• Chromosome
  • Other genetic abnormalities in PDGFRB lead to various forms of potentially malignant bone marrow disorders: small deletions in and chromosome translocations causing fusions between PDGFRB and anyone of at least 30 genes can cause Myeloproliferative neoplasms that commonly involve eosinophilia, eosinophil-induced organ injury, and possible progression to aggressive leukemia (see blow). (wikipedia.org)
  • Human chromosome translocations between the PDGFRB gene and at least any one of 30 genes on other chromosomes lead to myeloid and/or lymphoid neoplasms that are many ways similar to the neoplasm caused by the fusion of the PDGFRA (i.e. platelet derived growth factor receptor A or alpha-type-platelet derived growth factor receptor) gene with the FIP1L1 gene (see FIP1L1-PDGFRA fusion gene. (wikipedia.org)
  • A classic example of such a disease is chronic myelogenous leukemia, a neoplasm commonly caused by a mutation that creates the BCR-ABL1 fusion gene (see Philadelphia chromosome). (wikipedia.org)
  • lymphoid neoplasms
  • Discovery of genetic mutations underlining these eosinophilia syndromes lead to their removal from CEL-NOS or HES categories and classification as myeloid and lymphoid neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, FGFR1, and, tentatively, PCMA-JAK2. (wikipedia.org)
  • For lymphoid neoplasms, e.g. lymphoma and leukemia, clonality is proven by the amplification of a single rearrangement of their immunoglobulin gene (for B cell lesions) or T cell receptor gene (for T cell lesions). (wikipedia.org)
  • genes
  • The protein regulates expression of several genes involved in pituitary development and hormone expression. (cancerindex.org)
  • The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dendrites, implicating a role in determining and stabilizing dendritic shape during neuron development. (wikipedia.org)
  • Without Syk, the protein it makes, and genetic disruption in a panel of 55 genes thought also to be controlled by Syk, breast ductal carcinoma in situ (breast DCIS, which can become invasive), it is believed that the cancer has a markedly increased tendency to invade and metastasize. (wikipedia.org)
  • These fusion genes encode fusion proteins that continuously stimulate cell growth, proliferation, prolonged survival, and/or differentiation. (wikipedia.org)
  • They performed an initial study of the genome using random sequencing in 1993, by which they found 100,993 nucleotides and 390 protein-coding genes. (wikipedia.org)
  • Only 470 predicted coding regions (out of 482 protein encoding genes) were identified, including genes required for DNA replication, transcription and translation, DNA repair, cellular transport, and energy metabolism. (wikipedia.org)
  • Cytoplasm
  • Generally shows reactivity with S100 protein and SOX10 while negative: SMA, MSA Leiomyosarcoma: Fascicular architecture, with cigar-shaped nuclei showing blunt ends, perinuclear halos, and eosinophilic cytoplasm. (wikipedia.org)
  • Tumor
  • The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. (cancerindex.org)
  • Suggested theories include tumor production of plakin proteins which initiate an autoimmune response against them, and cross-reactivity of tumor antigens and epidermal antigens. (wikipedia.org)
  • Neoplasm is an abnormal growth of tissue which, if it forms a mass, is commonly referred to as a tumor. (wikipedia.org)
  • Secondary neoplasm refers to any of a class of cancerous tumor that is either a metastatic offshoot of a primary tumor, or an apparently unrelated tumor that increases in frequency following certain cancer treatments such as chemotherapy or radiotherapy. (wikipedia.org)
  • Current English, however, both medical and non-medical, uses tumor as a synonym for a neoplasm (a solid or fluid-filled cystic lesion that may or may not be formed by an abnormal growth of neoplastic cells) that appears enlarged in size. (wikipedia.org)
  • metabolism
  • These data are consistent with interdepot differences in fatty acid flux ensuing from differences in fatty acid binding proteins and enzymes of fat metabolism. (biomedsearch.com)
  • transcription
  • The ETV6 gene codes for a transcription factor protein that in mice appears to be required for hematopoiesis and maintenance of the developing vascular network. (wikipedia.org)
  • cellular
  • Studies on the cellular location, physical properties and endogenously attached lipids of acylated proteins in human squamous-carcinoma cell lines. (ox.ac.uk)
  • Two of the five PDGF isoforms activate PDGFRβ (PDGF-B and PDGF-D). The activated receptor phosphorylates itself and other proteins, and thereby engages intracellular signaling pathways that trigger cellular responses such as migration and proliferation. (wikipedia.org)
  • It is tempting to define neoplasms as clonal cellular proliferations but the demonstration of clonality is not always possible. (wikipedia.org)
  • Infiltrative, highly cellular spindled cell neoplasm that is poorly circumscribed and unencapsulated. (wikipedia.org)
  • Humans
  • LIM domain and actin-binding protein 1 is a protein that in humans is encoded by the LIMA1 gene. (wikipedia.org)
  • N-alpha-acetyltransferase 10 (NAA10) also known as NatA catalytic subunit Naa10 and arrest-defective protein 1 homolog A (ARD1A) is an enzyme subunit that in humans is encoded NAA10 gene. (wikipedia.org)
  • N-alpha-acetyltransferase 15, NatA auxiliary subunit also known as gastric cancer antigen Ga19 (GA19), NMDA receptor-regulated protein 1 (NARG1), and Tbdn100 is a protein that in humans is encoded by the NAA15 gene. (wikipedia.org)
