• The molecular mechanisms involved in the specific regulation of PDGF alpha R expression are unknown, but transcriptional regulation of the PDGF alpha R gene is most likely to be involved. (nih.gov)
  • Global regulation of DNA molecules containing the gene for sucrose phosphorylase is performed by catabolite repression. (wikipedia.org)
  • Genetic regulation of sucrose phosphorylase is also performed by metabolites. (wikipedia.org)
  • The ASXL1 protein may have an additional role in gene regulation by signaling to molecules to add a methyl group (a process called methylation) to an area near a gene called the promoter region, which controls gene activity. (medlineplus.gov)
  • These ASXL1 gene mutations are described as "loss-of-function" because they reduce the amount of functional ASXL1 protein available, which likely disrupts the regulation of the activity of HOX genes and other genes during development. (medlineplus.gov)
  • Researchers believe that the overactive ASXL1 protein leads to poor regulation of gene activity. (medlineplus.gov)
  • It is unclear how this altered gene regulation plays a role in the development of cancer, but it is likely that overactive genes promote the growth of cancers by allowing abnormal blood cells to grow and divide uncontrollably. (medlineplus.gov)
  • Regulation of gene expression involves post-translational modifications to histones which cause chromatin decondensation and recruit transcription factors at the promoter to initiate transcription. (utexas.edu)
  • Increased acetylation at conserved control elements in the promoter is responsible for the transcriptional up-regulation of the gene following ethanol sedation. (utexas.edu)
  • The AP-1 complex is a transcription factor involved in the regulation of a variety of genes, including those encoding certain growth factors. (bath.ac.uk)
  • the presence of HDAC7 blocked the induction of key genes for macrophage function, such as immune, inflammatory, and defense response, cellular response to infections, positive regulation of cytokines production, and phagocytosis. (eur.nl)
  • Four variants exhibited effects on gene regulation (ATF rs11571537, CDH17 rs2446824 and rs2513789, and TACR1 rs2287231). (cdc.gov)
  • These results demonstrate that many DA-associated genetic variants likely act by modulating gene regulation. (cdc.gov)
  • The aim of this study was to determine the possible genetic regulation of plasma pro-NT. (lu.se)
  • In spite of the importance of this tissue in the quality and production of pollen grains, studies on promoter gene regulation of tapetal expressed genes are very few and there are no reports on specific cis regulatory sequences that control tapetal gene expression. (tamu.edu)
  • Furthermore, the regulation of expression of the VHb gene in response to changes in environmental conditions has also been investigated. (caltech.edu)
  • This has provided insights into mechanisms of microaerobic gene regulation, and has enabled the development of oxygen-dependent expression systems for high-level synthesis of recombinant proteins. (caltech.edu)
  • Furthermore, it was observed that VHb expression is under oxygen-dependent control in E. coli, suggesting that the mechanism of regulation of the gene in Vitreoscilla is also functional in E. coli. (caltech.edu)
  • Mechanisms responsible for oxygen-dependent regulation act at the level of transcription initiation from two overlapping promoters within the region upstream of the VHb gene. (caltech.edu)
  • More than 20 mutations in the ASXL1 gene have been found to cause Bohring-Opitz syndrome, a condition that causes abnormal head size and shape, distinctive facial features, joint abnormalities, intellectual disability, and other signs and symptoms. (medlineplus.gov)
  • Most of the ASXL1 gene mutations that cause Bohring-Opitz syndrome create a premature stop signal in the instructions for making the ASXL1 protein, resulting in either an abnormally short, nonfunctional protein or a complete lack of ASXL1 protein. (medlineplus.gov)
  • Mutations in the ASXL1 gene have been associated with cancerous conditions of blood-forming cells, such as acute myeloid leukemia, chronic myelomonocytic leukemia, and myelodysplastic syndrome. (medlineplus.gov)
  • The ASXL1 gene mutations involved in these cancers are different from the ones that cause Bohring-Opitz syndrome (described above). (medlineplus.gov)
  • In a retrospective comparison of multiple genetic tests, there was no difference between the multi-gene panel test and the limited BRCA1/2 test in the detection of potentially harmful BRCA mutations. (cancernetwork.com)
  • These newer, more comprehensive tests did not increase the rate of detecting genetic variants of uncertain significance-polymorphisms in the BRCA1 or BRCA2 genes for which there is not enough data to conclusively label as deleterious mutations. (cancernetwork.com)
  • The genetic tests currently available mostly use next-generation sequencing to detect these mutations, which can be within exons, introns, and gene promoter regions. (cancernetwork.com)
