• We have previously shown that disruption of the human CREB binding protein ( CREBBP or CBP ) gene, either by these gross chromosomal rearrangements or by point mutations, leads to RTS. (bmj.com)
  • When Saethre-Chotzen syndrome is caused by a chromosomal deletion instead of a mutation within the TWIST1 gene, affected children are much more likely to have intellectual disability, developmental delay, and learning difficulties. (medlineplus.gov)
  • Chromosomal rearrangements involving ETS transcription factors, such as ERG and ETV1, occur frequently in prostate cancer. (harvard.edu)
  • Runx1 is famous for its role in HSC emergence, and notorious for its involvement in leukemia, as chromosomal rearrangements and inactivating mutations in the human RUNX1 gene are some of the most common events in de novo and therapy-related acute myelogenous leukemia, myelodysplastic syndrome and acute lymphocytic leukemia. (ox.ac.uk)
  • The genetic basis for pediatric acute myeloid leukemia (AML) is highly heterogeneous, often involving the cooperative action of characteristic chromosomal rearrangements and somatic mutations in progrowth and antidifferentiation pathways that drive oncogenesis. (cheapebooks.org)
  • AML often is defined by the presence of recurrent chromosomal rearrangements that create chimeric fusion genes that promote AML development and progression. (cheapebooks.org)
  • Chromosomal rearrangements involving RET generate fusion transcripts that pair the 3′ end of RET with the 5′ end of another gene. (theoncologynurse.com)
  • While many papillary thyroid cancer (PTC) cases are associated with BRAF , RAS , or NTRK1 mutations, those that are negative may contain chromosomal rearrangements that disrupt RET . (theoncologynurse.com)
  • The total chromosomal content of a cell involves approximately 105 genes in a specialized macromolecule of deoxyribonucleic acid (DNA). (cdc.gov)
  • The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (bvsalud.org)
  • As the proteins catalyze all the biochemical reactions in our body, the implication is that the genes ultimately control and determine all the characteristics of the organism. (i-sis.org.uk)
  • The FUS protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. (medlineplus.gov)
  • Through gene ontology analysis, we found that permethrin deregulates ion channels in PBMCs and BMMCs and that malathion alters genes coding proteins with nucleic acid binding capacity, which was also observed in PBMCs exposed to permethrin. (bvsalud.org)
  • Additionally, we found that both insecticides deregulate genes coding proteins with chemotaxis functions, ion channels, and cytokines. (bvsalud.org)
  • Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
  • Patients can have homozygous or compound heterozygous mutations in the genes of GPIIb and GPIIIa, leading to quantitative or qualitative abnormalities of the platelet receptor proteins. (medscape.com)
  • These epigenetic changes can affect the activity of proteins called transcription factors and DNA sequences called enhancers, known as the gene regulatory network. (embl.org)
  • These are sequences of DNA that don't carry instructions for making proteins, but are responsible for other functions such as gene regulation. (embl.org)
  • The regenerated genome-edited events of Gonja Manjaya showed mutations in the targeted sites with the potential to prevent proper transcription or/and translational into functional viral proteins. (nature.com)
  • Specialized cell structures called ribosomes are the cellular organelles that actually synthesize the proteins (RNA transcription). (cdc.gov)
  • Two point mutations, one 11 bp deletion, and one mutation affecting the splicing of the second exon were detected by subsequent sequencing. (bmj.com)
  • The PU.1/SPI1 gene is inactivated by point mutations in human myeloid malignancies. (ox.ac.uk)
  • Similar to other RNA viruses, RVAs show high genomic diversity, which is generated primarily through point mutations, reassortment, rearrangement, and recombination events. (cdc.gov)
  • RET gain-of-function point mutations may also be present in 50% to 65% of sporadic medullary thyroid cancer (MTC) cases. (theoncologynurse.com)
  • Genetic analyses have provided a wealth of information on the genectic constitution of STT, and clearly nonrandom patterns of genetic changes, ranging from point mutations and gene fusions to massive genomic imbalalnces, have been identified in each histological entity studied in sufficient detail. (lu.se)
  • SIGNIFICANCE: The demonstration that a somatic point mutation tips the balance of genome-binding pattern provides a mechanistic paradigm for how missense mutations in transcription factor genes may be oncogenic in human tumors.This article is highlighted in the In This Issue feature, p. 681. (ox.ac.uk)
