• Tumors
  • Re-activation of PAX8 (or Pax2) expression has been reported in pediatric Wilms Tumors, almost all subtypes of renal cell carcinoma, nephrogenic adenomas, ovarian cancer cells, bladder, prostate, and endometrial carcinomas. (wikipedia.org)
  • encodes
  • This gene encodes an essential enzyme of nucleotide metabolism. (wikipedia.org)
  • In humans, this gene encodes a homotrimeric enzyme with two isoforms characterized by their distinct subcellular localizations: the nuclear isoform (DUT-N) and mitochondrial isoform (DUT-M). Northern blot analysis reveals distinct mRNA transcripts for DUT-N (1.1 kb) and DUT-M (1.4 kb). (wikipedia.org)
  • chromosome
  • DUTP pyrophosphatase, also known as DUT, is an enzyme which in humans is encoded by the DUT gene on chromosome 15. (wikipedia.org)
  • The PTGER4 gene is located on human chromosome 5p13.1 at position p13.1 (i.e. 5p13.1), contains 7 exons, and codes for a G protein coupled receptor (GPCR) of the rhodopsin-like receptor family, Subfamily A14 (see rhodopsin-like receptors#Subfamily A14). (wikipedia.org)
  • ING1 is located near the following genes on Chromosome 13 CARKD Carbohydrate Kinase Domain-Containing Protein (Unknown Function) COL4A2: A2 Subunit of type IV collagen RAB20: Potential regulator of Connexin 43 trafficking. (wikipedia.org)
  • By copying and replacing the altered area with a very similar area on the sister homolog chromosome, the gene can be replicated as if nothing was ever wrong on the chromosome. (wikipedia.org)
  • promoters
  • The isoforms are produced from alternative splicing at different 5' exons, with the first exon of DUT-N occurring 767 base pairs downstream of the first exon in DUT-M. Regulation at different promoters has been proposed to account for the differential expression of these isoforms. (wikipedia.org)
  • diseases
  • Since many chemotherapeutic agents such as 5-fluorouracil treat neoplastic diseases, including head and neck cancer, breast cancer, and gastrointestinal cancer, by targeting TS in thymidylate metabolism, DUT may protect against the cytotoxic side effects by countering dUTP accumulation. (wikipedia.org)
  • regulate
  • EP4 also interacts with Prostaglandin E receptor 4-associated protein (EPRAP) to inhibit phosphorylation of the proteasome protein, p105, thereby suppressing a cells ability to activate nuclear factor kappa B, a transcription factor that controls genes coding for cytokines and other elements that regulate inflammation, cell growth, and cell survival (see NF-κB#Structure). (wikipedia.org)
  • replication
  • These expression patterns correspond with their roles in the DNA replication cycle of their respective genomes, and thus indicate different regulatory mechanisms affecting each isoform. (wikipedia.org)
  • MTag plays a role in viral DNA replication and in the transition from early to late gene expression, and its absence can cause defects in viral capsid assembly. (wikipedia.org)
  • Recombinational repair (RR) is done at this point to try to fix the CDC7 gene so replication can occur. (wikipedia.org)
  • absence
  • A study on mice found that a specific subset of mouse genes (7%) was deregulated in the absence of HDAC1. (wikipedia.org)
  • nucleotide
  • Genetic and epigenetic changes can occur at many levels, from gain or loss of entire chromosomes, to a mutation affecting a single DNA nucleotide, or to silencing or activating a microRNA that controls expression of 100 to 500 genes. (wikipedia.org)
  • humans
  • 4F2 cell-surface antigen heavy chain is a protein that in humans is encoded by the SLC3A2 (solute carrier family 3 member 2) gene. (wikipedia.org)
  • However, evidence of MTag encoding and expression has also recently been reported in at least one virus of unrelated lineage, the trichodysplasia spinulosa polyomavirus, which is a normally asymptomatic infection in humans that sometimes causes the rare disease trichodysplasia spinulosa in immunocompromised individuals. (wikipedia.org)
  • RB1-inducible coiled-coil protein 1 is a protein that in humans is encoded by the RB1CC1 gene. (wikipedia.org)
  • Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene. (wikipedia.org)
  • Uroplakin-1a is a protein that in humans is encoded by the UPK1A gene. (wikipedia.org)
  • Cell division cycle 7-related protein kinase is an enzyme that in humans is encoded by the CDC7 gene. (wikipedia.org)
  • Transforming growth factor alpha (TGF-α) is a protein that in humans is encoded by the TGFA gene. (wikipedia.org)
  • Decorin is a protein that in humans is encoded by the DCN gene. (wikipedia.org)
  • HERV-R_7q21.2 provirus ancestral Env polyprotein is a protein that in humans is encoded by the ERV3 gene. (wikipedia.org)
  • role
  • chronic myeloid leukemia PATH:ko05220 Histone acetylation plays an important role in the regulation of gene expression. (wikipedia.org)
  • The PAX8 gene is also associated congenital hypothyroidism due to thyroid dysgenesis because of its role in growth and development of the thyroid gland. (wikipedia.org)
  • However, a functional role in angiogenesis the so-called process of blood vessel formation by interaction and regulation of Jmjd8 has been shown. (wikipedia.org)
  • This finding suggests a role for EGFR signaling in the regulation of CLOCK and circadian rhythms within the SCN. (wikipedia.org)
  • Taken together, the observation of genome conservation, the detection of transcript expression, and the presence of conserved ORFs is circumstantial evidence for a functional role. (wikipedia.org)
  • viral
  • Disruption of a single gene may also result from integration of genomic material from a DNA virus or retrovirus, and such an event may also result in the expression of viral oncogenes in the affected cell and its descendants. (wikipedia.org)
  • solely
  • It is a mistake to regard HDACs solely in the context of regulating gene transcription by modifying histones and chromatin structure, although that appears to be the predominant function. (wikipedia.org)
  • PKM1 and PKM2 are different splicing products of the M-gene (exon 9 for PKM1 and exon 10 for PKM2) and solely differ in 23 amino acids within a 56-amino acid stretch (aa 378-434) at their carboxy terminus. (wikipedia.org)
  • In clinical cancer samples, solely an up-regulation of PKM2, but no cancer specificity, could be confirmed. (wikipedia.org)
  • defects
  • PAX gene deficiencies can result in development defects called Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). (wikipedia.org)
  • growth
  • This process is mediated by a high-affinity interaction with VEGFR2 ( vascular endothelial growth factor receptor) which leads to increased levels of tumor suppressor gene called PEG3. (wikipedia.org)
  • liver
  • This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. (wikipedia.org)