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  • Mutations
  • Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. (jax.org)
  • Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. (origene.com.cn)
  • Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. (origene.com.cn)
  • Our data suggest that ER binding is associated with localized accumulation of somatic mutations, some of which affect chromatin architecture, distal gene expression, and cellular phenotypes in ER-positive breast cancer. (biomedcentral.com)
  • Although inactivation of NIMA using either the nimA1 or nimA5 temperature-sensitive mutations blocked cells in G2, NIMX CDC2 /NIME Cyclin B localization was predominantly cytoplasmic rather than nuclear. (rupress.org)
  • tumor cells
  • While the cytokine expression is regulated primarily by NF-kB, the tumor cell-derived cytokines further stimulate NF-kB-mediated transcription of proinflammatory genes in tumor cells, tumor-associated stromal cells and host tissues, thereby creating a sustained chronic inflammatory state within the tumor microenvironment. (oatext.com)
  • The abundance of HRAD9B RNA, as judged by quantitative reverse transcription-PCR, is very low in most testicular tumors, particularly those of germ cell origin, i.e. , seminomas, relative to normal testis control, nonseminomas, or Leydig tumor cells. (aacrjournals.org)
  • clamp
  • In terms of cell cycle checkpoint control, several groups have suggested that HRAD9-HHUS1-HRAD1 form a proliferating cell nuclear antigen-like heterotrimer clamp, sometimes referred to as the 9-1-1 complex (4) , that is recruited onto damaged DNA via a clamp loader function of HRAD17. (aacrjournals.org)
  • functions
  • Although there are Drosophila orthologs for both ATM and ATR, the DNA damage-dependent checkpoint functions reside primarily in the latter, which is encoded by the mei-41 gene. (genetics.org)
  • Most studies of ATM and ATR have focused on the checkpoint functions of these kinases. (genetics.org)
  • HRAD9 also functions as a cell death mediator. (aacrjournals.org)
  • These findings suggested that HHUS1 and HHUS1B have related but not identical functions in cell cycle checkpoint control and perhaps other as of yet undefined cellular processes. (aacrjournals.org)
  • The implication of hMre11/hRad50/p95 protein complex in NBS reveals a direct molecular link between DSB repair and cell cycle checkpoint functions. (nih.gov)
  • Our understanding of the important functions of p38 MAPK in the process of differentiation and cell death has grown considerably in the recent years and is now relatively established. (ijbs.com)
  • Clusters of tissue-prevalent and tissue-specific genes and genes that are differentially expressed in different tissues were identified, and they reflect well major tissue-specific functions on the molecular level. (beds.ac.uk)
  • Importantly, this approach may provide clues for elucidating the functions of genes underlying specific processes and identifying candidate genes predicted to regulate traits of interest. (beds.ac.uk)
  • chromatin
  • Notably, the highly mutated estrogen receptor binding sites are associated with more frequent chromatin loop contacts and the associated distal genes are expressed at higher level. (biomedcentral.com)
  • Using a CRISPR base editor, we show that the recurrent C→T conversion at the ZNF143 locus results in decreased TF binding, increased chromatin loop formation, and increased expression of multiple distal genes. (biomedcentral.com)
  • This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. (nih.gov)
  • tightly regulated
  • Acute inflammation is a rapid and self-limiting process: chemical mediators are induced in a tightly regulated sequence, and immune cells move in and out of the affected area, destroying infectious agents, repairing damaged tissue, and initiating a specific and long-term response to the pathogen. (oatext.com)
  • These events are tightly regulated and certain checkpoints must be passed in order for the cell cycle to be completed. (antibodies-online.com)
  • repair
  • Such a complex life-cycle presumably requires sophisticated global and local regulators, involving refined checkpoint and DNA repair mechanisms [ 3 ], yet these are currently only poorly understood. (springer.com)
  • We have isolated the gene encoding p95, a member of the hMre11/hRad50 double-strand break repair complex. (nih.gov)
  • Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. (nih.gov)