  • Almost 100 different mutations have been identified in GPIIb, which include missense mutations, nonsense mutations, deletions, and insertions, with most being missense mutations. (medscape.com)
  • Mutations identified in GPIIIa include missense mutations, nonsense mutations, deletions insertions, inversion/deletions, and rearrangements, with most being missense mutations as well. (medscape.com)
  • 2 Germline RET missense mutations are found in nearly all multiple endocrine neoplasia type 2 syndromes, which confer increased risk for MTC, and are involved in the pathogenesis of approximately 25% of MTCs. (theoncologynurse.com)
  • Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). (oncotarget.com)
  • 1 Analysis of V gene rearrangements in single L&H cells revealed the presence of somatic mutations with intraclonal diversity in functional monoclonal V gene rearrangements, in line with a GC B cell origin. (bmj.com)
  • The RUNX1 gene mutations associated with these diseases are somatic mutations and are not inherited. (medlineplus.gov)
  • CBP is a large nuclear protein involved in transcription regulation, chromatin remodelling, and the integration of several different signal transduction pathways. (bmj.com)
  • Analyses of the entire CBP gene by the protein truncation test showed 4/37 truncating mutations. (bmj.com)
  • Genes determine characters in a straightforward, additive way: one gene-one protein, and by implication, one character. (i-sis.org.uk)
  • ISRIB (integrated stress response inhibitor) as a drug, imparts resistance to the cells against the downstream effects of eukaryotic initiation factor 2 (eIF2)α phosphorylation such as activating transcription factor 4 (ATF4) and eukaryotic translation initiation factor 4E (eIF4E)-binding protein 1 (4E-BP1) induction. (sigmaaldrich.com)
  • The TWIST1 gene provides instructions for making a protein that plays an important role in early development. (medlineplus.gov)
  • This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. (medlineplus.gov)
  • Mutations in the TWIST1 gene prevent one copy of the gene in each cell from making any functional protein. (medlineplus.gov)
  • The FUS gene provides instructions for making a protein that is found within the cell nucleus in most tissues and is involved in many of the steps of protein production. (medlineplus.gov)
  • Most of these mutations change single protein building blocks in the FUS protein and often affect the region of the protein involved in DNA binding and mRNA processing. (medlineplus.gov)
  • The ETS-domain transcription factors divide into subfamilies based on protein similarities, DNA-binding sequences, and interaction with cofactors. (ox.ac.uk)
  • This gene encodes a protein with protease activity and is expressed in the placenta. (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. (arigobio.com)
  • The synthesis of non-AUG initiated protein is suppressed in Burkitt's lymphomas, suggesting its importance in the normal function of this gene. (arigobio.com)
  • Mutations, overexpression, rearrangement and translocation of this MYC gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma.The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. (omnimabs.com)
  • Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
  • Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
  • As an example TP 53 refers to the gene and p53 refers to the protein. (cancerquest.org)
  • One basic problem is how a decrease in tRNA levels, by downregulating Pol III efficiency, influences the expression pattern of protein-coding genes. (mdpi.com)
  • Runx1 is a sequence-specific DNA-binding protein, that along with its homologues Runx2 and Runx3 and their shared non-DNA binding subunit CBFbeta, constitute a small family of transcription factors called core-binding factors (CBFs). (ox.ac.uk)
  • reported finding a vaccine-derived nonstructural protein 2 (NSP2) gene in 2 wild-type RVA strains with a G1P[8] genogroup 1 backbone ( 6 ). (cdc.gov)
  • Phenotypic analysis of these ' in locus ' mutations based on both expression of Kni protein and adult wing phenotypes, reveals novel unexpected features of L2-CRM function including evidence for a chromosome pairing-dependent process that promotes transcription. (elifesciences.org)
  • NEMO consists of 10 exons, and most mutations cause deletions of exons 4-10, resulting in a truncated protein. (medscape.com)
  • Activation of the transcription factor nuclear factor KB (NF-KB) requires the NEMO protein. (medscape.com)
  • Hypomorphic mutations may impair but not abolish NEMO protein function. (medscape.com)
  • A change in one DNA nucleotide which may result in the substitution of one amino acid for another in a protein produced by a gene. (gene.vision)
