Citations for
1NBN, POLH, RAD18
Functional Role of NBS1 in Radiation Damage Response and Translesion DNA Synthesis.
Saito Y, Komatsu K.
Biomolecules 5(3):1990-2002. doi: 10.3390/biom5031990. Review. 2015
2ATMIN, NBN
DNA Repair Cofactors ATMIN and NBS1 Are Required to Suppress T Cell Activation.
Prochazkova J, Sakaguchi S, Owusu M, Mazouzi A, Wiedner M, Velimezi G, Moder M, Turchinovich G, Hladik A, Gurnhofer E, Hayday A, Behrens A, Knapp S, Kenner L, Ellmeier W, Loizou JI.
PLoS Genet. Nov 6;11(11):e1005645. doi: 10.1371/journal.pgen.1005645. eCollection 2015 Nov 2015
3NBN, TCOF1
Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.
Ciccia A, Huang JW, Izhar L, Sowa ME, Harper JW, Elledge SJ.
Proc Natl Acad Sci U S A 111(52):18631-6. doi: 10.1073/pnas.1422488112. Epub 2014 Dec 15. 2014
4NBN, TCOF1
The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.
Larsen DH, Hari F, Clapperton JA, Gwerder M, Gutsche K, Altmeyer M, Jungmichel S, Toledo LI, Fink D, Rask MB, Grøfte M, Lukas C, Nielsen ML, Smerdon SJ, Lukas J, Stucki M.
Nat Cell Biol 16(8):792-803. doi: 10.1038/ncb3007. Epub 2014 Jul 27. 2014
5NBN, NBS1
Identification of the Interactors of Human Nibrin (NBN) and of Its 26 kDa and 70 kDa Fragments Arising from the NBN 657del5 Founder Mutation.
Cilli D, Mirasole C, Pennisi R, Pallotta V, D'Alessandro A, Antoccia A, Zolla L, Ascenzi P, di Masi A.
PLoS One 9(12):e114651. doi: 10.1371/journal.pone.0114651. eCollection 2014. 2014
6NBN, NBS1
Nijmegen breakage syndrome fibroblasts expressing the C-terminal truncated NBNp70 protein undergo p38/MK2-dependent premature senescence.
Davis T, Tivey HS, Brook AJ, Kipling D.
Biogerontology iogerontology. 2014 Sep 12. [Epub ahead of print] 2014
7ATM, NBN, NBS1
Nbn and atm cooperate in a tissue and developmental stage-specific manner to prevent double strand breaks and apoptosis in developing brain and eye.
Rodrigues PM, Grigaravicius P, Remus M, Cavalheiro GR, Gomes AL, Rocha-Martins M, Frappart L, Reuss D, McKinnon PJ, von Deimling A, Martins RA, Frappart PO.
PLoS One 8(7):e69209. doi: 10.1371/journal.pone.0069209. Print 2013. Erratum in: PLoS One. 2013;8(8). doi:10.1371/annotation/b38f50e0-04b 2013
8MAPKAP1, MTOR, NBN, RICTOR
Interaction between NBS1 and the mTOR/Rictor/SIN1 complex through specific domains.
Wang JQ, Chen JH, Chen YC, Chen MY, Hsieh CY, Teng SC, Wu KJ.
PLoS One 8(6):e65586. doi: 10.1371/journal.pone.0065586. Print 2013. 2013
9NBN, NBS1
Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.
Salewsky B, Wessendorf P, Hirsch D, Krenzlin H, Digweed M.
Gene 519(2):217-21. doi: 10.1016/j.gene.2013.02.033. Epub 2013 Feb 28. 2013
10NBN
Increased expression of phosphorylated NBS1, a key molecule of the DNA damage response machinery, is an adverse prognostic factor in patients with de novo myelodysplastic syndromes.
Kefala M, Papageorgiou SG, Kontos CK, Economopoulou P, Tsanas A, Pappa V, Panayiotides IG, Gorgoulis VG, Patsouris E, Foukas PG.