  • Using the baker's yeast Saccharomyces cerevisiae, Patricia Wittkopp and her colleagues developed a novel way to disentangle the effects of random genetic mutations and natural selection on the evolution of gene expression. (sciencedaily.com)
  • To understand how different genetic mutations impact TDH3 expression, they systematically changed each of the DNA base pairs in a region of the gene known as the promoter, which controls the amount of the gene that is expressed. (sciencedaily.com)
  • They created all of the different possible genetic mutations in this region and measured the change in gene expression caused by each mutation. (sciencedaily.com)
  • Mutations in the 5'-untranslated and/or coding regions were identified that may affect transcription efficiency. (manchester.ac.uk)
  • The majority of the pathogenic variants are nonsense mutations and result in the loss of function of kindlin-1 gene ( 1 ). (spandidos-publications.com)
  • For example, approximately 95% of rifampin-resistant M. tuberculosis strains carry mutations within the rifampin-resistance determining region (RRDR), an 81-bp region encoding codons 507 through 533 of the rpoB gene. (cdc.gov)
  • Molecular genetic tests for detecting drug-resistance are, in general, just a variation of nucleic acid amplification (NAA) tests and can reliably provide information on the presence of mutations associated with drug resistance in 1 to 2 days. (cdc.gov)
  • Kits for detecting mutations associated with rifampin resistance that are commercially available in Europe and elsewhere include line-probe assays (INNO-LiPA® Rif.TB, Innogenetics and GenoType® MTBDR( plus ), Hain LifeScience GmbH) and microarray assays (CombiChip Mycobacteria DR, GENE IN). (cdc.gov)
  • Over 95% of RIF-resistant M. tuberculosi s strains have mutations within the RIF resistance-determining region (RRDR) of the rpoB gene, and several molecular genetic tests to detect RRDR mutations have been developed. (msdmanuals.com)
  • To this end, we screen clinical tumor material for disease-causing mutations using deep sequencing technology and we manipulate genes of interest in cancer model systems to understand the true consequences of mutations. (lu.se)
  • Most high-grade cancers harbor mutations in the TP53 gene together with a massive amount of other mutations and chromosome aberrations. (lu.se)
  • The majority of osteosarcomas harbour mutations in the TP53 gene, either point mutations or structural variations that separate the promoter region from the coding parts of TP53. (lu.se)
  • Cancer is thought to result from the gradual accumulation of genetic mutations in a cell. (who.int)
  • Preliminary results have revealed clones possessing mutations in the panel of 9 driver genes analysed. (who.int)
  • The TCGTGT motif enhances GUS expression in anthers of transgenic plants but only in the context of the TAPNAC promoter proximal region. (tamu.edu)
  • In 10 of 14 tumors investigated the breakpoints on the myc carrying chromosome were clustered in a 1.5 kb region 5' of the intact gene, proximal to the myc promoters. (lu.se)
  • Independent experiments confirmed several target genes, including PLOD2 , HADH , LCOR and REEP1 as non-canonical target genes in various colon cancer cells. (nature.com)
  • Moreover, non-canonical Wnt target genes are regulated via RoR2, Dvl2, ATF2 and ATF4. (nature.com)
  • To connect enhancer regions to likely target genes, the researchers compared patterns of chromatin activity with gene expression across the 9 cell types. (nih.gov)
  • The scientists were then able to piece together enhancer regulatory networks and their target genes. (nih.gov)
  • Pharmacogenetic studies have been also performed in order to evaluate the role of host genetic variants in the prediction of recurrence risk and response to adjuvant treatment with FLs and OXA. (frontiersin.org)
  • PMID 33340618 ] Association between genetic variants of the norepinephrine transporter gene (SLC6A2) and bipolar I disorder. (snpedia.com)
  • The diagnosis of KS is established in patients with typical clinical manifestations and is based on the identification of either biallelic FERMT1 pathogenic variants on molecular genetic testing or suggestive histologic findings and/or immunolabeling on skin biopsy ( 1 ). (spandidos-publications.com)
  • It is somewhat unclear how genetic variants affect a person's sense of smell, because olfactory systems are very difficult to recreate in the research lab. (helix.com)
  • They found hundreds of DNA variants that might explain it, but the two most statistically significant variants were located within the OR2M7 gene, making it a powerful candidate gene. (helix.com)
  • Genetic variants with gene regulatory effects are associated with diisocyanate -induced asthma. (cdc.gov)
  • Objective: The aim of this study was to identify DA-associated functional genetic variants through next-generation sequencing (NGS), bioinformatics, and functional assays. (cdc.gov)
  • Results: NGS detected 130 risk variants associated with DA (3.1 × 10-6 to 6.21 × 10-4), 129 of which were located in noncoding regions. (cdc.gov)
  • The NT gene (NTS) was sequenced for potential functional variants, evaluating its entire genomic and. (lu.se)