  • Both, Naa15 and Naa16 interact with the ribosome in yeast (via the ribosomal proteins, uL23 and uL29), humans and rat, thereby linking the NatA/Naa10 to the ribosome and facilitating co-translational acetylation of nascent polypeptide chains as they emerges from the exit tunnel. (wikipedia.org)
  • Synaptophysin, also known as the major synaptic vesicle protein p38, is a protein that in humans is encoded by the SYP gene. (wikipedia.org)
  • Zinc finger MYM-type protein 2 is a protein that in humans is encoded by the ZMYM2 gene. (wikipedia.org)
  • Microtubule-associated protein 2 is a protein that in humans is encoded by the MAP2 gene. (wikipedia.org)
  • Hedgehog interacting protein (HHIP) is a protein that in humans is encoded by the HHIP gene. (wikipedia.org)
  • Insulin-like growth factor 2 mRNA-binding protein 2 is a protein that in humans is encoded by the IGF2BP2 gene. (wikipedia.org)
  • Beta-type platelet-derived growth factor receptor is a protein that in humans is encoded by the PDGFRB gene. (wikipedia.org)
  • Nucleoporin 88 (Nup88) is a protein that in humans is encoded by the NUP88 gene. (wikipedia.org)
  • Guanine nucleotide-binding protein G(o) subunit alpha is a protein that in humans is encoded by the GNAO1 gene. (wikipedia.org)
  • Fibroblast activation protein alpha is a 170 kDa melanoma membrane-bound gelatinase, protein that in humans is encoded by the FAP gene. (wikipedia.org)
  • phosphorylation
  • GW627368X reduced protein kinase A (PKA) phosphorylation which in turn leads to decreased cAMP response element-binding protein (CREB) activation. (cancerindex.org)
  • Owing to the interactive signaling between EP4 and EGFR, GW627368X lowered EGFR phosphorylation in turn reducing Akt, mitogen-activated protein kinase (MAPK) and GSK3β activity significantly. (cancerindex.org)
  • mutations
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Tumorigenesis is frequently associated with activating mutations in β-catenin gene inducing nuclear expression of β-catenin protein. (cancerindex.org)
  • Many patients who have sebaceous neoplasms with mutations in MSH2 and MLH1 do not in fact have Muir-Torre syndrome. (wikipedia.org)
  • The mutations cause these proteins to be continuously active and thereby to stimulate growth in an uncontrolled and continuous manner. (wikipedia.org)
  • A neoplasm can be caused by an abnormal proliferation of tissues, which can be caused by genetic mutations. (wikipedia.org)
  • regulation
  • Members of the hedgehog family are evolutionarily conserved proteins which are involved in many fundamental processes in embryonic development, including anteroposterior patterns of limbs and regulation of left-right asymmetry. (wikipedia.org)
  • starting with small side chains
  • Naa10, as part of the NatA complex, is bound to the ribosome and co-translationally acetylates proteins starting with small side chains such as Ser, Ala, Thr, Gly, Val and Cys, after the initiator methionine (iMet) has been cleaved by methionine aminopeptidases (MetAP). (wikipedia.org)
  • Naa15, together with its catalytic subunit Naa10, constitutes the evolutionarily conserved NatA (Nα-acetyltransferase A) complex, which acetylates the α-amino group of the first amino acid residue of proteins starting with small side chains like serine, glycine, alanine, threonine and cysteine, after the initiator methionine has been cleaved by methionine aminopeptidases. (wikipedia.org)
  • epithelial
  • In pediatric protein losing enteropathy there are several changes in epithelial cells causing PLE by augmenting the rate of flow of proteins (serum). (wikipedia.org)
  • This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. (wikipedia.org)
  • activation
  • Fibroblast activation protein is a homodimeric integral protein with dipeptidyl peptidase IV (DPPIV)-like fold, featuring an alpha/beta-hydrolase domain and an eight-bladed beta-propeller domain. (wikipedia.org)
  • acetylation
  • Despite the fact that Nα-terminal acetylation of proteins has been known for many years, the functional consequences of this modification are not well understood. (wikipedia.org)
  • Disease
  • The disease is due to conversion of the tightly regulated tyrosine kinase of ABL1 protein to being unregulated and continuously active in the BCR-ABL1 fusion protein. (wikipedia.org)
  • The causes of protein-losing enteropathy can include GI conditions (among other causes), like the following: Inflammatory bowel disease. (wikipedia.org)
  • Coeliac disease Common variable immunodeficiency (CVID) Primary intestinal lymphangectasia The pathophysiology of protein losing enteropathy is a result of plasma proteins loss, which enters GI tract (lumen). (wikipedia.org)
  • subunit
  • Together with its auxiliary subunit Naa15, Naa10 constitutes the NatA (Nα-acetyltransferase A) complex that specifically catalyzes the transfer of an acetyl group from acetyl-CoA to the N-terminal primary amino group of certain proteins. (wikipedia.org)
  • Furthermore, Naa15 might act as a scaffold for other factors, including the chaperone like protein HYPK (Huntingtin Interacting Protein K) and Naa50, the catalytic acetyltransferase subunit of NatE In S. cerevisiae, NAA15Δ and NAA10Δ knockout cells exhibit the same phenotype, and biochemical data indicate that uncomplexed Naa15 is unstable and gets degraded. (wikipedia.org)
  • Mutagenesis of the amino terminus of the alpha subunit of the G protein Go. (wikipedia.org)
  • amino group
  • This NatA complex can associate with the ribosome and catalyzes the transfer of an acetyl group to the Nα-terminal amino group of proteins as they emerge from the exit tunnel. (wikipedia.org)