FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2947642493> ?p ?o ?g. }

• W2947642493 endingPage "1873" @default.
• W2947642493 startingPage "1856" @default.
• W2947642493 abstract "It has long been known that canonical 5′ splice site (5′SS) GT>GC variants may be compatible with normal splicing. However, to date, the actual scale of canonical 5′SSs capable of generating wild-type transcripts in the case of GT>GC substitutions remains unknown. Herein, combining data derived from a meta-analysis of 45 human disease-causing 5′SS GT>GC variants and a cell culture-based full-length gene splicing assay of 103 5′SS GT>GC substitutions, we estimate that ~15–18% of canonical GT 5′SSs retain their capacity to generate between 1% and 84% normal transcripts when GT is substituted by GC. We further demonstrate that the canonical 5′SSs in which substitution of GT by GC-generated normal transcripts exhibit stronger complementarity to the 5′ end of U1 snRNA than those sites whose substitutions of GT by GC did not lead to the generation of normal transcripts. We also observed a correlation between the generation of wild-type transcripts and a milder than expected clinical phenotype but found that none of the available splicing prediction tools were capable of reliably distinguishing 5′SS GT>GC variants that generated wild-type transcripts from those that did not. Our findings imply that 5′SS GT>GC variants in human disease genes may not invariably be pathogenic." @default.
• W2947642493 created "2019-06-07" @default.
• W2947642493 creator A5001125176 @default.
• W2947642493 creator A5003218486 @default.
• W2947642493 creator A5003310948 @default.
• W2947642493 creator A5015755926 @default.
• W2947642493 creator A5016730457 @default.
• W2947642493 creator A5021252984 @default.
• W2947642493 creator A5024873764 @default.
• W2947642493 creator A5035616324 @default.
• W2947642493 creator A5039091127 @default.
• W2947642493 creator A5039958070 @default.
• W2947642493 creator A5041954083 @default.
• W2947642493 creator A5042443600 @default.
• W2947642493 creator A5057598118 @default.
• W2947642493 creator A5065426947 @default.
• W2947642493 creator A5066521398 @default.
• W2947642493 creator A5068937465 @default.
• W2947642493 creator A5071605986 @default.
• W2947642493 creator A5074231404 @default.
• W2947642493 creator A5080616088 @default.
• W2947642493 creator A5083205450 @default.
• W2947642493 creator A5084080403 @default.
• W2947642493 date "2019-06-24" @default.
• W2947642493 modified "2023-10-18" @default.
• W2947642493 title "First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts" @default.
• W2947642493 cites W1208069797 @default.
• W2947642493 cites W1586981128 @default.
• W2947642493 cites W1728409986 @default.
• W2947642493 cites W1820845817 @default.
• W2947642493 cites W1851094132 @default.
• W2947642493 cites W1965051773 @default.
• W2947642493 cites W1965664368 @default.
• W2947642493 cites W1968223204 @default.
• W2947642493 cites W1969506491 @default.
• W2947642493 cites W1971478527 @default.
• W2947642493 cites W1973005058 @default.
• W2947642493 cites W1977273701 @default.
• W2947642493 cites W1981017923 @default.
• W2947642493 cites W1983053647 @default.
• W2947642493 cites W1989525083 @default.
• W2947642493 cites W1991736711 @default.
• W2947642493 cites W1995478437 @default.
• W2947642493 cites W1995501069 @default.
• W2947642493 cites W1995792221 @default.
• W2947642493 cites W2008139645 @default.
• W2947642493 cites W2009161049 @default.
• W2947642493 cites W2011223908 @default.
• W2947642493 cites W2011444105 @default.
• W2947642493 cites W2012034410 @default.
• W2947642493 cites W2019760292 @default.
• W2947642493 cites W2021525576 @default.
• W2947642493 cites W2024588724 @default.
• W2947642493 cites W2027836023 @default.
• W2947642493 cites W2027991207 @default.
• W2947642493 cites W2029979788 @default.
• W2947642493 cites W2030167441 @default.
• W2947642493 cites W2033065494 @default.
• W2947642493 cites W2034793790 @default.
• W2947642493 cites W2037182175 @default.
• W2947642493 cites W2040820315 @default.
• W2947642493 cites W2046084748 @default.
• W2947642493 cites W2047364414 @default.
• W2947642493 cites W2048112719 @default.
• W2947642493 cites W2053926674 @default.
• W2947642493 cites W2056755689 @default.
• W2947642493 cites W2058840840 @default.
• W2947642493 cites W2066876408 @default.
• W2947642493 cites W2080265584 @default.
• W2947642493 cites W2082551636 @default.
• W2947642493 cites W2082919040 @default.
• W2947642493 cites W2086223186 @default.
• W2947642493 cites W2089054940 @default.
• W2947642493 cites W2098503772 @default.
• W2947642493 cites W2108244474 @default.
• W2947642493 cites W2108619618 @default.
• W2947642493 cites W2112763242 @default.
• W2947642493 cites W2115586943 @default.
• W2947642493 cites W2117456484 @default.
• W2947642493 cites W2117476795 @default.
• W2947642493 cites W2121843948 @default.
• W2947642493 cites W2123641402 @default.
• W2947642493 cites W2126846097 @default.
• W2947642493 cites W2133391732 @default.
• W2947642493 cites W2135852500 @default.
• W2947642493 cites W2136595507 @default.
• W2947642493 cites W2139198631 @default.
• W2947642493 cites W2139312181 @default.
• W2947642493 cites W2147491566 @default.
• W2947642493 cites W2149956676 @default.
• W2947642493 cites W2151244854 @default.
• W2947642493 cites W2155684118 @default.
• W2947642493 cites W2156184796 @default.
• W2947642493 cites W2163570826 @default.
• W2947642493 cites W2166122846 @default.
• W2947642493 cites W2167839413 @default.
• W2947642493 cites W2168084851 @default.
• W2947642493 cites W2169669582 @default.

• next