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  • chromosomes
  • To gain the functional flexibility necessary to respond to different triggering signals, at least three isoforms of RyRs are expressed in mammals, each one encoded by a distinct gene ( ryr1 , ryr2 and ryr3 ), residing on separate chromosomes. (biomedcentral.com)
  • protein
  • If a cell retains DNA damage, transcription of a gene can be prevented and thus translation into a protein will also be blocked. (wikipedia.org)
  • also termed Pre-mRNA 3'-end-processing factor FIP1) is a protein that in humans is encoded by the FIP1L1 gene (also known as Rhe, FIP1, and hFip1). (wikipedia.org)
  • The fusion gene may produce a protein consisting of the first 233 amino acids of FIP1L1 joined to the last 523 amino acids of PDGFRA or fused proteins consisting of other FIP1L1 and PDGFRA amino acid lengths. (wikipedia.org)
  • The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. (wikipedia.org)
  • In simple terms, the protein produced by the ATM gene recognizes that there is a break in DNA, recruits other proteins to fix the break, and stops the cell from making new DNA until the repair is complete. (wikipedia.org)
  • Histone acetyltransferase p300 also known as p300 HAT or E1A-associated protein p300 (where E1A = adenovirus early region 1A) also known as EP300 or p300 is an enzyme that, in humans, is encoded by the EP300 gene. (wikipedia.org)
  • This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. (wikipedia.org)
  • It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. (wikipedia.org)
  • Although researchers do not know how a reduction in the amount of p300 protein leads to the specific features of Rubinstein-Taybi syndrome, it is clear that the loss of one copy of the EP300 gene disrupts normal development. (wikipedia.org)
  • leukemic
  • The identification of leukemic clones with unrelated DJ rearrangements and the presence of cytogenetic abnormalities on lineage negative cells strongly suggest the participation of primitive cells. (hindawi.com)
  • An medically important aspect of the FIP1L1 gene is its fusion with other genes to form fusion genes which cause hypereosinophilia and leukemic diseases in humans. (wikipedia.org)
  • RARA, (17q12) at various points yields a (15;17)(q22;q21) fusion gene, FIP1L1-RARA that also has been implicated in the development of human leukemic diseases in three case reports. (wikipedia.org)
  • regulation
  • The paradigm is based on the regulation of APC maturation and migration via ligation of pattern recognition receptors, but other examples include the ability of complement fragments to enhance B cell activation via CD21 ( 1 ) or direct effects of TLR ligation on lymphocyte activation ( 2 ). (jimmunol.org)
  • Our hypothesis is that the alternative splicing of Loqs-PA/Loqs-PB in fly and the gene expression of TRBP/PACT in mammals are finely regulated in each tissue and developmental stage, leading to regulated production of distinct miRNA isoforms, and that such fine regulation is important for biology. (jhmi.edu)
  • In all of these cells, RyRs play a central role in the regulation of the intracellular free Ca 2+ concentration ([Ca 2+ ] i ), whose elevation triggers a cascade of events that culminates in, for example, neurotransmitter release, hormone secretion, lymphocyte activation and egg fertilization. (biomedcentral.com)
  • enzyme
  • It functions as histone acetyltransferase that regulates transcription of genes via chromatin remodeling This enzyme plays an essential role in regulating cell growth and division, prompting cells to mature and assume specialized functions (differentiate), and preventing the growth of cancerous tumors. (wikipedia.org)
  • thymocytes
  • Transcriptional regulators AIRE and FEZ2 are expressed by the thymic medullary epithelium, and drives the transcription of organ-specific genes such as insulin to allow maturing thymocytes to be exposed to a more complex set of self-antigens than is present in the cortex. (wikipedia.org)
  • Disease
  • This is because the Reed-Sternberg cell (RSC) variants (popcorn cells) that characterize this form of the disease invariably express B lymphocyte markers such as CD20 (thus making NLPHL an unusual form of B cell lymphoma), and that (unlike classic HL) NLPHL may progress to diffuse large B cell lymphoma. (wikipedia.org)
  • cell
  • Gene-deficient mice revealed that Gpr97 is crucial for maintaining B-cell population via constitutive CREB and NF-κB activities. (wikipedia.org)
  • Thus
  • This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and, thus, plays a role in the stimulation of hypoxia-induced genes such as VEGF. (wikipedia.org)
  • different
  • Since they have the same genes, different environmental exposures explain why one twin gets ALL and the other does not. (wikipedia.org)
  • 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)
  • variable
  • The FIP1L1-PDGFRA fusion gene consists of the 5'-end of FIP1L1 united to the 3'-end of PGDFRA at variable breakpoints in both genes extending over a 40 kilobase region in FIP1L1 and a small region of exon 12 in PDGFRA. (wikipedia.org)
  • forms
  • A-T is caused by a defect in the ATM gene, which is responsible for managing the cell's response to multiple forms of stress including double-strand breaks in DNA. (wikipedia.org)
  • copy
  • This was discovered using array comparative genomic hybridization, a DNA-based alternative for clinical evaluation of HER2 gene copy number. (wikipedia.org)
  • For autosomal genes, diploid organisms inherit one copy from each parent. (wikipedia.org)
  • found
  • The FIP1L1 gene is found in a wide range of species, being designated as FIP1 in Saccharomyces cerevisiae (yeast) and fip1l1 in coho salmon as well as mice and numerous other mammalian species. (wikipedia.org)