  • 7 Several studies analysing AID expression and mutation patterns in V gene rearrangements in various B cell non-HLs showed that, although somatic hypermutation activity is strictly dependent on AID, the expression of this protein does not necessarily indicate ongoing somatic hypermutation. (bmj.com)
  • The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). (medlineplus.gov)
  • Like other transcription factors, the RUNX1 protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. (medlineplus.gov)
  • This protein interacts with another protein called core binding factor beta or CBFβ (produced from the CBFB gene), which helps RUNX1 bind to DNA and prevents it from being broken down. (medlineplus.gov)
  • The RUNX1 protein turns on (activates) genes that help control the development of blood cells (hematopoiesis). (medlineplus.gov)
  • RQ-PCR and Western blot analysis confirmed overexpression of IRS4 at the gene and protein level. (atlasgeneticsoncology.org)
  • 4 Once activated, RET engages intracellular signaling pathways, including the mitogen‐activated protein kinase, PI3K/AKT, and Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathways. (theoncologynurse.com)
  • One of the few antigens against which mammals develop protective immunity is the highly polymorphic OspC protein, encoded by the ospC gene on the cp26 plasmid. (cdc.gov)
  • By means of DNA sequencing of a large sample collection of the pathogen from across the United States, we studied the gene for the bacterium's highly diverse OspC protein, protective immunity against which develops in animals. (cdc.gov)
  • Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.org)
  • of genetic material, in the region of chromosome 7 that contains the TWIST1 gene. (medlineplus.gov)
  • Researchers believe that a loss of other genes on chromosome 7 may be responsible for these additional features. (medlineplus.gov)
  • The genetic changes associated with these cancers are rearrangements (translocations) of genetic material between chromosome 16 (where the FUS gene is located) and other chromosomes. (medlineplus.gov)
  • These translocations break chromosome 16 in the middle of the FUS gene and fuse it with another gene on a different chromosome, creating a fusion gene. (medlineplus.gov)
  • Future reports could continue to delineate the description, considering the relationship between the chromosome segment and the genes involved. (bvsalud.org)
  • The structural gene for catalase in Drosophila melanogaster has been localized to region 75D1-76A on chromosome 3L by dosage responses to segmental aneuploidy. (lookformedical.com)
  • [ 2 ] The defect in the X chromosome is proximal to the gene for factor VIII at Xq28. (medscape.com)
  • One chromosome contains many genes. (gene.vision)
  • Naturally occurring genetic variations (present in at least 1% of the population) in a single nucleotide, DNA sequence, gene or chromosome that have no adverse effects on the individual. (gene.vision)
  • Firstly, long-range rearrangements of the three-dimensional structure of the chromosome may influence gene expression in an heritable fashion. (medecinesciences.org)
  • The translocation, written as t(8;21), combines genetic information from chromosome 21 and chromosome 8, fusing the RUNX1 gene on chromosome 21 with a gene on chromosome 8 called RUNX1T1 (also known as ETO ). (medlineplus.gov)
  • Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)
  • We confirmed the overexpression of dosage-sensitive genes along the duplicated region using RT-qPCR. (bvsalud.org)
  • We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to a KMT2A-MLLT1 fusion and 2 extra copies of the ELL gene, thus resulting in the concurrent overexpression of MLLT1 and ELL. (cancerindex.org)
  • Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. (arigobio.com)
  • Overexpression of ZmWUS1-B is due to multimerized binding sites for type-B RESPONSE REGULATORs (RRs), key transcription factors in cytokinin signaling. (nature.com)
  • The t(X;7)(q22;q34) in paediatric T-cell acute lymphoblastic leukaemia results in overexpression of the insulin receptor substrate 4 gene through illegitimate recombination with the T-cell receptor beta locus. (atlasgeneticsoncology.org)
  • High-throughput analysis of human cytomegalovirus genome diversity highlights the widespread occurrence of gene-disrupting mutations and pervasive recombination. (cdc.gov)
  • Intragenic recombination among ospC genes is known, but the extent to which recombination extended beyond the ospC locus itself is undefined. (cdc.gov)
  • Loss of expression is rarely due to deletion, mutation, or rearrangement of the MGMT gene, but methylation of discrete regions of the CpG island of MGMT has been associated with the silencing of the gene in cell lines. (aacrjournals.org)
