Property Summary

NCBI Gene PubMed Count 367
PubMed Score 91.64
PubTator Score 1020.42

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.031 8.3e-03
Multiple myeloma 1.028 2.0e-02
psoriasis -1.500 1.2e-03
autosomal dominant Emery-Dreifuss muscul... 1.050 4.4e-03
lung cancer 1.300 3.4e-02
non primary Sjogren syndrome sicca 1.100 2.2e-02
gastric carcinoma 1.900 9.7e-03
ulcerative colitis 1.200 3.1e-06
ovarian cancer 2.300 6.5e-05
pituitary cancer -1.200 1.1e-04

Gene RIF (349)

PMID Text
26869104 VRK1 regulation of NBS1 contributes to the stability of the repair complex and permits the sequential steps in DNA damage response.
26616756 Study shows that NBS1 may function in histone modification and in the coordination of chromatin remodeling to promote efficient and effective DNA double-strand break repair. [review]
26584681 NBS1 expression exhibited an association with epithelial ovarian cancers recurrence.
26544571 findings reveal a novel model for an intestinal bowel disease phenotype that occurs upon combined loss of the DNA repair cofactors ATMIN and NBS1
26514363 This study found a significant trend indicating that the risk increases as the number of adverse alleles increase and significant three-locus interaction model involving NBS1 rs1805794, MRE11 rs10831234, and ATM rs227062.
26493193 NBS1 E185Q allele carriers in renal cell carcinoma male patients had a lower 5-year survival rate.
26482424 kinetics of the accumulation of selected DNA repair-related proteins is protein specific at locally induced DNA lesions, and that the formation of gH2AX- and NBS1-positive foci, but not 53BP1-positive NBs, is cell cycle dependent in HeLa cells
26438602 These findings indicate the importance of the acetylation-dependent dynamic binding of NBS1 to damaged chromatin, created by histone H2AX exchange, for the proper accumulation of NBS1 at DNA damage sites.
26402912 genetic variants at NBN gene may contribute to gastric cancer susceptibility.
26308066 NBS1 has multifunctional roles in response to DNA damage from a variety of genotoxic agents, including IR
26186548 the rs2735383C/G polymorphism of NBS1 might contribute to the risk for colorectal cancer.
26068589 The MRN complex is essential to restrain MYCN-induced replication stress during neural cell proliferation.
25959252 Co-expression of HIF-1a and NBS1 in primary tumors of patients with lung adenocarcinoma correlates with a worse prognosis
25903339 This work demonstrates that the Mre11-Rad50-Nbs1 DNA repair complex positively regulates AAV replication and plays a role in the integration of adeno-associated airus in the presence of herpes simplex virus 1.
25771871 The rs1805794G>C of NBS1 may be a functional genetic biomarker for lung cancer.[meta-analysis]
25712764 The heterozygous variant p.I171V in NBS1 was found at a low frequency and without clinical significance among Korean patients with high-risk breast cancer lacking BRCA1 and BRCA2 mutations.
25576492 Furthermore, they collectively help to explain how MRN regulates DNA repair pathway choice. [review]
25542228 our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphisms in the DNA repair pathways may influence the response to chemotherapy and OS of gastric cancer.
25512513 findings identify TCOF1 as a DDR factor that could cooperate with ATM and NBS1 to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage.
25485873 Mutations within the NBN gene are responsible for the Nijmegen breakage syndrome.
25415046 In vitro studies correlated NBN gene overexpression with PCa cells radioresistance.
25320294 These results articulate a model of inhibition of adeno-associated virus gene expression in which physical interaction of viral DNA with Mre11/Rad50/Nbs1 complex is more important than enzymatic activity.
25214013 NBN(p70) expressing cells undergo a degree of stress-induced replicative senescence via p38/MK2 activation.
25213441 ATP switches the Mre11-Rad50-Nbs1 repair factor between signaling and processing of DNA ends. (Review)
25176580 our results did not confirm the hypothesis of a possible role of NBN and XRCC3 SNPs in acute lymphoblastic leukaemia risk.
25088203 Data provide compelling evidence that BMI1 decreases etoposide-induced G2/M checkpoint activation via reducing NBS1-mediated ATM activation.
25073514 NBS1 Glu185Gln polymorphism is associated with increased risk for urinary system cancer.
25064736 Treacle-mediated NBS1 recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks.
24894818 These data establish that MRE11A, RAD50, and NBN are intermediate-risk breast cancer susceptibility genes.
24850735 The results suggest that Nbs1 contributes to viral replication outside its role as an ATM activator, potentially through ensuring localization of DNA repair factors to viral genomes that are necessary for efficient productive replication.
24830725 the NBS1-I171V variant reduces DSB repair activity through loss of association with MDC1.
24722796 NSB1 Glu185Gln polymorphism is associated with treatment response in advanced non-small cell lung cancer.
24659671 there was no correlation between the p95-HER2 expression and resistance to trastuzumab.
24614819 Expression of the forkhead-associated domain-mutated NBS1 rendered the exponentially growing cell population slightly (but significantly) more sensitive to ionizing radiation.
24510842 Study identifies an association of NBS1 expression with surrogates of genomic instability in prostate cancer including TMPRSS2-ERG rearrangements and PTEN deletion.
24349281 These findings provide novel insight on the molecular pathogenesis of primary liver cancer characterized by mutation inactivation of NBS1, a DNA repair associated gene.
24220101 The Mre11-Rad50-Nbs1 (MRN) complex further stimulates resection in the presence of Ku and DNA-PKcs by recruiting Exo1 and enhancing DNA-PKcs autophosphorylation, and it also inhibits DNA ligase IV/XRCC4-mediated end rejoining.
24166361 The adjusted HR relating smoking to mortality in non-small cell lung cancer (NSCLC) was greater for cases with the GG genotype of NBS1 rs1061302 than for cases with AA/AG genotypes.
24141789 NBS1 is a key FOXM1 target gene involved in DNA damage response, genotoxic drug resistance and DNA damage-induced senescence
24113799 The NBS1 gene rs2735383, rs1063054, I171V, 657del5 and R215W polymorphisms are low-penetrance risk factors for cancer development.
24072268 The survival of women with breast cancer and a NBS1 mutation is similar to that of patients without a NBS1 mutation.
24054861 Increased phosphorylated NBS1 expression is associated with myelodysplastic syndromes.
23979977 current evidence did not suggest that the NBS1 Glu185Gln polymorphism was associated with overall cancer risk, but this polymorphism might contribute to the risk for some specific cancer sites due to potential different mechanisms
23954013 We found a significant relation between the expression of MRE11, NIBRIN and the postoperative survival of patients with pancreatic ductal adenocarcinoma
23918933 The results suggest that DNMT1 function in the regulatory response is controlled by NBS1.
23765759 There is a significant association between NBS1 polymorphisms and breast cancer risk. [Meta-analysis]
23762398 NBS1 interacts with the mTOR/Rictor/SIN1 complex through the a.a. 221-402 domain and contributes to the activation of Akt activity.
23684611 Nbs1 Mediates RPA32 Phosphorylation Independently of Rad17 and ssDNA/dsDNA Junctions.
23525106 Ataxia telangiectasia-mutated (ATM) kinase activity is regulated by ATP-driven conformational changes in the Mre11/Rad50/Nbs1 (MRN) complex.
23468639 These studies reveal one important mechanism to regulate cell-cycle-dependent activation of HR upon DNA damage by coupling CDK- and ATM-mediated phosphorylation of CtIP through modulating the interaction of CtIP with Nbs1
23458873 Truncated nibrin and misfolded nibrin have different clearance pathways. p70-nibrin is degraded by the proteasome with varying efficiency in cell lines from different NBS patients.
23381647 NBS1 Glu185Gln polymorphism is not associated with breast cancer risk.
23368512 NBS1 binds ATR and activates ATR independently of TOPBP1 and MRE11.
23317186 657del5 mutation in the NBS1 gene is associated with breast cancer.
23291854 demonstrate that protection from double-strand break damage in ER+ cells is mediated via regulation by c-myc, p53, CBP and SRC1 coactivators in intron 1 of the NBS1 gene.
23283743 NBS1 rs1805794G>C polymorphism is associated with decreased risk of acute myeloid leukemia in a Chinese population.
23275190 This meta-analysis supports that there is an association between NBS1 Glu185Gln polymorphism and lung cancer risk.
23149842 A mutation in NBS1 predisposes to aggressive prostate cancer.
23146902 following the induction of DSBs, phosphorylation of NBN regulates its accumulation, and that of ATM, at sites of DNA DSB as well as the timing of the repair of these sites.
23115235 Nbs1 is one important target of RNF8 to regulate DNA DSB repair.
22941933 The cleavage of the breast cancer 1 carboxy-terminal (BRCT) domain of NBN by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation in the Nijmegen breakage syndrome patients.
22927831 By a chemical-genetic approach study identified Nbs1 as a target of Cdk2, and mapped the phosphorylation to a conserved CDK consensus recognition site.
22864661 NBN truncating mutation is associated with hereditary prostate cancer.
22851427 NBN gene product nibrin plays an important role at different levels in the B-cell system and in the pathology of the Nijmegen breakage syndrome.
