• Single nucleotide polymorphisms (SNPs) of NER pathway key genes, altering mRNA expression or protein activity, can be significantly associated with response to chemotherapy, toxicities, tumor relapse or risk of developing cancer. (unisi.it)
  • While CNVs usually cover large DNA sequence variations, single nucleotide polymorphisms or SNPs are random, single base substitutions found throughout the genome. (jove.com)
  • Variations in toxicity and response to therapy are observed among patients despite similar clinicopathologic characteristics which are attributed to single nucleotide polymorphisms (SNPs). (researchsquare.com)
  • So, the aim of this review was to investigate the effect of single nucleotide polymorphisms (SNPs) on response rate and toxicity in HNSCCs. (researchsquare.com)
  • Several studies have suggested that single nucleotide polymorphisms (SNPs) related to vitamin D metabolism may affect CRC carcinogenesis and survival. (easp.es)
  • The aim of this study was to evaluate the influence of 13 SNPs involved in the vitamin D metabolic pathway on CRC survival. (easp.es)
  • The authors have shown that single-nucleotide polymorphisms (SNPs) in the IGF pathway are related to risk of mammographically dense breasts and that the relation of mammographic density to increased breast cancer risk is independent of circulating hormone levels. (medscape.com)
  • At least 28 genes are involved in the nucleotide excision repair pathway, which is involved in protection against UV-induced DNA damage. (medscape.com)
  • This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. (nih.gov)
  • Guanine nucleotide exchange factors (GEFs) are proteins or protein domains that activate monomeric GTPases by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP). (wikipedia.org)
  • Guanine nucleotide exchange factors (GEFs) are proteins or protein domains involved in the activation of small GTPases. (wikipedia.org)
  • However, there are some similarities in how different GEFs alter the conformation of the G protein nucleotide-binding site. (wikipedia.org)
  • Nucleotide excision repair relies on specific protein complexes to recognize damaged regions of DNA and flag them for removal and repair. (jove.com)
  • The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. (nih.gov)
  • Evidence suggests that cNMP pathways, including cAMP/cGMP, cAMP response element binding protein (CREB), and Protein kinase A (PKA), play a role in the physiopathology of anxiety and depression disorders. (bvsalud.org)
  • CXCL16/CXCR6 pathway-related protein expression, P2X7R protein expression and the expression of monocyte chemotactic protein-1 (MCP-1), tumour necrosis factor-α (TNF-α), and CD68 were detected by immunohistochemical and immunofluorescence staining. (medsci.org)
  • This gene provides instructions for making a protein called guanine nucleotide-binding protein G(q) subunit alpha (Gαq). (medlineplus.gov)
  • The Gαq protein is part of a group of proteins (complex) that regulates signaling pathways to help control the development and function of blood vessels. (medlineplus.gov)
  • As a result, the altered Gαq protein cannot play its part in regulating signaling pathways, resulting in abnormally increased signaling. (medlineplus.gov)
  • We found that several genes also confer high levels of sensitivity to mAMSA including strains with mutations in HPR5, a helicase involved in funneling DNA lesion into recombination-repair pathways, ASF1, a chromatin assembly factor that is required for gene silencing, and CTF4, a DNA polymerase alpha binding protein important for genome stability. (aacrjournals.org)
  • In addition to its role in glucose metabolism, this pathway also regulates the redirection of free amino acids to protein synthesis via the mTOR-signaling pathway. (hindawi.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • Oryza sativa Japonica Group guanine nucleotide-binding protein subunit beta-like protein A (LOC4324115), mRNA. (genscript.com)
  • This type of damage can be fixed by a process called nucleotide excision repair. (jove.com)
  • Damaged DNA can be detected and repaired in a process called nucleotide excision repair (NER). (jove.com)
  • The triphosphate nucleotides UTP, GTP, and CTP, and the adenine nucleotide ADP, exerted a similar voltage-dependent inhibition of VRAC currents at submillimolar concentrations, which could also be described with this model. (silverchair.com)
  • Bioactive compound metabolism can activate key pathways and yield pharmacological outcomes. (bvsalud.org)