  • 1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia. (cancerindex.org)
  • Gene reduction analysis revealed that the gene deletion processes are under selective pressure, and many of the inactivations are probably related to the organism's interaction with its host environment. (asm.org)
  • Deletion of 6q , STIL/TAL1 fusion and NOTCH1 mutation. (atlasgeneticsoncology.org)
  • Different cancer types tend to depend on a limited number of 'driver' oncogene mutations. (cancerquest.org)
  • We describe areas where major inroads were initially achieved by targeting angiogenesis and by unraveling pathways in the heterogeneous tumors of mesenchymal origin-spurred by the identification of c-Kit-activating mutations in GIST and the regressions that ensued when tumors harboring these mutations were exposed to the tyrosine kinase inhibitor imatinib (Gleevec). (cancernetwork.com)
  • Here, in Part I, we describe areas where major inroads were initially achieved by targeting angiogenesis (central to the biology of renal cell carcinoma and hepatocellular cancer) and by unraveling pathways in the heterogeneous tumors of mesenchymal origin-spurred by the identification of c-Kit-activating mutations in gastrointestinal stromal tumors (GIST) and the regressions that ensued when tumors harboring these mutations were exposed to the tyrosine kinase inhibitor imatinib (Gleevec). (cancernetwork.com)
  • Cytogenetics advances of B-ALL have led to the discovery of numerous additional genetic changes, including mutations involving key cellular pathways in lymphoid development, tumor suppression, and cell cycle regulation. (biomedcentral.com)
  • Here we will review the role of Runx1 in HSC emergence in the mouse conceptus and describe some of the genetic pathways that operate upstream and downstream of this gene. (ox.ac.uk)
  • These so-called class II alterations often involve transcription factors that serve to block differentiation of hematopoietic progenitor cells, which subsequently acquire cooperating mutations in other pathways, often tyrosine kinase or RAS, which are progrowth pathway mutations (class I mutations). (cheapebooks.org)
  • They act as mediators between multiple growth factor receptors that possess tyrosine kinase activity, such as the insulin and insulin growth factor receptors, and a complex network of intracellular signalling molecules, resulting in activation of, for example, the PI3K and RAS/ERK pathways and subsequent transcription of target genes. (atlasgeneticsoncology.org)
  • A rearrangement (translocation) of genetic material involving the RUNX1 gene is found in approximately 7 percent of individuals with a form of blood cancer known as acute myeloid leukemia (AML). (medlineplus.gov)
  • The translocation does not result in a fusion gene. (atlasgeneticsoncology.org)
  • Pre-B ALL patients without recurrent gene fusions (104) were classified using a gene-expression profile based on Ph-like signature genes analyzed by qRT-PCR. (bvsalud.org)
  • A Recurrent Activating Missense Mutation in Waldenström Macroglobulinemia Affects the DNA Binding of the ETS Transcription Factor SPI1 and Enhances Proliferation. (ox.ac.uk)
  • We identified a recurrent somatic mutation (Q226E) in PU.1/SPI1 in Waldenström macroglobulinemia, a B-cell lymphoproliferative disorder. (ox.ac.uk)
  • Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. (oncotarget.com)
  • Recurrent EWSR1-CREB3L1 Gene Fusions in Sclerosing Epithelioid Fibrosarcoma. (lu.se)
  • Recurrent PRDM10 Gene Fusions in Undifferentiated Pleomorphic Sarcoma. (lu.se)
  • Genes, Chromosomes and Cancer. (lu.se)
  • RET (rearrangement during transfection) is a tyrosine kinase receptor that, when fused with a partner molecule, activates oncogenic activity and promotes unchecked cellular proliferation. (theoncologynurse.com)
  • Familial predisposition specific to leukemia is uncommon but has resulted in the identification of predisposing non-silent variants that are also observed in sporadic ALL cases, including TP53 germline mutations and low hypodiploid B-ALL, ETV6 variants and hyperdiploid ALL, and PAX5 mutations and B-ALL with dicentric/isochromosome 9. (haematologica.org)
  • Screening the CBP gene for larger deletions, by using different cosmid probes in FISH, showed 14/171 microdeletions. (bmj.com)
  • Specific mutations involving the FUS gene are involved in several types of cancer. (medlineplus.gov)
  • FUS gene mutations have also been found in myxoid liposarcomas, which occur in fatty tissues of the body, and in cancer of the blood-forming cells in the bone marrow called acute myeloid leukemia (AML). (medlineplus.gov)
  • Alkylation of DNA at the O 6 position of guanine is an important step in the formation of mutations in cancer, primarily due to the tendency of the O 6 -methylguanine to pair with thymine during replication, resulting in a conversion of guanine-cytosine to adenine-thymine pairs in DNA (2) . (aacrjournals.org)