  • The NT gene (NTS) was sequenced for potential functional variants, evaluating its entire genomic and potentially regulatory regions, in DNA from 28 individuals, stratified by low and high pro-NT levels. (lu.se)
  • Multiple transcript variants encoding different isoforms have been found for this gene. (nih.gov)
  • UMOD risk variants identified in the above-mentioned GWAS are located in the promoter region of the gene, leading to a theory that they altered UMOD expression. (medscape.com)
  • Studies that assessed the relationship between treatment response and genetic polymorphism of the serotonin transporter gene were eligible for inclusion. (york.ac.uk)
  • Genetic Basis of Olfactory Cognition: Extremely High Level of DNA Sequence Polymorphism in Promoter Regions of the Human Olfactory Receptor Genes Revealed Using the 1000 Genomes Project Dataset. (helix.com)
  • The rs2234762 polymorphism, sited in the NTS gene promoter, was statistically more frequent in the lowest pro-NTS level group. (lu.se)
  • Until recently, Utah-based Myriad Genetics owned a patent on both the BRCA1 and BRCA2 genes, making it the only company or laboratory that could offer BRCA1/2 genetic testing. (cancernetwork.com)
  • Since the court ruling, tests that compete with Myriad's have cropped up, including the next-generation sequencing gene panel tests by Ambry Genetics and BROCA, a 50-gene panel developed by researchers at the University of Washington. (cancernetwork.com)
  • The researchers then surveyed natural yeast strains to see which of the many genetic "recipes" the yeast actually use in the wild. (sciencedaily.com)
  • Microbiological, quantitative gene expression, mRNA half-life and genome data for 11 strains of S. aureus combined with bioinformatic analyses were used to identify correlates of increased MDR EP gene expression. (manchester.ac.uk)
  • The presence of qacA/B and/or increased expression of one to two MDR EP genes were identified in eight strains. (manchester.ac.uk)
  • We screened 218 strains collected in 15 natural populations, and we found that the CG18446 promoter region contains 20 independent roo insertions. (biomedcentral.com)
  • Based on these population analyses, some genes have also been reported to accumulate many TE insertions, such as the 106.5 kb klarsicht , and the 24 kb derailed-2 that were analyzed in 146 strains of the Drosophila Synthetic Population Resource [ 5 , 6 ]. (biomedcentral.com)
  • However, only 39 strains from two natural populations were screened, and thus it is still an open question whether more roo insertions are present in the CG18446 promoter region. (biomedcentral.com)
  • In this work, we looked for TE insertions in the CG18446 promoter region in 218 strains from 15 natural populations in Europe, North America, and Africa. (biomedcentral.com)
  • In addition, based on the analysis of the reference genome, and on the analysis of 177 DGRP strains, we identified 53 promoter regions that could potentially contain multiple roo insertions. (biomedcentral.com)
  • This high-resolution snapshot of genetic profiles of 1710 GC sequences, through a comparison with 2018 data (1479 GC sequences) within the sentinel system, highlights change in proportions and expansion of select GC strains and the associated genetic mechanisms of resistance. (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)
  • In regions where B. burgdorferi is enzootic, sites as small as a few hectares have between 9 and 15 strains ( 4 - 6 ). (cdc.gov)
  • Meiotic DSBs are not randomly distributed within the genome but mostly occur at discrete regions, called hotspots (Baudat et al. (springer.com)
  • Countless such studies across diverse diseases and conditions have implicated specific regions in the genome. (nih.gov)
  • The vast majority of these, however, lie outside of known genes, as 98.5% of our genome doesn't code for proteins. (nih.gov)
  • To gain insights into these non-coding regions, a team of scientists partly supported by NIH's National Human Genome Research Institute (NHGRI) carried out a genome-wide survey of epigenetic marks - factors that change the way genes are read, or expressed, without changing the DNA sequence itself. (nih.gov)
  • 2 3 The HGP demonstrated that a relatively limited number of genes could be identified in the human genome, which substantiated the theory that complex biological processes were regulated on other levels than DNA sequence alone. (bmj.com)
  • In this review we define the field of occupational and environmental health (OEH) research as the study of interactions between the following domains: environment (the exposome), 4 individual (genetic) susceptibility (the (epi)genome), and biological outcomes (the responsome) 5 ( figure 1 ). (bmj.com)
  • A genome-wide analysis of the D. melanogaster genome found that differences in TE density across 50 kb genomic regions was due both to transposition and duplication. (biomedcentral.com)
  • Moreover, we found that the roo insertional cluster in the CG18446 promoter region is unique: no other promoter region in the genome contains a similar number of roo insertions. (biomedcentral.com)
