| http://purl.uniprot.org/citations/11889050 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11889050 | http://www.w3.org/2000/01/rdf-schema#comment | "Nijmegen breakage syndrome (NBS) is an autosomal recessive hereditary disease that shares some common defects with ataxia-telangiectasia. The gene product mutated in NBS, named NBS1, is a component of the Mre11 complex that is involved in DNA strand-break repair. To elucidate the physiological roles of NBS1, we disrupted the N-terminal exons of the NBS1 gene in mice. NBS1(m/m) mice are viable, growth retarded and hypersensitive to ionizing radiation (IR). NBS1(m/m) mice exhibit multiple lymphoid developmental defects, and rapidly develop thymic lymphoma. In addition, female NBS1(m/m) mice are sterile due to oogenesis failure. NBS1(m/m) cells are impaired in cellular responses to IR and defective in cellular proliferation. Most systematic and cellular defects identified in NBS1(m/m) mice recapitulate those in NBS patients, and are essentially identical to those observed in Atm(-/-) mice. In contrast to Atm(-/-) mice, spermatogenesis is normal in NBS1(m/m) mice, indicating that distinct roles of ATM have differential requirement for NBS1 activity. Thus, NBS1 and ATM have overlapping and distinct functions in animal development and DNA repair."xsd:string |
| http://purl.uniprot.org/citations/11889050 | http://purl.org/dc/terms/identifier | "doi:10.1093/emboj/21.6.1447"xsd:string |
| http://purl.uniprot.org/citations/11889050 | http://purl.uniprot.org/core/author | "Kang J."xsd:string |
| http://purl.uniprot.org/citations/11889050 | http://purl.uniprot.org/core/author | "Xu Y."xsd:string |
| http://purl.uniprot.org/citations/11889050 | http://purl.uniprot.org/core/author | "Bronson R.T."xsd:string |
| http://purl.uniprot.org/citations/11889050 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11889050 | http://purl.uniprot.org/core/name | "EMBO J"xsd:string |
| http://purl.uniprot.org/citations/11889050 | http://purl.uniprot.org/core/pages | "1447-1455"xsd:string |
| http://purl.uniprot.org/citations/11889050 | http://purl.uniprot.org/core/title | "Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair."xsd:string |
| http://purl.uniprot.org/citations/11889050 | http://purl.uniprot.org/core/volume | "21"xsd:string |
| http://purl.uniprot.org/citations/11889050 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11889050 |
| http://purl.uniprot.org/citations/11889050 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11889050 |
| http://purl.uniprot.org/uniprot/#_A2AMG5-mappedCitation-11889050 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11889050 |
| http://purl.uniprot.org/uniprot/#_Q9R207-mappedCitation-11889050 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11889050 |
| http://purl.uniprot.org/uniprot/Q9R207 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/11889050 |
| http://purl.uniprot.org/uniprot/A2AMG5 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/11889050 |