Matches in SemOpenAlex for { <https://semopenalex.org/work/W3037891507> ?p ?o ?g. }
- W3037891507 endingPage "359" @default.
- W3037891507 startingPage "352" @default.
- W3037891507 abstract "PurposeBiliary atresia (BA) is a devastating obstructive bile duct disease of newborns. BA has the highest incidence in Asians (1/5000), and its pathogenesis is unclear. We identified BA-private rare copy number variants (CNVs; 22 duplications and 6 deletions). ILF2 gene locates in the chromosome region (Chr1:153410347–153,634,058) which was deleted in a nonsyndromic BA patient. However, it is still not known whether ILF2 plays a role in hepatobiliary development and its deletion impacts on the bile duct development.MethodsTo investigate if ILF2 is required for biliary development, we knock-out the zebrafish homologs of ILF2 by CRISPR/Cas9 approach, and discover that deletion of ILF2 causes a defective biliary development and a lack of bile flow from the liver to the gall bladder in zebrafish, which is a resemblance of phenotypes of BA.ResultsOur data indicate that ILF2 gene is required for biliary development; deletion of ILF2 impairs bile duct development and could contribute to BA pathogenesis. This will be the first study to functionally evaluate the genes interfered by BA-private CNVs in hepatobiliary development and in BA pathogenesis.ConclusionsSuch functional study may reveal the potential value of these BA-private CNVs in the disease pathogenesis for BA.Level of evidenceN/A (animal and laboratory study)." @default.
- W3037891507 created "2020-07-02" @default.
- W3037891507 creator A5019688266 @default.
- W3037891507 creator A5039322343 @default.
- W3037891507 creator A5049991611 @default.
- W3037891507 creator A5077768625 @default.
- W3037891507 creator A5083630061 @default.
- W3037891507 creator A5084899366 @default.
- W3037891507 date "2021-02-01" @default.
- W3037891507 modified "2023-10-14" @default.
- W3037891507 title "Deletion of interleukin enhancer binding factor 2 (ILF2) resulted in defective biliary development and bile flow blockage" @default.
- W3037891507 cites W1557386862 @default.
- W3037891507 cites W1646582854 @default.
- W3037891507 cites W1915704240 @default.
- W3037891507 cites W1952870715 @default.
- W3037891507 cites W1975612283 @default.
- W3037891507 cites W1982955522 @default.
- W3037891507 cites W1999009589 @default.
- W3037891507 cites W1999787047 @default.
- W3037891507 cites W2006256215 @default.
- W3037891507 cites W2008189854 @default.
- W3037891507 cites W2016820768 @default.
- W3037891507 cites W2017224987 @default.
- W3037891507 cites W2028373724 @default.
- W3037891507 cites W2048085771 @default.
- W3037891507 cites W2053416557 @default.
- W3037891507 cites W2058217451 @default.
- W3037891507 cites W2058803983 @default.
- W3037891507 cites W2066030187 @default.
- W3037891507 cites W2072109740 @default.
- W3037891507 cites W2077069470 @default.
- W3037891507 cites W2086782356 @default.
- W3037891507 cites W2120328543 @default.
- W3037891507 cites W2137169479 @default.
- W3037891507 cites W2143677057 @default.
- W3037891507 cites W2156527906 @default.
- W3037891507 cites W2165855230 @default.
- W3037891507 cites W2167935746 @default.
- W3037891507 cites W2168658808 @default.
- W3037891507 cites W2605966609 @default.
- W3037891507 cites W2613221770 @default.
- W3037891507 cites W2729371963 @default.
- W3037891507 cites W2751351410 @default.
- W3037891507 cites W2751516044 @default.
- W3037891507 cites W2890214243 @default.
- W3037891507 cites W2963035076 @default.
- W3037891507 cites W4245148160 @default.
- W3037891507 doi "https://doi.org/10.1016/j.jpedsurg.2020.06.032" @default.
- W3037891507 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32709532" @default.
- W3037891507 hasPublicationYear "2021" @default.
- W3037891507 type Work @default.
- W3037891507 sameAs 3037891507 @default.
- W3037891507 citedByCount "4" @default.
- W3037891507 countsByYear W30378915072021 @default.
- W3037891507 countsByYear W30378915072022 @default.
- W3037891507 crossrefType "journal-article" @default.
- W3037891507 hasAuthorship W3037891507A5019688266 @default.
- W3037891507 hasAuthorship W3037891507A5039322343 @default.
- W3037891507 hasAuthorship W3037891507A5049991611 @default.
- W3037891507 hasAuthorship W3037891507A5077768625 @default.
- W3037891507 hasAuthorship W3037891507A5083630061 @default.
- W3037891507 hasAuthorship W3037891507A5084899366 @default.
- W3037891507 hasConcept C104317684 @default.
- W3037891507 hasConcept C120821319 @default.
- W3037891507 hasConcept C126322002 @default.
- W3037891507 hasConcept C141231307 @default.
- W3037891507 hasConcept C142724271 @default.
- W3037891507 hasConcept C2776878037 @default.
- W3037891507 hasConcept C2779243279 @default.
- W3037891507 hasConcept C2779609443 @default.
- W3037891507 hasConcept C2779777945 @default.
- W3037891507 hasConcept C2780186670 @default.
- W3037891507 hasConcept C2780942790 @default.
- W3037891507 hasConcept C2911091166 @default.
- W3037891507 hasConcept C502942594 @default.
- W3037891507 hasConcept C54355233 @default.
- W3037891507 hasConcept C71924100 @default.
- W3037891507 hasConcept C86803240 @default.
- W3037891507 hasConcept C90924648 @default.
- W3037891507 hasConceptScore W3037891507C104317684 @default.
- W3037891507 hasConceptScore W3037891507C120821319 @default.
- W3037891507 hasConceptScore W3037891507C126322002 @default.
- W3037891507 hasConceptScore W3037891507C141231307 @default.
- W3037891507 hasConceptScore W3037891507C142724271 @default.
- W3037891507 hasConceptScore W3037891507C2776878037 @default.
- W3037891507 hasConceptScore W3037891507C2779243279 @default.
- W3037891507 hasConceptScore W3037891507C2779609443 @default.
- W3037891507 hasConceptScore W3037891507C2779777945 @default.
- W3037891507 hasConceptScore W3037891507C2780186670 @default.
- W3037891507 hasConceptScore W3037891507C2780942790 @default.
- W3037891507 hasConceptScore W3037891507C2911091166 @default.
- W3037891507 hasConceptScore W3037891507C502942594 @default.
- W3037891507 hasConceptScore W3037891507C54355233 @default.
- W3037891507 hasConceptScore W3037891507C71924100 @default.
- W3037891507 hasConceptScore W3037891507C86803240 @default.
- W3037891507 hasConceptScore W3037891507C90924648 @default.
- W3037891507 hasFunder F4320335055 @default.
- W3037891507 hasIssue "2" @default.