Leuk Res 37(11):1576-82. doi: 10.1016/j.leukres.2013.08.018. Epub 2013 Sep 5. 2013
11DNMT1, NBN
Regulatory interaction between NBS1 and DNMT1 responding to DNA damage.
Hayashi N, Kobayashi M, Shamma A, Morimura Y, Takahashi C, Yamamoto K.
J Biochem 154(5):429-35. doi: 10.1093/jb/mvt071. Epub 2013 Aug 5. 2013
12ATR, NBN
Two distinct modes of ATR activation orchestrated by Rad17 and Nbs1.
Shiotani B, Nguyen HD, Håkansson P, Maréchal A, Tse A, Tahara H, Zou L.
Cell Rep 3(5):1651-62. doi: 10.1016/j.celrep.2013.04.018. Epub 2013 May 16. 2013
13ATM, ATR, NBN, TOPBP1
NBS1 directly activates ATR independently of MRE11 and TOPBP1.
Kobayashi M, Hayashi N, Takata M, Yamamoto K.
Genes Cells 18(3):238-46. doi: 10.1111/gtc.12031. Epub 2013 Feb 1. 2013
14BRCA1, NBN, RBBP8
The interaction of CtIP and Nbs1 connects CDK and ATM to regulate HR-mediated double-strand break repair.
Wang H, Shi LZ, Wong CC, Han X, Hwang PY, Truong LN, Zhu Q, Shao Z, Chen DJ, Berns MW, Yates JR 3rd, Chen L, Wu X.
PLoS Genet 9(2):e1003277. doi: 10.1371/journal.pgen.1003277. Epub 2013 Feb 28. 2013
15ATM, NBN, SKP2
Skp2 E3 ligase integrates ATM activation and homologous recombination repair by ubiquitinating NBS1.
Wu J, Zhang X, Zhang L, Wu CY, Rezaeian AH, Chan CH, Li JM, Wang J, Gao Y, Han F, Jeong YS, Yuan X, Khanna KK, Jin J, Zeng YX, Lin HK.
Mol Cell 46(3):351-61. doi: 10.1016/j.molcel.2012.02.018. Epub 2012 Mar 29. 2012
16NBN
NBS1 deficiency promotes genome instability by affecting DNA damage signaling pathway and impairing telomere integrity.
Hou YY, Toh MT, Wang X.
Cell Biochem Funct 30(3):233-42. doi: 10.1002/cbf.1840. Epub 2011 Dec 9. 2012
17NBN, RNF8
The RING finger protein RNF8 ubiquitinates Nbs1 to promote DNA double-strand break repair by homologous recombination.
Lu CS, Truong LN, Aslanian A, Shi LZ, Li Y, Hwang PY, Koh KH, Hunter T, Yates JR 3rd, Berns MW, Wu X.
J Biol Chem 287(52):43984-94. doi: 10.1074/jbc.M112.421545. Epub 2012 Oct 31. 2012
18EP300, NBN
Acetyltransferase p300 regulates NBS1-mediated DNA damage response.
Jang ER, Choi JD, Lee JS.
FEBS Lett 585(1):47-52. Epub 2010 Nov 23. 2011
19BLM, DNA2, EXO1, NBN
BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair.
Nimonkar AV, Genschel J, Kinoshita E, Polaczek P, Campbell JL, Wyman C, Modrich P, Kowalczykowski SC.
Genes Dev 25(4):350-62. 2011
20NBN, RAD18
NBS1 recruits RAD18 via a RAD6-like domain and regulates Pol η-dependent translesion DNA synthesis.
Yanagihara H, Kobayashi J, Tateishi S, Kato A, Matsuura S, Tauchi H, Yamada K, Takezawa J, Sugasawa K, Masutani C, Hanaoka F, Weemaes CM, Mori T, Zou L, Komatsu K.
