Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
Open accessAbstract
Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. Cells from NBS patients are hypersensitive to ionizing radiation with cytogenetic features indistinguishable from ataxia telangiectasia. We describe the positional cloning of a gene encoding a novel protein, nibrin. It contains two modules found in cell cycle checkpoint proteins, a forkhead-associated domain adjacent to a breast cancer carboxy-terminal domain. A truncating 5 bp deletion was identified in the majority of NBS patients, carrying a conserved marker haplotype. Five further truncating mutations were identified in patients with other distinct haplotypes. The domains found in nibrin and the NBS phenotype suggest that this disorder is caused by defective responses to DNA double-strand breaks.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Patients with congenital mutations in DNA repair proteins such as NBS1 and ATM have increased chromosomal fragility and increased incidence of tumor formation.
“This is evident in patients with congenital mutations in DNA repair proteins, such as NBS1 and ATM. Cells from these patients have increased chromosomal fragility, and the patients themselves have an increased incidence of tumor formation.10,16,17”
From Mdmx promotes genomic instability independent of p53 and Mdm2 (2015) · cites this paper as [16]
ATG7, DNA2, and NBN encode DNA damage repair proteins in the DNA damage response, including homology-directed repair and non-homologous end joining for double-strand breaks.
“ATG7 is an autophagy-related protein [136] which can modulate p53-dependent cell cycle pathways during prolonged stress [78] and plays a critical role in homology-directed repair (HDR) of DSBs [46]. Similarly, DNA2 encodes a HDR DNA repair protein for repair of DSBs [62] and NBN encodes a non-homologous end joining (NHEJ) DNA repair protein for repair of DSBs [158].”
From Early onset senescence and cognitive impairment in a murine model of repeated mTBI (2021) · cites this paper as [158]
Cites
Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669 · see citing works
Improved tools for biological sequence comparison.
Pearson, W. R., & Lipman, D. J. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.8.2444 · Cited by 11,227 · see citing works
Orita, M., Suzuki, Y., Sekiya, T., & Hayashi, K. (1989) · Genomics · doi:10.1016/0888-7543(89)90129-8 · Cited by 3,433 · see citing works
A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase
Savitsky, K., Bar-Shira, A., Gilad, S., Rotman, G., Ziv, Y., Vanagaite, L., Tagle, D. A., Smith, S., Uziel, T., Sfez, S., et al. (1995) · Science · doi:10.1126/science.7792600 · Cited by 2,785 · see citing works
Self-citationCarney, J. P., Maser, R. S., Olivares, H., Davis, E. M., Le Beau, M., Yates, J. R., Hays, L., Morgan, W. F., & Petrini, J. H. J. (1998) · Cell · doi:10.1016/s0092-8674(00)81175-7 · Cited by 1,226 · see citing works
A Gene Map of the Human Genome
Schuler, G. D., Boguski, M. S., Stewart, E. A., Stein, L. D., Gyapay, G., Rice, K. M., White, R. E., Rodriguez‐Tomé, P., Aggarwal, A., Bajorek, E. S., et al. (1996) · Science · doi:10.1126/science.274.5287.540 · Cited by 1,046 · see citing works
A workbench for multiple alignment construction and analysis
Schuler, G. D., Altschul, S. F., & Lipman, D. J. (1991) · Proteins Structure Function and Bioinformatics · doi:10.1002/prot.340090304 · Cited by 985 · see citing works
An STS-Based Map of the Human Genome
Hudson, T. J., Stein, L. D., Gerety, S. S., Ma, J., Castle, A. B., Silva, J., Slonim, D. K., Baptista, R., Kruglyak, L., Xu, S., et al. (1995) · Science · doi:10.1126/science.270.5244.1945 · Cited by 773 · see citing works
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., & Koonin, E. V. (1997) · The FASEB Journal · doi:10.1096/fasebj.11.1.9034168 · Cited by 746 · see citing works
ATAXIA-TELANGIECTASIA AND THE NIJMEGEN BREAKAGE SYNDROME: Related Disorders But Genes Apart
Shiloh, Y. (1997) · Annual Review of Genetics · doi:10.1146/annurev.genet.31.1.635 · Cited by 482 · see citing works
Cystic Fibrosis Heterozygote Resistance to Cholera Toxin in the Cystic Fibrosis Mouse Model
Gabriel, S. E., Brigman, K., Koller, B. H., Boucher, R. C., & Stutts, M. J. (1994) · Science · doi:10.1126/science.7524148 · Cited by 481 · see citing works
van der Burgt, I., Chrzańowska, K., Smeets, D. F. C. M., & Weemaes, C. (1996) · Journal of Medical Genetics · doi:10.1136/jmg.33.2.153 · Cited by 377 · see citing works
Self-citationAtaxia-telangiectasia and cellular responses to DNA damage.
