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although Mre11 (show MRE11A Proteins) is required for efficient HR-dependent repair of ionizing-radiation-induced DSBs, Mre11 (show MRE11A Proteins) is largely dispensable for DSB resection in both chicken DT40 and human TK6 B cell lines.
a somatic missense mutation c.1061C>T (p.P354L) in the NBN gene in a patient with CCS (show CCS Proteins) lacking an EWSR1 (show EWSR1 Proteins)-ATF1 (show AFT1 Proteins) fusion.
The high expression of MRE11 (show MRE11A Proteins)-RAD50 (show RAD50 Proteins)-NBS1 complex constituents could be a predictor for poor prognosis and chemoresistance in gastric cancer
The overall frequency of c.657del5 in unselected pancreatic ductal adenocarcinoma (PDAC) patients (5/241; 2.07%) significantly differed from that in non-cancer controls (2/915; 0.2%; P=0.006). The result indicates that the NBN c.657del5 variant represents a novel PDAC-susceptibility allele increasing PDAC risk (OR=9.7; 95% CI: 1.9 to 50.2).
mitochondria response to low-dose radiation in radiosensitive human ataxia telangiectasia mutated (ATM (show ATM Proteins))- and Nijmegen breakage syndrome (NBS)1-deficient cell lines, was investigated.
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]
The MRN complex is essential to restrain MYCN (show MYCN Proteins)-induced replication stress during neural cell proliferation.
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 (show TP53BP1 Proteins)-positive NBs, is cell cycle dependent in HeLa cells
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 (show MRE11A Proteins) rs10831234, and ATM (show ATM Proteins) rs227062.
NBS1 expression exhibited an association with epithelial ovarian cancers recurrence.
findings show that NBS1 is crucial for macrophage function during normal aging
TRIP13 (show TRIP13 Proteins)-deficient spermatocytes also progress to an H1t (show HIST1H1T Proteins)-positive stage if ATM (show ATM Proteins) activity is attenuated by hypomorphic mutations in Mre11 (show MRE11A Proteins) or Nbs1 or by elimination of the ATM (show ATM Proteins)-effector kinase CHK2 (show CHEK2 Proteins)
In the absence of wild type nibrin, the repair of spontaneous errors, presumably arising during DNA replication, makes a major contribution to the basal mutation rate.
Nbs1 mutants initially accumulate replication intermediate, not DSBs.
This report showed that ATM (show ATM Proteins)-Chk2 (show CHEK2 Proteins)-P53 (show TP53 Proteins) signaling pathway and the AKT (show AKT1 Proteins)/mTOR (show FRAP1 Proteins) signaling pathway are responsible for the enhanced apoptosis of the Nbn-deficient mature oligodendrocytes.
JNK (show MAPK8 Proteins) signaling and ATR signaling are likely to converge to regulate the cerebellar apoptosis of newborn Nbn-deficient mice.
Nbn and Atm (show ATM Proteins) collaborate to prevent DSB accumulation and apoptosis during development in a tissue- and developmental stage-specific manner.
the antagonism and redundancy of ATMIN (show ATMIN Proteins) and NBS1 constitute a crucial regulatory mechanism for ATM (show ATM Proteins) signaling and function.
Nbs1-deficient neocortex shows accumulative endogenous DNA damage and defective activation of Ataxia telangiectasia and Rad3-related (ATR)-Chk1 pathway upon DNA damage.
NBS1 haploinsufficiency results in increased mammary tumor latency and metastasis.
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation.
, Nijmegen breakage syndrome 1 (nibrin)
, cell cycle regulatory protein p95
, p95 protein of the MRE11/RAD50 complex
, nijmegen breakage syndrome protein 1 homolog