FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2892776445> ?p ?o ?g. }

• W2892776445 endingPage "1748" @default.
• W2892776445 startingPage "1733" @default.
• W2892776445 abstract "Background: Folate deficiency is an independent risk factor for congenital heart disease (CHD); however, the maternal plasma folate level is paradoxically not a good diagnostic marker. Genome-wide surveys have identified variants of nonfolate metabolic genes associated with the plasma folate level, suggesting that these genetic polymorphisms are potential risk factors for CHD. Methods: To examine the effects of folate concentration-related variations on CHD risk in the Han Chinese population, we performed 3 independent case-control studies including a total of 1489 patients with CHD and 1745 control subjects. The expression of the Fidgetin (FIGN) was detected in human cardiovascular and decidua tissue specimens with quantitative real-time polymerase chain reaction and Western blotting. The molecular mechanisms were investigated by luciferase reporter assays, surface plasmon resonance, and chromatin immunoprecipitation. FIGN-interacting proteins were confirmed by tandem affinity purification and coimmunoprecipitation. Proteasome activity and metabolite concentrations in the folate pathway were quantified with a commercial proteasome activity assay and immunoassays, respectively. Results: The +94762G>C (rs2119289) variant in intron 4 of the FIGN gene was associated with significant reduction in CHD susceptibility ( P =5.1×10 −14 for the allele, P =8.5×10 –−13 for the genotype). Analysis of combined samples indicated that CHD risks in individuals carrying heterozygous (GC) or homozygous (CC) genotypes were reduced by 44% (odds ratio [OR]=0.56; 95% confidence interval [CI]=0.47–0.67) and 66% (OR=0.34; 95% CI=0.23–0.50), respectively, compared with those with the major GG genotype. Minor C allele carriers who had decreased plasma folate levels exhibited significantly increased FIGN expression because the transcription suppressor CREB1 did not bind the alternative promoter of FIGN isoform X3. Mechanistically, increased FIGN expression led to the accumulation of both reduced folate carrier 1 and dihydrofolate reductase via inhibition of their proteasomal degradation, which promoted folate absorption and metabolism. Conclusions: We report a previously undocumented finding that decreased circulating folate levels induced by increased folate transmembrane transport and utilization, as determined by the FIGN intronic variant, serves as a protective mechanism against CHD. Our results may explain why circulating folate levels do not have a good diagnostic value." @default.
• W2892776445 created "2018-10-05" @default.
• W2892776445 creator A5000868352 @default.
• W2892776445 creator A5006340124 @default.
• W2892776445 creator A5006565364 @default.
• W2892776445 creator A5007054708 @default.
• W2892776445 creator A5011997530 @default.
• W2892776445 creator A5017702375 @default.
• W2892776445 creator A5037496448 @default.
• W2892776445 creator A5041841329 @default.
• W2892776445 creator A5058380236 @default.
• W2892776445 creator A5066052268 @default.
• W2892776445 creator A5070157648 @default.
• W2892776445 creator A5071779584 @default.
• W2892776445 date "2017-05-02" @default.
• W2892776445 modified "2023-10-14" @default.
• W2892776445 title "Lower Circulating Folate Induced by a Fidgetin Intronic Variant Is Associated With Reduced Congenital Heart Disease Susceptibility" @default.
• W2892776445 cites W1573300452 @default.
• W2892776445 cites W1835316267 @default.
• W2892776445 cites W1922615383 @default.
• W2892776445 cites W1966251853 @default.
• W2892776445 cites W2014905191 @default.
• W2892776445 cites W2026525880 @default.
• W2892776445 cites W2026882878 @default.
• W2892776445 cites W2031797970 @default.
• W2892776445 cites W2032300647 @default.
• W2892776445 cites W2033871452 @default.
• W2892776445 cites W2048368606 @default.
• W2892776445 cites W2048925478 @default.
• W2892776445 cites W2050200306 @default.
• W2892776445 cites W2052434733 @default.
• W2892776445 cites W2061278029 @default.
• W2892776445 cites W2064920938 @default.
• W2892776445 cites W2071208072 @default.
• W2892776445 cites W2074097478 @default.
• W2892776445 cites W2094941888 @default.
• W2892776445 cites W2097547549 @default.
• W2892776445 cites W2101259585 @default.
• W2892776445 cites W2106443056 @default.
• W2892776445 cites W2107519621 @default.
• W2892776445 cites W2108279225 @default.
• W2892776445 cites W2110016941 @default.
• W2892776445 cites W2113601582 @default.
• W2892776445 cites W2114773143 @default.
• W2892776445 cites W2119789921 @default.
• W2892776445 cites W2121509632 @default.
• W2892776445 cites W2129939721 @default.
• W2892776445 cites W2131205634 @default.
• W2892776445 cites W2148095569 @default.
• W2892776445 cites W2149129891 @default.
• W2892776445 cites W2149195756 @default.
• W2892776445 cites W2151548507 @default.
• W2892776445 cites W2156555817 @default.
• W2892776445 cites W2165715420 @default.
• W2892776445 cites W2168275698 @default.
• W2892776445 cites W2325954328 @default.
• W2892776445 cites W44429629 @default.
• W2892776445 doi "https://doi.org/10.1161/circulationaha.116.025164" @default.
• W2892776445 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28302752" @default.
• W2892776445 hasPublicationYear "2017" @default.
• W2892776445 type Work @default.
• W2892776445 sameAs 2892776445 @default.
• W2892776445 citedByCount "46" @default.
• W2892776445 countsByYear W28927764452017 @default.
• W2892776445 countsByYear W28927764452018 @default.
• W2892776445 countsByYear W28927764452019 @default.
• W2892776445 countsByYear W28927764452020 @default.
• W2892776445 countsByYear W28927764452021 @default.
• W2892776445 countsByYear W28927764452022 @default.
• W2892776445 countsByYear W28927764452023 @default.
• W2892776445 crossrefType "journal-article" @default.
• W2892776445 hasAuthorship W2892776445A5000868352 @default.
• W2892776445 hasAuthorship W2892776445A5006340124 @default.
• W2892776445 hasAuthorship W2892776445A5006565364 @default.
• W2892776445 hasAuthorship W2892776445A5007054708 @default.
• W2892776445 hasAuthorship W2892776445A5011997530 @default.
• W2892776445 hasAuthorship W2892776445A5017702375 @default.
• W2892776445 hasAuthorship W2892776445A5037496448 @default.
• W2892776445 hasAuthorship W2892776445A5041841329 @default.
• W2892776445 hasAuthorship W2892776445A5058380236 @default.
• W2892776445 hasAuthorship W2892776445A5066052268 @default.
• W2892776445 hasAuthorship W2892776445A5070157648 @default.
• W2892776445 hasAuthorship W2892776445A5071779584 @default.
• W2892776445 hasBestOaLocation W28927764451 @default.
• W2892776445 hasConcept C101762097 @default.
• W2892776445 hasConcept C104317684 @default.
• W2892776445 hasConcept C126322002 @default.
• W2892776445 hasConcept C134018914 @default.
• W2892776445 hasConcept C134320426 @default.
• W2892776445 hasConcept C135763542 @default.
• W2892776445 hasConcept C146304588 @default.
• W2892776445 hasConcept C150194340 @default.
• W2892776445 hasConcept C153911025 @default.
• W2892776445 hasConcept C156957248 @default.
• W2892776445 hasConcept C157410074 @default.
• W2892776445 hasConcept C180754005 @default.
• W2892776445 hasConcept C2908647359 @default.
• W2892776445 hasConcept C31467283 @default.

• next