Meyn, M. S. (1995) · PubMed · Cited by 374 · see citing works
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
Morral, N., Bertranpetit, J., Estivill, X., Nunes, V., Casals, T., Giménez, J., Reis, A., Varon-Mateeva, R., Maçek, M., Kalaydjieva, L. V., et al. (1994) · Nature Genetics · doi:10.1038/ng0694-169 · Cited by 358 · see citing works
Self-citationA NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME
Weemaes, C. M. R., Hustinx, T. W. J., Scheres, J. M. J. C., Munster, P. J. J. V., Bakkeren, J. A. J. M., & Taalman, R. D. F. M. (1981) · Acta Paediatrica · doi:10.1111/j.1651-2227.1981.tb05740.x · Cited by 353 · see citing works
Self-citationHofmann, K. (1995) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(00)89072-6 · Cited by 349 · see citing works
Dolganov, G. M., Maser, R. S., Novikov, A., Tosto, L., Chong, S., Bressan, D. A., & Petrini, J. H. J. (1996) · Molecular and Cellular Biology · doi:10.1128/mcb.16.9.4832 · Cited by 224 · see citing works
Jaspers, N. G. J., Gatti, R. A., Baan, C. C., Linssen, P. C. M., & Bootsma, D. (2008) · Cytogenetics and Cell Genetics · doi:10.1159/000132673 · Cited by 178 · see citing works
Self-citationChromosome analysis by non-isotopic in situ hybridization.
Lichter, P., & Cremer, T. J. (1992) · Open access LMU (Ludwid Maxmilian's Universitat Munchen) · doi:10.5282/ubm/epub.9402 · Cited by 169 · see citing works
Isolation and Characterization of the Human MRE11 Homologue
Petrini, J. H. J., Walsh, M. E., DiMare, C., Chen, X., Korenberg, J. R., & Weaver, D. T. (1995) · Genomics · doi:10.1006/geno.1995.1217 · Cited by 132 · see citing works
Taalman, R. D. F. M., Jaspers, N. G. J., Scheres, J. M. J. C., de Wit, J., & Hustinx, T. W. J. (1983) · Mutation Research/DNA Repair Reports · doi:10.1016/0167-8817(83)90021-4 · Cited by 119 · see citing works
Jongmans, W., Vuillaume, M., Chrzańowska, K., Smeets, D., Sperling, K., & Hall, J. A. (1997) · Molecular and Cellular Biology · doi:10.1128/mcb.17.9.5016 · Cited by 117 · see citing works
Self-citationPlatzer, M., Rotman, G., Bauer, D., Uziel, T., Savitsky, K., Bar‐Shira, A., Gilad, S., Shiloh, Y., & Rosenthal, A. (1997) · Genome Research · doi:10.1101/gr.7.6.592 · Cited by 115 · see citing works
Self-citationChrzańowska, K., Kleijer, W. J., Krajewska‐Walasek, M., Białecka, M., Gutkowska, A., Goryluk‐Kozakiewicz, B., Michałkiewicz, J., Stachowski, J., Gregorek, H., Łysoń-Wojciechowska, G., et al. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320570321 · Cited by 112 · see citing works
Saar, K., Chrzańowska, K., Stümm, M., Jung, M., Nürnberg, G., Wienker, T. F., Seemanová, E., Wegner, R. ‐., Reis, A., & Sperling, K. (1997) · Europe PMC (PubMed Central) · Cited by 106 · see citing works
Self-citationFriedman, K. J., Heim, R. A., Knowles, M. R., & Silverman, L. M. (1997) · Human Mutation · doi:10.1002/(sici)1098-1004(1997)10:2 · Cited by 89 · see citing works
Beckmann, G., Hanke, J., Peer Bork, B., & Jg, R. (1998) · Journal of Molecular Biology · doi:10.1006/jmbi.1997.1510 · Cited by 81 · see citing works
Self-citationCell-Cycle Regulation of Mammalian DNA Double-Strand-Break Repair
Hendrickson, E. A. (1997) · The American Journal of Human Genetics · doi:10.1086/514895 · Cited by 80 · see citing works
Identification of Two Domains of the p70 Ku Protein Mediating Dimerization with p80 and DNA Binding
Wang, J., Dong, X., Myung, K., et al. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.2.842 · Cited by 77 · see citing works
Jaspers, N. G. J., Taalman, R. D. F. M., & Baan, C. C. (1988) · PubMed · Cited by 75 · see citing works
Wegner, R. ‐., Metzger, M., Hanefeld, F. A., Jaspers, N. G. J., Baan, C. C., Magdorf, K., Kunze, J., & Sperling, K. (1988) · Clinical Genetics · doi:10.1111/j.1399-0004.1988.tb04260.x · Cited by 70 · see citing works
