FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2045243755> ?p ?o ?g. }

• W2045243755 endingPage "1541" @default.
• W2045243755 startingPage "1532" @default.
• W2045243755 abstract "Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to predict the impact on splicing; however, no diagnosis result could rely on predictions alone, but requires functional testing. Here, we report an in vitro approach to study the impact of DYSF mutations on splicing. It was evaluated on a series of 45 DYSF mutations, both intronic and exonic. We confirmed splicing alterations for all intronic mutations localized in 5′ or 3′ splice sites. Then, we showed that DYSF missense mutations could also result in splicing defects: mutations c.463G>A and c.2641A>C abolished ESEs and led to exon skipping; mutations c.565C>G and c.1555G>A disrupted Exonic Splicing Enhancer (ESE), while concomitantly creating new 5′ or 3′ splice site leading to exonic out of frame deletions. We demonstrated that 20% of DYSF missense mutations have a strong impact on splicing. This minigene strategy is an efficient tool for the detection of splicing defects in dysferlinopathies, which could allow for a better comprehension of splicing defects due to mutations and could improve prediction tools evaluating splicing defects." @default.
• W2045243755 created "2016-06-24" @default.
• W2045243755 creator A5004146540 @default.
• W2045243755 creator A5026085905 @default.
• W2045243755 creator A5031686701 @default.
• W2045243755 creator A5060795663 @default.
• W2045243755 creator A5062724732 @default.
• W2045243755 creator A5063600106 @default.
• W2045243755 creator A5073946445 @default.
• W2045243755 creator A5085042865 @default.
• W2045243755 date "2014-11-24" @default.
• W2045243755 modified "2023-10-16" @default.
• W2045243755 title "Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene" @default.
• W2045243755 cites W1551910894 @default.
• W2045243755 cites W1592698849 @default.
• W2045243755 cites W1969099911 @default.
• W2045243755 cites W1989604672 @default.
• W2045243755 cites W1992001276 @default.
• W2045243755 cites W1996744795 @default.
• W2045243755 cites W1998883208 @default.
• W2045243755 cites W1999379258 @default.
• W2045243755 cites W2000364429 @default.
• W2045243755 cites W2001353893 @default.
• W2045243755 cites W2011960556 @default.
• W2045243755 cites W2015252183 @default.
• W2045243755 cites W2016438201 @default.
• W2045243755 cites W2018758525 @default.
• W2045243755 cites W2021853034 @default.
• W2045243755 cites W2027513958 @default.
• W2045243755 cites W2047136624 @default.
• W2045243755 cites W2050873030 @default.
• W2045243755 cites W2063318299 @default.
• W2045243755 cites W2063714349 @default.
• W2045243755 cites W2082773579 @default.
• W2045243755 cites W2109931578 @default.
• W2045243755 cites W2111090400 @default.
• W2045243755 cites W2132123037 @default.
• W2045243755 cites W2137392137 @default.
• W2045243755 cites W2171904397 @default.
• W2045243755 cites W2275450346 @default.
• W2045243755 cites W193423965 @default.
• W2045243755 doi "https://doi.org/10.1002/humu.22710" @default.
• W2045243755 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25312915" @default.
• W2045243755 hasPublicationYear "2014" @default.
• W2045243755 type Work @default.
• W2045243755 sameAs 2045243755 @default.
• W2045243755 citedByCount "21" @default.
• W2045243755 countsByYear W20452437552015 @default.
• W2045243755 countsByYear W20452437552016 @default.
• W2045243755 countsByYear W20452437552017 @default.
• W2045243755 countsByYear W20452437552018 @default.
• W2045243755 countsByYear W20452437552020 @default.
• W2045243755 countsByYear W20452437552021 @default.
• W2045243755 countsByYear W20452437552022 @default.
• W2045243755 countsByYear W20452437552023 @default.
• W2045243755 crossrefType "journal-article" @default.
• W2045243755 hasAuthorship W2045243755A5004146540 @default.
• W2045243755 hasAuthorship W2045243755A5026085905 @default.
• W2045243755 hasAuthorship W2045243755A5031686701 @default.
• W2045243755 hasAuthorship W2045243755A5060795663 @default.
• W2045243755 hasAuthorship W2045243755A5062724732 @default.
• W2045243755 hasAuthorship W2045243755A5063600106 @default.
• W2045243755 hasAuthorship W2045243755A5073946445 @default.
• W2045243755 hasAuthorship W2045243755A5085042865 @default.
• W2045243755 hasBestOaLocation W20452437551 @default.
• W2045243755 hasConcept C104317684 @default.
• W2045243755 hasConcept C166342232 @default.
• W2045243755 hasConcept C194583182 @default.
• W2045243755 hasConcept C2778776201 @default.
• W2045243755 hasConcept C2780989783 @default.
• W2045243755 hasConcept C36823959 @default.
• W2045243755 hasConcept C37113945 @default.
• W2045243755 hasConcept C42576000 @default.
• W2045243755 hasConcept C501734568 @default.
• W2045243755 hasConcept C54355233 @default.
• W2045243755 hasConcept C54458228 @default.
• W2045243755 hasConcept C62257209 @default.
• W2045243755 hasConcept C67705224 @default.
• W2045243755 hasConcept C75563809 @default.
• W2045243755 hasConcept C86803240 @default.
• W2045243755 hasConcept C94671646 @default.
• W2045243755 hasConceptScore W2045243755C104317684 @default.
• W2045243755 hasConceptScore W2045243755C166342232 @default.
• W2045243755 hasConceptScore W2045243755C194583182 @default.
• W2045243755 hasConceptScore W2045243755C2778776201 @default.
• W2045243755 hasConceptScore W2045243755C2780989783 @default.
• W2045243755 hasConceptScore W2045243755C36823959 @default.
• W2045243755 hasConceptScore W2045243755C37113945 @default.
• W2045243755 hasConceptScore W2045243755C42576000 @default.
• W2045243755 hasConceptScore W2045243755C501734568 @default.
• W2045243755 hasConceptScore W2045243755C54355233 @default.
• W2045243755 hasConceptScore W2045243755C54458228 @default.
• W2045243755 hasConceptScore W2045243755C62257209 @default.
• W2045243755 hasConceptScore W2045243755C67705224 @default.
• W2045243755 hasConceptScore W2045243755C75563809 @default.
• W2045243755 hasConceptScore W2045243755C86803240 @default.
• W2045243755 hasConceptScore W2045243755C94671646 @default.
• W2045243755 hasIssue "12" @default.

• next