메뉴 건너뛰기




Volumn 63, Issue 7, 2011, Pages 503-512

Cancer predisposing mutations in BRCT domains

Author keywords

BRCT domains; BRCT mutations; cancer susceptibility; familial breast and ovarian cancer syndrome; Nijmegen breakage syndrome; primary microcephaly

Indexed keywords

ALANINE; ANTIINFECTIVE AGENT; ARGININE; ATM PROTEIN; ATR PROTEIN; BREAST CANCER 1; CYSTEINE; DNA BINDING PROTEIN; GLUTAMINE; GLYCINE; HISTONE DEACETYLASE 1; HISTONE DEACETYLASE 2; ISOLEUCINE; LYSINE; METHIONINE; MICROCEPHALIN1; NIBRIN; PHENYLALANINE; PHOSPHATIDYLETHANOLAMINE; PHOSPHOPEPTIDE; PHOSPHOPROTEIN; PROTEIN; SERINE; TRYPTOPHAN; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG; VALINE; XERODERMA PIGMENTOSUM GROUP C PROTEIN;

EID: 79959583326     PISSN: 15216543     EISSN: 15216551     Source Type: Journal    
DOI: 10.1002/iub.472     Document Type: Review
Times cited : (17)

References (75)
  • 1
    • 3943107573 scopus 로고    scopus 로고
    • Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints
    • DOI 10.1146/annurev.biochem.73.011303.073723
    • Sancar, A., Lindsey-Boltz, L. A., Unsal-Kacmaz, K., and, Linn, S., (2004) Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints. Annu. Rev. Biochem. 73, 39-85. (Pubitemid 39050363)
    • (2004) Annual Review of Biochemistry , vol.73 , pp. 39-85
    • Sancar, A.1    Lindsey-Boltz, L.A.2    Unsal-Kacmaz, K.3    Linn, S.4
  • 2
    • 65849336044 scopus 로고    scopus 로고
    • At loose ends: Resecting a double-strand break
    • Bernstein, K. A., and, Rothstein, R., (2009) At loose ends: resecting a double-strand break. Cell 137, 807-810.
    • (2009) Cell , vol.137 , pp. 807-810
    • Bernstein, K.A.1    Rothstein, R.2
  • 3
    • 65349178204 scopus 로고    scopus 로고
    • Marks to stop the clock: Histone modifications and checkpoint regulation in the DNA damage response
    • Humpal, S. E., Robinson, D. A., and, Krebs, J. E., (2009) Marks to stop the clock: histone modifications and checkpoint regulation in the DNA damage response. Biochem. Cell Biol. 87, 243-253.
    • (2009) Biochem. Cell Biol. , vol.87 , pp. 243-253
    • Humpal, S.E.1    Robinson, D.A.2    Krebs, J.E.3
  • 5
    • 33644879468 scopus 로고    scopus 로고
    • Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain
    • DOI 10.1007/s10689-005-2579-z
    • Glover, J. N., (2006) Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain. Fam. Cancer 5, 89-93. (Pubitemid 43384323)
    • (2006) Familial Cancer , vol.5 , Issue.1 , pp. 89-93
    • Glover, J.N.M.1
  • 6
    • 0029886749 scopus 로고    scopus 로고
    • Protein sequence comparison at genome scale
    • DOI 10.1016/S0076-6879(96)66020-0
    • Koonin, E. V., Tatusov, R. L., and, Rudd, K. E., (1996) Protein sequence comparison at genome scale. Methods Enzymol. 266, 295-322. (Pubitemid 26165874)
    • (1996) Methods in Enzymology , vol.266 , pp. 295-322
    • Koonin, E.V.1    Tatusov, R.L.2    Rudd, K.E.3
  • 7
    • 0030187780 scopus 로고    scopus 로고
    • BRCA1 protein products. Functional motifs
    • Koonin, E. V., Altschul, S. F., and, Bork, P., (1996) BRCA1 protein products. Functional motifs. Nat. Genet. 13, 266-268.