  • Recurrent insertion of transposable elements in specific genomic regions has been described in the Drosophila melanogaster reference genome. (biomedcentral.com)
  • 2016) [ 10 ] other similar clusters of roo insertions in gene promoter regions are present in the genome. (biomedcentral.com)
  • In fact, there are nearly 1,000 genes coding for olfactory proteins-that's more than any other group of genes in the entire genome 1 . (helix.com)
  • Genetic polymorphisms lead to individual differences. (frontiersin.org)
  • This review examined the relationship between clinical response to selective serotonin re-uptake inhibitors in patients with depression and genetic polymorphisms (SERTPR and STin2) in the serotonin transporter gene. (york.ac.uk)
  • Patients were genotyped for a panel of 192 tagging polymorphisms in 34 immune-related genes. (frontiersin.org)
  • PMID 15722184 ] Norepinephrine transporter (NET) promoter and 5'-UTR polymorphisms: association analysis in panic disorder. (snpedia.com)
  • Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene. (snpedia.com)
  • PMID 32339102 ] Age-dependent association of polymorphisms in the promoter and 5'-untranslated region of the norepinephrine transporter gene with generalized anxiety disorder. (snpedia.com)
  • Of these mediators, cytokines play a single nucleotide polymorphisms (SNP) in pro-inflammatory cytokine genes and asthma phenotypes (Che et al. (cdc.gov)
  • Future studies in firefighters have been proposed to evaluate the interaction between exposure to products of combustion and genetic polymorphisms in relation to decline in lung function. (cdc.gov)
  • DNA sequencing indicated that a genomic deletion of 20-kb in the mutant occurred to the gene model HORVU.MOREX.r3.2HG0202650, which encodes a putative SQUAMOSA promoter-binding protein-like (SPL) transcription factor. (usda.gov)
  • This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. (nih.gov)
  • The ci gene in ciD is controlled by the ubiquitous pan promoter and encodes a hybrid Ci protein that carries the N-terminal region of Pan. (uzh.ch)
  • More recently, nine roo insertions were also described in the promoter region of another stress response gene, CG18446 that encodes a nucleic acid binding protein [ 10 ]. (biomedcentral.com)
  • The ASXL1 gene provides instructions for making a protein that is involved in a process known as chromatin remodeling. (medlineplus.gov)
  • Through its role in chromatin remodeling, the ASXL1 protein regulates the expression of many genes, including a group of genes known as HOX genes, which play important roles in development before birth. (medlineplus.gov)
  • The results of this research showed that DNMT enzymes have negative regulatory effects on klotho gene promoter organized as a chromatin structure, and they have an enhancing effect on promoter activity when it is located on plasmid DNA. (tubitak.gov.tr)
  • Scaffold/matrix attachment regions (S/MARs) are DNA elements that serve to compartmentalize the chromatin into structural and functional domains. (researchgate.net)
  • Using the chromatin immunoprecipitation assay followed by real-time quantitative PCR, I show that the slowpoke promoter has a distinct spatio-temporal pattern of histone acetylation following a single sedative dose of ethanol. (utexas.edu)
  • Changes in chromatin state can affect how and when genes are expressed. (nih.gov)
  • Three chromatin states were associated with regulatory regions known as promoters, which sit close to genes and allow them to be read. (nih.gov)
  • Four chromatin states were associated with regions known as enhancers, which act at a distance and are not always easy to tie to particular genes. (nih.gov)
  • Other chromatin states correspond to insulators, which also help regulate active and repressed regions. (nih.gov)
  • We found that, similar to hsp gene promoters, chromatin accessibility could be one of the factors explaining the recurrent insertions of roo elements in CG18446 promoter region. (biomedcentral.com)
  • The accumulation of TEs in the promoter of hsp genes was explained by the chromatin conformation of this particular region, and by selection favoring the retention of TEs because of their effect on gene expression [ 8 ]. (biomedcentral.com)
  • Analysis of 5' promoter deletion mutants revealed that the region from -441 to +118, relative to the transcription initiation site, is sufficient to establish high level promoter activity. (nih.gov)
  • By further cloning and analyzing the promoter region of Cstps1 from Valencia, Fortune and Murcott, a 12-nucleotide deletion at approximately − 270 bp from the Cstps1 coding region was only found in Murcott. (biomedcentral.com)
  • The deficiency of valencene production in some mandarins is probably due to a 12-nucleotide deletion in the promoter region of the Cstps1 , which could be a crucial switch of Cstps1 transcription. (biomedcentral.com)
  • Coincidentally, pan and ci are adjacent genes on the fourth chromosome in a head-to-head orientation. (uzh.ch)
  • The analysis of 50 kb genomic windows identified 23 regions with a high density of TE insertions, most of them located in pericentromeric regions or on chromosome 4 [ 1 ]. (biomedcentral.com)
