Type |
Details |
Score |
Publication |
First Author: |
Rocha PP |
Year: |
2016 |
Journal: |
Cell Rep |
Title: |
A Damage-Independent Role for 53BP1 that Impacts Break Order and Igh Architecture during Class Switch Recombination. |
Volume: |
16 |
Issue: |
1 |
Pages: |
48-55 |
|
•
•
•
•
•
|
Publication |
First Author: |
Stracker TH |
Year: |
2008 |
Journal: |
Mol Cell |
Title: |
Chk2 suppresses the oncogenic potential of DNA replication-associated DNA damage. |
Volume: |
31 |
Issue: |
1 |
Pages: |
21-32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen Y |
Year: |
2021 |
Journal: |
Cell Prolif |
Title: |
Nbs1-mediated DNA damage repair pathway regulates haematopoietic stem cell development and embryonic haematopoiesis. |
Volume: |
54 |
Issue: |
3 |
Pages: |
e12972 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dar AA |
Year: |
2021 |
Journal: |
PLoS Biol |
Title: |
The E3 ubiquitin ligase Cul4b promotes CD4+ T cell expansion by aiding the repair of damaged DNA. |
Volume: |
19 |
Issue: |
2 |
Pages: |
e3001041 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ramiro AR |
Year: |
2006 |
Journal: |
Nature |
Title: |
Role of genomic instability and p53 in AID-induced c-myc-Igh translocations. |
Volume: |
440 |
Issue: |
7080 |
Pages: |
105-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Douglas KR |
Year: |
2000 |
Journal: |
Genomics |
Title: |
Partial transcriptome of the developing pituitary gland. |
Volume: |
70 |
Issue: |
3 |
Pages: |
335-46 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang B |
Year: |
2012 |
Journal: |
Cell Biosci |
Title: |
BRCA1 tumor suppressor network: focusing on its tail. |
Volume: |
2 |
Issue: |
1 |
Pages: |
6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Katyal S |
Year: |
2014 |
Journal: |
Nat Neurosci |
Title: |
Aberrant topoisomerase-1 DNA lesions are pathogenic in neurodegenerative genome instability syndromes. |
Volume: |
17 |
Issue: |
6 |
Pages: |
813-21 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lee Y |
Year: |
2012 |
Journal: |
Nat Neurosci |
Title: |
Neurogenesis requires TopBP1 to prevent catastrophic replicative DNA damage in early progenitors. |
Volume: |
15 |
Issue: |
6 |
Pages: |
819-26 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lee Y |
Year: |
2012 |
Journal: |
EMBO J |
Title: |
ATR maintains select progenitors during nervous system development. |
Volume: |
31 |
Issue: |
5 |
Pages: |
1177-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sutherland HG |
Year: |
2001 |
Journal: |
Hum Mol Genet |
Title: |
Large-scale identification of mammalian proteins localized to nuclear sub-compartments. |
Volume: |
10 |
Issue: |
18 |
Pages: |
1995-2011 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li R |
Year: |
2012 |
Journal: |
Cell Res |
Title: |
A distinct response to endogenous DNA damage in the development of Nbs1-deficient cortical neurons. |
Volume: |
22 |
Issue: |
5 |
Pages: |
859-72 |
|
•
•
•
•
•
|
Publication |
First Author: |
The RIKEN BioResource Center |
Year: |
2006 |
Journal: |
Unpublished |
Title: |
Information obtained from The RIKEN BioResource Center |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom |
Year: |
2023 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen J |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. |
Volume: |
100 |
Issue: |
17 |
Pages: |
9918-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Friedel RH |
Year: |
2007 |
Journal: |
Brief Funct Genomic Proteomic |
Title: |
EUCOMM--the European conditional mouse mutagenesis program. |
Volume: |
6 |
Issue: |
3 |
Pages: |
180-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gray PA |
Year: |
2004 |
Journal: |
Science |
Title: |
Mouse brain organization revealed through direct genome-scale TF expression analysis. |
Volume: |
306 |
Issue: |
5705 |
Pages: |
2255-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GUDMAP Consortium |
Year: |
2004 |
Journal: |
www.gudmap.org |
Title: |
GUDMAP: the GenitoUrinary Development Molecular Anatomy Project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Allele |
Name: |
nibrin; targeted mutation 1, John H J Petrini |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
nibrin; targeted mutation 1.1, Martin Digweed |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
nibrin; targeted mutation 1, Yang Xu |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
nibrin; targeted mutation 1, Zhao-Qi Wang |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nbn/Nbn |
Background: |
involves: 129S2/SvPas * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nbn/Nbn<+> |
Background: |
