• Paraffin-embedded tumor samples from diagnostic biopsies, from tumor en bloc resection tissue after neoadjuvant chemotherapy, and samples from metastases were examined in search of point mutations in H, K, and N-ras genes at codons 12 and 61 by means of polymerase chain reaction (PCR), slot-blotting, and radioactive labeled specific DNA probes. (cun.es)
  • No point mutations activating these genes were found. (cun.es)
  • These findings suggest that the activation by point mutations at codons 12 and 61 of the H, K, and N-ras genes does not play a role in the pathogenesis of human osteosarcoma. (cun.es)
  • Since no point mutations in codons 12 and 61 were detected, it was not possible to establish any correlation between the ras genes and clinical or histologic findings. (cun.es)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Mutations which change amino acid residues 12, 13 or 61 activate the potential of N-ras to transform cultured cells and are implicated in a variety of human tumors e.g. melanoma. (wikipedia.org)
  • Genetic predisposition and mutations in the CDKN2A (p16INK4a) gene are important in the development of a subset of dysplastic (atypical, Clark) melanocytic nevi in patients with familial atypical multiple mole syndrome. (medscape.com)
  • Antiphospholipid syndrome: Complement activation, complement gene mutations, and therapeutic implications. (medscape.com)
  • Complement activity and complement regulatory gene mutations are associated with thrombosis in APS and CAPS. (medscape.com)
  • Mutations of the BRAF gene can cause certain inherited diseases and birth defects. (news-medical.net)
  • This work generated a comprehensive atlas of both co-occurring and mutually exclusive mutations among RAS and other genes at an unprecedented resolution. (hopkinsmedicine.org)
  • When treating patients who have RAS-mutant tumors, clinicians must consider clinical outcomes and the tumor's aggressiveness as well as co-mutations and patient characteristics such as gender, racial background and age, Anagnostou says. (hopkinsmedicine.org)
  • Our study shows that you need to consider who the host is and what the genetic makeup is of the tumor, because RAS-mutant tumors with different co-mutations have completely different profiles and clinical behavior. (hopkinsmedicine.org)
  • They first looked at the distribution and heterogeneity, or variations, of mutant RAS across cancer types and co-occurring mutations. (hopkinsmedicine.org)
  • Prevalence of the RAS mutations varied among cancer types - 74% in pancreatic cancers, 43.5% in colorectal cancers, 29.7% in non-small cell lung cancers, 25.3% in melanoma, 20.9% in cancer of unknown primary origin, 5.9% in precancerous blood and bone marrow diseases (myelodysplastic/myeloproliferative syndrome), and 1.5% in central nervous system tumors. (hopkinsmedicine.org)
  • At least 13 mutations in the MAP2K1 gene have been identified in people with cardiofaciocutaneous syndrome. (medlineplus.gov)
  • The MAP2K1 gene mutations that cause cardiofaciocutaneous syndrome are germline mutations, which means that they are present in cells throughout the body. (medlineplus.gov)
  • The mutations lead to the production of a version of the protein that is overactive, which increases RAS/MAPK signaling in bone tissue. (medlineplus.gov)
  • It is unclear why the E102G mutation causes Noonan syndrome with multiple lentigines and other germline mutations in the MAP2K1 gene cause different disorders, such as cardiofaciocutaneous syndrome (described above). (medlineplus.gov)
  • Mutations in the MAP2K1 gene have also been found in several forms of cancer. (medlineplus.gov)
  • Like the mutations that cause melorheostosis (described above), cancer-associated mutations in this gene are somatic. (medlineplus.gov)
  • Somatic mutations in the MAP2K1 gene have been reported in several forms of blood cell cancer (leukemia and lymphoma), lung cancer , and a form of skin cancer called melanoma . (medlineplus.gov)
  • In the last few years, it has become clear that activation events associated with FGFR-3 can be found associated with 40%-60% of low-grade, low-stage bladder tumors whilst p53 mutations are linked to a more aggressive phenotype progressing via the CIS pathway. (centerwatch.com)
  • Mutations found in the c-H-ras-1 gene can straddle both of these groups. (centerwatch.com)
  • Identification of mutations contributing to aberrant activation of signaling cascades in ATC may provide novel opportunities for targeted therapy. (uni-koeln.de)
  • In 17/30 ATC (54 %) mutations were found in two or more genes. (uni-koeln.de)
  • ALK mutations were detected in 20 % of ATC and were more frequent than RAS or BRAF mutations. (uni-koeln.de)