  • The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)
  • Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)
  • We explored the effect of environmental stress on serotonin transporter gene (SLC6A4) promoter methylation among nurses from high and low work stress environments. (tuni.fi)
  • About one in 400 women have a deleterious mutation in the BRCA1 or BRCA2 genes that confers a risk for breast and ovarian cancers. (cancernetwork.com)
  • According to Kapoor, there have been concerns about the accuracy of the newer multi-gene tests, but the current analysis shows that there is no statistical difference between the panel test and the limited BRCA1/2 test in the detection of a deleterious BRCA mutation. (cancernetwork.com)
  • A total of 14 patients (3.9%) who had panel testing were found to have a deleterious mutation in a different gene other than BRCA1 and BRCA2 . (cancernetwork.com)
  • Our genetic and in situ hybridization data indicate that ciD is a mutation affecting both ci and pan. (uzh.ch)
  • This disease, previously referred to as MCKD type 1, is due to a mutation in the variable-number tandem repeat region of the MUC1 (Mucin 1) gene. (medscape.com)
  • This 5' flanking region is a functional promoter of the PDGF alpha R gene as concluded from its capacity to drive luciferase reporter gene expression in an orientation dependent way. (nih.gov)
  • Here, we aimed at identifying a β-catenin-independent Wnt target gene signature in order to understand the functional significance of non-canonical signaling in colon cancer cells. (nature.com)
  • This gene has not previously been considered a candidate in LDD and further functional work is needed on this hitherto unsuspected pathway. (bmj.com)
  • In plants, functional information is limited to one of the 17 members of the Arabidopsis (Arabidopsis thaliana) TET gene family and to expression data in reproductive stages. (unical.it)
  • NUCLEAR LOCALIZATION SIGNALGREEN FLUORESCENT PROTEIN/b-GLUCURONIDASE reporter lines throughout the life cycle, which predicted functional divergence in the paralogous genes per clade. (unical.it)
  • However, partial overlap was observed for many TET genes across the clades, correlating with few phenotypes in single mutants and, therefore, requiring double mutant combinations for functional investigation. (unical.it)
  • When the genes whose promoters bind ApoE4 are considered in functional groups, their relationship to Alzheimer's disease is striking," said co-senior author Dale Bredesen, MD, Buck Institute faculty and a professor at the Easton Laboratories for Neurodegenerative Disease Research at UCLA, "ApoE4 targets genes associated with sirtuins and aging, insulin resistance, inflammation and oxidative damage, accumulation of amyloid plaques and tangled tau among others. (buckinstitute.org)
  • 2013. Curcumin induces human cathelicidin antimicrobial peptide gene expression through a vitamin D receptor-independent pathway. . (oregonstate.edu)
  • CRISPR/Cas9 mediated knock-out of VPREB1 gene induces a cytotoxic effect in myeloma cells. (nih.gov)
  • Indeed, we found that Wg signaling induces the expression of the Hh target gene patched (ptc) in ciD animals. (uzh.ch)
  • Bisulfite amplicon sequencing revealed that no significant difference was detected between the methylation levels of CUX1 core promoter region in SM tissues and ST tissues . (bvsalud.org)
  • Of note, functionally-relevant differences between humans and chimpanzees are observed regarding the 3 main components of this pathway: i) the protein sequences of immunes TFs binding MER41 LTRs, ii) the insertion sites of MER41 LTRs in the promoter regions of ID-associated genes and iii) the protein sequences of the targeted ID-associated genes. (biorxiv.org)
  • Genetic variation in the presynaptic norepinephrine transporter is associated with blood pressure responses to exercise in healthy humans. (snpedia.com)
  • This gene is highly conserved between flies and humans and critically involved in neuronal communication in the brain, where it modulates action potential duration and regulates the firing rate of neurons. (utexas.edu)
  • Run-on analysis showed transcriptional attenuation in the normal rat myc gene, similar to the situation in mice and humans. (lu.se)
  • A genetic variation in the promoter region of UGT1A1 is associated with Gilbert syndrome. (medscape.com)
  • Association of VPREB1 Gene Copy Number Variation and Rheumatoid Arthritis Susceptibility. (nih.gov)
  • The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis. (nih.gov)
  • Large scale genetic studies have offered up some interesting insights into how our sense of smell works, though, including evidence that genetic variation in the OR2M7 gene can help determine if a person noticed an unpleasant smell in their urine after eating asparagus 3 . (helix.com)
  • Genetic variation in the ATP binding cassette transporter ABCC10 is associated with neutropenia for docetaxel in Japanese lung cancer patients cohort. (nih.gov)
  • In an established line of rat fibroblasts (Rat-2), the more distal myc promoter (P2) is the preferred site of initiation. (lu.se)