Mol Cell. 43(5):788-97. 2011
21HSF4, HSPA14, HSPA4, NBN
Induction of HSPA4 and HSPA14 by NBS1 overexpression contributes to NBS1-induced in vitro metastatic and transformation activity.
Wu CY, Lin CT, Wu MZ, Wu KJ.
J Biomed Sci 18:1. 2011
22BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MRE11A, MSH6, NBN, PALB2, RAD50, RAD51c, TP53
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM.
Proc Natl Acad Sci U S A 108(44):18032-7. doi: 10.1073/pnas.1115052108. Epub 2011 Oct 17. 2011
23MDC1, NBN
A divalent FHA/BRCT-binding mechanism couples the MRE11-RAD50-NBS1 complex to damaged chromatin.
Hari FJ, Spycher C, Jungmichel S, Pavic L, Stucki M.
EMBO Rep 11(5):387-92. Epub 2010 Mar 12. 2010
24NBN
Dual functions of Nbs1 in the repair of DNA breaks and proliferation ensure proper V(D)J recombination and T-cell development.
Saidi A, Li T, Weih F, Concannon P, Wang ZQ.
Mol Cell Biol 30(23):5572-81. Epub 2010 Oct 4. 2010
25NBN, RAD50
RAD50 and NBS1 form a stable complex functional in DNA binding and tethering.
van der Linden E, Sanchez H, Kinoshita E, Kanaar R, Wyman C.
Nucleic Acids Res 37(5):1580-8. Epub 2009 Jan 16. 2009
26NBN
Nuclear export of NBN is required for normal cellular responses to radiation.
Vissinga CS, Yeo TC, Warren S, Brawley JV, Phillips J, Cerosaletti K, Concannon P.
Mol Cell Biol 29(4):1000-6. Epub 2008 Dec 15. 2009
27ATM, H2AFX, NBN
Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS1.
Kobayashi J, Tauchi H, Chen B, Bruma S, Tashiro S, Matsuura S, Tanimoto K, Chen DJ, Komatsu K.
Biochem Biophys Res Commun 380(4):752-7. Epub 2009 Jan 23. 2009
28NBN, NBS1
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.
Lins S, Kim R, Krüger L, Chrzanowska KH, Seemanova E, Digweed M.
Gene 447(1):12-7. Epub 2009 Jul 25.PMID: 19635536 2009
29NBN, NBS1
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, Antoccia A.
Biochem Biophys Res Commun 369(3):835-40. Epub 2008 Mar 6. 2008
30MDC1, NBN
MDC1 regulates intra-S-phase checkpoint by targeting NBS1 to DNA double-strand breaks.
Wu L, Luo K, Lou Z, Chen J.
Proc Natl Acad Sci U S A 105(32):11200-5. Epub 2008 Aug 4. 2008
31NBN
Nijmegen Breakage Syndrome mutations and risk of breast cancer.
Bogdanova N, Feshchenko S, Schürmann P, Waltes R, Wieland B, Hillemanns P, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Varon R, Dörk T.
Int J Cancer 122(4):802-6.PMID: 17957789 2008
32NBS1, NBN
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
Varon R, Muer A, Wagner K, Zierler H, Sodia S, Rauter L, Petek E, Tonnies H, Neitzel H, Sperling K, Kroisel PM.
Am J Med Genet A 143(1):92-4. No abstract available. 2007
33NBN
Overexpression of NBS1 induces epithelial-mesenchymal transition and co-expression of NBS1 and Snail predicts metastasis of head and neck cancer.
Yang MH, Chang SY, Chiou SH, Liu CJ, Chi CW, Chen PM, Teng SC, Wu KJ.
Oncogene 26(10):1459-67. Epub 2006 Aug 28. 2007
34NBN, NBS1
NBS1, the Nijmegen breakage syndrome gene product, regulates neuronal proliferation and differentiation.