  • These sequencing data from 30 ATC samples demonstrate the accumulation of genetic alterations in ATC because in 90 % of samples mutations were already found in the investigated nine genes alone. (uni-koeln.de)
  • Mutations were found with high prevalence in established tumor suppressor and oncogenes in ATC, such as TP53 and H/K/NRAS, but also, although less frequent, in genes that may harbor the potential for targeted treatment in a subset of ATC patients, such as ALK and NF1. (uni-koeln.de)
  • In humans, mutations affecting the genes of this family are associated with specific diseases. (sdbonline.org)
  • Activating mutations in Ras genes are found in 33% of human cancers, with Ras well recognized as the most commonly mutated oncogene in human cancer. (aacrjournals.org)
  • Mutations in Ras associated with cancer promote cellular activation by populating the active state of Ras, most frequently by impairing the action of proteins that downregulate its activity. (aacrjournals.org)
  • The MAP kinase pathway may be activated via several different routes, including upstream growth factor receptor tyrosine kinases and downstream mutations in pathway gene components. (mycancergenome.org)
  • Hereditary multiple exostoses are linked to the mutations of different exostoses genes located on chromosome 8, 11, and 19. (bvsalud.org)
  • B-Raf is a protein encoded by the BRAF gene and is involved in the RAS/MAPK pathway, which regulates cellular growth and division. (news-medical.net)
  • RAF genes encode serine and threonine kinase proteins downstream of Ras in the pathway. (news-medical.net)
  • This protein is part of a signaling pathway called the RAS/MAPK pathway, which transmits chemical signals from outside the cell to the cell's nucleus. (medlineplus.gov)
  • The genetic changes abnormally activate the protein, which disrupts the tightly regulated RAS/MAPK signaling pathway in many types of cells. (medlineplus.gov)
  • This change likely results in increased activation of the RAS/MAPK signaling pathway in cells throughout the body. (medlineplus.gov)
  • Ras activated by this mechanism drives the PI3K pathway to initiate expression of cell growth genes. (biolegend.com)
  • FLT3 (FMS-related tyrosine kinase 3) located on chromosome 13q12.2 encodes a receptor tyrosine kinase (RTK) that activates the Ras and PI3 kinase pathway leading to the increased proliferation and inhibition of apoptosis in hemopoietic progenitor cells [ 7 ]. (hindawi.com)
  • Prior data suggested a deregulation of the retinoic acid (RA) signaling pathway in high-risk WT, but its mode of action remained unclear. (uni-wuerzburg.de)
  • Reduced RA pathway activity and MYCN overexpression were found in high risk tumors as opposed to tumors with low/ intermediate risk, suggesting a beneficial impact of RA especially on advanced WT. (uni-wuerzburg.de)
  • The genes BRAF, KRAS, NRAS, HRAS, and CRKL on this pathway most frequently harbor alterations that are inclusion eligibility criteria for clinical trials. (mycancergenome.org)
  • We show that maximal growth is achieved when pathway activation is a more or less steeply graded function of the nutrient concentration. (lu.se)
  • The purpose of this study was to assess the extent of involvement of ras oncogenes in osteosarcoma. (cun.es)
  • [ 12 ] Genetic alterations in dysplastic (atypical, Clark) melanocytic nevi appear complex and include loss of tumor suppressor genes and altered function of oncogenes, housekeeping genes, growth factors, and extracellular matrix proteins. (medscape.com)
  • The review highlights the discovery of oncogenes and suppressor tumor genes, underlining the crucial role of these achievements in cancer diagnosis and therapies. (jcancer.org)
  • Without doubt, the first human transforming gene, and more broadly, oncogenes and anti-oncogenes, had been previously theorized by Theodor Boveri. (jcancer.org)
  • The activation of oncogenes, too, can trigger senescence. (massgenomics.org)
  • The guanine nucleotide exchange factor Sos (Son-of-sevenless) is a complex multidomain protein that activates the small GTPase Ras (H-Ras, K-Ras, N-Ras, but not functionally distinct R-Ras) in response to receptor tyrosine kinase stimulation. (novusbio.com)
  • GTP-bound Ras activates Raf to trigger a phosphorylation cascade involving mitogen-activated protein kinases (MEKs). (biolegend.com)
  • This ultimately results in the translocation of ERK to the nucleus where it phosphorylates and activates a number of transcription factors like Elk1, initiating expression of genes that promote cell survival and growth. (biolegend.com)
  • To determine the mechanism by which ubiquitination activates Ras, we conducted NMR, modeling, biochemical and biological studies of monoubiquitinated H-Ras and K-Ras. (aacrjournals.org)
