• Our data show that, in contrast to adult MDS, Ras/MAPK pathway mutations are common in pediatric MDS (45% of primary cohort), while mutations in RNA splicing genes are rare (2% of primary cohort). (nature.com)
  • We show that Ras/MAPK pathway mutations are common in pediatric primary MDS (45%) while mutations in RNA splicing genes are rare (2%), and that germline SAMD9/SAMD9L mutations are present in 17% of primary MDS patients. (nature.com)
  • Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. (lu.se)
  • c-Myc binds to human ribosomal DNA and stimulates transcription of rRNA genes by RNA polymerase I. (fhcrc.org)
  • Grandori, Carla and Gomez-Roman, Natividad and Felton-Edkins, Zoe A and Ngouenet, Celine and Galloway, Denise A and Eisenman, Robert N and White, Robert J (2005) c-Myc binds to human ribosomal DNA and stimulates transcription of rRNA genes by RNA polymerase I. Nature cell biology, 7 (3). (fhcrc.org)
  • c-Myc coordinates cell growth and division through a transcriptional programme that involves both RNA polymerase (Pol) II- and Pol III-transcribed genes. (fhcrc.org)
  • Here, we demonstrate that human c-Myc also directly enhances Pol I transcription of ribosomal RNA (rRNA) genes. (fhcrc.org)
  • Cross-reference of the complement of RBPs recently identified by RNA interactome capture with cancer-associated genes and biological processes led to the identification of a set of 411 proteins with potential implications in cancer biology. (ox.ac.uk)
  • Targeted therapy is a cancer treatment that targets specific genes and proteins responsible for cancerous cell growth and survival. (yashodahospitals.com)
  • The FIP1L1-PDGFRA fusion gene (as well as other PDGFRA fusion genes) provides instructions for making a fusion protein that has the function of the normal PDGFRA protein. (medlineplus.gov)
  • These SGM mutations frequently affect cancer tumor suppressor genes such as TP53 , FAT1 , and APC , keeping them from fully forming to produce proteins that prevent abnormal cells from growing and causing cancer. (medscape.com)
  • We performed molecular clustering using data on chromosome-arm-level aneuploidy, DNA hypermethylation, mRNA, and miRNA expression levels and reverse-phase protein arrays, of which all, except for aneuploidy, revealed clustering primarily organized by histology, tissue type, or anatomic origin. (nih.gov)
  • Insulin-like growth factor 2 mRNA-binding protein 2 is a protein that in humans is encoded by the IGF2BP2 gene. (wikipedia.org)
  • This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. (wikipedia.org)
  • Identification and characterization of proteins that selectively interact with isoforms of the mRNA binding protein AUF1 (hnRNP D)". Biol. (wikipedia.org)
  • relative mRNA expression was evaluated by real-time polymerase chain reaction (RT-PCR), and relative protein expressions were measured by western blot assay in an in vitro study. (medscimonit.com)
  • relative protein expressions were evaluated by immunohistochemistry assay, and relative mRNA expression was evaluated by RT-PCR. (medscimonit.com)
  • Reverse transcription-PCR analysis of RNA extracted from resting and PMA-treated Dami cells confirmed that PAI-1 mRNA expression was detectable at low levels in resting cells and induced by PMA treatment. (mcmaster.ca)
  • They are RNA-BINDING PROTEINS involved in mRNA processing. (bvsalud.org)
  • FOXP2 mRNA and protein expression were characterised in normal human tissues, haematological cell lines and multiple myeloma (MM) patients' samples. (ox.ac.uk)
  • FOXP2 mRNA and protein were absent in mononuclear cells from different anatomical sites, lineages and stages of differentiation. (ox.ac.uk)
  • However, FOXP2 mRNA and protein was detected in several lymphoma (8/20) and all MM-derived cell lines (n = 4). (ox.ac.uk)
  • The FIP1L1 gene provides instructions for a protein that plays a role in forming the genetic blueprints for making proteins (messenger RNA or mRNA). (medlineplus.gov)
  • rRNA synthesis and accumulation occurs rapidly following activation of a conditional MYC-ER allele (coding for a Myc-oestrogen-receptor fusion protein), is resistant to inhibition of Pol II transcription and is markedly reduced by c-MYC RNA interference. (fhcrc.org)
  • Circular RNA circPFKP promotes cell proliferation by activating IMPDH2 in prostate cancer. (nih.gov)
  • This RNA production eventually results in the production of cellular proteins required for cell proliferation. (llu.edu)