  • These genes were selected based on their role in asthmatic inflammatory processes and History previously reported associations with asthma phenotypes. (cdc.gov)
  • Distinct promoter methylation profile reveals spatial epigenetic heterogeneity in 2 myeloma patients with multifocal extramedullary relapses. (cancerindex.org)
  • Three distinct genetic-familial varieties of primary aldosteronism exist. (medscape.com)
  • To date, the central role of specific transcription factors in positively regulating these distinct differentiation processes to acquire a B cell-specific genetic program is well established. (eur.nl)
  • Three overlapping but distinct populations of B. burgdorferi corresponded to the geographic regions. (cdc.gov)
  • Regulatory mechanisms for chromosomal genes encoding multidrug resistance (MDR) efflux pumps (EPs) in Staphylococcus aureus are poorly defined. (manchester.ac.uk)
  • Transposition and duplication were identified as the two mechanisms generating these high-density TE regions. (biomedcentral.com)
  • Ranking of DA-associated SNPs based on their likelihood to affect gene regulatory mechanisms in the lung yielded 21 prioritized SNPs. (cdc.gov)
  • The ASXL1 protein can turn on (activate) or turn off (repress) HOX genes depending on when they are needed. (medlineplus.gov)
  • The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. (nih.gov)
  • The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • Peripheral nerve injury upregulated DNMT1 expression in the injured DRG through the transcription factor cAMP response element binding protein-triggered transcriptional activation of gene. (iasp-pain.org)
  • Genes can be regulated at multiple levels, for instance, at the level of transcription, level of mRNA splicing, mRNA editing, post-translational modifications to the protein and protein localization. (utexas.edu)
  • The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. (nih.gov)
  • 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)
  • Indeed, in the absence of PRDM9, meiotic DSBs occur at transcription regulatory regions, such as promoters and enhancers (Brick et al. (springer.com)
  • Interestingly, ID-associated genes exhibit promoter-localized MER41 LTRs that harbor TF binding sites (TFBSs) for not only STAT1 but also other immune TFs such as, in particular, NFKB1 (Nuclear Factor Kappa B Subunit 1) and STAT3 (Signal Transducer And Activator Of Transcription 3). (biorxiv.org)
  • For example, active promoter states in skeletal muscle were associated with extracellular structure genes, while active promoter states in lymphoblastoid cells were associated with immune response genes. (nih.gov)
  • This effect is mediated through specific transcription factor binding within the -52/+118 region of the PDGF alpha R gene. (nih.gov)
  • Cloning of Lig 1 demonstrated that the SPL transcription factor is conserved in monocots, providing a target for gene manipulation to maximize light interception capacity in high planting density. (usda.gov)
  • We found that HDAC7 specifically interacted with the transcription factor MEF2C in pre-B cells and was recruited to MEF2 binding sites located at the promoters of genes critical for macrophage function. (eur.nl)
  • Publishing on January 20th in The Journal of Neuroscience, researchers cast the lipid-binding ApoE4 in an entirely new light, showing that it is a transcription factor that enters the nucleus and binds DNA with high affinity, including the promoter regions of 1700 different genes. (buckinstitute.org)
  • The fact that a lipoprotein in the blood is also a transcription factor that directly controls gene expression makes it an important factor across the lifespan. (buckinstitute.org)
  • Molecular analysis revealed that the ciD allele is caused by an inversion event that swapped the promoter regions and the first exons of the two genes. (uzh.ch)
  • 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)
  • Gene expression profiling was performed after silencing of key components of Wnt signaling pathway and an iterative signature algorithm was applied to predict pathway-dependent gene signatures. (nature.com)
  • Although the field of OMICS is ever expanding (eg, see http://omics.org ), currently five different OMICS fields are well established: genotyping, gene expression profiling, epigenomics, proteomics, and metabolomics. (bmj.com)
  • This is a 1.98kb long DNA sequence containing the ubiquitin promoter and 5' untranslated region from Zea mays. (cbd.int)
  • Most of these tests can also detect large deletions, sequence duplications, and complex gene rearrangements. (cancernetwork.com)
  • We found that versions of the sequence controlling TDH3 expression that increased variance in gene expression were rarely found in the wild, indicating that natural selection prefers TDH3 expression to be consistent, resulting in similar amounts of gene product in every cell," Metzger said. (sciencedaily.com)
  • A total of seven sequence variations across the NTS gene, none of them located in coding regions, were identified. (lu.se)
  • The nucleotide sequence of the gene and its flanking regions was determined and analyzed. (caltech.edu)