  • 2. Site-Specific Monoubiquitination Activates Ras by Impeding GTPase Activating Protein Function. (aacrjournals.org)
  • Ultimately, ERK (MAPK1) activation activates gene transcription that regulates cell growth and survival. (mycancergenome.org)
  • Previous reports indicate that the mechanisms of DN involve a multifactorial interaction of metabolic and hemodynamic factors such as high blood glucose, advanced glycation end-products (AGEs), and the renin-angiotensin system (RAS). (hindawi.com)
  • Usage information: Gene expression of the renin-angiotensin system in human tissues. (jci.org)
  • Gene expression of the renin-angiotensin system in human tissues. (jci.org)
  • Activation of tissue-specific gene expression of the components of the renin-angiotensin system (RAS) in humans may play an important role in cardiovascular regulation and pathophysiology. (jci.org)
  • We have recently shown that tumor necrosis factor (TNF) α induces caspase-dependent and -independent JNK activation and ROS accumulation in cellular FLICE-inhibitory protein (c-Flip) −/− murine embryonic fibroblasts (MEFs). (nature.com)
  • Furthermore, TNF α and Fas induced the cleavage of mitogen-activated protein kinase/ERK kinase kinase (MEKK)1, resulting in generation of a constitutive active form of MEKK1 leading to JNK activation in c-FLIP knockdown cells. (nature.com)
  • They further link to the activation of protein kinase C- (PKC-) induced generation of reactive oxygen species (ROS) [ 6 , 7 ], which further mediates the activation of downstream transcription factor nuclear factor kappa-light-chain enhancer of activated B cells (NF- κ B). Thus, the main treatments of DN refer to modulate glycemic and blood pressure through insulin and RAS inhibitors. (hindawi.com)
  • Inhibition of the kinase domain is halted through binding of the Ras-binding domain, or residues 155-227 of the protein, to the Ras-GTP effector domain. (news-medical.net)
  • The MAP2K1 gene provides instructions for making a protein known as MEK1 protein kinase. (medlineplus.gov)
  • The identified MAP2K1 gene mutation is a germline mutation that replaces the amino acid glutamic acid with the amino acid glycine at position 102 (written as Glu102Gly or E102G) in MEK1 protein kinase. (medlineplus.gov)
  • METHODS/RESULTS: Using permanent and primary human bronchial epithelial (HBE) cells at air-liquid interface, we show that DEPs activate the human MMP-1 gene via RAS and subsequent activation of RAF-MEK-ERK1/2 mitogen-activated protein kinase signaling, which can be scaffolded by beta-arrestins. (duke.edu)
  • This causes adaptor protein GRB2 to recruit SOS, a guanine nucleotide exchange factor, which then facilitates binding of GTP to Ras. (biolegend.com)
  • Antigen binding to the T cell receptor (TCR) can also lead to Ras signaling through activation of phospholipase C (PLC) and protein kinase C (PKC). (biolegend.com)
  • The lilli gene encodes a nuclear protein related to the AF4/FMR2 family. (sdbonline.org)
  • These findings represent a paradigm shift in our understanding of the role monoubiquitination may play in protein regulation as well as new mechanisms for regulation of Ras activity. (aacrjournals.org)
  • These include genotoxicity, DNA damage, lipid peroxidation, activation of transcription factors activator protein-1 (AP-1) or nuclear factor kappa B (NF-kappaB), and p53 or k-ras gene alterations. (cdc.gov)
  • Description of the protein which includes the UniProt Function and the NCBI Gene Summary. (nih.gov)
  • Genetic polymorphism in Methylenetetrahydrofolate Reductase chloride transport protein 6 (MTHFR CLCN6) gene is associated with keratinocyte skin cancer in a cohort of renal transplant recipients. (ucsf.edu)
  • RQ-PCR and Western blot analysis confirmed overexpression of IRS4 at the gene and protein level. (atlasgeneticsoncology.org)
  • The protein is also required for normal Ras activation in many of these pathways. (lu.se)
  • Using a lentiviral vector containing either H-Ras oncogene and a hairpin targeting p53 or both tumor suppressor genes, NF-1 and p53, Dr. Friedmann-Morvinski can induce the formation of a glioma tumor in mice injected in the brain. (genengnews.com)
  • Activation of the complement system occurs through the classical (CP), lectin (LP), or alternative (AP) pathways. (jrheum.org)
  • In this review, we focus on the impact of ncRNA post-transcriptional regulatory mechanisms, especially those of microRNAs and lncRNAs, in RA signalling pathways during differentiation and disease. (mdpi.com)
  • 1995). At the time of publication there was limited knowledge of molecular changes underlying the different clinical pathways outlined above and our assay was based on one gene (c-H-ras-1). (centerwatch.com)