22752646 Results suggest an important role of NBN 1197A>G and XRCC3-316A>G polymorphisms in the development of second neoplasm in patients treated for childhood acute lymphoblastic leukemia (ALL).
22740413 Mre11 and Nbs1 are sumoylated during Ad5 infection and the E4-ORF3 protein is necessary and sufficient to induce SUMO conjugation. Relocalization of Mre11 and Nbs1 into E4-ORF3 nuclear tracks is required for this modification to occur.
22631660 findings suggest that NBS1 polymorphisms may be genetic biomarkers for non-small cell lung cancer prognosis especially progression-free survival with platinum-based chemotherapy in the Chinese population
22565321 NBS1 phosphorylation defines a molecular switch that controls the choice of repair mode for DNA double strand breaks.
22491912 The frequency of the NBN 657del5 and R215W mutations in the Czech population is low, and no association of these mutations with breast cancer susceptibility was demonstrated.
22464731 NBS1 ubiquitination is a vital event for ATM activation in response to DNA damage.
22430443 Single nucleotide polymorphisms in NBS1 gene modify the association between occupational exposure to solvents and is associated with non-Hodgkin's lymphoma.
22413803 a possible new role for NBS1 in prostate cancer progression
22161642 NBS1 deficiency promotes genome instability by affecting DNA damage signaling pathway and impairing telomere integrity.
22131123 possible that heterozygous NBN mutations may contribute to cancer development
22114071 The hsa-miR-629 but not hsa-miR-499-5P had effect on modulation of NBS1 gene in vitro.
22070649 Genetic variation in the NBS1 gene is associated with hepatic cancer.
21987080 haplotypes in NBN and XRCC4, and CDKN2A were associated with structural and numerical change subtypes, respectively, in childhood acute lymphoblastic leukemia
21889209 657del5 NBN mutation is associated with childhood acute lymphoblastic leukemia.
21816818 Human Mre11/human Rad50/Nbs1 and DNA ligase IIIalpha/XRCC1 protein complexes act together in an alternative nonhomologous end joining pathway.
21811815 germline variants of RAD50 and NBS1 in non-BRCA1/2 high-risk families were not correlated with a breast cancer susceptibility in a cohort of Chinese women.
21656575 findings suggest that E185Q polymorphism in NBS1 may be a genetic modifier for the occurrence and aggression of nasopharyngeal carcinoma
21472885 NBN polymorphisms did not show marked differences, but significant differences in haplotype frequencies of NBN between head and neck cancer patients and controls were found.
21436738 NBN gene mutation I171V is not associated with malignant solid tumors in children.
21325134 BLM increases the affinity of EXO1 for ends, and MRN recruits and enhances the processivity of EXO1.
21215087 The G/G genotype at NBS1 rs1805794 site and the Hap4-GC haplotype and Hap4/Hap2 di-haplotype from rs1805794 and rs2735383 were both associated with lung cancer.
21208456 a novel pathway (NBS1-HSF4b-HSPA4/HSPA14 axis) to induce migration, invasion, and transformation, suggesting the activation of multiple signaling events induced by NBS1 overexpression
21166880 E185Q polymorphism in NBS1 may be a genetic modifier for developing ALL.
21130714 S phase checkpoint observed 4-8h after MMS+4-AN treatment was absent in cells deficient in NBS1, but was present in NBS1-complemented (i.e., functionally wild-type) cells, indicating a critical role for NBS1 in this checkpoint response.
21108945 Results indicate that phosphorylation of p300 can regulate NBS1-mediated DNA damage response, and that these events occur in an acetylation-dependent manner.
20975951 Studies indicate that codon-based models of gene evolution yielded statistical support for the recurrent positive selection of five NHEJ genes during primate evolution: XRCC4, NBS1, Artemis, POLlambda, and CtIP.
20921278 deletion of the entire Nbs1 protein in T-cell precursors (Nbs1(T-del)) results in severe lymphopenia and a hindrance to the double-negative 3 (DN3)-to-DN4 transition in early T-cell development
20813000 Meta-analysis of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20731661 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20729302 NBN is involved in the cellular defense against O(6)-methylguanine-inducing agents such as temozolomide and identify NBN as a critical target of methylating anticancer drug resistance.
20720310 Observational study of gene-disease association. (HuGE Navigator)
20682289 this study shows significant differences in the levels of expression of MRN complex subunits, Mre11-Rad50-Nbs1, among various cancer cells and somatic cells.
20644561 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20610542 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20600238 WRN protein participates in the DNA translesion synthesis pathway to prevent genomic instability in an ATM/NBS1-dependent manner.
20571895 genetic polymorphism is associated with the risk of systemic lupus erythematosus in Taiwanese patients
20571895 Observational study of gene-disease association. (HuGE Navigator)
20522537 Observational study of gene-disease association. (HuGE Navigator)
20496165 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20478923 NBS1 polymorphisms and haplotypes may be associated with smoking-related cancers and that these associations may differ by smoking status.
20478923 Observational study of gene-disease association. (HuGE Navigator)
20471956 These data demonstrate that ATM transduces a DNA damage signal to p300, and that ATM-dependent phosphorylation of p300 is required for stabilization of NBS1 proteins in response to DNA damage.
20453309 The high frequency of a sequence deletion in this gene occurs in a high percentage of people of Slavic origin in Northeast Bavaria.
20453309 Observational study of genotype prevalence. (HuGE Navigator)
20453000 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20232390 Observational study of gene-disease association. (HuGE Navigator)
20224574 Only mutation in the FHA domain, but not in the BRCT domains, yields a G2/M checkpoint defect, indicating that MDC1-dependent chromatin accumulation of the MRN complex at sites of DNA breaks is not required for G2/M checkpoint activation.
20175780 Identification of increased NBS1 expression as a prognostic marker of squamous cell carcinoma of the oral cavity is reported.
20150366 Observational study of gene-disease association. (HuGE Navigator)
20143155 Meta-analysis strongly suggests the NBS1 8360G > C polymorphism is associated with breast cancer.
20010693 53BP1 promotes ATM activity through direct interactions with the MRN complex.
20004634 may influence the repair capacity of breast cancer patients and, in turn, confer genetic predisposition to disease
20004634 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20003485 Plays role in the 3'-processing reaction and protection of the ends of viral DNA (HIV-1) after reverse transcription. Involved in multiple steps including integration and pre-integration steps during retroviral replication.
19950226 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19917125 These results suggest an influence of NBS1 on susceptibility to diffuse large B-cell lymphoma and marginal zone lymphoma
19917125 Observational study of gene-disease association. (HuGE Navigator)
19910469 MRE11-RAD50-NBS1 complex dictates DNA repair independent of H2AX.
19908051 heterozygous NBN germ-line mutations may contribute to the etiology of medulloblastoma
19908051 Observational study of gene-disease association. (HuGE Navigator)
19904603 there is no evidence that mutations in Rad50 and NBS1 are a significant breast cancer risk factor in Chinese population
19904603 Observational study of gene-disease association. (HuGE Navigator)
19862546 summarise recent observation on MRN (composed of Mre11, Rad50 and Nbs1)structure, function, regulation and emerging mechanisms by which the MRN nano-machinery protects genomic integrity.[REVIEW]
19804756 Study establishes that human Nbs1 interactions with Mdc1 occur through both its FHA- and BRCT-repeat domains, suggesting how their structural and functional interdependence underpins Nbs1 adaptor functions in the DNA-damage response.
19804755 Fission yeast and human Nbs1 structures defined by X-ray crystallography and small angle X-ray scattering (SAXS) reveal Nbs1 cardinal features: fused, extended, FHA-BRCT(1)-BRCT(2) domains flexibly linked to C-terminal Mre11- and ATM-binding motifs.
19789190 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19773279 Observational study of gene-disease association. (HuGE Navigator)
19772428 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19714462 -based tests identified significant associations between specific haplotypes in MRE11A and NBS1 genes and breast cancer risk.
19714462 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19706757 Meta-analysis of gene-disease association and gene-environment interaction. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19690177 Observational study of gene-disease association. (HuGE Navigator)
19661089 Observational study of gene-disease association. (HuGE Navigator)
19635536 Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
19629396 NBN gene alterations may play a role in astrocytic tumor development in association with mutations in other genes, possibly involved in the same DNA repair pathway.
19629396 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19609304 Inhibition of MRE11, NBS1 or RAD50 leads to a destabilization of FANCD2.
19597488 Data show that initiation and maintenance of the IL-6 secretion required the DDR proteins ATM, NBS1 and CHK2.
19597347 DNA ligase I and Nbs1 colocalize at replication factories during unperturbed replication and after treatment with DNA damaging agents.
19586055 In the response to DNA damage MRE11 and NBS1 are sufficient for interactions with replication protein A and the MRE11-RAD50-NBS1 (MRN) complex.
19584272 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19573080 Observational study of gene-disease association. (HuGE Navigator)
19536092 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19523210 Analysis of NBN sequence variations indicated that potential NBN alterations are present, albeit at a low frequency, in our cohort of high-risk breast cancer cases.
