Nijmegen Breakage Syndrome (NBS) is a rare inherited condition, characterized by microcephaly, chromosomal instability, immunodeficiency, and predisposition to malignancy. This retrospective study, characterizing the clinical and immunological status of patients with NBS at time of diagnosis, was designed to...
Nijmegen breakage syndrome is a disease characterized by immunodeficiency, genomic instability, and cancer susceptibility. The gene product defective in Ni... DB Lombard,L Guarente - 《Cancer Research》 被引量: 314发表: 2000年 The Nijmegen Breakage Syndrome Protein Is Essential for Mre11 Phosphorylati...
Introduction: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, which belongs to the DNA repair disorders. It is characterized by microcephaly, typical facial appearance, immunodeficiency, X‐ray hypersensitivity and predisposition of cancer. Material and methods: Neuropathological ...
简单介绍:Mutations in NBN 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 ...
蛋白别名为:NBN; NBS; NBS1; P95; Nibrin; Cell cycle regulatory protein p95; Nijmegen breakage syndrome protein 1;基因ID为:4683;蛋白质ID:O60934【应用类型】:WB,ELISA 补充:最优的抗体稀释比例需要基于客户实验进行优化.建议的起始稀释比例如下: WB: 1:500-1:2000, ELISA: 1:5000. Not yet tested ...
Nijmegen breakage syndrome (NBS) is a rare human disease displaying chromosome instability, radiosensitivity, cancer predisposition, immunodeficiency, and ... V Ranganathan,WF Heine,DN Ciccone,... - 《Current Biology》 被引量: 273发表: 2001年 Differing responses of Nijmegen breakage syndrome and atax...
The histopathologic investigation of children with congenital immunodeficiency, and its relation to functional parameters and clinical data have been a maj... J Huber,BJM Zegers,HJ Schuurman - 《Seminars in Diagnostic Pathology》 被引量: 16发表: 1992年 Bloom's syndrome. IV. Sister-chromatid exchang...
简单介绍:Mutations in NBN 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 compl...
It was also recently reported that another DNA damage response protein, Nijmegen breakage syndrome protein 1 (NBS1) recruits ATM to the site of post-integration repair (=-=Smith et al., 2008-=-). Another important DNA damage response pathway protein, ATR (ATM and Rad related), has also ...
Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NBN gene, is part of the MRE11/RAD50 (MRN) complex that is involved in the repair of DN...