Lee WT, Chang WH, Huang CH, Wu KJ.
J Neurochem 102(1):141-52. Epub 2007 Apr 17. 2007
35NBS1, NBN
Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stockl L, Spadoni E, Kruger LA, Masi A, Sperling K, Digweed M, Maraschio P.
Hum Mol Genet 15(5):679-89. Epub 2006 Jan 13. 2006
36NBN, NBS1
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.
Seemanova E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O, Schrock E, Seeman P, Digweed M.
J Med Genet 43(3):218-24. Epub 2005 Jul 20. 2006
37ATM, RAD50, NBN
Active role for nibrin in the kinetics of atm activation.
Cerosaletti K, Wright J, Concannon P.
Mol Cell Biol 26(5):1691-9. 2006
38NBN
Nibrin functions in Ig class-switch recombination.
Kracker S, Bergmann Y, Demuth I, Frappart PO, Hildebrand G, Christine R, Wang ZQ, Sperling K, Digweed M, Radbruch A.
Proc Natl Acad Sci U S A 102(5):1584-9. Epub 2005 Jan 24. 2005
39NBS1, NBN
An essential function for NBS1 in the prevention of ataxia and cerebellar defects.
Frappart PO, Tong WM, Demuth I, Radovanovic I, Herceg Z, Aguzzi A, Digweed M, Wang ZQ.
Nat Med 11(6):538-44. Epub 2005 Apr 10. 2005
40ATR, SMC1A, RAD50, NBN
Rad50 depletion impacts upon ATR-dependent DNA damage responses.
Zhong H, Bryson A, Eckersdorff M, Ferguson DO.
Hum Mol Genet 14(18):2685-93. Epub 2005 Aug 8. 2005
41NBN
Overexpression of NBS1 contributes to transformation through the activation of phosphatidylinositol 3-kinase/Akt.
Chen YC, Su YN, Chou PC, Chiang WC, Chang MC, Wang LS, Teng SC, Wu KJ.
J Biol Chem 280(37):32505-11. Epub 2005 Jul 21. 2005
42NBS1, NBN
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, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M.
Hum Genet 115(5):372-6. Epub 2004 Aug 24. 2004
43NBS1, NBN
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.
Demuth I, Frappart PO, Hildebrand G, Melchers A, Lobitz S, Stockl L, Varon R, Herceg Z, Sperling K, Wang ZQ, Digweed M.
Hum Mol Genet 13(20):2385-97. Epub 2004 Aug 27. 2004
44NBS1, NBN
NBS1 is a prostate cancer susceptibility gene.
Cybulski C, Gorski B, Debniak T, Gliniewicz B, Mierzejewski M, Masojc B, Jakubowska A, Matyjasik J, Zlowocka E, Sikorski A, Narod SA, Lubinski J.
Cancer Res 64(4):1215-9. 2004
45NBS1, NBN
New mutations and protein variants of NBS1 are identified in cancer cell lines
Tessitore A, Biordi L, Flati V, Toniato E, Marchetti P, Ricevuto E, Ficorella C, Scotto L, Giannini G, Frati L, Masciocchi C, Tombolini V, Gulino A, Martinotti S.
Genes Chromosomes Cancer 36(2):198-204. 2003
46NBS1, NBN
Chromosome instability and nibrin protein variants in NBS heterozygotes.
Tanzanella C, Antoccia A, Spadoni E, di Masi A, Pecile V, Demori E, Varon R, Marseglia GL, Tiepolo L, Maraschio P.
Eur J Hum Genet 11(4):297-303. No abstract available. 2003
47NBS1, NBN
657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.
Resnick IB, Kondratenko I, Pashanov E, Maschan AA, Karachunsky A, Togoev O, Timakov A, Polyakov A, Tverskaya S, Evgrafov O, Roumiantsev AG.
