• chromosome
  • Usually, patients with deletion of chromosome 13q14 as a single alteration have a better outcome, although a high number of losses in 13q14 or large deletions including RB1 gene could be associated with a worse outcome [ 10 ]. (hindawi.com)
  • If this first attempt fails to generate a productive (inframe) heavy chain protein coding sequence, a second V to DJ rearrangement can occur on the other chromosome. (springer.com)
  • This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines the NUT midline carcinoma. (wikipedia.org)
  • Gene amplification is the increase in copy number of a region of a chromosome. (wikipedia.org)
  • Hamster cell research in 1993 showed that amplifications in the DHFR gene involved in DNA synthesis began with chromosome break in below the gene, and subsequent cycles of bridge-breakage-fusion formations result in large intrachromosomal repeats. (wikipedia.org)
  • The human CCNDI gene is located on the long arm of chromosome 11 (band 11q13). (wikipedia.org)
  • proteins
  • Generation of junctional diversity starts as the proteins, recombination activating gene-1 and -2 (RAG1 and RAG2), along with DNA repair proteins, such as Artemis, are responsible for single-stranded cleavage of the hairpin loops and addition of a series of palindromic, 'P' nucleotides. (wikipedia.org)
  • Expression of the proteins encoded by these tyrosine kinase fusion genes can, in most cases, be shown to function independently as oncogenic drivers, capable of activating critical downstream pathways involved in the malignant phenotype, resulting in transformation of cells in vitro. (wikipedia.org)
  • Entrectinib is a selective tyrosine kinase inhibitor with specificity, at low nanomolar concentrations, for all of three Trk proteins (encoded by the NTRK1, 2, and 3 genes, respectively) as well as the ROS1, and ALK receptor tyrosine kinases. (wikipedia.org)
  • Cancer cells are constantly using a variety of tools, involving genes, proteins and altered pathways, to ensure their survival against antineoplastic drugs. (wikipedia.org)
  • The adenine-thymine rich hairpin loops of the Borrelia bacteria range in size from 5 kilobase pairs (kb) to over 200 kb and contain the genes responsible for producing a group of major surface proteins, or antigens, on the bacteria that allow it to evade the immune response of its infected host. (wikipedia.org)
  • mutations
  • If a person's tumor is negative for the most common ALK gene rearrangements, tests for other less common mutations not detected by the current test or tests for the altered ALK protein may be used to help predict therapeutic responses. (labcorp.com)
  • The process of tumorigenesis frequently involves protein kinase activation events, which can result from either mutations, or chromosomal rearrangements. (wikipedia.org)
  • Mutations in the gene lead to hyperuricemia: Some men have partial (up to 20% less activity of the enzyme) HGPRT deficiency that causes high levels of uric acid in the blood, which leads to the development of gouty arthritis and the formation of uric acid stones in the urinary tract. (wikipedia.org)
  • A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder and sphingolipidosis that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. (wikipedia.org)
  • Several oncogenic mutations in prostate cancer occur through chromoplexy, such as disruption of the tumor suppressor gene PTEN or creation of the TMPRSS2-ERG fusion gene. (wikipedia.org)
  • Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. (wikipedia.org)
  • fusions
  • The expression of such gene fusions in a tumor can create a phenomenon termed 'oncogene addiction' in which the tumor becomes dependent on signaling by the aberrant kinase pathway, thus rendering its survival and continued proliferation exquisitely sensitive to targeted inhibition with small molecule tyrosine kinase inhibitor drugs. (wikipedia.org)
  • The preliminary results seen with entrectinib in the phase I studies of patients with NTRK/ROS1/ALK fusions have led to the initiation of an open-label, multicenter, global, phase II basket study to examine the use of entrectinib in patients having tumors with these gene rearrangements. (wikipedia.org)
  • In prostate cancers containing ETS+gene fusions (such as TMPRSS2-ERG), chromoplexy breakpoints are generally clustered within actively transcribed DNA and open chromatin. (wikipedia.org)
  • Fusion
  • Translocations resulting in gene fusion are characteristic of endometrial stromal tumors (ESTs). (semanticscholar.org)
  • Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma. (semanticscholar.org)
  • Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms. (semanticscholar.org)
  • JAZF1/JJAZ1 gene fusion in endometrial stromal sarcomas: molecular analysis by reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded tissue. (semanticscholar.org)
  • Gene rearrangements, leading to the expression of constitutively activated fusion tyrosine kinase receptors, have been increasingly identified as a common feature of malignancies over the last three decades, and success has been demonstrated using these rearrangements as targets for drug development. (wikipedia.org)
  • However, "deletion bridges" may be seen in chromoplexy that represent lost DNA at the fusion junctions of rearrangements. (wikipedia.org)
  • protein encoded by this gene
  • The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. (wikipedia.org)
  • cancers
  • ALK gene rearrangements are most often seen in light smokers or non-smokers with adenocarcinoma non-small cell lung cancers, especially women of Asian descent. (labcorp.com)
  • Amplification of the CCND1 gene is present in: non-small cell lung cancers (30-46%) head and neck squamous cell carcinomas (30-50%) pancreatic carcinomas (25%) bladder cancer (15%) pituitary adenomas (49-54%) breast carcinoma (13%) Cyclin D1 overexpression is strongly correlated to ER+ breast cancer and deregulation of cyclin D1 is associated with hormone therapy resistance in breast cancer. (wikipedia.org)
  • Regulation
  • However, the rearrangement of several lambda variable subgenes can activate expression of an overlapping miRNA gene, which has consequences for gene expression regulation. (wikipedia.org)
  • Epigenetic modifications in antineoplastic drug resistance play a major role in cancer development and drug resistance as they contribute to the regulation of gene expression. (wikipedia.org)
  • In cancer cells, where normal regulation of gene expression breaks down, the oncogenes are activated via hypomethylation and tumor suppressors are silenced via hypermethylation. (wikipedia.org)
  • occur
  • Fertility plasmids, or f plasmids, allow for conjugation to occur whereas resistance plasmids, or r plasmids, contain genes that convey resistance to a variety of different antibiotics such as ampicillin and tetracycline. (wikipedia.org)
  • encodes
  • Plasmid DNA vaccines are genetically engineered to contain a gene which encodes for an antigen or a protein produced by a pathogenic virus, bacterium or other parasite. (wikipedia.org)
  • The CCND1 gene encodes the cyclin D1 protein. (wikipedia.org)
  • detect
  • A semi-automated PCR method involving fluorescent-labeled PCR products and non-denaturing capillary electrophoresis is performed to detect only complete TCRB rearrangements. (mdanderson.org)
  • oncogene
  • The hybrid gene product ABL/BCR is an oncogene which could lead several types of leukemia including BAL. (wikipedia.org)
  • segments
  • Much of this diversity is caused by a great potential variability in CDR3 sequences in the TCR δ chain, but there is also diversity in the number of V, J, and (in the case of δ) D gene segments. (rupress.org)
  • At the adult stage, repression of the downstream Vγ4 and Vγ3 genes through elements associated with the promoter segments overrides the downstream advantage resulting in preferential rearrangement of the upstream Vγ2 and Vγ5 gene segments. (rupress.org)
  • Junctional diversity describes the DNA sequence variations introduced by the improper joining of gene segments during the process of V(D)J recombination. (wikipedia.org)
  • citation needed] Junctional diversity includes the process of somatic recombination or V(D)J recombination, during which the different variable gene segments (those segments involved in antigen recognition) of TCRs and immunoglobulins are rearranged and unused segments removed. (wikipedia.org)
  • detection
  • We analyzed the frequency and characteristics of Vk-Jk and Vlambda-Jlambda rearrangements inpatients with precursor-B-acute lymphoblastic leukemia (ALL) and evaluated the applicability of these rearrangements as targets for minimal residual disease (MRD) detection. (haematologica.org)
  • humans
  • U.S. researchers have used a new gene editing technique to trim away potentially harmful virus genes that have impeded the use of pig organs for transplants in humans. (economywatch.info)
  • Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme encoded in humans by the HPRT1 gene. (wikipedia.org)
  • Bromodomain-containing protein 4 is a protein that in humans is encoded by the BRD4 gene. (wikipedia.org)
  • Cyclin-D1 is a protein that in humans is encoded by the CCND1 gene. (wikipedia.org)