  • In particular, we will discuss the modifications in intrinsic and extrinsic apoptotic pathways caused by proteins encoded by HPV early genes. (mdpi.com)
  • Accordingly, we discovered that re-activation of these signaling pathways in AML are a major mechanism that confer resistance to Quizartinib (AC220). (coriell.org)
  • Ras proteins are critical regulators of multiple pathways involved in cellular growth control. (aacrjournals.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)
  • Transcriptional regulation of the genes in metabolic pathways is a highly successful strategy, which is virtually universal in microorganisms. (lu.se)
  • A number of studies have explored how regulation of generally, and at least to a first approximation, it is obvious that metabolic pathways affects the growth rate of microorganisms, gene regulation only is useful if the environmental conditions vary both in the steady state and in response to changes in the local with time. (lu.se)
  • The N-ras proto-oncogene is a member of the Ras gene family. (wikipedia.org)
  • However, since H-Ras is hardly mutated in human gliomas, this oncogene only serves as a surrogate for EGFR, which is overexpressed in gliomas (EGFR amplification leads to Ras activation, hence Ras is a good surrogate for EGFR). (genengnews.com)
  • The oncogene activation of FLT3 in hematological malignancies is mainly manifested through internal tandem duplication which may result in a poor prognosis [ 8 ]. (hindawi.com)
  • Introduction of either oncogene did not substantially impact cellular growth in vitro (Supplementary Table 1), but greatly enhances tumorigenicity in vivo, as evident by faster allograft growth, with the effect of Ras yet stronger than that of Akt (Degenhardt and White, 2006). (harvard.edu)
  • The order of nearby genes is as follows: cen-CD2-NGFB-NRAS-tel. The mammalian Ras gene family consists of the Harvey and Kirsten Ras genes (HRAS and KRAS), an inactive pseudogene of each (c-Hras2 and c-Kras1) and the N-Ras gene. (wikipedia.org)
  • Their four-year study of the RAS family - including the KRAS , NRAS and HRAS genes that are mutated in approximately one-third of all human cancers - found that the frequency of mutant RAS genes differs among various tumor types, age, sex and racial groups, and co-mutation patterns among RAS genes and other genes potentially can result in different clinical outcomes or identify new areas for therapeutic intervention. (hopkinsmedicine.org)
  • They studied the cancer type-specific prevalence of KRAS , NRAS and HRAS mutant alleles (alternative forms of a gene) at codons (units of genetic code) 12, 13 and 61 in the overall population and stratified their results by patient age, race and gender. (hopkinsmedicine.org)
  • Twenty-eight ATC harbored a mutation in at least one of the studied genes: TP53 (18/30), NF1 (11/30), ALK (6/30), NRAS (4/30), ATRX (3/30), BRAF (2/30), HRAS (2/30), KRAS (1/30). (uni-koeln.de)
  • pendent of those associated with cretory ducts, columnar epithelia the KRAS gene is more frequent- other key mechanistic characteris- lining the gastrointestinal tract and ly mutated in human cancer, which tics of IARC Group 1 carcinogens. (who.int)
  • RAS/MAPK signaling helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). (medlineplus.gov)
  • Studies suggest that increased RAS/MAPK signaling also stimulates excess bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. (medlineplus.gov)
  • SPRY3 and GSK3 are key negative regulators of Ras/MAPK and Wnt signaling, respectively. (coriell.org)
  • Reactive oxygen species promote TNF α -induced death and sustained JNK activation by inhibiting MAP kinase phosphatases. (nature.com)
  • One is in the activation segment of the kinase domain. (news-medical.net)
  • In order to become active, the CR3 kinase domain must be converted to its active form by phosphorylation of the activation loop. (news-medical.net)
  • Activation of the receptor tyrosine kinase triggers downstream phosphorylation and activation of (H-/K-/N-) RAS, (A-/B-/C-) RAF, MEK1/2 (MAP2K1), ERK1/2 (MAPK1). (mycancergenome.org)
  • While the observation that NHR-67 forms punctae associated with transcriptional repressors in non-invasive cells is intriguing, the work does not yet established a clear link between the formation and dissolution of NHR-67 condensates with the activation of downstream genes that NHR-67 is actively repressing. (elifesciences.org)
  • It has recently been shown that K-Ras monoubiquitination, upregulates its activity by populating the active GTP-bound state, enhances interactions with certain downstream effectors and promotes Ras-mediated tumorigenesis [1]. (aacrjournals.org)
  • 1. Ubiquitination of K-Ras enhances activation and facilitates binding to select downstream effectors. (aacrjournals.org)