Self-citationMatsuura, K., Balmukhanov, T. S., Tauchi, H., Weemaes, C. M. R., Smeets, D. F. C. M., Chrzańowska, K., Endou, S., Matsuura, S., & Komatsu, K. (1998) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1997.7924 · Cited by 51 · see citing works
Self-citationHuman genetic instability syndromes: single gene defects with increased risk of cancer
Digweed, M. (1993) · Toxicology Letters · doi:10.1016/0378-4274(93)90061-2 · Cited by 50 · see citing works
Self-citationHigh percentage acrylamide gels improve resolution in SSCP analysis
Savov, A. S., Angelicheva, D., Jordanova, A., et al. (1992) · Nucleic Acids Research · doi:10.1093/nar/20.24.6741 · Cited by 47 · see citing works
The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11.
Komatsu, K., Matsuura, S., Tauchi, H., et al. (1996) · PubMed · Cited by 30 · see citing works
Recombination and Repair: Ku starts at the end
Troelstra, C., & Jaspers, N. G. J. (1994) · Current Biology · doi:10.1016/s0960-9822(00)00260-8 · Cited by 25 · see citing works
Seyschab, H., Schindler, D., Friedl, R., et al. (1992) · European Journal of Pediatrics · doi:10.1007/bf01959085 · Cited by 22 · see citing works
Stümm, M., Sperling, K., & Wegner, R. ‐. (1997) · PubMed · Cited by 17 · see citing works
Self-citationClark, D. P. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-378589-3.50014-x · Cited by 9 · see citing works
On the nature of a "DNA-processing" defect in ataxia-telangiectasia.
Hanawalt, P. C., & Painter, R. (1985) · PubMed · Cited by 6 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Molecular Mechanisms of Mammalian DNA Repair and the DNA Damage Checkpoints
Sancar, A., Lindsey-Boltz, L. A., Ünsal-Kaçmaz, K., & Linn, S. (2004) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.73.011303.073723 · Cited by 3,317 · see citing works
Cell-cycle checkpoints and cancer
Kastan, M. B., & Bartek, J. (2004) · Nature · doi:10.1038/nature03097 · Cited by 2,836 · see citing works
DNA double-strand breaks: signaling, repair and the cancer connection
Khanna, K. K., & Jackson, S. P. (2001) · Nature Genetics · doi:10.1038/85798 · Cited by 2,455 · see citing works
Pâques, F., & Haber, J. E. (1999) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.63.2.349-404.1999 · Cited by 2,120 · see citing works
Carney, J. P., Maser, R. S., Olivares, H., Davis, E. M., Le Beau, M., Yates, J. R., Hays, L., Morgan, W. F., & Petrini, J. H. J. (1998) · Cell · doi:10.1016/s0092-8674(00)81175-7 · Cited by 1,226 · see citing works
Stewart, G. S., Maser, R. S., Stankovic, T., Bressan, D. A., Kaplan, M. I., Jaspers, N. G. J., Raams, A., Byrd, P. J., Petrini, J. H. J., & Taylor, A. M. R. (1999) · Cell · doi:10.1016/s0092-8674(00)81547-0 · Cited by 1,060 · see citing works
Regulation of p53 in response to DNA damage
Lakin, N. D., & Jackson, S. P. (1999) · Oncogene · doi:10.1038/sj.onc.1203015 · Cited by 987 · see citing works
Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
Lavin, M. F. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2514 · Cited by 901 · see citing works
The MRE11 complex: at the crossroads of DNA repair and checkpoint signalling
D'Amours, D., & Jackson, S. P. (2002) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm805 · Cited by 874 · see citing works
Kao, J., Salari, K., Bocanegra, M., Choi, Y.-L., Girard, L., Gandhi, J., Kwei, K. A., Hernandez-Boussard, T., Wang, P., Gazdar, A. F., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006146 · Cited by 788 · see citing works
ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway
Lim, D.-S., Kim, S.-T., Xu, B., Maser, R. S., Lin, J., Petrini, J. H. J., & Kastan, M. B. (2000) · Nature · doi:10.1038/35007091 · Cited by 786 · see citing works
The many substrates and functions of ATM.
