Nijmegen Breakage Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We examined the recruitment of PARP-1 to chromatin in response to radiomimetic agents and the effects of PARP-1 inhibition on DSB repair and recruitment of the meiotic recombination (MRE)-11-double-strand break repair (RAD50) protein-Nijmegen breakage syndrome (NSB)-1 (MRN) complex to the chromatin in Ku70-deficient breast cancer cells.
|
29874127 |
2018 |
Nijmegen Breakage Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
ALT is a mechanism based on homologous recombination (HR) between telomere sister chromatids, and a number of proteins involved in the HR pathway, such as MRN [MRE11 (meiotic recombination 11)-Rad50-NBS1 (Nijmegen breakage syndrome 1)] complex are required for the ALT pathway.
|
22595804 |
2012 |
Nijmegen Breakage Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have previously shown that mutations in the genes encoding DNA Ligase IV (LIGIV) and RAD50, involved in DNA repair by nonhomologous-end joining (NHEJ) and homologous recombination, respectively, lead to clinical and cellular features similar to those of Nijmegen Breakage Syndrome (NBS).
|
20597108 |
2010 |
Nijmegen Breakage Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA double-strand breaks (DSBs) trigger accumulation of the MRE11-RAD50-Nijmegen breakage syndrome 1 (NBS1 [MRN]) complex, whose retention on the DSB-flanking chromatin facilitates survival.
|
18411307 |
2008 |
Nijmegen Breakage Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These data reveal for the first time a role for the Rad50 complex in V(D)J recombination, and demonstrate that the protein product of the disease-causing allele responsible for Nijmegen breakage syndrome encodes a protein with residual DNA double-strand break repair activity.
|
17524422 |
2007 |
Nijmegen Breakage Syndrome
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
These data reveal for the first time a role for the Rad50 complex in V(D)J recombination, and demonstrate that the protein product of the disease-causing allele responsible for Nijmegen breakage syndrome encodes a protein with residual DNA double-strand break repair activity.
|
17524422 |
2007 |
Nijmegen Breakage Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Mre11-NLS protein complexed with Rad50, localized to the nucleus in NBS fibroblasts, and associated with chromatin.
|
16478990 |
2006 |
Nijmegen Breakage Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The gene involved in NBS, NBS1, is part of the MRE11/RAD50/NBS1 (MRN) complex that also includes MRE11 and RAD50, which is involved in DNA repair and cell cycle regulation in response to DNA damage.
|
14707289 |
2003 |
Nijmegen Breakage Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
NBS is complexed with MRE11 and RAD50 in a DNA repair complex [3-5] and is localized to telomere ends in association with TRF proteins [6, 7].
|
11448772 |
2001 |
Nijmegen Breakage Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The NBS1 protein is specifically mutated in patients with Nijmegen breakage syndrome and forms a complex with the DNA repair proteins Rad50 and Mrel1.
|
10839544 |
2000 |
Nijmegen Breakage Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The implication of hMre11/hRad50/p95 protein complex in NBS reveals a direct molecular link between DSB repair and cell cycle checkpoint functions.
|
9590181 |
1998 |