19523210 Observational study of gene-disease association. (HuGE Navigator)
19393249 Observational study of gene-disease association. (HuGE Navigator)
19393077 Meta-analysis of gene-disease association. (HuGE Navigator)
19383352 Gene transfer and protein analysis of cell culture breast cancer models with mutant MRE11 implicated various destabilization patterns among the MRE11-RAD50-NBS1 complex proteins
19338747 gamma-H2AX has important role for effective DNA double-strand breaks dependent activation of ATM-related damage responses via NBS1.
19338682 Observational study of gene-disease association. (HuGE Navigator)
19244322 Mre11-Rad50-Nbs1 complex is inactivated by either of the E4-induced mechanisms
19244116 the NBS1/ATR/BRCA1 repair machinery affects centrosome behavior, and this might be a crucial role in the prevention of malignances.
19197236 The Mre11/Rad50/Nbs1 (MRN) complex is recruited to viral centres only during infection with adenoviruses lacking the early region E4 and ATR signaling is activated.
19177012 PML, TopBP1, NBS1 or ATM-induced activation of phosphorylation of Chk2 participates in the DNA damage-elicited pro-apoptotic cascade that leads to the demise of Env-elicited syncytia
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19164952 PML, TopBP1, NBS1 or ATM-induced activation of phosphorylation of Chk2 participates in the DNA damage-elicited pro-apoptotic cascade that leads to the demise of Env-elicited syncytia
19151620 These results suggest that multiple TP53 mutations in glioblastomas are due to deficient repair of DNA double-strand breaks caused by mutational inactivation of the NBS1 gene.
19151620 Observational study of gene-disease association. (HuGE Navigator)
19126654 NBS1 downregulated cells show reduced activation of poly-(adenosine diphosphate-ribose)-polymerase-1 (PARP1) following genotoxic treatment with H(2)O(2) or methyl methanesulfonate, indicating impaired processing of damaged bases by BER.
19124506 Observational study of gene-disease association. (HuGE Navigator)
19116388 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19074885 Observational study of gene-disease association. (HuGE Navigator)
19064572 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19064565 Observational study of gene-disease association. (HuGE Navigator)
18950845 Observational study of gene-disease association. (HuGE Navigator)
18949738 the NBS1 gene polymorphism may have a role in cervix carcinoma in a northern Indian population
18949738 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18940477 Ovarian cancer patient with germline mutations in both BRCA1 and NBN genes.
18835245 These data establish a new function for the NBS1 protein as a regulator of PI3K activity via SFK members.
18830935 NBS1 might be a prognostic factor for patients with microsatellite-stable colorectal cancer in TNM stage I and II
18830263 Observational study of gene-disease association. (HuGE Navigator)
18829552 ATM, Mre11, and Rad50 are required for survival after replication fork stalling, whereas Nbs1 and H2AX are inconsequential.
18793719 NBN protein has a functional role in IGF-1 signaling for the promotion of cell proliferation via MAP Kinase Signaling System.
18768505 A significantly increased risk of renal cell carcinoma associated with the homozygous variant genotype of NBS1 (rs1805794) was observed.
18763866 ATM plays a fundamental role in promoting the radiation-induced interaction of NBS1 with SMC1 in the presence of BRCA1, leading to the maintenance of chromosomal integrity.
18723444 Accelerated DNA repair required both the NBS1 protein and Hdm2, accompanied by phosphorylation of Hdm2, dissociation of NBS-1 and Hdm2, inhibition of NBS-1 degradation, and accelerated phosphorylation of ATM.
18701435 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18691878 The TT genotype of c.2071-30A>T polymorphism was higher in leukaemia patients than in controls. results suggest that some specific haplotypes of the NBS1 gene may be associated with childhood leukaemia.
18691878 Observational study of gene-disease association. (HuGE Navigator)
18678890 MDC1 regulates intra-S-phase checkpoint by targeting NBS1 to DNA double-strand breaks
18676680 Observational study of gene-disease association. (HuGE Navigator)
18664457 Nbs1 has a function in ATR signalling in a manner distinct to any role at stalled replication forks. Replication-independent ATR signalling also requires the mediator proteins, 53BP1 and MDC1, providing direct evidence for their role in ATR signalling.
18644472 NBS1 regulates a novel p53 independent apoptotic pathway in response to DNA damage.
18638378 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18632984 Transcription-coupled DNA double-strand breaks are mediated via the nucleotide excision repair and the Mre11-Rad50-Nbs1 complex
18627000 Significant effects of NBS1 185Gln polymorphisms was seen on the initial repair of MMS-induced DNA damage in human lymphocytes.
18596698 These results suggest that Mre11-Rad50-Nbs1-dependent generation of ssDNA oligos, which constitute a unique signal of ongoing double-strand breaks repair not encountered in normal DNA metabolism, stimulates ATM activity.
18593981 Mutations in the Nijmegen breakage syndrome gene may have a role in development of medulloblastomas
18593981 Observational study of gene-disease association. (HuGE Navigator)
18583988 Data show that these CK2-targeted motifs in MDC1 are required to mediate NBS1 association with chromatin-flanking sites of unrepaired DNA double-strand breaks.
18582474 Structure-based single point mutations in Nbs1 were evaluated in vivo and revealed that BRCT2 is essential for an MDC1-dependent relocalization of Nbs1 to DNA damage sites.
18582154 alternative splicing of the NBS1 gene may be associated with the regulation of NBS1 in response to DNA double-strand breaks, DNA alkylation damage, and mitogenic response
18579371 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
18575580 Mre11-Rad50-NBS1 complex is thus unlikely to be the major nuclease involved in cleavage of the abasic sites during SHM, whereas NBS1 might have a specific role in regulating the strand-biased repair during phase Ib mutagenesis
18568448 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18562516 Differential requirements of the C terminus of NBN in suppressing adenovirus DNA replication and promoting concatemer formation are reported.
18469862 Snm1B interacts with the Mre11-Rad50-Nbs1 (MRN) complex and with FancD2 further substantiating its role as a checkpoint/DNA repair protein.
18411307 Ser-Asp-Thr repeats in the MDC1 N terminus recruit NBS1 and increase the local concentration of NBS1 at the sites of chromosomal breakage.
18394656 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18328813 Present data represent the first evidence for the role of NBS1 tandem BRCT domains in gamma-H2AX recognition, and could explain the severe phenotype observed in 657del5/R215W NBS patients.
18280732 Since DNA was isolated from non malignant cells, all mutations found in cancer patients appeared to be of germinal origin. It can be concluded that NBS1 allele I171V may be a general susceptibility gene in solid tumours.
18280732 Observational study of gene-disease association. (HuGE Navigator)
18270679 These results demonstrate that NBS1 can function as an adaptor/activator of p110alpha PI 3-kinase through a novel activation motif, consistent with its possible role in cell transformation and tumorigenesis.
18270339 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18234271 Results are consistent with a model in which physical interaction of Mre11 with viral DNA is mediated by Nbs1, and interferes with viral DNA replication.
18073374 Observational study of gene-disease association. (HuGE Navigator)
18073374 The NBN 657del5 mutation appears to be associated with an elevated risk of cancer in heterozygotes.
18056440 Novel NBS1 heterozygous germ line mutation causing MRE11-binding domain loss predisposes to common types of cancer
18049891 Missense mutation in NBS1 gene is associated with breast cancer.
18040525 NBS1 and MRE11 promote replication-associated recombination junctions essential for EBV episomal maintenance and genome stability
18025084 Rapid accumulation of MRE11 and NBS1 at sites of DNA damage requires PARP1.
18003706 NBS1 mediates ATR-dependent RPA hyperphosphorylation following replication fork stall and collapse.
17981542 loss of IFI16 activates p53 checkpoint through NBS1-DNA-PKcs pathway
17957789 Observational study of gene-disease association. (HuGE Navigator)
17957789 Sequence deletion and amino acid substitution in the NBN gene contributes to breast cancer susceptibility
17932350 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17932350 Hypothesis examined in a study of 559 breast cancer patients of single-nucleotide polymorphisms in Mre11, Rad50, and Nbs1 and by the in vivo detection of binding between Mre11 and BRCA1, encoded by the breast cancer susceptibility gene BRCA1.
17899368 heterozygous germline mutation I171V in NBS1 gene is a significant risk factor for breast cancer development
17899368 Observational study of gene-disease association. (HuGE Navigator)
17898048 Mre11/Rad50/Nbs1 complex (MRN) poses a barrier to adeno-associated virus and that the helper function provided by E1b55K/E4orf6 involves MRN degradation.
17894553 Observational study of gene-disease association. (HuGE Navigator)
17894553 Heterozygous carriers of the I171V mutation are prone to the development of larynx cancer and display an increased risk of second tumors at other sites.
17765870 Together, these results suggested that TopBP1 might be a mediator of DNA damage signaling from NBS1 to ATR and promote homologous recombination repair.
17715134 Studies suggest new roles of Mre11/Rad50/Nbs1 complex in the maintenance of genome stability through preventing rereplication and rereplication-associated double-stranded breaks when licensing control is compromised.