    • (1996) Nat. Genet. , vol.13 , pp. 266-268
    • Koonin, E.V.1    Altschul, S.F.2    Bork, P.3
  • 8
    • 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
  • 9
    • 0031031787 scopus 로고    scopus 로고
    • From BRCA1 to RAP1: A widespread BRCT module closely associated with DNA repair
    • DOI 10.1016/S0014-5793(96)01312-9, PII S0014579396013129
    • Callebaut, I., and, Mornon, J. P., (1997) From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair. FEBS Lett. 400, 25-30. (Pubitemid 27046815)
    • (1997) FEBS Letters , vol.400 , Issue.1 , pp. 25-30
    • Callebaut, I.1    Mornon, J.-P.2
  • 10
    • 6344287454 scopus 로고    scopus 로고
    • Interactions between BRCT repeats and phosphoproteins: Tangled up in two
    • DOI 10.1016/j.tibs.2004.09.010, PII S096800040400235X
    • Glover, J. N., Williams, R. S., and, Lee, M. S., (2004) Interactions between BRCT repeats and phosphoproteins: tangled up in two. Trends Biochem. Sci. 29, 579-585. (Pubitemid 39389077)
    • (2004) Trends in Biochemical Sciences , vol.29 , Issue.11 , pp. 579-585
    • Glover, J.N.M.1    Williams, R.S.2    Lee, M.S.3
  • 11
    • 45749123993 scopus 로고    scopus 로고
    • NBS1 heterozygosity and cancer risk
    • DOI 10.2174/138920208784533610
    • di Masi, A., and, Antoccia, A., (2008) NBS1 Heterozygosity and Cancer Risk. Curr. Genomics 9, 275-281. (Pubitemid 351864253)
    • (2008) Current Genomics , vol.9 , Issue.4 , pp. 275-281
    • Di Masi, A.1    Antoccia, A.2
  • 12
    • 77953512068 scopus 로고    scopus 로고
    • Targeting the DNA double strand breaks repair for cancer therapy
    • Gullotta, F., De Marinis, E., Ascenzi, P., and, di Masi, A., (2010) Targeting the DNA double strand breaks repair for cancer therapy. Curr. Med. Chem. 17, 2017-2048.
    • (2010) Curr. Med. Chem. , vol.17 , pp. 2017-2048
    • Gullotta, F.1    De Marinis, E.2    Ascenzi, P.3    Di Masi, A.4
  • 17
    • 2542490186 scopus 로고    scopus 로고
    • Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1
    • DOI 10.1038/nsmb776
    • Williams, R. S., Lee, M. S., Hau, D. D., and, Glover, J. N., (2004) Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. Nat. Struct. Mol. Biol. 11, 519-525. (Pubitemid 38691918)
    • (2004) Nature Structural and Molecular Biology , vol.11 , Issue.6 , pp. 519-525
    • Williams, R.S.1    Lee, M.S.2    Hau, D.D.3    Glover, J.N.M.4
  • 19
    • 0034809456 scopus 로고    scopus 로고
    • Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1
    • DOI 10.1038/nsb1001-838
    • Williams, R. S., Green, R., and, Glover, J. N., (2001) Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nat. Struct. Biol. 8, 838-842. (Pubitemid 32923600)
    • (2001) Nature Structural Biology , vol.8 , Issue.10 , pp. 838-842
    • Williams, R.S.1    Green, R.2    Glover, J.N.M.3
  • 21
    • 33646106590 scopus 로고    scopus 로고
    • GammaH2AX and MDC1: Anchoring the DNA-damage-response machinery to broken chromosomes
    • Stucki, M., and, Jackson, S. P., (2006) gammaH2AX and MDC1: anchoring the DNA-damage-response machinery to broken chromosomes. DNA Repair (Amst) 5, 534-543.