  • Pathology of blastic plasmacytoid dendritic cell neoplasm (BPDCN).Skin involvement by blastic plasmacytoid dendritic cell neoplasm. (medscape.com)
  • Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a malignancy derived from plasmacyoid dendritic cells. (medscape.com)
  • The precursors of plasmacytoid dendritic cells are the cells of origin for blastic plasmacytoid dendritic cell neoplasm (BPDCN), a clinically aggressive disease with a proclivity for the skin and leukemic involvement and for which no consensus currently exists regarding optimal treatment modalities. (medscape.com)
  • Frequent sites of occurrence of blastic plasmacytoid dendritic cell neoplasm (BPDCN) include the skin, as well as the peripheral blood (PB) and bone marrow (BM). (medscape.com)
  • A diffuse infiltrate of medium-sized cells with dispersed chromatin ("blastic") is characteristic of blastic plasmacytoid dendritic cell neoplasm (BPDCN). (medscape.com)
  • The neoplastic cells in blastic plasmacytoid dendritic cell neoplasm (BPDCN) are typically positive for CD45, HLA-DR, CD43, CD4, CD56, and cutaneous lymphocyte-associated antigen (CLA). (medscape.com)
  • Leptin (LEP), a protein that plays a fundamental role in the metabolism of energy reserves, and the solute carrier family 30 A8 zinc transporter (SLC30A8) have been consistently associated with diabetes. (geneticsmr.com)
  • Amino acids link together by peptide bonds to form proteins, or function as chemical messengers and as intermediates in metabolism. (nih.gov)
  • The aim of this mini-review is to discuss emerging epigenetic roles of long non-coding RNAs (lncRNAs) in Acute Myeloid Leukemia (AML). (frontiersin.org)
  • In particular, there are incremental examples of the participation of the distinct class of long non-coding RNAs (lncRNAs) in AML epigenetic regulation, some of which have translational potential. (frontiersin.org)
  • With the recognition of long non-coding RNAs (lncRNAs), the expression of lncRNAs in serum or tissue samples has been reported as a diagnosis method for some cancers, however, the diagnostic value of lncRNAs for colorectal cancer remains unclear. (jcancer.org)
  • Long non-coding RNAs (lncRNAs) are a class of noncoding RNA over 200 nucleotides without protein coding capacity. (amegroups.org)
  • Reverse transcription is the synthesis of a complementary DNA sequence from an RNA template using reverse transcriptase, which is an RNA-dependent DNA polymerase. (medscape.com)
  • [ 1 ] Within the 2016 World Health Organization (WHO) category of "acute myeloid leukemia and related neoplasms," the related neoplasms derive from immature cells with evidence of myeloid differentiation, or from precursors of plasmacytoid dendritic cells. (medscape.com)
  • Acute myeloid leukemia is a hematopoietic neoplasm of dismal prognosis that results from the accumulation of immature myeloid blasts in the bone marrow and the peripheral blood. (frontiersin.org)
  • Certain myeloproliferative neoplasms may become acute myeloid leukemia (AML). (merck.com)
  • Single-nucleotide polymorphisms (SNPs) can alter gene function and protein expression. (geneticsmr.com)
  • It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. (nih.gov)
  • Cell-free system -- A mixture of cytoplasmic and/or nuclear components from cells used for in vitro protein synthesis, transcription, DNA replication, or other purposes. (nih.gov)
  • At higher concentrations, RNA and protein synthesis is also suppressed. (yashodahospitals.com)
  • This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. (nih.gov)
  • A primary malignant neoplasm of epithelial liver cells. (lookformedical.com)
  • Bleomycin is therapeutically used to treat malignant neoplasms such as sarcomas, lymphomas, melanomas, and germinal cell cancers. (yashodahospitals.com)
  • Bleomycin is approved for use in adults and can be used alone or with other drugs as palliative treatment and management of malignant neoplasms. (yashodahospitals.com)
  • Zambia is a landlocked country in southeastern Africa, with ease, liver disease, neurologic disorder, asplenia, malignant an estimated population of 17.4 million* and a generalized neoplasm, and current smoking. (cdc.gov)
  • The frequency of the type of neoplasm was higher for lung cancer, followed by malignant colon tumor. (cdc.gov)