17700070 These data support a role for RPA as an initial signal/sensor for DNA damage that facilitates recruitment of MRE11/RAD50/NBS1 and ATM/ATR to sites of damage, where they then work together to fully activate the DNA damage response.
17695489 Observational study of gene-disease association. (HuGE Navigator)
17695489 NBS1 mutations do not contribute significantly to breast or ovarian cancer development.
17694070 lack of NBS1 inhibits TRF association with telomeres
17693401 the MRN (MRE11/RAD50/NBS1)complex, and especially NBS1, is required for alternative lengthening of telomeres
17685459 Observational study of gene-disease association. (HuGE Navigator)
17612497 Deacetylation of NBS1 by SIRT1 plays a key role in the dynamic regulation of the DNA damage response and in the maintenance of genomic stability.
17557904 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17544403 The S-phase checkpoint, regulated by the ATM-p95/NBS1-SMC1 pathway, was also triggered in hypoxia/reoxygenation-exposed lymphocytes.
17537595 The impaired apoptosis response to DNA damage in NBS1 deficient cells might be one of the important mechanisms of cancer predisposition in hereditary disease Nijmegen breakage syndrome patients.
17534377 microsatelite instability and alterations in the MRE11 and RAD50 repeats that are associated with the reduced protein expression and functional impairment of the MRE11-RAD50-NBS1 complex in Lynch syndrome
17526493 the Mre11-Rad50-Nbs1 complex plays critical roles both upstream and downstream of ATR to regulate the S-phase checkpoint when replication forks are stalled
17496786 Observational study of gene-disease association. (HuGE Navigator)
17496786 NBS1 does not play a major role in predisposition to melanoma in the Southern German population
17486112 Ordered chromatin structure changes that occur after DNA breakage depend on functional NBS1 and ATM, and facilitate DNA DSB repair.
17485521 T cell and oocyte development, as well as DNA damage-induced G2/M and S phase checkpoint arrest and radiation survival are dependent on the N-terminal forkhead-associated domain of Nbs1.
17476281 Observational study of gene-disease association. (HuGE Navigator)
17442057 NBS1 can regulate neuronal proliferation and neuroprotection
17431132 is phosphorylated by ATM, the product of the Nbs1, an ataxia-telangiectasia mutated gene and a member of the phosphatidylinositol 3-kinase-related family of serine-threonine kinasesin response to DNA double-strand breaks.
17384674 N- and C-terminal domains of NBS1 are the major regulatory domains for homologous recombination pathways.
17333333 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
17219051 These results demonstrate that NBS1 suppresses the CD95 death receptor-dependent apoptotic pathway after gamma-irradiation and evidence is given that this is achieved by regulation of the PI3-K/AKT survival pathway.
17169801 Observational study of gene-disease association. (HuGE Navigator)
17169801 MRE11, but not RAD50 or NBS1 variants, may play a role in non-Hodgkin's lymphoma
17078101 Observational study of gene-disease association. (HuGE Navigator)
17034901 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17034901 Our results show that the genetic variation in XRCC1, XRCC3 and NBS1 influence lung cancer susceptibility among women, and that combinations of risk alleles in the two HR genes can enhance the effects.
17030982 The response of promyelocytic leukemia nuclear bodies to DNA double-strand breaks is regulated by NBS1, ATM, Chk2, and ATR.
16998789 Observational study of gene-disease association. (HuGE Navigator)
16998789 6 additional carriers of the 657del5 mutation and 2 carriers of the pathogenic NBS1 R215W mutation were identified among 186 non-Hodgkin lymphoma patients from Central Poland.
16972754 data suggest that the sensitization to radiation results from NBS1-siRNA-mediated suppression of DNA repair and/ or X-ray-induced cell survival signaling pathways through NFKB and XIAP.
16936774 These results indicate that NBS1 overexpression induces EMT through the upregulation of Snail expression, and co-expression of NBS1/Snail predicts metastasis in HNSCCs.
16905549 Mre11 stabilizes Nbs1 and Rad50 and MRN activates Chk2 downstream from ATM in response to replication-mediated DNA double strand breaks
16877808 Observational study of genotype prevalence. (HuGE Navigator)
16788144 the Mre11-Rad50-Nbs1 complex stayed in the nucleus and remained intact in response to hypertonicity
16770759 Observational study of gene-disease association. (HuGE Navigator)
16752129 This review focuses on recent experimental evidences demonstrating how NBS1 is translocated into the nucleus by an importin KPNA2 which mediates NBS1 subcellular localization and the functions of the NBS1 complex in tumorigenesis.
16728435 Observational study of gene-disease association. (HuGE Navigator)
16714331 Observational study of gene-disease association. (HuGE Navigator)
16714331 NBS1 polymorphisms and haplotypes may contribute to the etiology of sporadic breast cancer in young non-Hispanic white women
16702373 Observational study of gene-disease association. (HuGE Navigator)
16638864 Observational study of gene-disease association. (HuGE Navigator)
16478990 nibrin plays an active role in Atm activation and that this function requires nibrin-Atm interaction.
16474176 Mutations in NBS1 is associated with breast cancer
16428493 overexpression of NBS1 is associated with head and neck squamous cell carcinoma
16415040 Hypomorphic mutations of the NBS1 gene are responsible for Nijmegen syndrome. The phenotype is due to alternate splicing.
16392640 Identifies four Turkish families in which probands were diagnosed as having NBS and found to be homozygous for the 657del5 mutation.
16343742 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16309973 NBS1 has a role in single strand annealing and non-homologous end-joining processes
16214912 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16195237 Observational study of gene-disease association. (HuGE Navigator)
16188882 an interaction with KPNA2 contributes to nuclear localization and multiple tumor suppression functions of the NBS1 complex
16163361 the dynamic architecture of human Rad50/Mre11/Nbs1 is markedly affected by DNA binding
16152606 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
16152606 frequency of the mutation in the NBS1 carriers was indeed increased in patients with acute lymphoblastic leukemia and non-Hodgkin lymphoma
16036916 overexpression of NBS1 is an oncogenic event that contributes to transformation through the activation of PI3-kinase/Akt
16033915 Homozygosity for the 643C>T(R215W) mutation will also lead to a, possibly very, severe disease phenotype and Nijmegen breakage syndrome.
16002061 Observational study of gene-disease association. (HuGE Navigator)
15980987 Observational study of gene-disease association. (HuGE Navigator)
15965469 Expression of the main human NBS allele in Nbs1-/- mice leads to immunodeficiency, cancer predisposition, a defect in meiotic progression in females, and cell-cycle checkpoint defects.
15937485 The MRE11-RAD50-NBS1 complex accelerates somaatic hypermutation and gene conversion of immunoglobulin variable regions.
15921821 NBS1 could be important in the pathogenesis of lung cancer
15914210 Observational study of gene-disease association. (HuGE Navigator)
15790808 findings show that the Mre11-Rad50-Nbs1 (MRN) complex acts as a double-strand break sensor for ATM and recruits ATM to broken DNA molecules
15758953 identification of related, conserved carboxy-terminal motifs in human Nbs1, ATRIP and Ku80 proteins that are required for their interaction with ATM, ATR and DNA-PKcs, respectively
15746160 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
15734743 Nbs1 is a novel p53-independent Mdm2 binding protein and links Mdm2 to the Mre11-Nbs1-Rad50-regulated DNA repair response
15733840 a novel pathway in which Nbs1 may recruit Werner syndrome protein to the site of DNA double strand breaks in an ATM-dependent manner
15653682 the Mre11/Rad50/Nbs1 (MRN) complex may play a more universal role in the recognition and response to DNA lesions of all types, whereas the role of RPA may be limited to certain subsets of lesions
15616588 Data suggest that Nijmegen breakage syndrome 1 (Nbs1) functions in both ATR- (ataxia-telangiectasia and Rad3-related protein) and ataxia telangiectasia mutated protein-dependent signalling.
15578693 Observational study of gene-disease association. (HuGE Navigator)
15578693 the NBS1 657del5 allele is not responsible for most breast cancer in Russia
15493328 NBS1 has at least two important roles in genome maintenance, as a DNA repair protein in HR pathway and as a signal modifier in intra-S phase checkpoints [review]
15279809 NBS1 has a role in development of the clinical manifestation of Nijmegen breakage syndrome [review]
15279770 NBS1 has a role in the functional role in the DNA damage response [review]
15234984 Nibrin, Mre11 and Rad50 also act as adaptors for some downstream Atm phosphorylation events
15201865 MDC1 couples DNA ds-break recognition by NBS1 with its H2AFX-dependent chromatin retention.
15185344 Observational study of gene-disease association. (HuGE Navigator)
15180989 Replication protein A, Mre11, Rad50 and Nbs1 bind and have roles in DNA repair
15064416 demonstrated that MRN (Mre11, Rad50, and Nbs1 proteins) stimulates the kinase activity of ATM in vitro toward its substrates p53, Chk2, and histone H2AX
15048089 Mre11-Rad50-Nbs1 complex serves also as a modulator/amplifier of ATM activity.
15026416 WRN associates with the Mre11 complex via binding to Nbs1 in vitro and in vivo
15024084 Results suggest that E2F1 plays a central role in signaling disturbances in the retinoblastoma growth control pathway and, by upregulation of Chk2 by Atm and Nbs1, may sensitize cells to undergo apoptosis.