    • (2006) DNA Repair (Amst) , vol.5 , pp. 534-543
    • Stucki, M.1    Jackson, S.P.2
  • 22
    • 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
  • 23
    • 0037462647 scopus 로고    scopus 로고
    • Structural consequences of a cancer-causing BRCA1-BRCT missense mutation
    • DOI 10.1074/jbc.M210019200
    • Williams, R. S., and, Glover, J. N., (2003) Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. J. Biol. Chem. 278, 2630-2635. (Pubitemid 36801342)
    • (2003) Journal of Biological Chemistry , vol.278 , Issue.4 , pp. 2630-2635
    • Williams, R.S.1    Glover, J.N.M.2
  • 24
    • 2342484423 scopus 로고    scopus 로고
    • Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: Implications for signaling
    • DOI 10.1016/S1097-2765(04)00238-2, PII S1097276504002382
    • Shiozaki, E. N., Gu, L., Yan, N., and, Shi, Y., (2004) Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Mol. Cell 14, 405-412. (Pubitemid 38591411)
    • (2004) Molecular Cell , vol.14 , Issue.3 , pp. 405-412
    • Shiozaki, E.N.1    Gu, L.2    Yan, N.3    Shi, Y.4
  • 26
    • 0035918591 scopus 로고    scopus 로고
    • BRCT domain interactions in the heterodimeric DNA repair protein XRCC1-DNA ligase III
    • DOI 10.1021/bi002701e
    • Dulic, A., Bates, P. A., Zhang, X., Martin, S. R., Freemont, P. S., Lindahl, T., and, Barnes, D. E., (2001) BRCT domain interactions in the heterodimeric DNA repair protein XRCC1-DNA ligase III. Biochemistry 40, 5906-5913. (Pubitemid 32466292)
    • (2001) Biochemistry , vol.40 , Issue.20 , pp. 5906-5913
    • Dulic, A.1    Bates, P.A.2    Zhang, X.3    Martin, S.R.4    Freemont, P.S.5    Lindahl, T.6    Barnes, D.E.7
  • 27
    • 67650458507 scopus 로고    scopus 로고
    • Microcephalin regulates BRCA2 and Rad51-associated DNA double-strand break repair
    • Wu, X., Mondal, G., Wang, X., Wu, J., Yang, L., Pankratz, V. S., Rowley, M., and, Couch, F. J., (2009) Microcephalin regulates BRCA2 and Rad51-associated DNA double-strand break repair. Cancer Res. 69, 5531-5536.
    • (2009) Cancer Res. , vol.69 , pp. 5531-5536
    • Wu, X.1    Mondal, G.2    Wang, X.3    Wu, J.4    Yang, L.5    Pankratz, V.S.6    Rowley, M.7    Couch, F.J.8
  • 28
    • 68349095151 scopus 로고    scopus 로고
    • Human DNA damage response and repair deficiency syndromes: Linking genomic instability and cell cycle checkpoint proficiency
    • Kerzendorfer, C., and, O'Driscoll, M., (2009) Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency. DNA Repair (Amst) 8, 1139-1152.
