• 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)
  • The large and diverse population of antibody paratope is generated by random recombination events of a set of gene segments that encode different antigen-binding sites (or paratopes), followed by random mutations in this area of the antibody gene, which create further diversity. (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)
  • Cancer cells are constantly using a variety of tools, involving genes, proteins and altered pathways, to ensure their survival against antineoplastic drugs. (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)
  • 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)
  • genome
  • These states include the genetic sequence (ancestral sequence reconstruction), the amino acid sequence of a protein, the composition of a genome (e.g., gene order), a measurable characteristic of an organism (phenotype), and the geographic range of an ancestral population or species (ancestral range reconstruction). (wikipedia.org)
  • Since cancer is a genetic disease, two genomic events underlie acquired drug resistance: Genome alterations (e.g. gene amplification and deletion) and epigenetic modifications. (wikipedia.org)
  • Chromosomal rearrangement due to genome instability can cause gene amplification and deletion. (wikipedia.org)
  • Chromoplexy: a new category of complex rearrangements in the cancer genome. (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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Gene deletion is the opposite of gene amplification, where a region of a chromosome is lost an drug resistance occurs by losing tumor suppressor genes such as TP53. (wikipedia.org)
  • The human CCNDI gene is located on the long arm of chromosome 11 (band 11q13). (wikipedia.org)
  • 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)
  • 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)
  • locus
  • The γ locus consists of three functional Jγ-Cγ genes and up to seven Vγ genes, with four of the Vγ genes clustered together upstream of Jγ1 - Cγ1 ( Fig. 1 B ) ( 2 - 4 ). (rupress.org)
  • leukemia
  • Gardner JA, Bao L, Ornstein DL (2016) TSpontaneous Splenic Rupture in Acute Myeloid Leukemia with Mixed-Lineage Leukemia Gene Rearrangement. (omicsonline.org)
  • Rearrangement of the mixed lineage-leukemia gene (MLL-r) is common in hematological diseases and is generally associated. (economywatch.info)
  • 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)
  • The hybrid gene product ABL/BCR is an oncogene which could lead several types of leukemia including BAL. (wikipedia.org)
  • Most of biphenotypic leukemia in children is due to the rearrangement of MLL Besides them, other gene abnormalities has been reported. (wikipedia.org)
  • antigen
  • 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)
  • occurs
  • This rearrangement occurs early in the differentiation process and creates novel T-cell receptors that mimic the structure of normal antibodies but are not able to function properly. (wikipedia.org)
  • transcription factors
  • A proposed model is that DNA is brought together in nuclear transcription hubs where genes across multiple chromosomes are co-regulated by transcription factors such as the Androgen receptor. (wikipedia.org)
  • Cyclin D1-CDK4 inhibits pRb through phosphorylation, allowing E2F transcription factors to transcribe genes required for entry into the S phase. (wikipedia.org)
  • nuclear
  • It also may explain how DNA from multiple chromosomes may be involved in a single complex rearrangement due to the nuclear co-localization of genes from multiple chromosomes at transcription hubs. (wikipedia.org)
  • genetic
  • These gene segments are then joined together using random genetic recombination to produce the paratope. (wikipedia.org)
  • There also exists virulence plasmids that contain the genetic elements necessary for bacteria to become pathogenic as well as degradative plasmids that harbor the genes that allow bacteria to degrade a variety of substances such as aromatic compounds and xenobiotics. (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)
  • recombination
  • Our gene targeting studies show that the downstream Vγ genes rearrange preferentially in the early fetal thymus because of their downstream location, independent of promoter or recombination signal sequences and unrelated to the extent of germline transcription. (rupress.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)
  • mechanism
  • These data provide a mechanism for specialization of the fetal thymus for the production of T cells expressing specific Vγ genes. (rupress.org)
  • a catch-all term for events that generate complex structural chromosomal abnormalities The mechanism underlying complex rearrangements in chromoplexy has not been identified. (wikipedia.org)
  • cells
  • These rearrangements are associated with the development of a large repertoire of diverse B-cells, allowing them to protect against many different kinds of infections. (labtestsonline.org)
  • Within any normal population (sample) of B cells, the cells and their gene rearrangement profiles are very diverse. (labtestsonline.org)
  • The Vγ3 and Vγ4 genes, located downstream in the TCRγ Cγ1 gene cluster, are expressed by the earliest waves of developing TCRγδ + T cells in the fetal thymus, destined for intraepithelial locations. (rupress.org)
  • Upstream Vγ2 and Vγ5 genes are expressed in later waves in the adult and constitute most TCRγδ + T cells in secondary lymphoid tissue. (rupress.org)
  • variable
  • The regions where the genes are randomly recombined together is the hyper variable region used to recognise different antigens on a clonal basis. (wikipedia.org)