Am J Med Genet 120A(2):174-9. 2003
48BLM, MRE11A, NBS1, RAD50, WRN, NBN
Protecting genomic integrity during DNA replication: correlation between Werner's and Bloom's syndrome gene products and the MRE11 complex.
Franchitto A, Pichierri P.
Hum Mol Genet 11(20):2447-53. 2002
49NBS1, NBN
Nijmegen breakage syndrome gene (NBS1) alterations and its protein (nibrin) expression in human ovarian tumours.
Plisiecka-HaLasa J, Dansonka-Mieszkowska A, Rembiszewska A, Bidzinski M, Steffen J, Kupryjanczyk J.
Ann Hum Genet 66(Pt 6):353-9. 2002
50NBS1, NBN
Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma.
Cerosaletti KM, Morrison VA, Sabath DE, Willerford DM, Concannon P.
Genes Chromosomes Cancer 35(3):282-6. 2002
51NBS1, NBN
A novel mutation and novel features in Nijmegen breakage syndrome.
Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, Reis A, Besana D, Guala A, Tiepolo L.
J Med Genet 38(2):113-7. No abstract available. 2001
52NBS1, NBN
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele.
Maser RS, Zinkel R, Petrini JH.
Nat Genet 27(4):417-21. 2001
53NBS1, NBN
Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).
Varon R, Reis A, Henze G, von Einsiedel HG, Sperling K, Seeger K.
Cancer Res 61(9):3570-2. 2001
54NBS1, NBN
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.
Kleier S, Herrmann M, Wittwer B, Varon R, Reis A, Horst J.
Clin Genet 57(5):384-7. 2000
55NBS1, NBN
ATM-dependent phosphorylation of nibrin in response to radiation exposure.
Gatei M, Young D, Cerosaletti KM, Desai-Mehta A, Spring K, Kozlov S, Lavin MF, Gatti RA, Concannon P, Khanna K.
Nat Genet 25(1):115-9. 2000
56NBS1, NBN
Clinical ascertainment of nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three slav populations.
Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A.
Eur J Hum Genet 8(11):900-2. 2000
57OSGIN2, NBS1, NBN
Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the nijmegen breakage syndrome gene, NBS1.
Tauchi H, et al.
Genomics 55(2):242-7. 1999
58NBS1, NBN
Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer.
Carlomagno F, et al.
Genes Chromosomes Cancer 25(4):393-5. 1999
59NBS1, NBN
Positional cloning of the gene for Nijmegen breakage syndrome.
Matsuura S, et al.
Nat Genet 19 : 179-181. 1998
60NBS1, NBN
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome : linkage of double-strand break repair to the cellular DNA damage response.
Carney JP, et al.
Cell 93 : 477-486. 1998
61NBS1, NBN
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Varon R, et al.
Cell 93 : 467-476. 1998
62NBS1, NBN
Fine localization of the Nigmegen breakage syndrome gene to 8q21 : evidence for a common founder haplotype.
Cerosaletti KM, et al.
Am J Hum Genet 63 : 125-134. 1998
63MRE11A, NBS1, NBN
Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95.
Trujillo KM, Yuan SS, Lee EY, Sung P.
J Biol Chem 273(34):21447-50. 1998
64MRE11A, NBS1, NBN
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response.
Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR 3rd, Hays L, Morgan WF, Petrini JH.
Cell 93(3):477-86. 1998
65NBS1, NBN
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.
Saar K, et al.
Am J Hum Genet 60 : 605-610. 1997
66NBS1, NBN
Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24.
Matsuura S, Weemaes C, Smeets D, Takami H, Kondo N, Sakamoto S, Yano N, Nakamura A, Tauchi H, Endo S, Oshimura M, Komatsu K.
Am J Hum Genet 60(6):1487-94. 1997
67NBS1, NBN
Mapping Nijmegen Breakage syndrome to 8q21 and construction of a radiation hybrid map of the D8S1757-D8S506 region. (abstr)
Cerosaletti K, et al.
Am J Hum Genet 61 : A32. 1997