    • (2009) DNA Repair (Amst) , vol.8 , pp. 1139-1152
    • Kerzendorfer, C.1    O'Driscoll, M.2
  • 29
    • 29244437908 scopus 로고    scopus 로고
    • The role of double-strand break repair - Insights from human genetics
    • DOI 10.1038/nrg1746
    • O'Driscoll, M., and, Jeggo, P. A., (2006) The role of double-strand break repair-insights from human genetics. Nat. Rev. Genet. 7, 45-54. (Pubitemid 41828947)
    • (2006) Nature Reviews Genetics , vol.7 , Issue.1 , pp. 45-54
    • O'Driscoll, M.1    Jeggo, P.A.2
  • 30
    • 39749151090 scopus 로고    scopus 로고
    • DNA damage and repair: From molecular mechanisms to health implications
    • DOI 10.1089/ars.2007.1830
    • Altieri, F., Grillo, C., Maceroni, M., and, Chichiarelli, S., (2008) DNA damage and repair: from molecular mechanisms to health implications. Antioxid. Redox. Signal. 10, 891-937. (Pubitemid 351301368)
    • (2008) Antioxidants and Redox Signaling , vol.10 , Issue.5 , pp. 891-937
    • Altieri, F.1    Grillo, C.2    Maceroni, M.3    Chichiarelli, S.4
  • 31
    • 45849118763 scopus 로고    scopus 로고
    • Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients
    • DOI 10.1080/02841860801885969, PII 789791325
    • Chistiakov, D. A., Voronova, N. V., and, Chistiakov, P. A., (2008) Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients. Acta Oncol. 47, 809-824. (Pubitemid 351882749)
    • (2008) Acta Oncologica , vol.47 , Issue.5 , pp. 809-824
    • Chistiakov, D.A.1    Voronova, N.V.2    Chistiakov, P.A.3
  • 32
    • 33847271255 scopus 로고    scopus 로고
    • Links between DNA double strand break repair and breast cancer: Accumulating evidence from both familial and nonfamilial cases
    • Ralhan, R., Kaur, J., Kreienberg, R., and, Wiesmuller, L., (2007) Links between DNA double strand break repair and breast cancer: accumulating evidence from both familial and nonfamilial cases. Cancer Lett. 248, 1-17.
    • (2007) Cancer Lett. , vol.248 , pp. 1-17
    • Ralhan, R.1    Kaur, J.2    Kreienberg, R.3    Wiesmuller, L.4
  • 33
    • 68249108128 scopus 로고    scopus 로고
    • Targeting the DNA damage response for cancer therapy
    • Powell, S. N., and, Bindra, R. S., (2009) Targeting the DNA damage response for cancer therapy. DNA Repair (Amst) 8, 1153-1165.
    • (2009) DNA Repair (Amst) , vol.8 , pp. 1153-1165
    • Powell, S.N.1    Bindra, R.S.2
  • 35
    • 17644399484 scopus 로고    scopus 로고
    • Autosomal recessive primary microcephaly (MCPH): A review of clinical, molecular, and evolutionary findings
    • DOI 10.1086/429930
    • Woods, C. G., Bond, J., and, Enard, W., (2005) Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am. J. Hum. Genet. 76, 717-728. (Pubitemid 40563095)
    • (2005) American Journal of Human Genetics , vol.76 , Issue.5 , pp. 717-728
    • Woods, C.G.1    Bond, J.2    Enard, W.3
  • 36
    • 30944450821 scopus 로고    scopus 로고
    • Phenotypic evaluation of the basal-like subtype of invasive breast carcinoma
    • DOI 10.1038/modpathol.3800528, PII 3800528
    • Livasy, C. A., Karaca, G., Nanda, R., Tretiakova, M. S., Olopade, O. I., Moore, D. T., and, Perou, C. M., (2006) Phenotypic evaluation of the basal-like subtype of invasive breast carcinoma. Mod. Pathol. 19, 264-271. (Pubitemid 43117611)
    • (2006) Modern Pathology , vol.19 , Issue.2 , pp. 264-271
    • Livasy, C.A.1    Karaca, G.2    Nanda, R.3    Tretiakova, M.S.4    Olopade, O.I.5    Moore, D.T.6    Perou, C.M.7
  • 38
    • 78649450619 scopus 로고    scopus 로고
    • Assembly and function of DNA double-strand break repair foci in mammalian cells
    • Bekker-Jensen, S., and, Mailand, N., (2010) Assembly and function of DNA double-strand break repair foci in mammalian cells. DNA Repair (Amst) 9, 1219-1228.
