Matches in SemOpenAlex for { <https://semopenalex.org/work/W3134735269> ?p ?o ?g. }
- W3134735269 endingPage "102241" @default.
- W3134735269 startingPage "102241" @default.
- W3134735269 abstract "Genome-wide association studies for calcific aortic valve stenosis (CAVS) previously reported strong signal for noncoding variants at 1p21.2. Previous study using Mendelian randomization suggested that the locus controls the expression of PALMD encoding Palmdelphin (PALMD). However, the molecular regulation at the locus and the impact of PALMD on the biology of the aortic valve is presently unknown. 3D genetic mapping and CRISPR activation identified rs6702619 as being located in a distant-acting enhancer, which controls the expression of PALMD. DNA-binding assay showed that the risk variant modified the DNA shape, which prevented the recruitment of NFATC2 and lowered the expression of PALMD. In co-expression network analysis, a module encompassing PALMD was enriched in actin-based process. Mass spectrometry and functional assessment showed that PALMD is a regulator of actin polymerization. In turn, lower level of PALMD promoted the activation of myocardin-related transcription factor and fibrosis, a key pathobiological process underpinning CAVS." @default.
- W3134735269 created "2021-03-15" @default.
- W3134735269 creator A5002573941 @default.
- W3134735269 creator A5015472170 @default.
- W3134735269 creator A5017301908 @default.
- W3134735269 creator A5029282130 @default.
- W3134735269 creator A5045790697 @default.
- W3134735269 creator A5052600804 @default.
- W3134735269 creator A5063230757 @default.
- W3134735269 creator A5066920785 @default.
- W3134735269 creator A5071026604 @default.
- W3134735269 creator A5073388960 @default.
- W3134735269 creator A5077109568 @default.
- W3134735269 creator A5077744398 @default.
- W3134735269 creator A5080185466 @default.
- W3134735269 creator A5081112788 @default.
- W3134735269 date "2021-03-01" @default.
- W3134735269 modified "2023-10-17" @default.
- W3134735269 title "Enhancer-associated aortic valve stenosis risk locus 1p21.2 alters NFATC2 binding site and promotes fibrogenesis" @default.
- W3134735269 cites W1509578353 @default.
- W3134735269 cites W1521574455 @default.
- W3134735269 cites W1606727311 @default.
- W3134735269 cites W1740485169 @default.
- W3134735269 cites W1970764623 @default.
- W3134735269 cites W1972792790 @default.
- W3134735269 cites W1979594866 @default.
- W3134735269 cites W1985551247 @default.
- W3134735269 cites W1990564989 @default.
- W3134735269 cites W2004798786 @default.
- W3134735269 cites W2012627860 @default.
- W3134735269 cites W2021554725 @default.
- W3134735269 cites W2070021921 @default.
- W3134735269 cites W2116119665 @default.
- W3134735269 cites W2116868464 @default.
- W3134735269 cites W2135594641 @default.
- W3134735269 cites W2137154596 @default.
- W3134735269 cites W2160573720 @default.
- W3134735269 cites W2171122741 @default.
- W3134735269 cites W2326187533 @default.
- W3134735269 cites W2343393522 @default.
- W3134735269 cites W2523285811 @default.
- W3134735269 cites W2525009692 @default.
- W3134735269 cites W2559699708 @default.
- W3134735269 cites W2585117864 @default.
- W3134735269 cites W2587481461 @default.
- W3134735269 cites W2604500500 @default.
- W3134735269 cites W2617605538 @default.
- W3134735269 cites W2754477979 @default.
- W3134735269 cites W2766435239 @default.
- W3134735269 cites W2775393828 @default.
- W3134735269 cites W2795030131 @default.
- W3134735269 cites W2950772595 @default.
- W3134735269 cites W2951354947 @default.
- W3134735269 cites W3081714385 @default.
- W3134735269 doi "https://doi.org/10.1016/j.isci.2021.102241" @default.
- W3134735269 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7970363" @default.
- W3134735269 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33748722" @default.
- W3134735269 hasPublicationYear "2021" @default.
- W3134735269 type Work @default.
- W3134735269 sameAs 3134735269 @default.
- W3134735269 citedByCount "7" @default.
- W3134735269 countsByYear W31347352692021 @default.
- W3134735269 countsByYear W31347352692022 @default.
- W3134735269 countsByYear W31347352692023 @default.
- W3134735269 crossrefType "journal-article" @default.
- W3134735269 hasAuthorship W3134735269A5002573941 @default.
- W3134735269 hasAuthorship W3134735269A5015472170 @default.
- W3134735269 hasAuthorship W3134735269A5017301908 @default.
- W3134735269 hasAuthorship W3134735269A5029282130 @default.
- W3134735269 hasAuthorship W3134735269A5045790697 @default.
- W3134735269 hasAuthorship W3134735269A5052600804 @default.
- W3134735269 hasAuthorship W3134735269A5063230757 @default.
- W3134735269 hasAuthorship W3134735269A5066920785 @default.
- W3134735269 hasAuthorship W3134735269A5071026604 @default.
- W3134735269 hasAuthorship W3134735269A5073388960 @default.
- W3134735269 hasAuthorship W3134735269A5077109568 @default.
- W3134735269 hasAuthorship W3134735269A5077744398 @default.
- W3134735269 hasAuthorship W3134735269A5080185466 @default.
- W3134735269 hasAuthorship W3134735269A5081112788 @default.
- W3134735269 hasBestOaLocation W31347352691 @default.
- W3134735269 hasConcept C104317684 @default.
- W3134735269 hasConcept C111936080 @default.
- W3134735269 hasConcept C137620995 @default.
- W3134735269 hasConcept C153911025 @default.
- W3134735269 hasConcept C185592680 @default.
- W3134735269 hasConcept C54355233 @default.
- W3134735269 hasConcept C84597430 @default.
- W3134735269 hasConcept C86339819 @default.
- W3134735269 hasConcept C86803240 @default.
- W3134735269 hasConcept C95444343 @default.
- W3134735269 hasConceptScore W3134735269C104317684 @default.
- W3134735269 hasConceptScore W3134735269C111936080 @default.
- W3134735269 hasConceptScore W3134735269C137620995 @default.
- W3134735269 hasConceptScore W3134735269C153911025 @default.
- W3134735269 hasConceptScore W3134735269C185592680 @default.
- W3134735269 hasConceptScore W3134735269C54355233 @default.
- W3134735269 hasConceptScore W3134735269C84597430 @default.
- W3134735269 hasConceptScore W3134735269C86339819 @default.