15010895 Observational study of gene-disease association. (HuGE Navigator)
14988723 The transient slow-down of DNA synthesis was abolished in cells lacking ATR, whereas CHK1-siRNA-treated cells, NBS1 or Fanconi anemia cells showed partial S-phase arrest.
14973119 Observational study of gene-disease association. (HuGE Navigator)
14745549 ATM and NBS regulate several genes in common, both of these proteins also have distinct patterns of gene regulation.
14688016 Observational study of gene-disease association. (HuGE Navigator)
12972939 We have developed a novel molecular therapy that inhibits the MRN(95) complex in tumor cells. Disruption the MRN(95) complex and thus DNA repair should result in enhanced tumor killing after classic external-beam radiation therapy.
12955071 ATM-dependent phosphorylation of NBS1 is required for the suppression of TLK activity, indicating a role for NBS1 as an adaptor or scaffold in the ATM/TLK pathway.
12917199 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
12917199 The NBS1-185Gln variant is related with p53 gene mutations in lung cancer patients
12883362 The 657del5 mutation of exon 6 of NBS1 gene may be responsible for the occurrence of a small proportion of malignant melanoma patients, characterized by the occurrence of breast cancer among their relatives.
12861053 multiple functional domains of NBS1 are required for ATM-dependent activation of CHK2, nuclear focus formation, S phase checkpoint control, and cell survival after exposure to ionizing radiation
12845677 Observational study of gene-disease association. (HuGE Navigator)
12845677 Germline 657del5 mutation in the NBS1 gene is associated with breast cancer
12833396 Preliminary data suggest that NBS1 mutation carriers can be predisposed to malignant disorders.
12833146 nibrin1 is involved in a signaling pathway that induces ATF3 after ionizing radiation
12750284 Assembly of functional ALT-associated promyelocytic leukemia bodies requires Nijmegen Breakage Syndrome 1.
12679336 Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation
12660252 activation in response to replication-dependent DNA double-strand breaks induced by mammalian DNA topoisomerase I cleavage complexes
12637527 results indicate that Nijmegen breakage syndrome 1 gene (NBS1) is a direct transcriptional target of c-Myc and links the function of c-Myc to the regulation of DNA double-strand break repair pathway
12588868 NBS1 is required for phosphorylation of Chk1, indicating that NBS1 might facilitate the access of Chk1 to ATM at the sites of DNA damage.
12508248 Novel NBS1 mutations and protein variants identified in 20 cancer cell lines suggest the possible involvement of NBS1 in tumor developmental mechanisms.
12505263 Observational study of genotype prevalence. (HuGE Navigator)
12505263 Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers.
12485469 Alterations in this gene and changes in nibrin expression were found in ovarian carcinomas.
12447395 NBS1 and FANCD2 cooperate in two distinct cellular functions, one involved in the DNA crosslink response and one involved in the S-phase checkpoint response
12433983 Functional analysis of protein domains of NBS1 involved in chromatin association and DNA damage responses.
12353271 Observational study of gene-disease association. (HuGE Navigator)
12353271 Six common polymorphisms spanning the NBS1 gene have been genotyped and provide no evidence for loss of heterozygosity in the NHL population overall, suggesting that mutations in NBS1 are not involved in NHL development in the United States.
12124628 Adenovirus oncoproteins inactivate the Mre11-Rad50-NBS1 DNA repair complex
12082606 Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S arrest.
12036913 Observational study of gene-disease association. (HuGE Navigator)
12023982 Observational study of gene-disease association. (HuGE Navigator)
11809878 reconstitution of the mammalian DNA double-strand break end-joining reaction reveals a requirement for an Mre11/Rad50/NBS1-containing fraction

AA Sequence

MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKD      1 - 70
NSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTV     71 - 140
NNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNV    141 - 210
DLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQT    211 - 280
LIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDE    281 - 350
KLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNT    351 - 420
LAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLL    421 - 490
EQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIED    491 - 560
EVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDS    561 - 630
LWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLP    631 - 700
HIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR                    701 - 754
//

Text Mined References (379)

PMID Year Title
27568553 2016 MRNIP/C5orf45 Interacts with the MRN Complex and Contributes to the DNA Damage Response.
26869104 2016 VRK1 phosphorylates and protects NBS1 from ubiquitination and proteasomal degradation in response to DNA damage.
26616756 2016 Chromatin modification and NBS1: their relationship in DNA double-strand break repair.
26584681 2015 Clinicopathological values of NBS1 and DNA damage response genes in epithelial ovarian cancers.
26544571 2015 DNA Repair Cofactors ATMIN and NBS1 Are Required to Suppress T Cell Activation.
26514363 2016 Genetic variations in the homologous recombination repair pathway genes modify risk of glioma.
26493193 2015 DNA repair system and renal cell carcinoma prognosis: under the influence of NBS1.
26482424 2015 Distinct kinetics of DNA repair protein accumulation at DNA lesions and cell cycle-dependent formation of ?H2AX- and NBS1-positive repair foci.
26438602 2015 Acetylation of Histone H2AX at Lys 5 by the TIP60 Histone Acetyltransferase Complex Is Essential for the Dynamic Binding of NBS1 to Damaged Chromatin.
26402912 2015 Genetic Variation in the 3'-Untranslated Region of NBN Gene Is Associated with Gastric Cancer Risk in a Chinese Population.
26308066 2015 Functional Role of NBS1 in Radiation Damage Response and Translesion DNA Synthesis.
26186548 2015 Associations between NBS1 Polymorphisms and Colorectal Cancer in Chinese Population.
26068589 2016 The MRN complex is transcriptionally regulated by MYCN during neural cell proliferation to control replication stress.
25959252 2015 Nijmegen breakage syndrome protein 1 (NBS1) modulates hypoxia inducible factor-1? (HIF-1?) stability and promotes in vitro migration and invasion under ionizing radiation.
25903339 2015 Impact of the MRN Complex on Adeno-Associated Virus Integration and Replication during Coinfection with Herpes Simplex Virus 1.
25771871 2014 The functional polymorphism of NBS1 p.Glu185Gln is associated with an increased risk of lung cancer in Chinese populations: case-control and a meta-analysis.
25712764 2015 Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.
25576492 2015 Envisioning the dynamics and flexibility of Mre11-Rad50-Nbs1 complex to decipher its roles in DNA replication and repair.
25542228 2015 Genetic polymorphisms of DNA repair pathways influence the response to chemotherapy and overall survival of gastric cancer.
25512513 2014 Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.
25485873 2014 Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.
25415046 2014 NBN gain is predictive for adverse outcome following image-guided radiotherapy for localized prostate cancer.
25320294 2015 Insight into the mechanism of inhibition of adeno-associated virus by the Mre11/Rad50/Nbs1 complex.
25214013 2015 Nijmegen breakage syndrome fibroblasts expressing the C-terminal truncated NBN(p70) protein undergo p38/MK2-dependent premature senescence.
25213441 2014 ATP puts the brake on DNA double-strand break repair: a new study shows that ATP switches the Mre11-Rad50-Nbs1 repair factor between signaling and processing of DNA ends.
25176580 2014 NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia.
25088203 2015 BMI1 attenuates etoposide-induced G2/M checkpoints via reducing ATM activation.
25073514 2014 NBS1 Glu185Gln polymorphism and susceptibility to urinary system cancer: a meta-analysis.
25064736 2014 The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.
24894818 2014 Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
24850735 2014 Productive replication of human papillomavirus 31 requires DNA repair factor Nbs1.
24830725 2014 A rare polymorphic variant of NBS1 reduces DNA repair activity and elevates chromosomal instability.
24722796 2014 The impact of functional LIG4 polymorphism on platinum-based chemotherapy response and survival in non-small cell lung cancer.
24659671 p95-HER2 and trastuzumab resistance in metastatic breast cancer; is immunohistochemistry appropriate?
24651726 2014 ATRX dysfunction induces replication defects in primary mouse cells.
24614819 2014 Mutations in the FHA-domain of ectopically expressed NBS1 lead to radiosensitization and to no increase in somatic mutation rates via a partial suppression of homologous recombination.
24534091 2014 Rad17 recruits the MRE11-RAD50-NBS1 complex to regulate the cellular response to DNA double-strand breaks.
24510842 2014 The prognostic impact of high Nijmegen breakage syndrome (NBS1) gene expression in ERG-negative prostate cancers lacking PTEN deletion is driven by KPNA2 expression.
24349281 2013 Mutation inactivation of Nijmegen breakage syndrome gene (NBS1) in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24220101 2013 DNA-dependent protein kinase regulates DNA end resection in concert with Mre11-Rad50-Nbs1 (MRN) and ataxia telangiectasia-mutated (ATM).
24166361 2014 Tobacco smoking, NBS1 polymorphisms, and survival in lung and upper aerodigestive tract cancers with semi-Bayes adjustment for hazard ratio variation.
24141789 2014 FOXM1 targets NBS1 to regulate DNA damage-induced senescence and epirubicin resistance.