  • Several genes deregulated in this study are potentially associated with cancer onset and development, and some of them have been reported to be deregulated in hematological cancer. (bvsalud.org)
  • However, prospective identification of targets in the clinic will not only illuminate their clinical significance, but will also further accelerate drug development-witness the way in which the introduction of gefitinib (Iressa) for lung cancer was followed in less than a decade by the identification of driver mutations, new targeted drugs, and the universal adoption of molecular profiling for treatment selection. (cancernetwork.com)
  • A diagram showing the major cancer genes for some cancers. (cancerquest.org)
  • The larger the gene name, the more frequently that gene is defective in that cancer type. (cancerquest.org)
  • Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
  • These genes have been found to be either malfunctioning or non-functioning in many different kinds of cancer. (cancerquest.org)
  • These mutations are the main changes that make the cancer progress. (cancerquest.org)
  • ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
  • however, RAS mutations are rare in breast cancer, despite frequent hyperactivation of Ras and ERK. (harvard.edu)
  • Here, we report that the RasGAP gene, RASAL2, functions as a tumor and metastasis suppressor in the MMTV mouse model of breast cancer. (harvard.edu)
  • For patients with or without cancer (as defined in the policy), established standard-of-care MRD tests using single-gene PCR (i.e. (codemap.com)
  • Mutations in this gene predispose humans to breast and ovarian cancer. (bvsalud.org)
  • Inoculation with a high dose strains of LMP1 transgenic mice vide a powerful tool in mechanistic of EBV caused a B-cell lymphopro- were established that express LMP1 studies on the role of individual viral liferative disorder in these mice, under the control of the immunoglob- genes in cancer. (who.int)
  • The mutations that cause these tumors are acquired during a person's lifetime and are present only in the tumor cells. (medlineplus.gov)
  • Most commonly, mutations in this gene are found in tumors called soft tissue sarcomas, which develop in bones or in soft tissues such as nerves or cartilage. (medlineplus.gov)
  • Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. (oncotarget.com)
  • ETS genes are targeted through genomic rearrangements in oncogenesis. (ox.ac.uk)
  • What DNA viral genomic rearrangements tell us about persistence. (cdc.gov)
  • Although some driver mutations are shared with adult AML, many genetic lesions are unique to pediatric patients, and their appropriate identification is essential for patient care. (cheapebooks.org)
  • It functions as a transcription factor that regulates transcription of specific target genes. (arigobio.com)
  • These information indicate that AR ERK signal ing regulates the transcription of selective molecular apocrine genes. (cdantigens.com)
  • used genome editing to make mutations in a stretch of DNA that regulates the gene involved in wing vein formation. (elifesciences.org)
  • 2 Gain-of-function changes, including mutations and fusions, have been associated with malignancies. (theoncologynurse.com)
  • 2 At this time, 13 oncogenic RET/PTC fusions have been identified, 6 and approximately 90% of RET rearrangements are RET/PTC1 and RET/PTC3 . (theoncologynurse.com)
  • 2 The frequency of RET mutations or fusions varies widely but has been identified in 5% to 40% of cases of PTC. (theoncologynurse.com)
  • Mutant SPI1 binding at promoters activates gene sets typically promoted by other ETS factors, resulting in enhanced proliferation and decreased terminal B-cell differentiation in model cell lines and primary samples. (ox.ac.uk)
  • Activates the transcription of growth-related genes. (arigobio.com)
  • In the CZ, WUS activates the CLV3 gene, encoding a short signaling peptide perceived by a series of leucine-rich repeat (LRR)-receptor-like complexes, among which are complexes containing CLV1 and CLV2. (nature.com)
  • These genes, in turn, increase the risk that more mutations will occur in developing lymphoid cells. (wikipedia.org)
  • Random mutations occur, but these are very rare, about one in a billion or less. (i-sis.org.uk)
  • Instead of finding a single clear cause, their results showed large epigenetic disturbances - changes that don't occur in the DNA sequence itself, but are responsible for enhancing or reducing the activity of certain genes. (embl.org)
  • In summary, we describe oncogenic subversion of transcription factor function through subtle alteration of DNA binding leading to cellular proliferation and differentiation arrest. (ox.ac.uk)