Kastan, M. B., & Lim, D.-S. (2000) · Nature Reviews Molecular Cell Biology · doi:10.1038/35043058 · Cited by 779 · see citing works
Direct Activation of the ATM Protein Kinase by the Mre11/Rad50/Nbs1 Complex
Lee, J.-H., & Paull, T. T. (2004) · Science · doi:10.1126/science.1091496 · Cited by 762 · see citing works
Buck, D., Malivert, L., de Chasseval, R., Barraud, A., Fondanèche, M.-C., Sanal, O., Plebani, A., Stéphan, J.-L., Hufnagel, M., le Deist, F., et al. (2006) · Cell · doi:10.1016/j.cell.2005.12.030 · Cited by 722 · see citing works
Association of BRCA1 with the hRad50-hMre11-p95 Complex and the DNA Damage Response
Zhong, Q., Chen, C.-F., Li, S., Chen, Y., Wang, C.-C., Xiao, J., Chen, P.-L., Sharp, Z. D., & Lee, W.-H. (1999) · Science · doi:10.1126/science.285.5428.747 · Cited by 626 · see citing works
Nbs1 potentiates ATP-driven DNA unwinding and endonuclease cleavage by the Mre11/Rad50 complex
Paull, T. T., & Gellert, M. (1999) · Genes & Development · doi:10.1101/gad.13.10.1276 · Cited by 551 · see citing works
Activation and regulation of ATM kinase activity in response to DNA double-strand breaks
Lee, J.-H., & Paull, T. T. (2007) · Oncogene · doi:10.1038/sj.onc.1210872 · Cited by 545 · see citing works
Identification of microcephalin, a protein implicated in determining the size of the human brain
Jackson, A. P., Eastwood, H., Bell, S. M., Adu, J., Toomes, C., Carr, I. M., Roberts, E., Hampshire, D. J., Crow, Y. J., Mighell, A. J., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/341283 · Cited by 482 · see citing works
ATM-dependent phosphorylation of nibrin in response to radiation exposure
Gatei, M., Young, D., Cerosaletti, K. M., Desai-Mehta, A., Spring, K., Kozlov, S., Lavin, M. F., Gatti, R. A., Concannon, P., & Khanna, K. (2000) · Nature Genetics · doi:10.1038/75508 · Cited by 468 · see citing works
Self-citationThe MRN complex in double‐strand break repair and telomere maintenance
Lamarche, B. J., Orazio, N. I., & Weitzman, M. D. (2010) · FEBS Letters · doi:10.1016/j.febslet.2010.07.029 · Cited by 446 · see citing works
Dasika, G. K., Lin, S.-C. J., Zhao, S., Sung, P., Tomkinson, A., & Lee, E. Y.-H. P. (1999) · Oncogene · doi:10.1038/sj.onc.1203283 · Cited by 427 · see citing works
Recombinational DNA repair and human disease
Thompson, L. H., & Schild, D. (2002) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/s0027-5107(02)00224-5 · Cited by 417 · see citing works
Williams, R. S., Williams, J. S., & Tainer, J. A. (2007) · Biochemistry and Cell Biology · doi:10.1139/o07-069 · Cited by 399 · see citing works
A DNA Damage Response Pathway Controlled by Tel1 and the Mre11 Complex
Usui, T., Ogawa, H., & Petrini, J. H. J. (2001) · Molecular Cell · doi:10.1016/s1097-2765(01)00270-2 · Cited by 384 · see citing works
Mills, K. D., Sinclair, D. A., & Guarente, L. (1999) · Cell · doi:10.1016/s0092-8674(00)80772-2 · Cited by 334 · see citing works
NBS1 Localizes to γ-H2AX Foci through Interaction with the FHA/BRCT Domain
Kobayashi, J., Tauchi, H., Sakamoto, S., Nakamura, A., Morishima, K.-I., Matsuura, S., Kobayashi, T., Tamai, K., Tanimoto, K., & Komatsu, K. (2002) · Current Biology · doi:10.1016/s0960-9822(02)01259-9 · Cited by 306 · see citing works
ATM: Genome stability, neuronal development, and cancer cross paths
(2001) · Advances in Cancer Research · doi:10.1016/s0065-230x(01)83007-4 · Cited by 299 · see citing works
Stracker, T. H., Theunissen, J.-W. F., Morales, M., & Petrini, J. H. J. (2004) · DNA Repair · doi:10.1016/j.dnarep.2004.03.014 · Cited by 263 · see citing works
The yeast Xrs2 complex functions in S phase checkpoint regulation
