• exon
  • Two were already thought to contribute to tumor progression: an internal tandem duplication of the FLT3 receptor tyrosine kinase gene, which activates kinase signaling and is associated with a poor prognosis and a four base insertion in exon 12 of the NPM1 gene (NPMc). (wikipedia.org)
  • The workflow system currently provides components for several types of analysis such as sequencing, gene expression, SNP, ChIP-on-chip, comparative genomic hybridization and exon microarray analysis as well as cytometry and cell imaging analysis. (wikipedia.org)
  • This mutation resulted in the disregard of exon 18 on the EHMT1 gene, as opposed to removing it through the spliceosomes. (wikipedia.org)
  • In another transcript, however, an intron was placed between exon 18 and 19 of the EHMT1 gene. (wikipedia.org)
  • genomics
  • ConclusionThis study presents combined genomics and bioinformatics approaches for identifying potential metastasis suppressor genes. (duhnnae.com)
  • Identifying Targets of Human microRNAs with the LightSwitch Luciferase Assay System using 3'UTR-reporter Constructs and a microRNA Mimic in Adherent Cells Shelley Force Aldred 1 , Patrick Collins 1 , Nathan Trinklein 1 1 SwitchGear Genomics MicroRNAs (miRNAs) are important regulators of gene expression and have been shown to play a role in numerous biological processes. (jove.com)
  • Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes. (wikipedia.org)
  • metastasis
  • While the mechanisms underlying antimetastatic activity of some phytochemicals are being delineated, the impact of diet, dietary components, and various phytochemicals on metastasis suppressor genes is underexplored. (springer.com)
  • The review addresses this area of research as well as the current state of knowledge regarding the impact of diet, dietary components, and phytochemicals on metastasis suppressor genes. (springer.com)
  • ncbi.nlm.nih.gov
  • http://www.ensembl.org/Homo_sapiens/Transcript/Summary?db=vega;g=OTTHUMG00000170426;r=14:105491268-105499209;t=OTTHUMT00000074613 https://www.ncbi.nlm.nih.gov/nuccore/NM_001134875.1 http://bgee.unil.ch/bgee/bgee?page=gene&action=summary&gene_id=ENSG00000185347 https://www.ncbi.nlm.nih.gov/geoprofiles http://www.genecards.org/cgi-bin/carddisp.pl?gene=C14orf80 Altschul, S.F. (wikipedia.org)
  • pathways
  • Each amplicon had distinct enrichment pattern in pathways, networks, and molecular functions, but genes within individual amplicons did not form coherent functional units. (aacrjournals.org)
  • Mutated and gained genes did not show statistically significant overlap but were highly synergistic in populating key tumorigenic pathways including transforming growth factor β, WNT, fibroblast growth factor, and PIP3 signaling. (aacrjournals.org)
  • arrays
  • Furthermore, the sensitivity of these arrays is capable of detecting and mapping regions of single-copy losses, homozygous deletions, and amplicons of various sizes even when using full-complexity genomic samples. (clinicaltrials.gov)
  • The main methods used for creating virtual karyotypes are array-comparative genomic hybridization and SNP arrays. (wikipedia.org)
  • Recently, platforms for generating high-resolution karyotypes in silico from disrupted DNA have emerged, such as array comparative genomic hybridization (arrayCGH) and SNP arrays. (wikipedia.org)
  • Some consider all platforms to be a type of array comparative genomic hybridization (arrayCGH), while others reserve that term for two-dye methods, and still others segregate SNP arrays because they generate more and different information than two-dye arrayCGH methods. (wikipedia.org)
  • methylation
  • Some methods assess methylation of CpGs located in different classes of loci, including CpG islands, shores, and shelves as well as promoters, gene bodies, and intergenic regions. (wikipedia.org)
  • clinical
  • Julie Gastier-Foster, PhD, FACMG, is the Senior Director of the Institute for Genomic Medicine Clinical Laboratory and Vice Chair of Laboratory Genetics in the Department of Pathology and Laboratory Medicine. (nationwidechildrens.org)
  • Dr. Gastier-Foster has significant translational research funding to support the integration of genetic/genomic testing into clinical trials and promote biobanking and tumor processing. (nationwidechildrens.org)