  • Despite the differences in their normal roles, these genes all contribute to unregulated cell division if they are present in a mutant (oncogenic) form. (cancerquest.org)
  • and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)
  • People with ALS caused by mutations in the FUS gene tend to develop the disease at a younger age and have a decreased life expectancy compared with individuals who have sporadic ALS or ALS caused by mutations in other genes. (medlineplus.gov)
  • HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
  • X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia, results from a mutation of the BTK gene, which encodes the pre-B-cell receptor (Pre-BCR) and BCR. (medscape.com)
  • The knirps ( kni ) locus encodes transcription factors required for induction of the L2 wing vein in Drosophila . (elifesciences.org)
  • ALS mutations in TLS/FUS disrupt target gene expression. (medlineplus.gov)
  • This study aimed to investigate whether in vitro exposure to 0.1 µM permethrin and malathion at 0, 24, 48 and 72 h after cell culture initiation induced changes in the gene expression and DNA methylation in mononuclear cells from bone marrow and peripheral blood (BMMCs, PBMCs). (bvsalud.org)
  • Both pesticides induced several gene expression modifications in both tissues. (bvsalud.org)
  • Our results suggest that these pesticides have the potential to modify gene expression through changes in promoter DNA methylation and potentially through other mechanisms that should be investigated. (bvsalud.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Among these are traits that depend on functional meristems, populations of stem cells maintained by the CLAVATA-WUSCHEL (CLV-WUS) negative feedback-loop that controls the expression of the WUS homeobox transcription factor. (nature.com)
  • A distinct ZmFCP1-FEA3 ligand-receptor combination, originally identified in maize, prevents WUS gene expression in the region below the OC (also called rib zone, RZ), thus confining WUS expression within the OC of meristems 6 . (nature.com)
  • The regulation of WUS transcription is crucial for meristem homeostasis, whereby high WUS expression leads to enlarged meristems and low expression leads to the formation of small meristems 3 , 14 . (nature.com)
  • The fold modifications for gene expression following treat ments were calculated relative to that of your manage group in both cell lines. (cdantigens.com)
  • The other molecular apocrine genes both didn't possess a constant reduction or showed a slight boost in gene expression following the inhibition of AR and ERK. (cdantigens.com)
  • Impor tantly, PIP and DUSP6 had one of the most prominent reduc tion in gene expression following the inhibition of AR ERK having a fold alter ranging from 0. (cdantigens.com)
  • The surprising thing was that we were expecting strong differences in the gene expression levels, but couldn't find anything. (embl.org)
  • It shows that there is much more information to be found in the chromatin states of a cell, rather than only looking at gene expression levels," says Judith. (embl.org)
  • 11 To clarify this issue for lymphocyte predominant HL we quantitatively examined the expression of AID in the L&H cells of six patients with lymphocyte predominant HL at the transcription level, because suitable antibodies for immunohistochemistry are not yet available. (bmj.com)
  • How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
  • 3. Translational research - to identify predictive biomarkers for treatment decision - by immunohistochemistry, gene expression or sequencing. (lu.se)
  • Unlike sequence-specific transcription factors, epigenetic regulators do not necessarily bind DNA at consensus sequences, but still achieve reproducible target binding in a manner that is cell and maturation-type specific. (frontiersin.org)
  • A frequently affected pathway was the JAK/STAT pathway (18%) and a significant proportion of T-ALL patients harboured mutations in epigenetic regulators (33%), both predominantly found in the unfavourable subgroup of early T-ALL. (oncotarget.com)
  • The effects of these mutations unexpectedly suggested that pairs of chromosomes might be interacting to control the activity of this gene. (elifesciences.org)
  • The coordinated transcription of the genome is the fundamental mechanism in molecular biology. (mdpi.com)
  • Genetic studies have identified a number of transcription factors and signaling molecules that act at the onset of hematopoiesis, and have begun to delineate the molecular mechanisms underlying the formation of HSCs. (ox.ac.uk)
  • As a result, in this study we investigated the remaining ten genes which might be extremely ranked within the molecular apocrine signature. (cdantigens.com)