  • The B-Raf gene has two hotspots for mutation. (news-medical.net)
  • Led by Robert Scharpf, Ph.D. , associate professor of oncology at the Johns Hopkins Kimmel Cancer Center, the team developed novel analytical frameworks to assess the prevalence and co-mutation patterns of RAS genes in the AACR Project GENIE registry. (hopkinsmedicine.org)
  • At least one mutation in the MAP2K1 gene has been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). (medlineplus.gov)
  • 2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)
  • We find that this activating mutation introduces a redox active cysteine that renders Ras G12C sensitive to thiol oxidation. (aacrjournals.org)
  • XLH is considered to be a systemic disorder, from mutation of the phosphate-regulating gene homologous to endopeptidases on the X chromosome (PHEX). (medscape.com)
  • Cystic fibrosis (CF) is an autosomal recessive condition caused by the mutation of the cystic fibrosis trans-membrane regulator gene (CFTR) on chromosome 7. (who.int)
  • For example, steroid and thyroid hormones directly bind to nuclear receptors, which induce expression of specific genes. (intechopen.com)
  • In other words, expression of specific genes might have relevance to pathogenesis of diseases. (intechopen.com)
  • Note that activation of these specific genes may not result in identical metabolic consequences to that of other related family members that are frequently mutated in cancer (e.g. (harvard.edu)
  • While changes in specific genes, particularly CYP2C9 and VKORC1 , affect how the body reacts to warfarin, many other factors, including sex, age, weight, diet, and other medications, also play a role in the body's interaction with this drug. (medlineplus.gov)
  • All 11 selected SNPs within candidate genes were verified by polymerase chain reaction (PCR) sequencing. (bmj.com)
  • NF1 inhibits Ras, hence the loss of NF1 results in overexpression of Ras. (genengnews.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)
  • however, studies suggest that there may be alterations in the same set of susceptibility genes in dysplastic (atypical, Clark) melanocytic nevi and cutaneous melanoma. (medscape.com)
  • We have also attempted to verify a series of differentially expressed candidate susceptibility genes to lung tumours in our previous microarray analysis with semiquantitative reverse transcriptase PCR (RT-PCR). (bmj.com)
  • Recent global analyses of gene transcripts revealed that specific transcription factors (TFs) and their networking systems physiologically correspond to the onset of human diseases, including cancer. (intechopen.com)
  • Loss of FMR2 gene transcription causes mental retardation. (sdbonline.org)
  • Perpetual ROS generation can cause specific molecular changes resulting in the activation or inactivation of transcription factors that may alter gene expression leading to cell proliferation, differentiation, and carcinogenesis. (cdc.gov)
  • From these studies, it is evident that ROS signaling is critical for the responses of cytokines, growth factors, and activation or inactivation of transcription factors that promote carcinogenesis. (cdc.gov)
  • May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. (nih.gov)
  • INTRODUCTION broken, which in realistic situations can severly constrain the Transcriptional regulation of effector genes is a highly successful regulatory options. (lu.se)
  • Researchers at the Johns Hopkins Kimmel Cancer Center , three other cancer centers and the Johns Hopkins Bloomberg School of Public Health compiled a comprehensive genetic architecture atlas for mutant RAS genes in human cancers. (hopkinsmedicine.org)
  • This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. (cancerindex.org)
  • Genes deregulated in high risk tumors showed opposite changes upon treatment suggesting a positive effect of retinoids. (uni-wuerzburg.de)
  • A G-LISA assay was used to determine the effects of ginger constituents on Ras homolog gene family member A activation. (nih.gov)
  • 6-Shogaol alone inhibited Ras homolog gene family member A activation. (nih.gov)
  • Various neuropeptides play important roles in the regulation of feeding behavior, including relaxin-3 (RLN3), which stimulates food intake in rats through the activation of the relaxin-family peptide-3 receptor (RXFP3). (jneurosci.org)
  • 3. Differences in the regulation of k-ras and h-ras isoforms by monoubiquitination.Baker R, Wilkerson EM, Sumita K, Isom DG, Sasaki AT, Dohlman HG, Campbell SL.J Biol Chem. (aacrjournals.org)
  • NRAS is an enzyme that in humans is encoded by the NRAS gene. (wikipedia.org)
  • It was the third RAS gene to be discovered, and was named NRAS, for its initial identification in human neuroblastoma cells. (wikipedia.org)