24113799 2013 Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies.
24072268 2013 Clinical characteristics of breast cancer in patients with an NBS1 mutation.
24054861 2013 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.
23979977 2014 NBS1 Glu185Gln polymorphism and cancer risk: update on current evidence.
23954013 2013 Influence of MRE11, RAD50 and NIBRIN protein expression on survival in pancreatic carcinoma after curative resection.
23918933 2013 Regulatory interaction between NBS1 and DNMT1 responding to DNA damage.
23765759 2013 Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk.
23762398 2013 Interaction between NBS1 and the mTOR/Rictor/SIN1 complex through specific domains.
23684611 2013 Two distinct modes of ATR activation orchestrated by Rad17 and Nbs1.
23525106 2013 Ataxia telangiectasia-mutated (ATM) kinase activity is regulated by ATP-driven conformational changes in the Mre11/Rad50/Nbs1 (MRN) complex.
23468639 2013 The interaction of CtIP and Nbs1 connects CDK and ATM to regulate HR-mediated double-strand break repair.
23458873 2013 Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.
23381647 2013 Association between the NBS1 Glu185Gln polymorphism and breast cancer risk: a meta-analysis.
23368512 2013 NBS1 directly activates ATR independently of MRE11 and TOPBP1.
23317186 2012 Current evidence on the relationship between two polymorphisms in the NBS1 gene and breast cancer risk: a meta-analysis.
23291854 2013 Regulation of the Nijmegen breakage syndrome 1 gene NBS1 by c-myc, p53 and coactivators mediates estrogen protection from DNA damage in breast cancer cells.
23283743 2013 NBS1 rs1805794G>C polymorphism is associated with decreased risk of acute myeloid leukemia in a Chinese population.
23275190 2013 Association between the NBS1 Glu185Gln polymorphism and lung cancer risk: a systemic review and meta-analysis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23149842 2013 An inherited NBN mutation is associated with poor prognosis prostate cancer.
23146902 2013 NBN phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaks.
23115235 2012 The RING finger protein RNF8 ubiquitinates Nbs1 to promote DNA double-strand break repair by homologous recombination.
22941933 2012 Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation.
22927831 2012 Chemical genetics reveals a specific requirement for Cdk2 activity in the DNA damage response and identifies Nbs1 as a Cdk2 substrate in human cells.
22864661 2012 Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.
22851427 2012 The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation.
22752646 2012 DNA repair polymorphisms influence the risk of second neoplasm after treatment of childhood acute lymphoblastic leukemia.
22740413 2012 Adenovirus regulates sumoylation of Mre11-Rad50-Nbs1 components through a paralog-specific mechanism.
22631660 2012 Genetic variants of NBS1 predict clinical outcome of platinum-based chemotherapy in advanced non-small cell lung cancer in Chinese.
22565321 2012 CDK targeting of NBS1 promotes DNA-end resection, replication restart and homologous recombination.
22491912 2012 Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women.
22464731 2012 Skp2 E3 ligase integrates ATM activation and homologous recombination repair by ubiquitinating NBS1.
22430443 2012 Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.
22413803 2012 DNA repair system and prostate cancer progression: the role of NBS1 polymorphism (rs1805794).
22161642 2012 NBS1 deficiency promotes genome instability by affecting DNA damage signaling pathway and impairing telomere integrity.
22157895 2011 Five dysfunctional telomeres predict onset of senescence in human cells.
22131123 2012 Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions.
22114071 2012 A functional polymorphism at microRNA-629-binding site in the 3'-untranslated region of NBS1 gene confers an increased risk of lung cancer in Southern and Eastern Chinese population.
22070649 2012 Genetic variation in the NBS1 gene is associated with hepatic cancer risk in a Chinese population.
21987080 2011 Haplotypes of DNA repair and cell cycle control genes, X-ray exposure, and risk of childhood acute lymphoblastic leukemia.
21889209 2011 Role of 657del5 NBN mutation and 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B) and 14q11.2 (CEBPE) variation and risk of childhood ALL in the Polish population.
21816818 2011 Human Mre11/human Rad50/Nbs1 and DNA ligase IIIalpha/XRCC1 protein complexes act together in an alternative nonhomologous end joining pathway.
21811815 2012 RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer.
21656575 2011 Functional NBS1 polymorphism is associated with occurrence and advanced disease status of nasopharyngeal carcinoma.
21472885 2012 Association of polymorphisms and haplotypes of the NBN gene with laryngeal cancer and multiple primary tumors of the head and neck.
21436738 2011 Is the NBN gene mutation I171V a potential risk factor for malignant solid tumors in children?
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21325134 2011 BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair.
21269460 2011 Initial characterization of the human central proteome.
21248752 2011 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
21215087 2010 [Study on the association between DNA double-strand break repair gene NBS1 polymorphisms and susceptibility on lung cancer].
21208456 2011 Induction of HSPA4 and HSPA14 by NBS1 overexpression contributes to NBS1-induced in vitro metastatic and transformation activity.
21166880 2011 Functional polymorphisms in the NBS1 gene and acute lymphoblastic leukemia susceptibility in a Chinese population.
21130714 2011 Requirement for NBS1 in the S phase checkpoint response to DNA methylation combined with PARP inhibition.
21108945 2011 Acetyltransferase p300 regulates NBS1-mediated DNA damage response.
20975951 2010 Ancient and recent adaptive evolution of primate non-homologous end joining genes.
20943970 2010 Physical interaction between the herpes simplex virus type 1 exonuclease, UL12, and the DNA double-strand break-sensing MRN complex.
20921278 2010 Dual functions of Nbs1 in the repair of DNA breaks and proliferation ensure proper V(D)J recombination and T-cell development.
20813000 2010 Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20731661 2010 Comprehensive analysis of DNA repair gene polymorphisms and survival in patients with early stage non-small-cell lung cancer.
20729302 2010 Nijmegen breakage syndrome protein (NBN) causes resistance to methylating anticancer drugs such as temozolomide.
20720310 2010 Association between single-nucleotide polymorphisms of selected genes involved in the response to DNA damage and risk of colon, head and neck, and breast cancers in a Polish population.
20682289 2010 Differential regulation of MRN (Mre11-Rad50-Nbs1) complex subunits and telomerase activity in cancer cells.
20644561 2011 A large-scale candidate gene approach identifies SNPs in SOD2 and IL13 as predictive markers of response to preoperative chemoradiation in rectal cancer.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20610542 2010 Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk.
20600238 2010 WRN participates in translesion synthesis pathway through interaction with NBS1.
20571895 2010 The NBS1 genetic polymorphisms and the risk of the systemic lupus erythematosus in Taiwanese patients.
20522537 2010 Variation within DNA repair pathway genes and risk of multiple sclerosis.
20496165 2011 Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
20478923 2010 Associations between NBS1 polymorphisms, haplotypes and smoking-related cancers.
20471956 2010 Phosphorylation of p300 by ATM controls the stability of NBS1.
20453309 2010 High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20232390 2011 Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia.
20224574 2010 A divalent FHA/BRCT-binding mechanism couples the MRE11-RAD50-NBS1 complex to damaged chromatin.
20175780 2010 Identification of increased NBS1 expression as a prognostic marker of squamous cell carcinoma of the oral cavity.
20150366 2010 DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma.
20143155 2010 NBS1 8360G > C polymorphism is associated with breast cancer risk: a meta-analysis.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20010693 2010 53BP1 promotes ATM activity through direct interactions with the MRN complex.
20004634 2010 Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51.
20003485 2009 DNA double strand break repair enzymes function at multiple steps in retroviral infection.
19950226 2010 Single nucleotide polymorphisms in miRNA binding sites and miRNA genes as breast/ovarian cancer risk modifiers in Jewish high-risk women.
19917125 2009 Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma.
19910469 2010 MRE11-RAD50-NBS1 complex dictates DNA repair independent of H2AX.
19908051 2010 Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.
19904603 2010 Some common mutations of RAD50 and NBS1 in western populations do not contribute significantly to Chinese non-BRCA1/2 hereditary breast cancer.
19862546 2010 MRN and the race to the break.
19804756 2009 A supramodular FHA/BRCT-repeat architecture mediates Nbs1 adaptor function in response to DNA damage.
19804755 2009 Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA double-strand break processing and repair.
19789190 2009 A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers.
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
19772428 2009 Association of polymorphisms in genes of the homologous recombination DNA repair pathway and thyroid cancer risk.
19759395 2009 N terminus of CtIP is critical for homologous recombination-mediated double-strand break repair.
19714462 2010 Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.
19706757 2009 Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19690177 2009 Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk.
19683501 2009 SOSS complexes participate in the maintenance of genomic stability.
19661089 2009 Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China.
19635536 2009 Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.
19629396 2010 The frequency of NBN molecular variants in pediatric astrocytic tumors.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19609304 2009 MRE11-RAD50-NBS1 is a critical regulator of FANCD2 stability and function during DNA double-strand break repair.
19597488 2009 Persistent DNA damage signalling triggers senescence-associated inflammatory cytokine secretion.
19597347 2009 DNA ligase I and Nbs1 proteins associate in a complex and colocalize at replication factories.