  • Up coming, we ranked molecular apocrine genes primarily based on their fold modify in expres sion following the modulation of AR ERK signaling. (cdantigens.com)
  • A deep understanding of molecular mechanisms relevant to gene-environment interactions is needed to deliver etiology-based autoimmune disease prevention and treatment strategies. (frontiersin.org)
  • The lack of intergenic complementation between the six catalase mutations strongly suggests that there is only one functional gene in Drosophila. (lookformedical.com)
  • The authors also examined alignments of the NSP2 gene and found no differences at functional domains between the vaccine-derived NSP2 and the circulating wild-type NSP2 ( 6 ). (cdc.gov)
  • Functional annotation of human cytomegalovirus gene products: an update. (cdc.gov)
  • The sequencing templates were prepared by using sequence-independent whole-genome reverse transcription PCR amplification ( 7 ) with slight modifications. (cdc.gov)
  • Using whole-genome sequencing of OS, we found features of TP53 intron 1 rearrangements suggesting a unique mechanism correlated with transcription. (oncotarget.com)
  • In 2015, researchers reported that they had used components of the CRISPR/Cas9 genome editing system to edit genes so that they could propagate in a "Super-Mendelian" fashion. (elifesciences.org)
  • including the two researchers involved in the 2015 work - have used a new active genetic element called a CopyCat element and more traditional genome editing to analyze the control of a gene that coordinates the formation of a simple structure in a fruit fly - a vein in the wing. (elifesciences.org)
  • This reference system allows the integration of purely genetic mutations at one of its ends, thus paving the way to a new, gradual vision that encompasses the genome and the epigenome. (medecinesciences.org)
  • In participating UK research institutions, investigators can publish open access in Genome Research, Genes & Development, RNA, and Learning & Memory without article publication charges and all staff can read the entire renowned Cold Spring Harbor journal collection. (cshlpress.com)
  • The genome-edited events of plantain Gonja Manjaya were generated with mutations in the targeted sites of integrated eBSV sequences in the host genome. (nature.com)
  • These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)
  • We revisited a four-generation LFS family where no TP53 mutation had been identified and found a 445 kb inversion spanning from the TP53 intron 1 towards the centromere. (oncotarget.com)
  • Emergence of LSC is dependent on individual or combined genetic mutations that broadly determine the cellular affiliation of the leukemia, and permit or impose ectopic self-renewal and a restricted differentiation potential into what constitutes the proliferative bulk of the leukemia ( 5 , 6 ). (frontiersin.org)
  • This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts. (medlineplus.gov)
  • Constitutional syndromes such as Down syndrome and ataxia-telangiectasia are associated with increased risk of B-cell-ALL (with CRLF2 rearrangement) and T-cell-ALL, respectively. (haematologica.org)
  • CRLF2, ABL1/2 rearrangements, and Ik6 isoform were screened using RT-PCR and FISH. (bvsalud.org)
  • We used methylation-specific PCR to study the promoter methylation of the MGMT gene. (aacrjournals.org)
  • Here we show that the maize dominant Barren inflorescence3 ( Bif3 ) mutant harbors a tandem duplicated copy of the ZmWUS1 gene, ZmWUS1-B , whose novel promoter enhances transcription in a ring-like pattern. (nature.com)
  • CSR in the S areas is definitely preceded by transcription of the two S areas starting from the I promoter located 5 to each S region. (roma2024.com)
  • Through profiling DNA methylome of individual tumor foci, we found that promoter methylation status of genes involved in detection of chemical stimulus, immune response, and Hippo/YAP1 pathway was significantly changed in mGBM. (thno.org)
  • More recently, the successes in the treatment of the notoriously refractory malignant melanoma via the targeting of a specific BRAF mutation and via immune activation represent an unprecedented achievement of this new therapeutic direction. (cancernetwork.com)
  • 4,5 While rare germline RET mutations have been found in cases of MTC with unclear pathogenic effects, somatic RET mutations are associated with an aggressive MTC phenotype. (theoncologynurse.com)
  • While t(8;21) is important for leukemia development, a mutation in one or more additional genes is typically needed for the myeloid blasts to develop into cancerous leukemia cells. (medlineplus.gov)