    • (2010) DNA Repair (Amst) , vol.9 , pp. 1219-1228
    • Bekker-Jensen, S.1    Mailand, N.2
  • 39
    • 77954712322 scopus 로고    scopus 로고
    • BRCA1 16 years later: Risk-associated BRCA1 mutations and their functional implications
    • Linger, R. J., and, Kruk, P. A., (2010) BRCA1 16 years later: risk-associated BRCA1 mutations and their functional implications. FEBS J. 277, 3086-3096.
    • (2010) FEBS J. , vol.277 , pp. 3086-3096
    • Linger, R.J.1    Kruk, P.A.2
  • 40
    • 77958498222 scopus 로고    scopus 로고
    • The ATM-Chk2 and ATR-Chk1 pathways in DNA damage signaling and cancer
    • Smith, J., Tho, L. M., Xu, N., and, Gillespie, D. A., (2010) The ATM-Chk2 and ATR-Chk1 pathways in DNA damage signaling and cancer. Adv. Cancer Res. 108, 73-112.
    • (2010) Adv. Cancer Res. , vol.108 , pp. 73-112
    • Smith, J.1    Tho, L.M.2    Xu, N.3    Gillespie, D.A.4
  • 42
    • 77956194960 scopus 로고    scopus 로고
    • Methylation of the tumor suppressor protein, BRCA1, influences its transcriptional cofactor function
    • Guendel, I., Carpio, L., Pedati, C., Schwartz, A., Teal, C., Kashanchi, F., and, Kehn-Hall, K., (2010) Methylation of the tumor suppressor protein, BRCA1, influences its transcriptional cofactor function. PLoS. One. 5, e11379 -.
    • (2010) PLoS. One. , vol.5
    • Guendel, I.1    Carpio, L.2    Pedati, C.3    Schwartz, A.4    Teal, C.5    Kashanchi, F.6    Kehn-Hall, K.7
  • 43
    • 33751278712 scopus 로고    scopus 로고
    • Cellular functions of the BRCA tumour-suppressor proteins
    • DOI 10.1042/BST0340633
    • Boulton, S. J., (2006) Cellular functions of the BRCA tumour-suppressor proteins. Biochem. Soc. Trans. 34, 633-645. (Pubitemid 44796392)
    • (2006) Biochemical Society Transactions , vol.34 , Issue.5 , pp. 633-645
    • Boulton, S.J.1
  • 44
    • 33646808638 scopus 로고    scopus 로고
    • A conserved pathway to activate BRCA1-dependent ubiquitylation at DNA damage sites
    • Polanowska, J., Martin, J. S., Garcia-Muse, T., Petalcorin, M. I., and, Boulton, S. J., (2006) A conserved pathway to activate BRCA1-dependent ubiquitylation at DNA damage sites. EMBO J. 25, 2178-2188.
    • (2006) EMBO J. , vol.25 , pp. 2178-2188
    • Polanowska, J.1    Martin, J.S.2    Garcia-Muse, T.3    Petalcorin, M.I.4    Boulton, S.J.5
  • 46
    • 3242892589 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome: Clinical manifestation of defective response to DNA double-strand breaks
    • DOI 10.1016/j.dnarep.2004.03.004, PII S1568786404000631
    • 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. (Pubitemid 38997964)
    • (2004) DNA Repair , vol.3 , Issue.8-9 , pp. 1207-1217
    • Digweed, M.1    Sperling, K.2
  • 47
    • 77953518077 scopus 로고    scopus 로고
    • Nijmegen Breakage Syndrome: A DNA double strand breaks repair defective disorder
    • di Masi, A., Beradinelli, F., and, Antoccia, A., (2008) Nijmegen Breakage Syndrome: a DNA double strand breaks repair defective disorder; In: Genetic Inheritance Patterns. 21-73.