D'Amours, D., & Jackson, S. P. (2001) · Genes & Development · doi:10.1101/gad.208701 · Cited by 228 · see citing works
Protective effects and mechanisms of sirtuins in the nervous system
Zhang, F., Wang, S., Gan, L., Vosler, P. S., Gao, Y., Zigmond, M. J., & Chen, J. (2011) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.09.001 · Cited by 211 · see citing works
A Murine Model of Nijmegen Breakage Syndrome
Williams, B. R., Mirzoeva, O. K., Morgan, W. F., Lin, J., Dunnick, W., & Petrini, J. H. J. (2002) · Current Biology · doi:10.1016/s0960-9822(02)00763-7 · Cited by 208 · see citing works
RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability
Heikkinen, K. (2005) · Carcinogenesis · doi:10.1093/carcin/bgi360 · Cited by 208 · see citing works
Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability
Tauchi, H., Matsuura, S., Kobayashi, J., Sakamoto, S., & Komatsu, K. (2002) · Oncogene · doi:10.1038/sj.onc.1206136 · Cited by 206 · see citing works
Chk2 Activation Dependence on Nbs1 after DNA Damage
Buscemi, G., Savio, C., Zannini, L., Miccichè, F., Masnada, D., Nakanishi, M., Tauchi, H., Komatsu, K., Mizutani, S., Khanna, K., et al. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.15.5214-5222.2001 · Cited by 201 · see citing works
Self-citationDesai-Mehta, A., Cerosaletti, K. M., & Concannon, P. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.6.2184-2191.2001 · Cited by 196 · see citing works
Self-citationUtilization of Oriented Peptide Libraries to Identify Substrate Motifs Selected by ATM
O'Neill, T., Dwyer, A. J., Ziv, Y., Chan, D. W., Lees-Miller, S. P., Abraham, R. H., Lai, J. H., Hill, D., Shiloh, Y., Cantley, L. C., et al. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m001002200 · Cited by 189 · see citing works
A mechanistic basis for Mre11-directed DNA joining at microhomologies
Paull, T. T., & Gellert, M. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.110144297 · Cited by 188 · see citing works
A Supramodular FHA/BRCT-Repeat Architecture Mediates Nbs1 Adaptor Function in Response to DNA Damage
Lloyd, J., Chapman, J. R., Clapperton, J. A., Haire, L. F., Hartsuiker, E., Li, J., Carr, A. M., Jackson, S. P., & Smerdon, S. J. (2009) · Cell · doi:10.1016/j.cell.2009.07.043 · Cited by 178 · see citing works
Recombination factors of Saccharomyces cerevisiae
Sung, P., Trujillo, K. M., & Van Komen, S. (2000) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/s0027-5107(00)00054-3 · Cited by 180 · see citing works
Tauchi, H., Kobayashi, J., Morishima, K.-I., Matsuura, S., Nakamura, A., Shiraishi, T., Ito, E., Masnada, D., Delia, D., & Komatsu, K. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.c000578200 · Cited by 156 · see citing works
Mdm2 Binds to Nbs1 at Sites of DNA Damage and Regulates Double Strand Break Repair
Alt, J. R., Bouska, A., Fernandez, M. R., Cerny, R. L., Xiao, H., & Eischen, C. M. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m413387200 · Cited by 131 · see citing works
Mechanisms of eukaryotic DNA double strand break repair
Cahill, D. (2006) · Frontiers in bioscience · doi:10.2741/1938 · Cited by 129 · see citing works
Zhang, Y., Zhou, J., & Lim, C. U. (2006) · Cell Research · doi:10.1038/sj.cr.7310007 · Cited by 118 · see citing works
Mre11 Assembles Linear DNA Fragments into DNA Damage Signaling Complexes
Costanzo, V., Paull, T., Gottesman, M., & Gautier, J. (2004) · PLoS Biology · doi:10.1371/journal.pbio.0020110 · Cited by 106 · see citing works
The Pathogenesis of Ataxia-Telangiectasia
Gatti, R. A., Becker-Catania, S., Chun, H. H., Sun, X., Mitui, M., Lai, C.-H., Khanlou, N., Babaei, M., Cheng, R., Clark, C., et al. (2001) · Clinical Reviews in Allergy & Immunology · doi:10.1385/criai:20:1:87 · Cited by 101 · see citing works