  • For comparison, we similarly characterize 23 cases with overlapping features of MDS and myeloproliferative neoplasm (MDS/MPN), namely juvenile myelomonocytic leukemia (JMML), and 8 cases of AML with myelodysplasia-related changes (AML-MRC). (nature.com)
  • 1. A referral to p. 57 has been added to the table title, to refer the reader to the Myeloproliferative neoplasm, unclassifiable section, to which this table relates. (who.int)
  • The diagnosis of myeloproliferative neoplasm (MPN), The diagnosis of myeloproliferative neoplasm (MPN), unclassifiable, requires that either all 3 criteria are met. (who.int)
  • Chymotrypsin -- An enzyme that catalyses the hydrolysis (the breakdown) of proteins into peptides or amino acids in the small intestine. (nih.gov)
  • All cases are otherwise negative for Epstein-Barr virus (EBV) (assayed using in situ hybridization for EBV-encoded ribonucleic acid [RNA] [EBER-ISH]), B-cell, T-cell, myeloid, and natural killer (NK) cell markers, as well as for cytotoxic proteins (assayed using IHC). (medscape.com)
  • To identify potential predictive biomarkers beyond the genomic alteration by which treatment is assigned or resistance mechanisms using additional genomic, ribonucleic acid (RNA), protein and imaging-based assessment platforms. (ucbraid.org)
  • S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. (cancerindex.org)
  • Many neoplasm proteins have been characterized and are used as tumor markers (TUMOR MARKERS, BIOLOGICAL) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. (reference.md)
  • In contrast to the above model, we find that an enhancer trap inserted near the Dpp target gene, Daughters against Dpp ( Dad ), is expressed in additional somatic cells within the germarium,suggesting that Dpp protein may be distributed throughout the anterior germarium. (biologists.com)
  • Moreover, in females doubly mutant for bam and the ubiquitin protein ligase Smurf , the number of germ cells responsive to Dpp is greatly increased relative to the number observed in either single mutant. (biologists.com)
  • This study evaluated the effects of exogenous soluble CD40 ligand (sCD40L) on RNA-transfected DC preparations and their subsequent ability to generate antimelanoma cytolytic T cells. (duke.edu)
  • It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. (lookformedical.com)
  • Using ultrastructural and confocal laser scanning microscopic (CLSM) image analysis, we observed that treatment of Dami cells, a human megakaryocytic cell line, with phorbol myristate acetate (PMA) induces the accumulation of PAI-1 and Vn in intracellular storage vacuoles that contain other alpha-granule proteins such as von Willebrand factor. (mcmaster.ca)
  • Myeloproliferative neoplasms are a group of diseases of the bone marrow characterized by excessive production of red blood cells, platelets, or certain white blood cells. (merck.com)
  • Myeloproliferative neoplasms progress over time as the number of extra cells build up in the blood and/or bone marrow. (merck.com)
  • Antibody -- Any of the protein molecules produced by specialized immune system cells (B cells) that can recognize and bind to a particular foreign antigen. (nih.gov)
  • Interleukin-1 receptor-associated kinase 4 (IRAK4) was the dominant alternatively spliced isoform in MDS and AML and is characterized by a longer isoform that retains exon 4, which encodes IRAK4-long (IRAK4-L), a protein that assembles with the myddosome, results in maximal activation of nuclear factor kappa-light-chain-enhancer of B cells (NF-κB) and is essential for leukaemic cell function. (cancer-genetics.org)
  • Myeloid-related precursor neoplasms derive from precursor cells that have at least one form of myeloid differentiation. (medscape.com)
  • Enzyme -- A protein molecule that catalyzes chemical reactions of other substances without itself being destroyed or altered by the reactions. (nih.gov)
  • To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. (lu.se)
  • Expanding horizons: new roles for non-canonical RNA-binding proteins in cancer. (ox.ac.uk)
  • Identification of the genetic changes that cause cancer has long been the subject of intensive study, leading to the identification of several RNA-binding proteins (RBPs) linked to cancer. (ox.ac.uk)
  • Future studies should aim to understand these proteins and their connection to cancer from an RNA-centred perspective, holding the promise of new mechanistic understanding of cancer formation and novel approaches to diagnosis and treatment. (ox.ac.uk)