  • proteins
  • The identified genes and proteins might be useful as molecular targets for improved diagnostic and therapeutic intervention and merit prospective validation. (youscribe.com)
  • If theHER-2/neu gene does not amplify in the case of polysomy, proteins may be overexpressed and could lead to tumerogenesis. (wikipedia.org)
  • BRCA1/2 are genes that produce proteins which regulate the DNA repair pathway by binding to Rad51. (wikipedia.org)
  • combination
  • One provides approximately 50x resistance to phosphine while the other provides 12.5x resistance and in combination, the two genes act synergistically to provide a resistance level 250x greater than that of fully susceptible beetles. (jove.com)
  • isolate
  • Pubmed ID: 12072472 High levels of inheritable resistance to phosphine in Rhyzopertha dominica have recently been detected in Australia and in an effort to isolate the genes responsible for resistance we have used random amplified DNA fingerprinting (RAF) to produce a genetic linkage map of R. dominica. (jove.com)
  • Isolate and characterize genes involved in the pathogenesis of CDD. (clinicaltrials.gov)
  • deletion
  • Second Hit: While the second hit is commonly assumed to be a deletion that results in loss of the remaining functioning TSG allele, the original published mechanism of RB1 LOH was mitotic recombination/gene conversion/copy-neutral LOH, not deletion. (wikipedia.org)
  • There is a critical difference between deletion and CN-LOH, as the latter mechanism cannot be detected by comparative genomic hybridization (CGH)-based gene copy number counting, and requires allelic genotyping. (wikipedia.org)
  • However, in recent studies, 9q34 deletion syndrome occurs when the EHMT1 gene is non-functioning, as opposed to strictly deletion. (wikipedia.org)
  • Retention
  • Retention of the complementing gene(s) during selection leads to enrichment, in the selected population of cells, of DNA copy number of the genomic region containing the complementing gene. (biomedcentral.com)
  • pathogenesis
  • As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. (wikipedia.org)
  • reside
  • No recombination has been observed between either of the two resistance loci and their adjacent DNA markers in a population of 44 fully resistant F5 individuals, which indicates that the genes are likely to reside within 0.91 cM (1.1 Mbp) of the DNA markers. (jove.com)
  • encodes
  • Researchers decided to test the drug in mice engineered to carry MD after earlier laboratory tests showed deleting a gene that encodes cycolphilin D reduced swelling and reversed or prevented the disease's muscle-damaging characteristics. (wikipedia.org)
  • This gene encodes a subunit of mitochondrial ATP synthase. (wikipedia.org)
  • This gene encodes the alpha subunit of the catalytic core. (wikipedia.org)
  • ultimately
  • Despite the diversity of platforms, ultimately they all use genomic DNA from disrupted cells to recreate a high resolution karyotype in silico. (wikipedia.org)
  • Ultimately, histone methyltransferases are important in deactivating certain genes, needed for proper growth and development. (wikipedia.org)
  • enzyme
  • ATP synthase subunit alpha, mitochondrial is an enzyme that in humans is encoded by the ATP5A1 gene. (wikipedia.org)
  • regulators
  • In general, mutated genes were more frequently upstream of gained genes in transcription regulation signaling than vice versa, suggesting that mutated genes are mainly regulators, whereas gained genes are mostly regulated. (aacrjournals.org)
  • mutation
  • Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene. (wikipedia.org)
  • The remaining copy of the tumor suppressor gene can be inactivated by a point mutation, leaving no tumor suppressor gene to protect the body. (wikipedia.org)
  • First Hit: The first hit is classically thought of as a point mutation, but generally arises due to epigenetic events which inactivate one copy of a tumor suppressor gene (TSG), such as Rb1. (wikipedia.org)
  • In the exception case, the mother transferred the EHMT1 point mutation on to her child as she was a carrier of this gene defect. (wikipedia.org)