    • (2008) Genetic Inheritance Patterns , pp. 21-73
    • Di Masi, A.1    Beradinelli, F.2    Antoccia, A.3
  • 48
    • 33745600397 scopus 로고    scopus 로고
    • Detection of a tandem BRCT in Nbs1 and Xrs2 with functional implications in the DNA damage response
    • DOI 10.1093/bioinformatics/btl075
    • Becker, E., Meyer, V., Madaoui, H., and, Guerois, R., (2006) Detection of a tandem BRCT in Nbs1 and Xrs2 with functional implications in the DNA damage response. Bioinformatics. 22, 1289-1292. (Pubitemid 43985262)
    • (2006) Bioinformatics , vol.22 , Issue.11 , pp. 1289-1292
    • Becker, E.1    Meyer, V.2    Madaoui, H.3    Guerois, R.4
  • 49
    • 77955841725 scopus 로고    scopus 로고
    • The MRN complex in double-strand break repair and telomere maintenance
    • Lamarche, B. J., Orazio, N. I., and, Weitzman, M. D., (2010) The MRN complex in double-strand break repair and telomere maintenance. FEBS Lett. 584, 3682-3695.
    • (2010) FEBS Lett. , vol.584 , pp. 3682-3695
    • Lamarche, B.J.1    Orazio, N.I.2    Weitzman, M.D.3
  • 50
    • 33845653255 scopus 로고    scopus 로고
    • Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein
    • DOI 10.1093/carcin/bgl126
    • Kruger, L., Demuth, I., Neitzel, H., Varon, R., Sperling, K., Chrzanowska, K. H., Seemanova, E., and, Digweed, M., (2007) Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. Carcinogenesis 28, 107-111. (Pubitemid 44942632)
    • (2007) Carcinogenesis , vol.28 , Issue.1 , pp. 107-111
    • Kruger, L.1    Demuth, I.2    Neitzel, H.3    Varon, R.4    Sperling, K.5    Chrzanowska, K.H.6    Seemanova, E.7    Digweed, M.8
  • 51
    • 0035289717 scopus 로고    scopus 로고
    • Chromosomal stability and the DNA double-stranded break connection
    • DOI 10.1038/35056049
    • van Gent, D. C., Hoeijmakers, J. H., and, Kanaar, R., (2001) Chromosomal stability and the DNA double-stranded break connection. Nat. Rev. Genet. 2, 196-206. (Pubitemid 33674018)
    • (2001) Nature Reviews Genetics , vol.2 , Issue.3 , pp. 196-206
    • Van Gent, D.C.1    Hoeijmakers, J.H.J.2    Kanaar, R.3
  • 52
    • 0345307146 scopus 로고    scopus 로고
    • What's new in neurogenetics? Focus on 'primary microcephaly'
    • DOI 10.1016/j.ejpn.2003.09.002
    • Suri, M., (2003) What's new in neurogenetics? Focus on "primary microcephaly". Eur. J. Paediatr. Neurol. 7, 389-392. (Pubitemid 37441641)
    • (2003) European Journal of Paediatric Neurology , vol.7 , Issue.6 , pp. 389-392
    • Suri, M.1
  • 53
    • 33751256255 scopus 로고    scopus 로고
    • Microcephalin: A causal link between impaired damage response signalling and microcephaly
    • O'Driscoll, M., Jackson, A. P., and, Jeggo, P. A., (2006) Microcephalin: a causal link between impaired damage response signalling and microcephaly. Cell Cycle 5, 2339-2344. (Pubitemid 44785842)
    • (2006) Cell Cycle , vol.5 , Issue.20 , pp. 2339-2344
    • O'Driscoll, M.1    Jackson, A.P.2    Jeggo, P.A.3
  • 55
    • 84979192849 scopus 로고
    • The genetics and sub-classification of microcephaly
    • COWIE, V., (1960) The genetics and sub-classification of microcephaly. J. Ment. Defic. Res. 4, 42-47.
