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a somatic missense mutation c.1061C>T (p.P354L) in the NBN gene in a patient with CCS (show CCS ELISA Kits) lacking an EWSR1 (show EWSR1 ELISA Kits)-ATF1 (show AFT1 ELISA Kits) fusion.
The high expression of MRE11 (show MRE11A ELISA Kits)-RAD50 (show RAD50 ELISA Kits)-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 ELISA Kits))- 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 ELISA Kits)-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 ELISA Kits)-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 ELISA Kits) rs10831234, and ATM (show ATM ELISA Kits) rs227062.
NBS1 expression exhibited an association with epithelial ovarian cancers recurrence.
NBS1 E185Q allele carriers in renal cell carcinoma male patients had a lower 5-year survival rate.
findings show that NBS1 is crucial for macrophage function during normal aging
TRIP13 (show TRIP13 ELISA Kits)-deficient spermatocytes also progress to an H1t (show HIST1H1T ELISA Kits)-positive stage if ATM (show ATM ELISA Kits) activity is attenuated by hypomorphic mutations in Mre11 (show MRE11A ELISA Kits) or Nbs1 or by elimination of the ATM (show ATM ELISA Kits)-effector kinase CHK2 (show CHEK2 ELISA Kits)
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 ELISA Kits)-Chk2 (show CHEK2 ELISA Kits)-P53 (show TP53 ELISA Kits) signaling pathway and the AKT (show AKT1 ELISA Kits)/mTOR (show FRAP1 ELISA Kits) signaling pathway are responsible for the enhanced apoptosis of the Nbn-deficient mature oligodendrocytes.
JNK (show MAPK8 ELISA Kits) signaling and ATR (show ATR ELISA Kits) signaling are likely to converge to regulate the cerebellar apoptosis of newborn Nbn-deficient mice.
Nbn and Atm (show ATM ELISA Kits) collaborate to prevent DSB accumulation and apoptosis during development in a tissue- and developmental stage-specific manner.
the antagonism and redundancy of ATMIN and NBS1 constitute a crucial regulatory mechanism for ATM (show ATM ELISA Kits) 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