  • Cloning the coding regions of Cstps1 from Fortune and Murcott mandarin, and aligning with previous reported Valencia orange Cstps1 sequence, showed that they both exhibited extremely high similarity with the known Cstps1 . (biomedcentral.com)
  • In addition, the morphogen retinoic acid, alone or in combination with dibutyryl cAMP, gives a 22-fold induction of PDGF alpha R gene promoter activity in human teratocarcinoma cells. (nih.gov)
  • Transcriptional activity of 5-HT 1A receptor promoter containing rs198585630 C/T allele was determined in vitro . (frontiersin.org)
  • We demonstrated that transcriptional activity of 5-HT 1A receptor promoter containing rs198585630 C allele was higher than that of 5-HT 1A receptor promoter containing T allele. (frontiersin.org)
  • The transcriptional activity of 5-HT 1A receptor promoter was stimulated by 30 mW/cm 2 microwave exposure, and rs198585630 C allele was more sensitive to microwave exposure, as it showed stronger transcriptional activation. (frontiersin.org)
  • When DNA is tightly packed, gene activity (expression) is lower than when DNA is loosely packed. (medlineplus.gov)
  • When a promoter region is methylated, gene activity is repressed, and when a promoter region is not methylated, the gene is active. (medlineplus.gov)
  • Altered activity of HOX genes probably leads to the neurological and physical features of this condition. (medlineplus.gov)
  • For this purpose, the expression levels of DNMT3A and DNMT3B in HEK293 cells were artificially changed, and the effect on klotho gene promoter activity was investigated using a reporter gene. (tubitak.gov.tr)
  • In silico analyses and mRNA half-life determinations linked insertions of nucleotide repeats 3' to the -10 motif of the norA promoter with increased promoter activity. (manchester.ac.uk)
  • Genetic and molecular data indicate that wild-type Pan and CiD compete for binding to Arm, leading to a compromised transduction of the Wg signal in heterozygous ciD/+ animals and to a dramatic enhancement of the gain-of-function activity of CiD in homozygous mutants. (uzh.ch)
  • The scientists found that regulatory regions vary greatly in activity depending on the cell type. (nih.gov)
  • Patterns of activity for enhancer elements, they found, correlated strongly with patterns of expression for the nearest gene. (nih.gov)
  • Mutational analysis indicates these sites are required for AP-1 responsiveness and full promoter activity. (bath.ac.uk)
  • A 30-fold modulation of promoter activity could be achieved in these experiments. (caltech.edu)
  • Three binary vectors, designated as p1380-FortP-GUSin, p1380-MurcP-GUSin and p1380-MurcP(+ 12)-GUSin, were developed for promoter activity analysis. (biomedcentral.com)
  • Transient over-expression of Fortune Cstps1 promoter in sweet orange showed notable GUS activity, but the Murcott Cstps1 promoter did not. (biomedcentral.com)
  • In addition, by re-inserting the 12-nucleotide fragment, the activity of the Murcott Cstps1 promoter was mostly recovered. (biomedcentral.com)
  • This may lead to increased transcriptional activity of the gene, increased reuptake of serotonin from synaptic clefts, and termination of the activity of serotonin. (tuni.fi)
  • A repressive region (-1151-(-751) bp) was also detected, which had a strong inhibitory effect on CUX1 promoter activity. (bvsalud.org)
  • PMID 18779921 ] The combined effect of norepinephrine transporter gene and negative life events in major depression of Chinese Han population. (snpedia.com)
  • We show here that DNMT1, a canonical maintenance methyltransferase, acts as the DNMT and is required for neuropathic pain genesis likely through repressing at least DRG gene expression in male mice. (iasp-pain.org)
  • For this purpose, TAPNAC promoter elements were fused to the -glucuronidase (GUS) reporter gene, and spatial and temporal GUS expression was monitored. (tamu.edu)
  • These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
  • It is well known that anesthetics and abused drugs preferentially modulate specific molecular pathways in defined regions of the brain. (utexas.edu)
  • Intragenic recombination among ospC genes is known, but the extent to which recombination extended beyond the ospC locus itself is undefined. (cdc.gov)
  • A multi-gene panel test provides better diagnostic yield compared with a limited BRCA1/2 genetic test for patients at risk for hereditary breast cancer. (cancernetwork.com)
  • Patients at risk for hereditary cancer syndromes can benefit from upfront, more efficient, multi-gene panel testing without any sacrifice to BRCA testing capability," said the study authors. (cancernetwork.com)
  • She added that multi-gene panel testing can empower women with the understanding of their risk and can provide clinical information that could be used now or in the future to enhance knowledge of breast cancer biology and fuel the development of more effective treatments. (cancernetwork.com)
  • In some recently published studies, klotho gene has also been associated with several types of cancer and identified as a tumor suppressor gene. (tubitak.gov.tr)