    • (1960) J. Ment. Defic. Res. , vol.4 , pp. 42-47
    • Cowie, V.1
  • 57
    • 0033361792 scopus 로고    scopus 로고
    • Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15 [4]
    • DOI 10.1086/302640
    • Jamieson, C. R., Govaerts, C., and, Abramowicz, M. J., (1999) Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am. J. Hum. Genet. 65, 1465-1469. (Pubitemid 30460401)
    • (1999) American Journal of Human Genetics , vol.65 , Issue.5 , pp. 1465-1469
    • Jamieson, C.R.1    Govaerts, C.2    Abramowicz, M.J.3
  • 65
    • 37848999008 scopus 로고    scopus 로고
    • Distinct BRCT domains in Mcph1/Brit1 mediate ionizing radiation-induced focus formation and centrosomal localization
    • Jeffers, L. J., Coull, B. J., Stack, S. J., and, Morrison, C. G., (2008) Distinct BRCT domains in Mcph1/Brit1 mediate ionizing radiation-induced focus formation and centrosomal localization. Oncogene 27, 139-144.
    • (2008) Oncogene , vol.27 , pp. 139-144
    • Jeffers, L.J.1    Coull, B.J.2    Stack, S.J.3    Morrison, C.G.4
  • 66
    • 33746847691 scopus 로고    scopus 로고
    • Microcephalin guards against small brains, genetic instability, and cancer
    • DOI 10.1016/j.ccr.2006.07.014, PII S1535610806002200
    • Bartek, J., (2006) Microcephalin guards against small brains, genetic instability, and cancer. Cancer Cell 10, 91-93. (Pubitemid 44175910)
    • (2006) Cancer Cell , vol.10 , Issue.2 , pp. 91-93
    • Bartek, J.1
  • 68
    • 77954277522 scopus 로고    scopus 로고
    • Multiple roles of BRIT1/MCPH1 in DNA damage response, DNA repair, and cancer suppression
    • Lin, S. Y., Liang, Y., and, Li, K., (2010) Multiple roles of BRIT1/MCPH1 in DNA damage response, DNA repair, and cancer suppression. Yonsei Med. J. 51, 295-301.
    • (2010) Yonsei Med. J. , vol.51 , pp. 295-301
    • Lin, S.Y.1    Liang, Y.2    Li, K.3
  • 69
    • 27244445051 scopus 로고    scopus 로고
    • BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly
    • DOI 10.1073/pnas.0507722102
    • Lin, S. Y., Rai, R., Li, K., Xu, Z. X., and, Elledge, S. J., (2005) BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. Proc. Natl. Acad. Sci. USA 102, 15105-15109. (Pubitemid 41513342)
    • (2005) Proceedings of the National Academy of Sciences of the United States of America , vol.102 , Issue.42 , pp. 15105-15109
    • Lin, S.-Y.1    Rai, R.2    Li, K.3    Xu, Z.-X.4    Elledge, S.J.5
  • 70
    • 57649223685 scopus 로고    scopus 로고
    • Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair
    • Wood, J. L., Liang, Y., Li, K., and, Chen, J., (2008) Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair. J. Biol. Chem. 283, 29586-29592.
    • (2008) J. Biol. Chem. , vol.283 , pp. 29586-29592
    • Wood, J.L.1    Liang, Y.2    Li, K.3    Chen, J.4
  • 75
    • 33751218297 scopus 로고    scopus 로고
    • BRIT1/MCPH1: A guardian of genome and an enemy of tumors
    • Chaplet, M., Rai, R., Jackson-Bernitsas, D., Li, K., and, Lin, S. Y., (2006) BRIT1/MCPH1: a guardian of genome and an enemy of tumors. Cell Cycle 5, 2579-2583. (Pubitemid 44785800)
    • (2006) Cell Cycle , vol.5 , Issue.22 , pp. 2579-2583
    • Chaplet, M.1    Rai, R.2    Jackson-Bernitsas, D.3    Li, K.4    Lin, S.-Y.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.