  • A neuron-specific in expression RNA-BINDING PROTEIN, involved in neurological disorders and cancer. (bvsalud.org)
  • Our study shows that tobacco smoking signatures in DNA generate these harmful protein-truncating mutations that contribute to the development of cancer and its increasing complexity over time," senior author Jüri Reimand, PhD, Ontario Institute for Cancer Research, Toronto, Canada, told Medscape Medical News . (medscape.com)
  • The investigators analyzed the protein-coding impact of mutations in 12,341 cancer genomes of patients with 18 cancer types. (medscape.com)
  • In The Cancer Genome Atlas (TCGA), lung cancer samples included 10.5 tobacco smoking-associated SGMs per genome on average: 73% of cancers had at least one, and 39% had at least 10 of these protein-truncating mutations. (medscape.com)
  • To uncover key regulators of poly(A) site use in specific conditions, we have developed PAQR, a method for quantifying poly(A) site use from RNA sequencing data and KAPAC, an approach that infers activities of oligomeric sequence motifs on poly(A) site choice. (nih.gov)
  • Application of PAQR and KAPAC to RNA sequencing data from normal and tumor tissue samples uncovers motifs that can explain changes in cleavage and polyadenylation in specific cancers. (nih.gov)
  • Here, we describe the somatic and germline changes of pediatric MDS using whole exome sequencing, targeted amplicon sequencing, and/or RNA-sequencing of 46 pediatric primary MDS patients. (nature.com)
  • Despite this progress, no study to date has performed comprehensive sequencing on a pediatric MDS cohort to fully understand somatic and germline variation in this neoplasm. (nature.com)
  • Genetic alterations were investigated by fluorescence in situ hybridization and/or targeted RNA sequencing. (johnshopkins.edu)
  • Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm. (reference.md)
  • Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. (lookformedical.com)
  • Tumor tissue contained messenger RNA for insulin-like growth factor-II (IGF-II), and circulating high molecular weight components and E-peptide of IGF-II were increased. (jci.org)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. (reference.md)
  • Apoptotic protein Bcl-2 and Bax expression levels were further quantified using real-time PCR and Western blotting. (medscimonit.com)
  • LSD1, also called KDM1A, discovered in 2004, is a member of a group of epigenetic proteins that regulate gene expression through chemical modifications of proteins, RNA and DNA. (merck.com)
  • Expression of IRAK4-L is mediated by mutant U2 small nuclear RNA auxiliary factor 1 (U2AF1) and is associated with oncogenic signalling in MDS and AML. (cancer-genetics.org)
  • Their aberrant expression plays an important role in the neoplasm and development of OC. (amegroups.org)
  • Scholars@Duke publication: CD40 ligand is essential for generation of specific cytotoxic T cell responses in RNA-pulsed dendritic cell immunotherapy. (duke.edu)
  • Tumors were commonly positive for S100 protein and CD56. (johnshopkins.edu)
  • Tumor glucose use in patients with non-islet-cell tumors has been difficult to measure, particularly in hepatoma, because of hepatic involvement by neoplasm. (jci.org)
  • The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. (cancerindex.org)
  • Similarly, point mutations in the PDGFRA gene can result in a PDGFRA protein that is activated without ligand binding. (medlineplus.gov)
  • Epigenetic regulation refers to the multiple chemical modifications of DNA or DNA-associated proteins that alter chromatin structure and DNA accessibility in a heritable manner, without changing DNA sequence. (frontiersin.org)
  • A growing body of evidence indicates that epigenetic regulators rely, amongst other factors, on their interaction with untranslated RNA molecules for guidance to particular targets on DNA. (frontiersin.org)
  • To date, most of our understanding of epigenetic regulation and its participation in leukemogenesis is based on the enzymatic activities and protein-protein interactions of histone and DNA modifiers. (frontiersin.org)
  • However, a growing body of evidence suggests that recruitment, stability, and function of epigenetic factors can be mediated by non-protein-coding RNAs. (frontiersin.org)
  • Mean viral loads for patients with pandemic (H1N1) RNA copies/mL). (cdc.gov)
  • They disable viruses by inducing SGMs in the viral RNA. (medscape.com)