus 로고    scopus 로고
    • The frequency of NBN molecular variants in pediatric astrocytic tumors
    • Piekutowska-Abramczuk, D., Ciara, E., Popowska, E. et al. (2010) The frequency of NBN molecular variants in pediatric astrocytic tumors. J. Neurooncol., 96, 161-168.
    • (2010) J. Neurooncol. , vol.96 , pp. 161-168
    • Piekutowska-Abramczuk, D.1    Ciara, E.2    Popowska, E.3
  • 70
    • 33744718463 scopus 로고    scopus 로고
    • Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer
    • Hebbring, S. J., Fredriksson, H., White, K. A. et al. (2006) Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer. Cancer Epidemiol. Biomarkers Prev., 15, 935-938.
    • (2006) Cancer Epidemiol. Biomarkers Prev. , vol.15 , pp. 935-938
    • Hebbring, S.J.1    Fredriksson, H.2    White, K.A.3
  • 71
    • 35848949304 scopus 로고    scopus 로고
    • DNA damage response as an anti-cancer barrier: Damage threshold and the concept of 'conditional haploinsufficiency'
    • Bartek, J., Lukas, J. and Bartkova, J. (2007) DNA damage response as an anti-cancer barrier: damage threshold and the concept of 'conditional haploinsufficiency'. Cell Cycle, 6, 2344-2347.
    • (2007) Cell Cycle , vol.6 , pp. 2344-2347
    • Bartek, J.1    Lukas, J.2    Bartkova, J.3
  • 72
    • 36949021811 scopus 로고    scopus 로고
    • The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome
    • Demuth, I. and Digweed, M. (2007) The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome. Oncogene, 26, 7792-7798.
    • (2007) Oncogene , vol.26 , pp. 7792-7798
    • Demuth, I.1    Digweed, M.2
  • 73
    • 2542432915 scopus 로고    scopus 로고
    • Haploinsufficiency for tumour suppressor genes: When you don't need to go all the way
    • Santarosa, M. and Ashworth, A. (2004) Haploinsufficiency for tumour suppressor genes: when you don't need to go all the way. Biochim. Biophys. Acta, 1654, 105-122.
    • (2004) Biochim. Biophys. Acta , vol.1654 , pp. 105-122
    • Santarosa, M.1    Ashworth, A.2
  • 74
    • 33745861668 scopus 로고    scopus 로고
    • Tumor development: Haploinsufficiency and local network assembly
    • Smilenov, L. B. (2006) Tumor development: haploinsufficiency and local network assembly. Cancer Lett., 240, 17-28.
    • (2006) Cancer Lett. , vol.240 , pp. 17-28
    • Smilenov, L.B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.