  • The immense increase in the intracellular phosphorylated intermediate compounds of glycolysis concurrently inhibits rephosphorylation of adenine nucleotides, activating the nucleic acid degradation pathway and resulting in increased uric acid, the end product. (medscape.com)
  • Patients' tumors harbored FGFR1 or FGFR2 amplification (n = 20), FGFR2 or FGFR3 single-nucleotide variants (n = 19), or FGFR1 or FGFR3 fusions (n = 9). (nih.gov)
  • and laboratory-based functional assays to validate and characterize candidate functional/causal variants, gene targets, and disease pathways. (mskcc.org)
  • Transcriptome analysis has been used in autism spectrum disorder (ASD) to unravel common pathogenic pathways based on the assumption that distinct rare genetic variants or epigenetic modifications affect common biological pathways. (biomedcentral.com)
  • Our results indicate that the contrast sensitivity rhythm is modulated by D4Rs via a signaling pathway that involves NPAS2-mediated circadian regulation of Adcy1 . (jneurosci.org)
  • These data suggest that GSP inhibits inflammatory responses in HSCs by inactivating the NF-κB signaling pathway via MAP kinases. (spandidos-publications.com)
  • Its formation is a genetically determined, programmed cell death which is characterized by the activation of metabolic pathways which lead to the formation of phenolic heartwood extractives. (mpg.de)
  • This method may be used for rapid screening to detect adduct formation and to measure differences in DNA damage caused by variations in metabolic pathways. (cdc.gov)
  • Our results evidenced, for the first time, the correlation between a specific genotype profile of ERCC genes and proficiency of the NER pathway in STS. (unisi.it)
  • Cyclic nucleotide monophosphates (cNMPs) like cyclic adenosine monophosphate (cAMP), cyclic guanosine monophosphate (cGMP), cyclic uridine monophosphate (cUMP), and cyclic cytidine monophosphate (cCMP) regulate the transcription of genes involved in neurotransmitters and neurological functions. (bvsalud.org)
  • With numerous illustrations and tables, each of the nearly 300 sections of the Guide describes genes involved in a specific pathway, process, or structure from the molecular and cellular levels to developmental and physiological processes. (cshlpress.com)
  • These syndromes arise from mutations of genes critical for nucleotide-excision repair and RNA transcription. (medscape.com)
  • Cockayne syndrome group A or B ( CSA or CSB ) genes are required for transcription-coupled repair, a subpathway of nucleotide-excision repair. (medscape.com)
  • Pharmacological activation of the STING (stimulator of interferon genes)-controlled innate immune pathway is a promising therapeutic strategy for cancer. (rcsb.org)
  • Single nucleotide polymorphism in sugar pathway and disease resistance genes in sugarcane. (ncbs.res.in)
  • Oxidative pentose phosphate pathway and pyridine nucleotides in relation to heartwood formation in Robinia pseudoacacia L. (mpg.de)
  • In the present paper we report on the key position of the oxidative pentose phosphate pathway (OPP) for this process. (mpg.de)
  • Previous study revealed that the protective effect of TIGAR in cell survival is mediated through the increase in PPP (pentose phosphate pathway) flux. (nature.com)
  • Small GTPases act as molecular switches in intracellular signaling pathways and have many downstream targets. (wikipedia.org)
  • In the present study, in a cohort of STS patients, we performed DNA extraction and genotyping by SNP assay, RNA extraction and quantitative real-time reverse transcription PCR (qPCR), a molecular dynamics simulation in order to characterize the NER pathway in STS. (unisi.it)
  • This review focuses on the molecular mechanisms of bioactive compounds from plants and mushrooms in modulating cNMP pathways. (bvsalud.org)
  • Microarray technologies provide analysis of tens of thousands of molecules for a variety of assays, including drug binding, molecular interactions, enzyme activity and pathway identification. (bccresearch.com)
  • Our functional analysis revealed that the molecular signature of En2 -/- cerebellum and hippocampus shares convergent pathological pathways with ASD, including abnormal synaptic transmission, altered developmental processes and increased immune response. (biomedcentral.com)
  • A consequence of these increased enzyme activities is a shift in the pyridine nucleotide pool towards NADP + NADPH at the expense of NAD + NADH. (mpg.de)
  • Another enzyme, DNA polymerase fills the gap with new nucleotides. (jove.com)