  • Mapping the human amylase gene cluster on the proximal short arm of chromosome 1 using a highly informative (CA)n repeat" (PDF). (wikipedia.org)
  • This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
  • sults: sodium 133 mmol/L, potassium membrane regulator gene ( CFTR ) on He was readmitted 5 more times 3.4 mmol/L, chloride 100 mmol/L and chromosome 7. (who.int)
  • All-trans retinoic acid (RA) is the most active metabolite of vitamin A. Several studies have described a pivotal role for RA signalling in different biological processes such as cell growth and differentiation, embryonic development and organogenesis. (mdpi.com)
  • We have learned that genes in mammalian cells are transcribed into messenger RNAs (mRNAs), which are to be translated into polypeptides (proteins). (intechopen.com)
  • The tumor phenotype in mice takes eight weeks to develop from the H-Ras and shp53 model. (genengnews.com)
  • In this issue, we generally review the mechanisms of cellular senescence in diabetic nephropathy, which involve telomere attrition, DNA damage, epigenetic alterations, mitochondrial dysfunction, loss of Klotho, Wnt/ β -catenin signaling activation, persistent inflammation, and accumulation of uremic toxins. (hindawi.com)
  • The method described here may serve as a highly sensitive tool to quantify alterations in gene expression in man under various pathophysiologic conditions. (jci.org)
  • The study also looked at the impact of paternally expressed genes: IGF2, PEG1, PEG3, DLK1, and DIO3 for transcriptomic and epigenomic alterations of the imprinted genes in fetal tissues. (genengnews.com)
  • The induction of the dedifferentiation occurs only when two hits occur in the same cell: either H-Ras overexpression and loss of p53 or loss of tumor suppressors NF1 and p53. (genengnews.com)
  • c-FLIP regulation of lymphocyte activation and development. (nature.com)
  • Transcriptional regulation of the human MMP-1 promoter was strongly influenced by the presence of the -1607GG polymorphism, present in 60-80% of humans, which led to striking up-regulation of MMP-1 transcriptional activation. (duke.edu)
  • With a minimalist model of metabolism, cell growth and transcriptional regulation in a microorganism, we explore how the interaction between environmental conditions and gene regulation set the growth rate of cells in the phase of exponential growth. (lu.se)
  • A very natural place to study gene detecting and metabolizing lactose, it is known that the overall regulation is in the metabolism of the cell, and then specifically in effect of expressing the lac genes in vain is a drop in the growth rate the regulation of genes that code for enzymes and transporter of as much as 5% [1,6]. (lu.se)
  • Here, the function of regulation is quite clear: expressing energy and carbon, that a number around 0.2% would be the right genes at the right time will enable the cell to make the expected, and that the difference is more or less specific to the lac most of the resources within its reach, by maximizing the uptake operon [7]. (lu.se)
  • The PTPN11 gene encodes SHP-2, a cytoplasmic tyrosine phosphatase that consists of two tandemly arranged SH2 domains at the N-terminus, a catalytic domain, and a C-terminal tail. (lu.se)
  • We carried out an unbiased CRISPR-based screen for genes whose loss confers drug resistance. (coriell.org)
  • DBC1 functions as a coactivator for AR-V7 and is required for the expression of AR-V7 target genes including CDH2, a mesenchymal marker linked to CRPC progression. (cancerindex.org)
  • These Ras genes have GTP/GDP binding and GTPase activity, and their normal function may be as G-like regulatory proteins involved in the normal control of cell growth. (wikipedia.org)
  • Consistent with the results using c-Flip −/− MEFs, we found that TNF α stimulation induced caspase-dependent prolonged JNK activation and ROS accumulation, followed by apoptotic and necrotic cell death in various tumor cells. (nature.com)
  • 2006). The E3 Ubiquitin Ligase Itch Couples JNK Activation to TNF α -induced Cell Death by Inducing c-FLIP(L) Turnover. (nature.com)
  • 4 , 13 Complement plays a crucial role in host defense against foreign bodies by promoting phagocyte-mediated clearance of cell debris through activation of an inflammatory response, opsonization of pathogens, and lysis of susceptible bacteria and cells. (jrheum.org)
  • I am currently a Senior Scientist for Stem Cell Biology and Gene Engineering at the Coriell Institute for Medical Research. (coriell.org)
  • To search for possible modes of action of retinoids as novel therapeutic options, primary tumor cell cultures were treated in vitro with all-trans-RA (ATRA), 9cis-RA, fenretinide and combinations of retinoids and a histone deacetylase (HDAC) inhibitor. (uni-wuerzburg.de)
