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To our knowledge, this is the first report of NBN gene mutation in an individual with lung cancer in the Arab world
Low NBS1 expression is associated with low-grade epithelial ovarian cancer.
although recruitment of the MRE11 (zeige MRE11A Proteine)-RAD50 (zeige RAD50 Proteine)-NBS1 (MRN) DSB-sensing complex to viral genomes and activation of the ATM (zeige ATM Proteine) kinase can promote KSHV replication, proteins involved in nonhomologous end joining (NHEJ) repair restrict amplification of viral DNA.
Data suggest HSP90AA1-dependent regulation of ATM-NBN-CHK2 and ATR-CHK1 axes influences cells capability to repair double-stranded DNA damage; mechanisms include phosphorylation, polyubiquitination, and proteasomal degradation/proteolysis. (HSP90AA1 = heat shock protein 90kDa alpha; ATM = ataxia telangiectasia mutated protein; NBN = nibrin; CHK = checkpoint kinase; ATR = ataxia telangiectasia and Rad3 related kinase)
Mre11 (zeige MRE11A Proteine)-Rad50 (zeige RAD50 Proteine)-Nbs1 complex initiates DNA double strand break repair.
Phosphorylation status of NBS1 determines how dysfunctional telomeres are repaired.
The results illuminate the important role of Nbs1 and CtIP (zeige RBBP8 Proteine) in determining the substrates and consequences of human Mre11 (zeige MRE11A Proteine)/Rad50 (zeige RAD50 Proteine) nuclease (zeige DCLRE1C Proteine) activities on protein-DNA lesions.
The Nbs1 homologs that promote herpes simplex virus 1 infection also interact with the herpes simplex virus 1 ICP0 protein.
The CC genotype of NBS1 Glu185Gln may increase lung cancer risk only for males and smokers and may serve as a practical marker for early detective and predictive purposes of lung cancer
surmise that the higher fertility of female c.657del5 carriers reflects a lower miscarriage rate in these women, thereby reflecting the role of the NBN gene product, nibrin, in the repair of DNA double strand breaks and their processing in immune gene rearrangements, telomere maintenance, and meiotic recombination
Loss of Nbn expression is associated with premature hair loss.
the essential role of Nbs1 is via its interaction with Mre11 (zeige MRE11A Proteine) and that most of the Nbs1 protein is dispensable for Mre11 (zeige MRE11A Proteine) complex functions and suggest that Mre11 (zeige MRE11A Proteine) and Rad50 (zeige RAD50 Proteine) directly activate ATM (zeige ATM Proteine).
Low NBS1 expression is associated with B-cell lymphomas.
findings show that NBS1 is crucial for macrophage function during normal aging
TRIP13 (zeige TRIP13 Proteine)-deficient spermatocytes also progress to an H1t (zeige HIST1H1T Proteine)-positive stage if ATM (zeige ATM Proteine) activity is attenuated by hypomorphic mutations in Mre11 (zeige MRE11A Proteine) or Nbs1 or by elimination of the ATM (zeige ATM Proteine)-effector kinase CHK2 (zeige CHEK2 Proteine)
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 (zeige ATM Proteine)-Chk2 (zeige CHEK2 Proteine)-P53 (zeige TP53 Proteine) signaling pathway and the AKT (zeige AKT1 Proteine)/mTOR (zeige FRAP1 Proteine) signaling pathway are responsible for the enhanced apoptosis of the Nbn-deficient mature oligodendrocytes.
JNK (zeige MAPK8 Proteine) signaling and ATR signaling are likely to converge to regulate the cerebellar apoptosis of newborn Nbn-deficient mice.
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