FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3215765122> ?p ?o ?g. }

• W3215765122 endingPage "473" @default.
• W3215765122 startingPage "465" @default.
• W3215765122 abstract "Genome wide-association studies (GWAS) have established over 400 breast cancer risk loci defined by common single nucleotide polymorphisms (SNPs), including several associated with estrogen-receptor (ER)-negative disease. Most of these loci have not been studied systematically and the mechanistic underpinnings of risk are largely unknown. Here we explored the landscape of genomic features at an ER-negative breast cancer susceptibility locus at chromosome 2p23.2 and assessed the functionality of 81 SNPs with strong evidence of association from previous fine mapping. Five candidate regulatory regions containing risk-associated SNPs were identified. Regulatory Region 1 in the first intron of WDR43 contains SNP rs4407214, which showed allele-specific interaction with the transcription factor USF1 in in vitro assays. CRISPR-mediated disruption of Regulatory Region 1 led to expression changes in the neighboring PLB1 gene, suggesting that the region acts as a distal enhancer. Regulatory Regions 2, 4, and 5 did not provide sufficient evidence for functionality in in silico and experimental analyses. Two SNPs (rs11680458 and rs1131880) in Regulatory Region 3, mapping to the seed region for miRNA-recognition sites in the 3' untranslated region of WDR43, showed allele-specific effects of ectopic expression of miR-376 on WDR43 expression levels. Taken together, our data suggest that risk of ER-negative breast cancer associated with the 2p23.2 locus is likely driven by a combinatorial effect on the regulation of WDR43 and PLB1." @default.
• W3215765122 created "2021-12-06" @default.
• W3215765122 creator A5010091432 @default.
• W3215765122 creator A5016908886 @default.
• W3215765122 creator A5025998488 @default.
• W3215765122 creator A5055473747 @default.
• W3215765122 creator A5067073844 @default.
• W3215765122 creator A5069902711 @default.
• W3215765122 creator A5073437963 @default.
• W3215765122 creator A5080479411 @default.
• W3215765122 creator A5086801886 @default.
• W3215765122 creator A5090013568 @default.
• W3215765122 date "2021-11-22" @default.
• W3215765122 modified "2023-10-09" @default.
• W3215765122 title "Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus" @default.
• W3215765122 cites W1504229889 @default.
• W3215765122 cites W2002715948 @default.
• W3215765122 cites W2010789111 @default.
• W3215765122 cites W2013627200 @default.
• W3215765122 cites W2018046598 @default.
• W3215765122 cites W2018363492 @default.
• W3215765122 cites W2048555922 @default.
• W3215765122 cites W2051816266 @default.
• W3215765122 cites W2064815984 @default.
• W3215765122 cites W2067442754 @default.
• W3215765122 cites W2069647037 @default.
• W3215765122 cites W2076914779 @default.
• W3215765122 cites W2079712106 @default.
• W3215765122 cites W2080834212 @default.
• W3215765122 cites W2084620487 @default.
• W3215765122 cites W2108560895 @default.
• W3215765122 cites W2114843025 @default.
• W3215765122 cites W2117505014 @default.
• W3215765122 cites W2118608526 @default.
• W3215765122 cites W2131597845 @default.
• W3215765122 cites W2132559433 @default.
• W3215765122 cites W2135665336 @default.
• W3215765122 cites W2141820415 @default.
• W3215765122 cites W2162110703 @default.
• W3215765122 cites W2166320441 @default.
• W3215765122 cites W2166810745 @default.
• W3215765122 cites W2194815878 @default.
• W3215765122 cites W2291123596 @default.
• W3215765122 cites W2336130565 @default.
• W3215765122 cites W2339358896 @default.
• W3215765122 cites W2375577403 @default.
• W3215765122 cites W2473057142 @default.
• W3215765122 cites W2516213001 @default.
• W3215765122 cites W2519527699 @default.
• W3215765122 cites W2593940628 @default.
• W3215765122 cites W2787461150 @default.
• W3215765122 cites W2902534318 @default.
• W3215765122 cites W2944727022 @default.
• W3215765122 cites W2944997709 @default.
• W3215765122 cites W2999883126 @default.
• W3215765122 cites W3036276896 @default.
• W3215765122 cites W3119005666 @default.
• W3215765122 doi "https://doi.org/10.1038/s41431-021-01005-6" @default.
• W3215765122 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34803163" @default.
• W3215765122 hasPublicationYear "2021" @default.
• W3215765122 type Work @default.
• W3215765122 sameAs 3215765122 @default.
• W3215765122 citedByCount "3" @default.
• W3215765122 countsByYear W32157651222022 @default.
• W3215765122 countsByYear W32157651222023 @default.
• W3215765122 crossrefType "journal-article" @default.
• W3215765122 hasAuthorship W3215765122A5010091432 @default.
• W3215765122 hasAuthorship W3215765122A5016908886 @default.
• W3215765122 hasAuthorship W3215765122A5025998488 @default.
• W3215765122 hasAuthorship W3215765122A5055473747 @default.
• W3215765122 hasAuthorship W3215765122A5067073844 @default.
• W3215765122 hasAuthorship W3215765122A5069902711 @default.
• W3215765122 hasAuthorship W3215765122A5073437963 @default.
• W3215765122 hasAuthorship W3215765122A5080479411 @default.
• W3215765122 hasAuthorship W3215765122A5086801886 @default.
• W3215765122 hasAuthorship W3215765122A5090013568 @default.
• W3215765122 hasBestOaLocation W32157651221 @default.
• W3215765122 hasConcept C104317684 @default.
• W3215765122 hasConcept C106208931 @default.
• W3215765122 hasConcept C111936080 @default.
• W3215765122 hasConcept C121608353 @default.
• W3215765122 hasConcept C135763542 @default.
• W3215765122 hasConcept C139275648 @default.
• W3215765122 hasConcept C153209595 @default.
• W3215765122 hasConcept C180754005 @default.
• W3215765122 hasConcept C2775905019 @default.
• W3215765122 hasConcept C530470458 @default.
• W3215765122 hasConcept C54355233 @default.
• W3215765122 hasConcept C84597430 @default.
• W3215765122 hasConcept C84606932 @default.
• W3215765122 hasConcept C86339819 @default.
• W3215765122 hasConcept C86803240 @default.
• W3215765122 hasConcept C97037327 @default.
• W3215765122 hasConceptScore W3215765122C104317684 @default.
• W3215765122 hasConceptScore W3215765122C106208931 @default.
• W3215765122 hasConceptScore W3215765122C111936080 @default.
• W3215765122 hasConceptScore W3215765122C121608353 @default.
• W3215765122 hasConceptScore W3215765122C135763542 @default.

• next