Matches in SemOpenAlex for { <https://semopenalex.org/work/W2043702717> ?p ?o ?g. }
- W2043702717 abstract "Missense/nonsense mutations, which are related to pathogenic conditions, are regarded as pathogenic mutations. The features of pathogenic mutations in gene coding regions are still unclear. To explore the pathogenic mutation features of human cancer-related genes, 1227 missense/nonsense mutations from 99 human cancer-related genes were analyzed. We found that the mutability in exonic splicing enhancers (ESEs) is less than that outside ESEs. CpG sites are more enriched in ESEs than outside ESEs. Decrease of mutability in ESEs is much larger than that outside ESEs upon removal of CpG mutations since CpG is more mutable. In addition, the bases in ESEs are prone to undergo C→T/G→A mutations. What is more, mutations in ESEs were preferentially located within 50 nt flanking the short exons (≤250 nt), and tend to be of conservative type with minimum effect on the protein structure. Finally, nonsense mutation located in ESEs might be related to Nonsense Mediated Decay (NMD) pathway. In conclusion, this study explored the features of pathogenic mutations of human cancer-related genes." @default.
- W2043702717 created "2016-06-24" @default.
- W2043702717 creator A5024930665 @default.
- W2043702717 creator A5042718871 @default.
- W2043702717 creator A5043306934 @default.
- W2043702717 creator A5081704342 @default.
- W2043702717 creator A5090891386 @default.
- W2043702717 date "2012-12-01" @default.
- W2043702717 modified "2023-09-28" @default.
- W2043702717 title "Features of missense/nonsense mutations in exonic splicing enhancer sequences from cancer-related human genes" @default.
- W2043702717 cites W1837304276 @default.
- W2043702717 cites W1965760291 @default.
- W2043702717 cites W1975214778 @default.
- W2043702717 cites W1980343998 @default.
- W2043702717 cites W1983555686 @default.
- W2043702717 cites W1983728054 @default.
- W2043702717 cites W1999934645 @default.
- W2043702717 cites W2005155951 @default.
- W2043702717 cites W2020200036 @default.
- W2043702717 cites W2021665501 @default.
- W2043702717 cites W2023648355 @default.
- W2043702717 cites W2029292460 @default.
- W2043702717 cites W2039675762 @default.
- W2043702717 cites W2058490761 @default.
- W2043702717 cites W2059300459 @default.
- W2043702717 cites W2063318299 @default.
- W2043702717 cites W2073576377 @default.
- W2043702717 cites W2102337459 @default.
- W2043702717 cites W2111090400 @default.
- W2043702717 cites W2111680284 @default.
- W2043702717 cites W2121729179 @default.
- W2043702717 cites W2125887220 @default.
- W2043702717 cites W2129105040 @default.
- W2043702717 cites W2129682060 @default.
- W2043702717 cites W2136810882 @default.
- W2043702717 cites W2140201150 @default.
- W2043702717 cites W2146577466 @default.
- W2043702717 cites W2147781659 @default.
- W2043702717 cites W2147859846 @default.
- W2043702717 cites W2150791948 @default.
- W2043702717 cites W2158116492 @default.
- W2043702717 cites W2159864549 @default.
- W2043702717 cites W2160799235 @default.
- W2043702717 cites W2162396524 @default.
- W2043702717 cites W2165419403 @default.
- W2043702717 cites W2165954869 @default.
- W2043702717 cites W2166863344 @default.
- W2043702717 cites W2399880284 @default.
- W2043702717 doi "https://doi.org/10.1016/j.mrfmmm.2012.10.001" @default.
- W2043702717 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23123687" @default.
- W2043702717 hasPublicationYear "2012" @default.
- W2043702717 type Work @default.
- W2043702717 sameAs 2043702717 @default.
- W2043702717 citedByCount "2" @default.
- W2043702717 countsByYear W20437027172013 @default.
- W2043702717 countsByYear W20437027172017 @default.
- W2043702717 crossrefType "journal-article" @default.
- W2043702717 hasAuthorship W2043702717A5024930665 @default.
- W2043702717 hasAuthorship W2043702717A5042718871 @default.
- W2043702717 hasAuthorship W2043702717A5043306934 @default.
- W2043702717 hasAuthorship W2043702717A5081704342 @default.
- W2043702717 hasAuthorship W2043702717A5090891386 @default.
- W2043702717 hasConcept C104317684 @default.
- W2043702717 hasConcept C111936080 @default.
- W2043702717 hasConcept C140173407 @default.
- W2043702717 hasConcept C150194340 @default.
- W2043702717 hasConcept C190727270 @default.
- W2043702717 hasConcept C195491092 @default.
- W2043702717 hasConcept C36823959 @default.
- W2043702717 hasConcept C501734568 @default.
- W2043702717 hasConcept C54355233 @default.
- W2043702717 hasConcept C54458228 @default.
- W2043702717 hasConcept C62923972 @default.
- W2043702717 hasConcept C67705224 @default.
- W2043702717 hasConcept C75563809 @default.
- W2043702717 hasConcept C86339819 @default.
- W2043702717 hasConcept C86803240 @default.
- W2043702717 hasConcept C91779695 @default.
- W2043702717 hasConcept C96777560 @default.
- W2043702717 hasConceptScore W2043702717C104317684 @default.
- W2043702717 hasConceptScore W2043702717C111936080 @default.
- W2043702717 hasConceptScore W2043702717C140173407 @default.
- W2043702717 hasConceptScore W2043702717C150194340 @default.
- W2043702717 hasConceptScore W2043702717C190727270 @default.
- W2043702717 hasConceptScore W2043702717C195491092 @default.
- W2043702717 hasConceptScore W2043702717C36823959 @default.
- W2043702717 hasConceptScore W2043702717C501734568 @default.
- W2043702717 hasConceptScore W2043702717C54355233 @default.
- W2043702717 hasConceptScore W2043702717C54458228 @default.
- W2043702717 hasConceptScore W2043702717C62923972 @default.
- W2043702717 hasConceptScore W2043702717C67705224 @default.
- W2043702717 hasConceptScore W2043702717C75563809 @default.
- W2043702717 hasConceptScore W2043702717C86339819 @default.
- W2043702717 hasConceptScore W2043702717C86803240 @default.
- W2043702717 hasConceptScore W2043702717C91779695 @default.
- W2043702717 hasConceptScore W2043702717C96777560 @default.
- W2043702717 hasLocation W20437027171 @default.
- W2043702717 hasLocation W20437027172 @default.
- W2043702717 hasOpenAccess W2043702717 @default.
- W2043702717 hasPrimaryLocation W20437027171 @default.