involves: 129S2/SvPas * C57BL/6 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nbn/Nbn Tg(Mx1-cre)1Cgn/? |
Background: |
involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * CBA |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nbn/Nbn |
Background: |
involves: 129/Sv * 129P2/OlaHsd |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nbn/Nbn Tg(CD19-cre/ERT2)1Cgn/? |
Background: |
Not Specified |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nbn/Nbn |
Background: |
Not Specified |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nbn/Nbn |
Background: |
involves: 129S7/SvEvBrd |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Nibrin (also known as Nbs1 or p95) plays an important role in the DNA damage response (DDR) and DNA repair. It is part of the nuclear MRN complex, which consists of Mre11, Rad50, and Nbs1, and is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis [, , , , , ]. Mutations in the NBN gene coding for nibrin cause the Nijmegen Breakage Syndrome (NBS), a rare autosomal recessive disorder characterised by genomic instability and increased risk of haematopoietic malignancies [, ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Chrzanowska KH |
Year: |
2012 |
Journal: |
Orphanet J Rare Dis |
Title: |
Nijmegen breakage syndrome (NBS). |
Volume: |
7 |
|
Pages: |
13 |
|
•
•
•
•
•
|
Publication |
First Author: |
Alster O |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
The role of nibrin in doxorubicin-induced apoptosis and cell senescence in Nijmegen Breakage Syndrome patients lymphocytes. |
Volume: |
9 |
Issue: |
8 |
Pages: |
e104964 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tauchi H |
Year: |
2002 |
Journal: |
Nature |
Title: |
Nbs1 is essential for DNA repair by homologous recombination in higher vertebrate cells. |
Volume: |
420 |
Issue: |
6911 |
Pages: |
93-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhu XD |
Year: |
2000 |
Journal: |
Nat Genet |
Title: |
Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. |
Volume: |
25 |
Issue: |
3 |
Pages: |
347-52 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yuan J |
Year: |
2009 |
Journal: |
J Biol Chem |
Title: |
N terminus of CtIP is critical for homologous recombination-mediated double-strand break repair. |
Volume: |
284 |
Issue: |
46 |
Pages: |
31746-52 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ranganathan V |
Year: |
2001 |
Journal: |
Curr Biol |
Title: |
Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit. |
Volume: |
11 |
Issue: |
12 |
Pages: |
962-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Carney JP |
Year: |
1998 |
Journal: |
Cell |
Title: |
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. |
Volume: |
93 |
Issue: |
3 |
Pages: |
477-86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ciapponi L |
Year: |
2004 |
Journal: |
Curr Biol |
Title: |
The Drosophila Mre11/Rad50 complex is required to prevent both telomeric fusion and chromosome breakage. |
Volume: |
14 |
Issue: |
15 |
Pages: |
1360-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gorski MM |
Year: |
2004 |
Journal: |
DNA Repair (Amst) |
Title: |
Disruption of Drosophila Rad50 causes pupal lethality, the accumulation of DNA double-strand breaks and the induction of apoptosis in third instar larvae. |
Volume: |
3 |
Issue: |
6 |
Pages: |
603-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Trujillo KM |
Year: |
1998 |
Journal: |
J Biol Chem |
Title: |
Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. |
Volume: |
273 |
Issue: |
34 |
Pages: |
21447-50 |
|
•
•
•
•
•
|
Publication |
First Author: |
Trujillo KM |
Year: |
2001 |
Journal: |
J Biol Chem |
Title: |
DNA structure-specific nuclease activities in the Saccharomyces cerevisiae Rad50*Mre11 complex. |
Volume: |
276 |
Issue: |
38 |
Pages: |
35458-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ghosal G |
Year: |
2007 |
Journal: |
J Mol Biol |
Title: |
The characterization of Saccharomyces cerevisiae Mre11/Rad50/Xrs2 complex reveals that Rad50 negatively regulates Mre11 endonucleolytic but not the exonucleolytic activity. |
Volume: |
372 |
Issue: |
4 |
Pages: |
864-82 |
|
•
•
•
•
•
|
Publication |
First Author: |
Waltes R |
Year: |
2009 |
Journal: |
Am J Hum Genet |
Title: |
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. |
Volume: |
84 |
Issue: |
5 |
Pages: |
605-16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Berardinelli F |
Year: |
2014 |
Journal: |
Int J Radiat Biol |
Title: |
Radiation-induced telomere length variations in normal and in Nijmegen Breakage Syndrome cells. |
Volume: |
90 |
Issue: |
1 |
Pages: |