Self-citationCheckpoint mechanisms at the intersection between DNA damage and repair
Lazzaro, F., Giannattasio, M., Puddu, F., Granata, M., Pellicioli, A., Plevani, P., & Muzi-Falconi, M. (2009) · DNA Repair · doi:10.1016/j.dnarep.2009.04.022 · Cited by 94 · see citing works
Cerosaletti, K. M., & Concannon, P. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m211689200 · Cited by 74 · see citing works
Self-citationMdmx promotes genomic instability independent of p53 and Mdm2
Carrillo, A. M., Bouska, A., Arrate, M. P., & Eischen, C. M. (2015) · Oncogene · doi:10.1038/onc.2014.27 · Cited by 69 · see citing works
Open-minded scepticism: inferring the causal mechanisms of human ageing from genetic perturbations
de Magalhães, J. P. (2005) · Ageing Research Reviews · doi:10.1016/j.arr.2004.05.003 · Cited by 54 · see citing works
Early onset senescence and cognitive impairment in a murine model of repeated mTBI
Schwab, N., Ju, Y., & Hazrati, L.-N. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01190-x · Cited by 39 · see citing works
A nervous predisposition to unrepaired DNA double strand breaks
Reynolds, J. J., & Stewart, G. S. (2013) · DNA Repair · doi:10.1016/j.dnarep.2013.04.011 · Cited by 26 · see citing works
Cariveau, M. J., Tang, X., Cui, X.-L., & Xu, B. (2007) · Molecular Pharmacology · doi:10.1124/mol.107.036681 · Cited by 22 · see citing works
Familial malignant melanoma ‐ overview
Dębniak, T. (2004) · Hereditary Cancer in Clinical Practice · doi:10.1186/1897-4287-2-3-123 · Cited by 17 · see citing works
- Authors
- Varon, R., Vissinga, C., Platzer, M., Cerosaletti, K. M., Chrzanowska, K. H., Saar, K., Beckmann, G., Seemanová, E., Cooper, P. R., Nowak, N. J., Stumm, M., Weemaes, C. M. R., Gatti, R. A., Wilson, R. K., Digweed, M., Rosenthal, A., Sperling, K., Concannon, P., & Reis, A.
- Affiliations
- Humboldt-Universität zu Berlin (DE)
- University of Washington (US)
- Max Delbrück Center (DE)
- Charles University (CZ)
- Roswell Park Comprehensive Cancer Center (US)
- University of California, Los Angeles (US)
- Washington University in St. Louis (US)
- Corresponding author
- Reis, André
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1998-05
- Volume
- 93
- Issue
- 3
- Pages
- 467-476
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2152054208
- Cited by
- 1,079
- References
- 40
- Citations by year
- 2026: 7 · 2025: 16 · 2024: 17 · 2023: 11 · 2022: 19 · 2021: 21 · 2020: 34 · 2019: 20 · 2018: 19 · 2017: 28 · 2016: 23 · 2015: 27 · 2014: 34 · 2013: 37 · 2012: 27
- FWCI
- 23.72
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- National Institutes of Health (5r01hg000333-24, 5r01ca063333-06)
- National Human Genome Research Institute (HG-00333)
- National Cancer Institute (CA 57569, R01CA057569, CA63333)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Effects of Radiation Exposure
- Keywords
- NBS1, Nijmegen breakage syndrome, DNA double-strand break repair, chromosomal instability, ataxia telangiectasia, cell cycle checkpoint proteins, forkhead-associated domain, truncating mutations, haplotypes, cancer susceptibility, immunodeficiency
- MeSH terms
- Amino Acid Sequence, Base Sequence, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 8, Cloning, Molecular, DNA Damage, DNA Repair, Female, Genes, Recessive, Humans, Male, Microcephaly, Molecular Sequence Data, Nuclear Proteins, RNA, Messenger, Syndrome, Linkage Disequilibrium, Sequence Deletion, Sequence Homology, Amino Acid, Sequence Analysis, DNA, Founder Effect, Cell Cycle Proteins, Chromosome Breakage, Chromosome Disorders
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