  • also, the main gene-carrying structure of a prokaryotic cell. (freezingblue.com)
  • Glycolytic reprogramming, the shift from oxidative phosphorylation (OXPHOS) to glycolysis causes inappropriate cell activation and function, resulting in dysfunctional cellular metabolism. (stanford.edu)
  • We further detected the gene expression of proinflammatory cytokines in Mφ and genes related to cell differentiation in MSC during the challenge of cPE.Our results demonstrated that the oxidative phosphorylation of Mφ exposed to cPE was significantly decreased when compared with the control group. (stanford.edu)
  • Gene networks reveal stem-cell state convergence during preneoplasia and progression to malignancy in multistage skin carcinogenesis. (ucsf.edu)
  • H - Ras cell proliferation are also linked with haematopoietic cel s. (who.int)
  • which means one copy of the altered gene in each cell is sufficient to result in warfarin sensitivity. (medlineplus.gov)
  • UK Authorizes Gene Therapy for Blood Disorders in World First Britain has authorized a gene therapy that aims to cure sickle-cell disease and another type of inherited blood disorder for patients aged 12 and over, the country's medical regulator said. (medscape.com)
  • The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. (nih.gov)
  • It is suitable for large-scale sequencing of TRPV1 and functionally related genes. (researchgate.net)
  • The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. (nih.gov)
  • Mice homozygous for a gene trap allele exhibit reduced survival and decreased tumor latency. (jax.org)
  • Jensen Lab generated fractional counting score for the prevalence of this gene in Pubmed articles. (nih.gov)
  • Differential expression of six of seven candidate genes were confirmed. (bmj.com)
  • After analyzing 357 single nucleotide polymorphisms (SNPs) from 83 candidate genes, the authors found that men carrying a GG genotype in the SRD5A1 gene at locus rs472402 had a 55 percent risk reduction in developing high-grade prostate cancer when taking finasteride. (aacr.org)
  • 3 Identification of the genes predisposing to cancer could yield targets for treatment or chemoprevention. (bmj.com)
  • Genes for which associations or other plausible links with cancer have been published were deemed as final candidates. (bmj.com)
  • Identification of the genes predisposing to mouse lung cancer could have considerable implications for diagnosis, treatment, or chemoprevention of lung cancer in humans. (bmj.com)
  • MicroRNAs (miRNAs) serve a role in gene expression, primarily by interacting with messenger RNAs, and may be potential biomarkers for detecting cancer. (spandidos-publications.com)
  • Amazingly, the first human cancer gene was cloned only thirty years ago. (jcancer.org)
  • We will also present our recent work on an oncogenic variant prevalent in lung cancer, K-Ras G12C. (aacrjournals.org)
  • Ras is a GTPase that is anchored to the intracellular side of the plasma membrane through its post-translational lipid modifications. (biolegend.com)
  • 1997. Metabolic activation of aromatic amines by human pancreas. (cdc.gov)
  • Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
  • The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
  • Diesel exhaust particles activate the matrix-metalloproteinase-1 gene in human bronchial epithelia in a beta-arrestin-dependent manner via activation of RAS. (duke.edu)
  • Studies of human tissue RAS expression, however, have been limited by the lack of availability of sufficient amounts of fresh human tissues and a sensitive method for detecting specific mRNAs. (jci.org)
  • Results indicated that all components of the RAS were widely expressed in human organ samples. (jci.org)
  • In order to study changes of gene expression in small tissue samples (e.g., renal biopsies) obtained from patients, we established a competitive PCR assay for quantification of renin, using a 155-basepair deletion mutant of the human renin cDNA as an internal standard. (jci.org)
  • This study should provide the methodological basis for future studies of tissue RAS in human physiology and disease. (jci.org)
  • Translocations between MLL (a human trithorax -related gene) and AF4 or AF5q31 are involved in acute lymphoblastic leukemia (Wittwer, 2001, Tang, 2001 and Su, 2001). (sdbonline.org)
  • Studies of human umbilical vein endothelial cells (HUVEC) and arterial endothelial cells (HAEC) showed that therapeutically relevant concentrations of MTX phosphorylate AMPKα Thr172 , and induce cytoprotective genes including manganese superoxide dismutase (MnSOD) and haem oxygenase-1 (HO-1). (bmj.com)
