FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3094657941> ?p ?o ?g. }

• W3094657941 abstract "Infectious and genetic factors are invoked, respectively in isolated biliary atresia (BA), or syndromic BA, with major extrahepatic anomalies. However, isolated BA is also associated with minor extrahepatic gut and cardiovascular anomalies and multiple susceptibility genes, suggesting common origins.We investigated novel susceptibility genes with genome-wide association, targeted sequencing and tissue staining in BA requiring liver transplantation, independent of BA subtype. Candidate gene effects on morphogenesis, developmental pathways, and ciliogenesis, which regulates left-right patterning were investigated with zebrafish knockdown and mouse knockout models, mouse airway cell cultures, and liver transcriptome analysis.Single nucleotide polymorphisms in Mannosidase-1-α-2 (MAN1A2) were significantly associated with BA and with other polymorphisms known to affect MAN1A2 expression but were not differentially enriched in either BA subtype. In zebrafish embryos, man1a2 knockdown caused poor biliary network formation, ciliary dysgenesis in Kupffer's vesicle, cardiac and liver heterotaxy, and dysregulated egfra and other developmental genes. Suboptimal man1a2 knockdown synergized with suboptimal EGFR signaling or suboptimal knockdown of the EGFR pathway gene, adenosine-ribosylation-factor-6, which had minimal effects individually, to reproduce biliary defects but not heterotaxy. In cultured mouse airway epithelium, Man1a2 knockdown arrested ciliary development and motility. Man1a2-/- mice, which experience respiratory failure, also demonstrated portal and bile ductular inflammation. Human BA liver and Man1a2-/- liver exhibited reduced Man1a2 expression and dysregulated ciliary genes, known to cause multisystem human laterality defects.BA requiring transplantation associates with sequence variants in MAN1A2. man1a2 regulates laterality, in addition to hepatobiliary morphogenesis, by regulating ciliogenesis in zebrafish and mice, providing a novel developmental basis for multisystem defects in BA." @default.
• W3094657941 created "2020-11-09" @default.
• W3094657941 creator A5003961154 @default.
• W3094657941 creator A5006405927 @default.
• W3094657941 creator A5007310584 @default.
• W3094657941 creator A5009504777 @default.
• W3094657941 creator A5013543270 @default.
• W3094657941 creator A5017541508 @default.
• W3094657941 creator A5018905420 @default.
• W3094657941 creator A5019992853 @default.
• W3094657941 creator A5022595874 @default.
• W3094657941 creator A5029054721 @default.
• W3094657941 creator A5030649700 @default.
• W3094657941 creator A5032510452 @default.
• W3094657941 creator A5034686477 @default.
• W3094657941 creator A5034836281 @default.
• W3094657941 creator A5040875615 @default.
• W3094657941 creator A5044556352 @default.
• W3094657941 creator A5045334489 @default.
• W3094657941 creator A5053138445 @default.
• W3094657941 creator A5054637743 @default.
• W3094657941 creator A5056036725 @default.
• W3094657941 creator A5063396453 @default.
• W3094657941 creator A5064568086 @default.
• W3094657941 creator A5064888394 @default.
• W3094657941 creator A5067453919 @default.
• W3094657941 creator A5068381719 @default.
• W3094657941 creator A5068401187 @default.
• W3094657941 creator A5073090043 @default.
• W3094657941 creator A5073988596 @default.
• W3094657941 creator A5077060343 @default.
• W3094657941 creator A5077995551 @default.
• W3094657941 creator A5080825917 @default.
• W3094657941 creator A5084207665 @default.
• W3094657941 creator A5086093973 @default.
• W3094657941 creator A5088244425 @default.
• W3094657941 date "2020-10-30" @default.
• W3094657941 modified "2023-10-15" @default.
• W3094657941 title "Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality" @default.
• W3094657941 cites W1635080883 @default.
• W3094657941 cites W1667833743 @default.
• W3094657941 cites W194259032 @default.
• W3094657941 cites W1972853455 @default.
• W3094657941 cites W1974826665 @default.
• W3094657941 cites W1975612283 @default.
• W3094657941 cites W1979771830 @default.
• W3094657941 cites W1987279648 @default.
• W3094657941 cites W1998469703 @default.
• W3094657941 cites W2005131237 @default.
• W3094657941 cites W2009007035 @default.
• W3094657941 cites W2013236045 @default.
• W3094657941 cites W2027211393 @default.
• W3094657941 cites W2036097053 @default.
• W3094657941 cites W2040469616 @default.
• W3094657941 cites W2043361233 @default.
• W3094657941 cites W2043842514 @default.
• W3094657941 cites W2044494707 @default.
• W3094657941 cites W2047161556 @default.
• W3094657941 cites W2053869099 @default.
• W3094657941 cites W2090631627 @default.
• W3094657941 cites W2095217415 @default.
• W3094657941 cites W2107788310 @default.
• W3094657941 cites W2112087830 @default.
• W3094657941 cites W2112473106 @default.
• W3094657941 cites W2118723944 @default.
• W3094657941 cites W2157453091 @default.
• W3094657941 cites W2161633633 @default.
• W3094657941 cites W2162585555 @default.
• W3094657941 cites W2164298117 @default.
• W3094657941 cites W2196995961 @default.
• W3094657941 cites W2333094269 @default.
• W3094657941 doi "https://doi.org/10.3389/fphys.2020.538701" @default.
• W3094657941 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7662016" @default.
• W3094657941 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33192543" @default.
• W3094657941 hasPublicationYear "2020" @default.
• W3094657941 type Work @default.
• W3094657941 sameAs 3094657941 @default.
• W3094657941 citedByCount "12" @default.
• W3094657941 countsByYear W30946579412021 @default.
• W3094657941 countsByYear W30946579412022 @default.
• W3094657941 countsByYear W30946579412023 @default.
• W3094657941 crossrefType "journal-article" @default.
• W3094657941 hasAuthorship W3094657941A5003961154 @default.
• W3094657941 hasAuthorship W3094657941A5006405927 @default.
• W3094657941 hasAuthorship W3094657941A5007310584 @default.
• W3094657941 hasAuthorship W3094657941A5009504777 @default.
• W3094657941 hasAuthorship W3094657941A5013543270 @default.
• W3094657941 hasAuthorship W3094657941A5017541508 @default.
• W3094657941 hasAuthorship W3094657941A5018905420 @default.
• W3094657941 hasAuthorship W3094657941A5019992853 @default.
• W3094657941 hasAuthorship W3094657941A5022595874 @default.
• W3094657941 hasAuthorship W3094657941A5029054721 @default.
• W3094657941 hasAuthorship W3094657941A5030649700 @default.
• W3094657941 hasAuthorship W3094657941A5032510452 @default.
• W3094657941 hasAuthorship W3094657941A5034686477 @default.
• W3094657941 hasAuthorship W3094657941A5034836281 @default.
• W3094657941 hasAuthorship W3094657941A5040875615 @default.
• W3094657941 hasAuthorship W3094657941A5044556352 @default.
• W3094657941 hasAuthorship W3094657941A5045334489 @default.
• W3094657941 hasAuthorship W3094657941A5053138445 @default.

• next