FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4292219875> ?p ?o ?g. }

• W4292219875 endingPage "160" @default.
• W4292219875 startingPage "151" @default.
• W4292219875 abstract "Abstract Filamin A (FLNA) is a cytoplasmic actin binding protein, recently shown to be expressed as a long and short isoform. Mutations in FLNA are associated with a wide spectrum of disorders, including an X-linked form of chronic intestinal pseudo-obstruction (CIPO). However, the role of FLNA in intestinal development and function is largely unknown. In this study, we show that FLNA is expressed in the muscle layer of the small intestine from early human fetal stages. Expression of FLNA variants associated with CIPO, blocked expression of the long flna isoform and led to an overall reduction of RNA and protein levels. As a consequence, contractility of human intestinal smooth muscle cells was affected. Lastly, our transgenic zebrafish line showed that the flna long isoform is required for intestinal elongation and peristalsis. Histological analysis revealed structural and architectural changes in the intestinal smooth muscle of homozygous fish, likely triggered by the abnormal expression of intestinal smooth muscle markers. No defect in the localization or numbers of enteric neurons was observed. Taken together, our study demonstrates that the long FLNA isoform contributes to intestinal development and function. Since loss of the long FLNA isoform does not seem to affect the enteric nervous system, it likely results in a myopathic form of CIPO, bringing new insights to disease pathogenesis." @default.
• W4292219875 created "2022-08-18" @default.
• W4292219875 creator A5002419319 @default.
• W4292219875 creator A5007263314 @default.
• W4292219875 creator A5009922901 @default.
• W4292219875 creator A5015262442 @default.
• W4292219875 creator A5015468223 @default.
• W4292219875 creator A5016157244 @default.
• W4292219875 creator A5019615578 @default.
• W4292219875 creator A5025418303 @default.
• W4292219875 creator A5040057938 @default.
• W4292219875 creator A5046787583 @default.
• W4292219875 creator A5046907777 @default.
• W4292219875 creator A5063801673 @default.
• W4292219875 creator A5066478601 @default.
• W4292219875 creator A5068673793 @default.
• W4292219875 creator A5083642524 @default.
• W4292219875 date "2022-08-18" @default.
• W4292219875 modified "2023-10-01" @default.
• W4292219875 title "The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction" @default.
• W4292219875 cites W1968984758 @default.
• W4292219875 cites W1989270565 @default.
• W4292219875 cites W2051366169 @default.
• W4292219875 cites W2055268224 @default.
• W4292219875 cites W2058400332 @default.
• W4292219875 cites W2059324975 @default.
• W4292219875 cites W2089542776 @default.
• W4292219875 cites W2103089968 @default.
• W4292219875 cites W2126688317 @default.
• W4292219875 cites W2128355064 @default.
• W4292219875 cites W2143694949 @default.
• W4292219875 cites W2150192469 @default.
• W4292219875 cites W2201861657 @default.
• W4292219875 cites W2278110885 @default.
• W4292219875 cites W2329321343 @default.
• W4292219875 cites W2410285656 @default.
• W4292219875 cites W2761801517 @default.
• W4292219875 cites W2793031757 @default.
• W4292219875 cites W2894605064 @default.
• W4292219875 cites W2995639329 @default.
• W4292219875 cites W3008197674 @default.
• W4292219875 doi "https://doi.org/10.1093/hmg/ddac199" @default.
• W4292219875 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35981053" @default.
• W4292219875 hasPublicationYear "2022" @default.
• W4292219875 type Work @default.
• W4292219875 citedByCount "1" @default.
• W4292219875 countsByYear W42922198752023 @default.
• W4292219875 crossrefType "journal-article" @default.
• W4292219875 hasAuthorship W4292219875A5002419319 @default.
• W4292219875 hasAuthorship W4292219875A5007263314 @default.
• W4292219875 hasAuthorship W4292219875A5009922901 @default.
• W4292219875 hasAuthorship W4292219875A5015262442 @default.
• W4292219875 hasAuthorship W4292219875A5015468223 @default.
• W4292219875 hasAuthorship W4292219875A5016157244 @default.
• W4292219875 hasAuthorship W4292219875A5019615578 @default.
• W4292219875 hasAuthorship W4292219875A5025418303 @default.
• W4292219875 hasAuthorship W4292219875A5040057938 @default.
• W4292219875 hasAuthorship W4292219875A5046787583 @default.
• W4292219875 hasAuthorship W4292219875A5046907777 @default.
• W4292219875 hasAuthorship W4292219875A5063801673 @default.
• W4292219875 hasAuthorship W4292219875A5066478601 @default.
• W4292219875 hasAuthorship W4292219875A5068673793 @default.
• W4292219875 hasAuthorship W4292219875A5083642524 @default.
• W4292219875 hasBestOaLocation W42922198751 @default.
• W4292219875 hasConcept C104317684 @default.
• W4292219875 hasConcept C127716648 @default.
• W4292219875 hasConcept C142669718 @default.
• W4292219875 hasConcept C1491633281 @default.
• W4292219875 hasConcept C20563397 @default.
• W4292219875 hasConcept C2776878037 @default.
• W4292219875 hasConcept C2779684405 @default.
• W4292219875 hasConcept C53345823 @default.
• W4292219875 hasConcept C54355233 @default.
• W4292219875 hasConcept C58207958 @default.
• W4292219875 hasConcept C86803240 @default.
• W4292219875 hasConcept C95444343 @default.
• W4292219875 hasConceptScore W4292219875C104317684 @default.
• W4292219875 hasConceptScore W4292219875C127716648 @default.
• W4292219875 hasConceptScore W4292219875C142669718 @default.
• W4292219875 hasConceptScore W4292219875C1491633281 @default.
• W4292219875 hasConceptScore W4292219875C20563397 @default.
• W4292219875 hasConceptScore W4292219875C2776878037 @default.
• W4292219875 hasConceptScore W4292219875C2779684405 @default.
• W4292219875 hasConceptScore W4292219875C53345823 @default.
• W4292219875 hasConceptScore W4292219875C54355233 @default.
• W4292219875 hasConceptScore W4292219875C58207958 @default.
• W4292219875 hasConceptScore W4292219875C86803240 @default.
• W4292219875 hasConceptScore W4292219875C95444343 @default.
• W4292219875 hasIssue "1" @default.
• W4292219875 hasLocation W42922198751 @default.
• W4292219875 hasLocation W42922198752 @default.
• W4292219875 hasLocation W42922198753 @default.
• W4292219875 hasLocation W42922198754 @default.
• W4292219875 hasLocation W42922198755 @default.
• W4292219875 hasOpenAccess W4292219875 @default.
• W4292219875 hasPrimaryLocation W42922198751 @default.
• W4292219875 hasRelatedWork W2059324975 @default.
• W4292219875 hasRelatedWork W2070782595 @default.

• next