• The presence of exonic splicing enhancers is essential for proper identification of splice sites by the cellular machinery. (wikipedia.org)
  • While not excised by exon 2 alone, intron A was efficiently excised when exon 3 and/or exon 4 was combined with exon 2, suggesting the presence of exonic splicing enhancers (ESEs) in exons 3 and 4. (korea.ac.kr)
  • In molecular biology, an exonic splicing enhancer (ESE) is a DNA sequence motif consisting of 6 bases within an exon that directs, or enhances, accurate splicing of heterogeneous nuclear RNA (hnRNA) or pre-mRNA into messenger RNA (mRNA). (wikipedia.org)
  • Mutation of exonic splicing enhancer motifs is a significant contributor to genetic disorders and some cancers. (wikipedia.org)
  • As an application of this approach, we analyzed a set of 238 hexanucleotides previously predicted to have exonic splicing enhancer (ESE) activity in human exons using the relative enhancer and silencer classification by unanimous enrichment (RESCUE)-ESE method. (nih.gov)
  • Results: While accounting for age, examiner and experimental plate, parkinsonism cases had lower mean NOS2 methylation than controls (p-value for trend = 0.04), specifically at CpG site 8329 located in an exonic splicing enhancer of NOS2 (p-value for trend = 0.07). (cdc.gov)
  • Linking C5 deficiency to an exonic splicing enhancer mutation. (lu.se)
  • KTM MACINA PROWLER EXONIC 29 carbon frame full suspension enduro e-bike with ultra high-end components. (reicycles.com)
  • SR proteins bind to and promote exon splicing in regions with ESEs, while heterogeneous ribonucleoprotein particles (hnRNPs) bind to and block exon splicing in regions with exonic splicing silencers. (wikipedia.org)
  • Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency. (jci.org)
  • We identified a novel exonic mutation which causes exon skipping in the mitochondrial acetoacetyl-CoA thiolase (T2) gene from a girl with T2 deficiency (GK07). (jci.org)
  • In vivo splicing experiments revealed that the exonic mutation caused partial skipping of exon 8. (jci.org)
  • The role of exon sequences in the splicing mechanism is indicated by the exon skipping which occurred with an exonic mutation. (jci.org)
  • We show that a two-domain RRM1-ZnF unit recognizes a GGA-centered motif enriched in RBM10 exonic sites with high affinity and specificity and test that the interaction with these exonic sequences promotes exon skipping. (crick.ac.uk)
  • Hi everyone, I have a list of genomic coodinates corresponding to exonic variants, and I'd like to determine the exon number they are in. (usegalaxy.org)
  • Furthermore, changes in post-transcriptional regulation can be predicted from differences between exonic and intronic changes. (nature.com)
  • More recently, levels of exonic reads were found to lag 15 min behind levels of intronic reads for a set of oscillating transcripts during Caenorhabditis elegans development, suggesting that intronic levels are a proxy for nascent transcription 26 . (nature.com)
  • Custom panels can be designed to target exonic regions of genes, hotspots or SNPs, as well as intronic and promoter regions. (qiagen.com)
  • Multiple studies conducted around the globe have reported mutations in both the exonic and intronic regions of GABRG2 to be associated with different epilepsy phenotypes. (hindawi.com)
  • We, in this study, perform a comprehensive analysis of exonic DNMs in the protein-coding regions as rare variants potentially related to BD. (nature.com)
  • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. (bvsalud.org)
  • Sixty percent of the exonic SNPs were non-synonymous and, of these, 45% led to amino acids with altered properties. (usda.gov)
  • To make the stratified picks, the human genome was divided into a top 20%, middle 30%, and bottom 50% stratum along two axes: gene density and non-exonic conservation. (ucsc.edu)
  • For an explanation of how gene density and non-exonic conservation were determined, see the Methods section. (ucsc.edu)
  • Negative transcriptional modulation and silencing of the bi-exonic Rnf35 gene in the preimplantation embryo. (nih.gov)
  • Each aligned exonic read was tagged with a gene name. (nih.gov)
  • Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels. (ox.ac.uk)
  • Then compare the production by tumor and regular cells as they hybridize to the exonic DNA sequence on the chip. (flashcardmachine.com)
  • Detection of clinically relevant exonic copy-number changes by. (zettagene.com)
  • Thanks to the disc brakes, it provides the perfect descent skills and with the light EXONIC frame, weighing only 790 grams, the climbs are smooth too. (ktm-bikes.at)
  • Using this CasIP assay, we identified FECR1, a FLI1 exonic circular RNA that binds to the FLI1 promoter and epigenetically activates FLI1 in breast cancer cells. (biomedcentral.com)
  • In the present study, using an in vitro HeLa splicing system, we examined the enhancing activities of exonic elements for GnRH pre-mRNA splicing. (korea.ac.kr)
  • Overall, our results support the roles of both exonic gDNMs and pzDNMs in BD. (nature.com)
  • Recent reports show that aberrant splicing may occur as a consequence of mutations that disrupt exonic splicing enhancers (ESEs) or create exonic splicing silencers. (bmj.com)
  • Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. (ox.ac.uk)
  • Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN)" by Anath C. Lionel, Andrea K. Vaags et al. (aku.edu)
  • Well-described ESEs in mammals are purine rich and cause predictable skews in codon and amino acid usage toward exonic ends. (bath.ac.uk)
  • Despite no direct exonic interactions and even in the absence of the scissile phosphate, two metal ions remain bound within the active site. (rcsb.org)
  • This study aimed to determine the contribution of rare exonic, non-synonymous DNMs to HSCR without any a priori selection. (biomedcentral.com)