  • DNA polymerase fills the gap with new nucleotides, and then the DNA ligase enzyme seals the edges between the new and old DNA. (jove.com)
  • This bioactive nucleotide is an intermediate in the biosynthesis of nicotinamide adenine dinucleotide or NAD+. (articlecity.com)
  • Lipids, amino acids, and nucleotides necessary for the biosynthesis of the daughter cells are mostly provided by intermediate metabolites of these pathways. (hindawi.com)
  • Purines may be synthesized de novo or recycled by a salvage pathway from normal catabolism. (msdmanuals.com)
  • Knockdown of FRAT1 inhibits hypoxia-induced epithelial-to-mesenchymal transition via suppression of the Wnt/β-catenin pathway in hepatocellular carcinoma cells. (nih.gov)
  • Modulating cyclic nucleotides pathways by bioactive compounds in combatting anxiety and depression disorders. (bvsalud.org)
  • Solovey and Primorye sequences shared 84% nucleotide identity with the prototype Hantaan 76-118. (cdc.gov)
  • The phosphopentose pathway (PPP), which converts glucose-6-phosphate to ribose-5-phosphate for synthesis of nucleotides and NADPH to reduce DNA damage caused by ROS was reported to be activated in DDR 2 . (nature.com)
  • We observed a severe deregulation of the NER pathway and we describe for the first time the effect of SNP rs1047768 in the ERCC5 structure, suggesting a role in modulating single-stranded DNA (ssDNA) binding. (unisi.it)
  • Genomic variations in a population can arise due to single nucleotide changes in the DNA or structural changes to chromosomes. (jove.com)
  • These variations can be a single nucleotide or a larger chromosomal variation. (jove.com)
  • The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1% of the population. (jove.com)
  • If sequencing results were available, evidence of transmission was defined as ≤1 single-nucleotide polymorphism (SNP). (cdc.gov)
  • The evolution pathways that led to the hyper-mutation clusters in single human leukocyte antigen (HLA) molecules were identified. (elifesciences.org)
  • Single nucleotide vitamin D receptor polymorphisms (FokI, BsmI, ApaI, and TaqI) in the pathogenesis of prematurity complications. (cdc.gov)
  • The Cdk5-AMT signal pathway involved in regulation of DDR by TIGAR defines a new role of TIGAR in cancer cell survival and it suggests that TIGAR may be a therapeutic target for cancers. (nature.com)
  • It has been hypothesized that inactivation of the RASSF1A tumor suppressor facilitates K-RAS-mediated transformation by uncoupling it from apoptotic pathways such as the Hippo pathway. (cancerindex.org)
  • This report analyzes the cancer profiling and pathways market: technologies market, tools market, and application market (diagnosis, drug development and discovery). (bccresearch.com)
  • Thus, GEFs both destabilize the GTPase interaction with GDP and stabilize the nucleotide-free GTPase until a GTP molecule binds to it. (wikipedia.org)
  • This study aimed to determine the effects of the CXC chemokine ligand 16 (CXCL16)/CXC chemokine receptor 6 (CXCR6) pathway on cholesterol accumulation in the radial arteries of end-stage renal disease (ESRD) patients with concomitant microinflammation and to further investigate the potential effects of the purinergic receptor P2X ligand-gated ion channel 7 (P2X7R). (medsci.org)
  • In humans, mutations in the NER pathway can cause diseases such as xeroderma pigmentosum (XP), which is associated with a 2000-fold increase in the incidence of skin cancer. (jove.com)
  • Zinc helps to enhance the interferon type 1 response to the virus and participates in many regulatory pathways. (frontiersin.org)
  • These results indicate the utility of genomic approaches using model organisms to identifying pathways for sensitivity to chemotherapeutic agents. (aacrjournals.org)
  • Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes. (cancerindex.org)
  • To identify targetable mechanisms and pathways underlying the initiation and progression of SAID. (lu.se)
  • Here we report the identification of MSA-2, an orally available non-nucleotide human STING agonist. (rcsb.org)
  • For this reason, it becomes clear that there might not be any biochemical reactions taking place in the molecules' pathway. (articlecity.com)
  • These observations have several implications for the current understanding of the NER pathway. (st-andrews.ac.uk)
  • The nucleotide excision repair (NER) system is the main defense mechanism for repairing DNA damage caused by carcinogens and chemotherapy drugs. (unisi.it)