  • Translocations and other types of mutations involving the RUNX1 gene have been associated with different types of leukemia and related blood disorders, including acute lymphoblastic leukemia (ALL), chronic myelomonocytic leukemia (CMML), familial platelet disorder with predisposition to acute myeloid leukemia, and myelodysplastic syndromes (MDS). (medlineplus.gov)
  • Transcription factor RUNX1 promotes survival of acute myeloid leukemia cells. (medlineplus.gov)
  • The G2P[4] strains from the 2010-11 season shared 97.6%-100% nt identity for the NSP2 gene, except for strain 2011729115, which exhibited only 86.8%-87.3% nt identity with the other circulating G2P[4] strains. (cdc.gov)
  • Over time, OspC genes were transferred between strains through recombinations involving the whole or parts of the gene and one or both flanks. (cdc.gov)
  • Fusion genes usually have partial function of both genes involved. (medlineplus.gov)
  • However, for patients with a KMT2A rearrangement (KMT2A-r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. (cancerindex.org)
  • Thus, a precise characterization of KMT2A-r and the fusion partner genes, especially in CKs, is of interest for managing AML. (cancerindex.org)
  • In 2008, the Rotavirus Classification Working Group established a system of extended classification that was based on the sequences of all 11 gene segments and used the notations Gx-P[x]-Ix-Rx-Cx-Mx-Ax-Nx-Tx-Ex-Hx for the genes VP7, VP4, VP6, VP1-VP3, NSP1-NSP5, respectively ( 3 ). (cdc.gov)
  • BLAST analysis of sequences deposited in GenBank indicated that the 2011729115 NSP2 gene was 100% identical to published RotaTeq NSP2 gene sequences and clustered with the 5 RotaTeq NSP2 sequences in phylogenetic analysis ( Figure ). (cdc.gov)
  • Since mutations at splicing donor sites of the transcripts reduce CSR,21),22) not only transcription but also splicing of transcripts appears to be important, which gives rise to germline transcripts comprising the I and CH exon sequences. (roma2024.com)
  • A stretch of DNA sequences located between genes. (gene.vision)
  • All catalase mutants are viable under standard culture conditions and recessive lethal mutations within the 75Cl-F1 interval have been shown not to affect catalase activity. (lookformedical.com)
  • Activation of CLV3 in the OC is prevented by the action of WUS in conjunction with the GRAS-transcription regulators HAIRY MERISTEMs (HAMs) 4 , 5 . (nature.com)
  • Acute lymphoblastic leukemia emerges when a single lymphoblast gains many mutations to genes that affect blood cell development and proliferation. (wikipedia.org)
  • WUS is a homeodomain transcription factor (TF) produced in the organizing center (OC) domain of apical meristems and is transported via plasmodesmata into the apical domain (called central zone, CZ) to promote proliferation of stem cells 3 . (nature.com)
  • It is unclear whether intraclonal V gene diversification by somatic hypermutation, which is strictly dependent on the enzyme activation induced cytidine deaminase (AID), is restricted to the early phase of lymphoma clone expansion and later silenced, or whether it remains active throughout malignant proliferation. (bmj.com)
  • Using five cosmid probes that contain the entire gene, we found 8/89 microdeletions of which 4/8 were 5′ or interstitial. (bmj.com)
  • It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a variant of Saethre-Chotzen syndrome. (medlineplus.gov)
  • At least 85 mutations in the FUS gene have been found to cause amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an inability to control movement. (medlineplus.gov)
  • Puel et al found that the 110_111insC NEMO mutation is the most upstream premature translation termination codon, but it results in a pure immunodeficiency syndrome because a Kozakian methionine codon reinitiates translation. (medscape.com)
  • Researchers found a huge epigenetic rearrangement in the patients' lung cells. (embl.org)
  • We found that the distributions and frequencies of types of OspC genes differed between populations of B. burgdorferi in the Northeast, the Midwest, and California. (cdc.gov)
  • Reverse sequence analysis showed that the MLLT1 gene was fused to the 16p11.2 region. (cancerindex.org)
  • A cell transmits to its progeny the activity level of many of its genes, not just their sequence. (medecinesciences.org)
  • Just like the sequence may vary through a mutation, the gene activity level may change through an « epimutation » (an epigenetic modification) which is heritable and does not entail any concomitant genetic alteration. (medecinesciences.org)
  • Environmental risk factors are also needed to help create enough genetic mutations to cause disease. (wikipedia.org)
  • Cooperative activity of GR with other transcription factors and a plethora of coregulators contribute to the tissue- and context-specific response toward the endogenous and pharmacological glucocorticoids (GCs). (uni-ulm.de)