19586055 2009 Physical interaction between replication protein A (RPA) and MRN: involvement of RPA2 phosphorylation and the N-terminus of RPA1.
19584272 2009 Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.
19573080 2009 Common genetic variants in candidate genes and risk of familial lymphoid malignancies.
19536092 2009 Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
19523210 2009 Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19393249 2009 NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic.
19393077 2009 Association between the NBS1 E185Q polymorphism and cancer risk: a meta-analysis.
19383352 2008 Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.
19338747 2009 Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS1.
19338682 2009 High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients.
19244322 2009 Temporal regulation of the Mre11-Rad50-Nbs1 complex during adenovirus infection.
19244116 2009 Inactivation of the Nijmegen breakage syndrome gene leads to excess centrosome duplication via the ATR/BRCA1 pathway.
19197236 2009 Mislocalization of the MRN complex prevents ATR signaling during adenovirus infection.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19151620 2009 Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations.
19151086 2009 RAD50 and NBS1 form a stable complex functional in DNA binding and tethering.
19135898 2009 Purification of proteins associated with specific genomic Loci.
19126654 2009 The DNA repair protein NBS1 influences the base excision repair pathway.
19124506 2009 Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
19116388 2009 A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility.
19074885 2008 Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
19064572 2008 Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
19064565 2008 Common single-nucleotide polymorphisms in DNA double-strand break repair genes and breast cancer risk.
18950845 2009 Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
18949738 Effect of NBS1 gene polymorphism on the risk of cervix carcinoma in a northern Indian population.
18940477 2008 Ovarian cancer patient with germline mutations in both BRCA1 and NBN genes.
18835245 2008 Reduced expression of SRC family kinases decreases PI3K activity in NBS1-/- lymphoblasts.
18830935 2008 RAD50/MRE11/NBS1 proteins in relation to tumour development and prognosis in patients with microsatellite stable colorectal cancer.
18830263 2009 Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.
18829552 2008 ATM and the Mre11-Rad50-Nbs1 complex respond to nucleoside analogue-induced stalled replication forks and contribute to drug resistance.
18793719 2008 NBS1 is required for IGF-1 induced cellular proliferation through the Ras/Raf/MEK/ERK cascade.
18768505 2008 Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.
18763866 2008 NBS1 prevents chromatid-type aberrations through ATM-dependent interactions with SMC1.
18723444 2008 Statins use a novel Nijmegen breakage syndrome-1-dependent pathway to accelerate DNA repair in vascular smooth muscle cells.
18701435 2008 Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
18691878 2008 Polymorphisms and haplotypes of the NBS1 gene in childhood acute leukaemia.
18678890 2008 MDC1 regulates intra-S-phase checkpoint by targeting NBS1 to DNA double-strand breaks.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18664457 2008 Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.
18644472 2008 NBS1 regulates a novel apoptotic pathway through Bax activation.
18638378 2008 Analysis of variants in DNA damage signalling genes in bladder cancer.
18632984 2008 Transcription-coupled DNA double-strand breaks are mediated via the nucleotide excision repair and the Mre11-Rad50-Nbs1 complex.
18627000 2008 Influence of DNA repair gene polymorphisms on the initial repair of MMS-induced DNA damage in human lymphocytes as measured by the alkaline comet assay.
18596698 2008 Mre11-Rad50-Nbs1-dependent processing of DNA breaks generates oligonucleotides that stimulate ATM activity.
18593981 2008 Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.
18583988 2008 Phospho-dependent interactions between NBS1 and MDC1 mediate chromatin retention of the MRN complex at sites of DNA damage.
18582474 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.
18582154 2008 A potential link between alternative splicing of the NBS1 gene and DNA damage/environmental stress.
18579371 2008 Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
18575580 2008 A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation.
18568448 2008 Calbindin 1, fibroblast growth factor 20, and alpha-synuclein in sporadic Parkinson's disease.
18562516 2008 Differential requirements of the C terminus of Nbs1 in suppressing adenovirus DNA replication and promoting concatemer formation.
18469862 2008 Snm1B/Apollo mediates replication fork collapse and S Phase checkpoint activation in response to DNA interstrand cross-links.
18411307 2008 Phosphorylation of SDT repeats in the MDC1 N terminus triggers retention of NBS1 at the DNA damage-modified chromatin.
18394656 2008 Chromosomal aberrations in tire plant workers and interaction with polymorphisms of biotransformation and DNA repair genes.
18328813 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.
18280732 2008 Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours.
18270679 2008 Activation of phosphoinositide 3-kinase by the NBS1 DNA repair protein through a novel activation motif.
18270339 2008 Comprehensive analysis of DNA repair gene variants and risk of meningioma.
18234271 2008 Nbs1-dependent binding of Mre11 to adenovirus E4 mutant viral DNA is important for inhibiting DNA replication.
18073374 2007 Cancer risk of heterozygotes with the NBN founder mutation.
18056440 2007 Novel NBS1 heterozygous germ line mutation causing MRE11-binding domain loss predisposes to common types of cancer.
18049891 2008 NBS1 variant I171V and breast cancer risk.
18040525 2007 A role for MRE11, NBS1, and recombination junctions in replication and stable maintenance of EBV episomes.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
18025084 2008 PARP1-dependent kinetics of recruitment of MRE11 and NBS1 proteins to multiple DNA damage sites.
18003706 2007 NBS1 mediates ATR-dependent RPA hyperphosphorylation following replication-fork stall and collapse.
18001825 2007 RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly.
18001824 2007 RNF8 ubiquitylates histones at DNA double-strand breaks and promotes assembly of repair proteins.
17981542 2008 Loss of p53-regulatory protein IFI16 induces NBS1 leading to activation of p53-mediated checkpoint by phosphorylation of p53 SER37.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17957789 2008 Nijmegen Breakage Syndrome mutations and risk of breast cancer.
17932350 2007 Breast cancer risk is associated with the genes encoding the DNA double-strand break repair Mre11/Rad50/Nbs1 complex.
17899368 2008 I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer.
17898048 2007 The Mre11/Rad50/Nbs1 complex limits adeno-associated virus transduction and replication.
17894553 2007 Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene.
17823411 2007 Activation of Holliday junction recognizing protein involved in the chromosomal stability and immortality of cancer cells.
17765870 2007 TopBP1 associates with NBS1 and is involved in homologous recombination repair.
17715134 2007 The Mre11/Rad50/Nbs1 complex plays an important role in the prevention of DNA rereplication in mammalian cells.
17700070 2007 Replication protein A is required for etoposide-induced assembly of MRE11/RAD50/NBS1 complex repair foci.
17695489 Germline NBS1 mutations in families with aggregation of Breast and/or ovarian cancer from north-east Poland.
17694070 2007 MRE11-RAD50-NBS1 and ATM function as co-mediators of TRF1 in telomere length control.
17693401 2007 Disruption of telomere maintenance by depletion of the MRE11/RAD50/NBS1 complex in cells that use alternative lengthening of telomeres.
17685459 2007 Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations.
17612497 2007 SIRT1 regulates the function of the Nijmegen breakage syndrome protein.
17557904 2007 Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk.
17544403 2007 Reoxygenation following hypoxia activates DNA-damage checkpoint signaling pathways that suppress cell-cycle progression in cultured human lymphocytes.
17537595 2007 The effects of NBS1 knockdown by small interfering RNA on the ionizing radiation-induced apoptosis in human lymphoblastoid cells with different p53 status.
17534377 2007 The MRE11/RAD50/NBS1 complex destabilization in Lynch-syndrome patients.
17526493 2007 The Mre11-Rad50-Nbs1 complex acts both upstream and downstream of ataxia telangiectasia mutated and Rad3-related protein (ATR) to regulate the S-phase checkpoint following UV treatment.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17500065 2007 PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.
17496786 2007 Molecular genetic analysis of NBS1 in German melanoma patients.
17486112 2007 Roles of ATM and NBS1 in chromatin structure modulation and DNA double-strand break repair.
17485521 2007 Distinct domains in Nbs1 regulate irradiation-induced checkpoints and apoptosis.
17476281 2007 Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies.
17442057 2007 NBS1, the Nijmegen breakage syndrome gene product, regulates neuronal proliferation and differentiation.
17431132 2007 Enhanced phosphorylation of Nbs1, a member of DNA repair/checkpoint complex Mre11-RAD50-Nbs1, can be targeted to increase the efficacy of imatinib mesylate against BCR/ABL-positive leukemia cells.
17384674 2007 Homologous recombination repair is regulated by domains at the N- and C-terminus of NBS1 and is dissociated with ATM functions.
17333333 2008 BARD1 and breast cancer in Poland.
17219051 2007 Enhanced CD95-mediated apoptosis contributes to radiation hypersensitivity of NBS lymphoblasts.
17169801 2006 Haplotypic variation in MRE11, RAD50 and NBS1 and risk of non-Hodgkin's lymphoma.
17078101 2006 Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency.
17034901 2006 Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1, and the risk for lung cancer in never- and ever-smokers.
17030982 2006 Promyelocytic leukemia nuclear bodies behave as DNA damage sensors whose response to DNA double-strand breaks is regulated by NBS1 and the kinases ATM, Chk2, and ATR.