45-52 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yin Y |
Year: |
2013 |
Journal: |
Mol Cell Biol |
Title: |
Impaired resection of meiotic double-strand breaks channels repair to nonhomologous end joining in Caenorhabditis elegans. |
Volume: |
33 |
Issue: |
14 |
Pages: |
2732-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Murk W |
Year: |
2011 |
Journal: |
Hum Hered |
Title: |
Attempted replication of 50 reported asthma risk genes identifies a SNP in RAD50 as associated with childhood atopic asthma. |
Volume: |
71 |
Issue: |
2 |
Pages: |
97-105 |
|
•
•
•
•
•
|
Publication |
First Author: |
You Z |
Year: |
2005 |
Journal: |
Mol Cell Biol |
Title: |
ATM activation and its recruitment to damaged DNA require binding to the C terminus of Nbs1. |
Volume: |
25 |
Issue: |
13 |
Pages: |
5363-79 |
|
•
•
•
•
•
|
Publication |
First Author: |
Waterworth WM |
Year: |
2007 |
Journal: |
Plant J |
Title: |
NBS1 is involved in DNA repair and plays a synergistic role with ATM in mediating meiotic homologous recombination in plants. |
Volume: |
52 |
Issue: |
1 |
Pages: |
41-52 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ueno M |
Year: |
2003 |
Journal: |
Mol Cell Biol |
Title: |
Molecular characterization of the Schizosaccharomyces pombe nbs1+ gene involved in DNA repair and telomere maintenance. |
Volume: |
23 |
Issue: |
18 |
Pages: |
6553-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chahwan C |
Year: |
2003 |
Journal: |
Mol Cell Biol |
Title: |
The fission yeast Rad32 (Mre11)-Rad50-Nbs1 complex is required for the S-phase DNA damage checkpoint. |
Volume: |
23 |
Issue: |
18 |
Pages: |
6564-73 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Nibrin (also known as Nbs1 or p95) plays an important role in the DNA damage response (DDR) and DNA repair. It is part of the nuclear MRN complex, which consists of Mre11, Rad50, and Nbs1, and is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis [, , , , , ]. Mutations in the NBN gene coding for nibrin cause the Nijmegen Breakage Syndrome (NBS), a rare autosomal recessive disorder characterised by genomic instability and increased risk of haematopoietic malignancies [, ]. NBS1 homologues from plants are also involved in DNA repair and recombination []. In S. pombe, Nbs1 is required for DNA damage repair and S-phase DNA damage checkpoint [, ]. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
RAD50 is involved in DNA double-strand break repair (DSBR), telomere maintenance and meiotic recombination [, , ]. The RAD50/MRE11 complex possesses single-strand endonuclease activity and ATP-dependent double-strand-specific exonuclease activity [, ]. RAD50 provides ATP-dependent control of Mre11 by unwinding and/or repositioning DNA ends into the MRE11 active site [, , ]. This entry represents the eukaryotic Rad50 that is distantly related to the SbcC family of bacterial proteins.In Saccharomyces cerevisiae, Rad50 forms the MRX complex with Mre11 and Xrs2. In humans, RAD50 forms the MRN complex with MRE11 and NBN (also known as NBS1). Mutations in the RAD50 gene cause the Nijmegen breakage syndrome-like disorder (NBSLD) []. The genetic variations in the RAD50 gene have been linked to susceptibility to asthma []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This is the C-terminal region of Nibrin (also known as DNA damage repair protein Nbs1) that has been identified to be necessary for the binding of Mre11 and Tel1 []. Nibrin (also known as Nbs1 or p95) plays an important role in the DNA damage response (DDR) and DNA repair. It is part of the nuclear MRN complex, which consists of Mre11, Rad50, and Nbs1, and is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis [, , , , , ]. Mutations in the NBN gene coding for nibrin cause the Nijmegen Breakage Syndrome (NBS), a rare autosomal recessive disorder characterised by genomic instability and increased risk of haematopoietic malignancies [, ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Krenzlin H |
Year: |
2012 |
Journal: |
PLoS Genet |
Title: |
DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress. |
Volume: |
8 |
Issue: |
3 |
Pages: |
e1002557 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
751
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
261
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
486
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
551
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
548
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1312
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
657
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1312
|
Fragment?: |
false |
|
•
•
•
•
•
|