  • Amy Radunz, a nutritionist from the department of animal sciences at the University of Wisconsin in River Falls, has partnered with molecular biologist Hasan Khatib, an associate professor at University of Wisconsin-Madison, to ask how differences in maternal diet during pregnancy induce gene expression and DNA methylation changes in fetal tissues in sheep. (genengnews.com)
  • Numerous cellular proteins detect DNA damage and induce senescence , a permanent change of state characterized by morphological and gene expression changes. (massgenomics.org)
  • Furthermore, Mφ and MSCs exposed to cPE showed upregulated gene expression levels of glycolytic regulators and Mφ exposed to cPE expressed higher levels of pro-inflammatory cytokines.This study demonstrated the dysfunctional bioenergetic activity of bone marrow-derived Mφ and MSCs exposed to cPE, which could impair the immunoregulatory properties of cells in the bone niche. (stanford.edu)
  • Since RA signalling is highly dose-dependent, a fine-tuning regulatory mechanism is required. (mdpi.com)
  • The study also proposed another possible mechanism of FLT3 genes in leukemogenesis. (hindawi.com)
  • We propose that this mechanism contributes to the protection against cardiovascular events seen in patients with RA treated with MTX. (bmj.com)
  • Gene expression must be appropriately maintained to regulate development, differentiation, and proliferation of cells. (intechopen.com)
  • 6/7 primary cultures tested reduced proliferation, irrespective of prior RA signaling levels. (uni-wuerzburg.de)
  • In vitro testing of primary tumor cultures provided clear evidence of a potential utility of retinoids in Wilms tumor treatment based on the analysis of gene expression, proliferation, differentiation and apoptosis. (uni-wuerzburg.de)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • Imbalances or disturbances in gene expression are sometimes deleterious for living things. (intechopen.com)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Scientists armed with whole genome sequence data can now ask questions about genome structure and organization that impact gene expression. (genengnews.com)
  • Improved access to bioinformatics tools enables scientists to process, manage, and store raw data, annotate sequences to define genes, and quantitate RNA sequence data to get insight into gene expression patterns. (genengnews.com)
  • Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)
  • Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
  • Hundreds of genes were observed with sex-biased differential expression following treatment. (sdbonline.org)
  • These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)
  • Microarray analysis of ATRA treated WT cells revealed differential expression of many genes involved in extracellular matrix formation and osteogenic, neuronal or muscle differentiation. (uni-wuerzburg.de)
  • Real-time qPCR was performed to analyze the gene expression of key enzymes in glycolysis and mitochondrial biogenesis. (stanford.edu)
  • Short interfering RNA mediated beta-arrestin1/2 knockout eliminated formation, subsequent nuclear trafficking of phosphorylated ERK1/2, and resulting MMP-1 transcriptional activation. (duke.edu)
  • These results suggest that transcriptional elongation control is especially important for rapidly expressed genes to support digestion and metabolism, many of which have sex-biased function. (sdbonline.org)
  • With the release of a genome wide SNPs database, it has become feasible to analyse these genetically determined QTLs for genes polymorphic in these strains. (bmj.com)
  • Double minute chromosomes (dmins) are a form of gene amplification presenting as small spherical paired chromatin bodies. (hindawi.com)
  • Some case reports identified MYC or MLL gene amplification performing as dmin in myeloid neoplasms. (hindawi.com)
  • The current study attempts to demonstrate the existence of double minute chromosomes via FLT3 gene amplification in a patient diagnosed with chronic myelomonocytic leukemia (CMML). (hindawi.com)
  • Double minute chromosomes (dmins) are cytogenetic indicators of extrachromosomal gene amplification which usually act as small spherical paired chromatin particles [ 1 ]. (hindawi.com)
  • Here, to our best knowledge, we present the first case of amplification encompassing the FLT3 gene acting as dmin in a patient with chronic myelomonocytic leukemia (CMML). (hindawi.com)
  • the Sos-mediated Ras-activation and Rac activation differ in composition and stability of the formed complex. (novusbio.com)
  • In humans, the wide variety of carcinogens and varying degrees of exposure make identifying the predisposing genes difficult, but in a mouse model, such confounding variables can be controlled. (bmj.com)