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NBS1 expression exhibited an association with epithelial ovarian cancers recurrence.
NBS1 E185Q allele carriers in renal cell carcinoma (show MOK Proteins) male patients had a lower 5-year survival rate.
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 (show BRCA2 Proteins) mutations.
VRK1 (show VRK1 Proteins) regulation of NBS1 contributes to the stability of the repair complex and permits the sequential steps in DNA damage response.
genetic variants at NBN gene may contribute to gastric cancer susceptibility.
findings reveal a novel model for an intestinal bowel disease phenotype that occurs upon combined loss of the DNA repair cofactors ATMIN (show ATMIN Proteins) and NBS1
the rs2735383C/G polymorphism of NBS1 might contribute to the risk for colorectal cancer.
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.
NBS1 has multifunctional roles in response to DNA damage from a variety of genotoxic agents, including IR
Co-expression of HIF-1a (show HIF1A Proteins) and NBS1 in primary tumors of patients with lung adenocarcinoma correlates with a worse prognosis
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