16998789 2006 Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation.
16972754 2006 siRNA targeting NBS1 or XIAP increases radiation sensitivity of human cancer cells independent of TP53 status.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16936774 2007 Overexpression of NBS1 induces epithelial-mesenchymal transition and co-expression of NBS1 and Snail predicts metastasis of head and neck cancer.
16905549 2006 Defective Mre11-dependent activation of Chk2 by ataxia telangiectasia mutated in colorectal carcinoma cells in response to replication-dependent DNA double strand breaks.
16877808 2006 Regional distribution of heterozygous 657del5 mutation carriers of the NBS1 gene in Wielkopolska province (Poland).
16788144 2006 Mre11-Rad50-Nbs1 complex is activated by hypertonicity.
16770759 2006 Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland.
16752129 2006 Importin KPNA2, NBS1, DNA repair and tumorigenesis.
16728435 2006 Polymorphisms in genes involved in DNA double-strand break repair pathway and susceptibility to benzene-induced hematotoxicity.
16714331 2006 Polymorphisms and haplotypes of the NBS1 gene are associated with risk of sporadic breast cancer in non-Hispanic white women <or=55 years.
16702373 2006 Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer.
16638864 2006 Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer.
16478990 2006 Active role for nibrin in the kinetics of atm activation.
16474176 2006 RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.
16467875 2006 The role of NBS1 in DNA double strand break repair, telomere stability, and cell cycle checkpoint control.
16428493 2006 Increased NBS1 expression is a marker of aggressive head and neck cancer and overexpression of NBS1 contributes to transformation.
16415040 2006 Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
16392640 2005 657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population.
16377563 2005 MDC1 directly binds phosphorylated histone H2AX to regulate cellular responses to DNA double-strand breaks.
16374507 2006 The involvement of the Mre11/Rad50/Nbs1 complex in the generation of G-overhangs at human telomeres.
16343742 2006 Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours.
16309973 2006 Impaired DNA double strand break repair in cells from Nijmegen breakage syndrome patients.
16214912 2005 Polymorphisms in DNA repair genes, medical exposure to ionizing radiation, and breast cancer risk.
16195237 2006 Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.
16188882 2005 Importin KPNA2 is required for proper nuclear localization and multiple functions of NBS1.
16163361 2005 Mesoscale conformational changes in the DNA-repair complex Rad50/Mre11/Nbs1 upon binding DNA.
16152606 2006 Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies.
16036916 2005 Overexpression of NBS1 contributes to transformation through the activation of phosphatidylinositol 3-kinase/Akt.
16033915 2006 Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.
16002061 2005 Single nucleotide polymorphisms for DNA repair genes in breast cancer patients.
15980987 2005 Breast cancer predisposing alleles in Poland.
15965469 2005 Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models.
15937485 2005 The MRE11-RAD50-NBS1 complex accelerates somatic hypermutation and gene conversion of immunoglobulin variable regions.
15921821 2005 Smoky coal exposure, NBS1 polymorphisms, p53 protein accumulation, and lung cancer risk in Xuan Wei, China.
15916964 2005 ATM-dependent phosphorylation of ATF2 is required for the DNA damage response.
15914210 2005 Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.
15790808 2005 ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex.
15758953 2005 Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage.
15746160 2005 Constitutional short telomeres are strong genetic susceptibility markers for bladder cancer.
15734743 2005 Mdm2 binds to Nbs1 at sites of DNA damage and regulates double strand break repair.
15733840 2005 Werner syndrome protein associates with gamma H2AX in a manner that depends upon Nbs1.
15653682 2005 DNA lesion-specific co-localization of the Mre11/Rad50/Nbs1 (MRN) complex and replication protein A (RPA) to repair foci.
15616588 2005 Nbs1 is required for ATR-dependent phosphorylation events.
15578693 2005 NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia.
15493328 2004 Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15338273 2004 First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15279809 Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.
15279770 NBS1 and its functional role in the DNA damage response.
15234984 2004 Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm.
15201865 2004 Mdc1 couples DNA double-strand break recognition by Nbs1 with its H2AX-dependent chromatin retention.
15185344 2004 Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland.
15180989 2004 Replication protein A and the Mre11.Rad50.Nbs1 complex co-localize and interact at sites of stalled replication forks.
15064416 2004 Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex.
15048089 2004 Distinct functional domains of Nbs1 modulate the timing and magnitude of ATM activation after low doses of ionizing radiation.
15026416 2004 Linkage between Werner syndrome protein and the Mre11 complex via Nbs1.
15024084 2004 Apoptosis associated with deregulated E2F activity is dependent on E2F1 and Atm/Nbs1/Chk2.
15010895 2004 Single nucleotide polymorphisms in breast cancer.
14988723 2004 The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways.
14973119 2004 NBS1 is a prostate cancer susceptibility gene.
14745549 2004 Analysis of ataxia-telangiectasia mutated (ATM)- and Nijmegen breakage syndrome (NBS)-regulated gene expression patterns.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14688016 2004 Polymorphisms in DNA repair and metabolic genes in bladder cancer.
14684699 2003 Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.
12972939 2003 Molecular disruption of the MRN(95) complex induces radiation sensitivity in head and neck cancer.
12955071 2003 Suppression of Tousled-like kinase activity after DNA damage or replication block requires ATM, NBS1 and Chk1.
12917199 2003 Screening of homologous recombination gene polymorphisms in lung cancer patients reveals an association of the NBS1-185Gln variant and p53 gene mutations.
12883362 2003 Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin.
12861053 2003 Distinct functions of Nijmegen breakage syndrome in ataxia telangiectasia mutated-dependent responses to DNA damage.
12845677 2003 Germline 657del5 mutation in the NBS1 gene in breast cancer patients.
12833396 2003 657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.
12833146 2003 Induction of ATF3 by ionizing radiation is mediated via a signaling pathway that includes ATM, Nibrin1, stress-induced MAPkinases and ATF-2.
12750284 2003 Assembly of functional ALT-associated promyelocytic leukemia bodies requires Nijmegen Breakage Syndrome 1.
12679336 2003 Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation.
12660252 2003 Phosphorylation of histone H2AX and activation of Mre11, Rad50, and Nbs1 in response to replication-dependent DNA double-strand breaks induced by mammalian DNA topoisomerase I cleavage complexes.
12637527 2003 c-Myc directly regulates the transcription of the NBS1 gene involved in DNA double-strand break repair.
12607005 2003 MDC1 is a mediator of the mammalian DNA damage checkpoint.
12588868 2003 Ataxia-telangiectasia-mutated (ATM) and NBS1-dependent phosphorylation of Chk1 on Ser-317 in response to ionizing radiation.
12529385 2003 Critical role for mouse Hus1 in an S-phase DNA damage cell cycle checkpoint.
12508248 2003 New mutations and protein variants of NBS1 are identified in cancer cell lines.
12505263 2002 Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers.
12485469 2002 Nijmegen breakage syndrome gene (NBS1) alterations and its protein (nibrin) expression in human ovarian tumours.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12470659 2002 Recruitment of NBS1 into PML oncogenic domains via interaction with SP100 protein.
12447395 2002 Interaction of FANCD2 and NBS1 in the DNA damage response.
12447371 2003 The mismatch repair system is required for S-phase checkpoint activation.
12433983 2002 Functional analysis of FHA and BRCT domains of NBS1 in chromatin association and DNA damage responses.
12419185 2002 NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.
12353271 2002 Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma.
12124628 2002 Adenovirus oncoproteins inactivate the Mre11-Rad50-NBS1 DNA repair complex.
12036913 2002 Effect of germ-line genetic variation on breast cancer survival in a population-based study.
12023982 2002 Variants in DNA double-strand break repair genes and breast cancer susceptibility.
11877377 2002 SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint.
11809878 2002 Reconstitution of the mammalian DNA double-strand break end-joining reaction reveals a requirement for an Mre11/Rad50/NBS1-containing fraction.
11486038 2001 Mre11 complex and DNA replication: linkage to E2F and sites of DNA synthesis.
11448772 2001 Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit.
11438675 2001 Chk2 activation dependence on Nbs1 after DNA damage.
11325820 2001 Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).
11238951 2001 Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization.
11110662 2000 Response to RAG-mediated VDJ cleavage by NBS1 and gamma-H2AX.
10913111 2000 NBS1 and TRF1 colocalize at promyelocytic leukemia bodies during late S/G2 phases in immortalized telomerase-negative cells. Implication of NBS1 in alternative lengthening of telomeres.
10888888 2000 Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres.
10839545 2000 ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response.
10839544 2000 Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products.
10811102 2000 Nijmegen breakage syndrome disease protein and MRE11 at PML nuclear bodies and meiotic telomeres.
10802669 2000 ATM-dependent phosphorylation of nibrin in response to radiation exposure.
10783165 2000 BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.
10766245 2000 ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway.
10426999 1999 Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response.
9933573 1999 Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1.
9705271 1998 Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95.
9620777 1998 Positional cloning of the gene for Nijmegen breakage syndrome.
9590181 1998 The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response.
9590180 1998 Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
9199571 1997 Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24.
9042920 1997 The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.