  • Herein, the effects of DNMT3A and DNMT3B enzymes on the expression of klotho gene, an important genetic factor relating to the aging process and some human cancer types, were investigated. (tubitak.gov.tr)
  • 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)
  • E2F site in the essential promoter region does not confer S phase-specific transcription of the ABCC10 gene in human prostate cancer cells. (nih.gov)
  • This offers one of the most challenging paradoxes in cancer biology: what is required of a cell to not only survive massive genetic damage but also outcompete neighboring cells and present as a malignant tumor? (lu.se)
  • To enhance our understanding of the role of TP53 in cancer we focus on the TP53 promoter region - does it represent the gas or the brake pedal? (lu.se)
  • At smaller genomic scales, promoter regions of hsp genes and the promoter region of CG18446 have been shown to accumulate TE insertions. (biomedcentral.com)
  • The gene encoding the VHb polypeptide was isolated from a Vitreoscilla genomic library. (caltech.edu)
  • Several intracellular metabolic pathways in which multiple genes have a role affect the aging process. (tubitak.gov.tr)
  • We have learned that genes in mammalian cells are transcribed into messenger RNAs (mRNAs), which are to be translated into polypeptides (proteins). (intechopen.com)
  • OR2M7 is among many olfactory genes that code for olfactory receptors, which are proteins that detect airborne molecules and initiate a relay of signaling back to the brain. (helix.com)
  • TETRASPANIN (TET) genes encode conserved integral membrane proteins that are known in animals to function in cellular communication during gamete fusion, immunity reaction, and pathogen recognition. (unical.it)
  • The TAPNAC promoter was studied in detail to identify cis regulatory sequences that confer tapetal specific expression. (tamu.edu)
  • A multi‑gene panel test consisting of 541 genetic loci of monogenic hereditary diseases was performed. (spandidos-publications.com)
  • Mutational Analysis of the VPREB1 Gene of Pre-BCR Complex in a Cohort of Sporadic Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia. (nih.gov)
  • Promoters active in both cells types were associated with general metabolism genes. (nih.gov)
  • Here, we present evidence that the promoter regions of intellectual disability-associated genes are uniquely enriched in LTR sequences of the MER41 HERVs. (biorxiv.org)
  • Since pharmacological inhibition or genetic knockdown of DRG DNMT1 alleviated nerve injury-induced pain hypersensitivities, DRG DNMT1 contributes to neuropathic pain genesis partially through repression of DRG gene expression. (iasp-pain.org)
  • Here we addressed the molecular mechanism behind repression of non-lymphoid genes in B cells. (eur.nl)
  • Gene expression is maximal under microaerobic conditions, and is also influenced by catabolite repression. (caltech.edu)
  • Conclusions: Our findings show that environmental stress is concurrent with decreased methylation of the SLC6A4 promoter. (tuni.fi)
  • saRNAs are 21-nucleotide long double-stranded RNAs (dsRNAs) complementary to the promoter region of a targeted gene. (emailwire.com)
  • The complex binds to the promoter region to activate transcription, enhancing the creation of sucrose phosphorylase. (wikipedia.org)
  • We have identified a NAC gene, TAPNAC (At1g61110), specifically expressed in the Arabidopsis tapetum via transcriptional profiling. (tamu.edu)
  • We show that these signatures allow transcription factors with substantial differences in binding site specificity to share similar promoter specificities. (nih.gov)
  • Microbiological and gene expression data correlated in four instances, existing knowledge of the substrate specificity of NorC resulted in correlation in two others, and a transcriptional/translational disconnect is possible for the remaining two. (manchester.ac.uk)
  • Genetic variations that lie outside of any known genes can lead to disease. (nih.gov)
  • They can upregulate gene expression, potentially correcting deficiencies associated with genetic disorders and re-activating tumor suppressor genes in multiple types of cancers. (emailwire.com)
  • The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. (cancerindex.org)
  • Based on the indication, the RNA therapeutics market is segmented into infectious diseases, rare genetic diseases/hereditary diseases, and other indications. (emailwire.com)
  • Across 10 association studies of various diseases and traits, we found that the associated SNPs significantly overlapped our predicted control region annotations in specific cell types," Kellis says. (nih.gov)
  • A conserved TCGTGT motif was identified in the TAPNAC promoter and other tapetal expressed promoters. (tamu.edu)
  • Studies in fed-batch fermentations demonstrated that under oxygen limitation, the presence of the VHb gene on a multicopy plasmid enhanced the growth and respiratory characteristics of a recombinant E. coli host as compared to equivalent plasmid-carrying and plasmid-free cells. (caltech.edu)
  • This study describes the molecular cloning of the non-coding exon 1 and approximately 2 kb of 5' flanking region of the human PDGF alpha R gene. (nih.gov)