FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4206048275> ?p ?o ?g. }

• W4206048275 endingPage "55" @default.
• W4206048275 startingPage "49" @default.
• W4206048275 abstract "Venous thromboembolism (VTE) is a common health problem, causing considerable morbidity and mortality. The incidence of VTE is higher in pregnant women than in those who are not pregnant. However, genetic factors for VTE in pregnant women are largely unknown.We performed a large-scale prospective cohort study of 65,138 pregnancies. 24 pregnant patients diagnosed with VTE and 24 matched pregnant women without VTE were enrolled and sequenced by whole exome sequencing. We investigated the occurrence of known VTE risk variants, damaging variants found in thrombophilia genes and rare damaging variants possibly related to VTE in pregnancies. An exome-wide association study was also performed using a case-control design.Our findings suggest that VTE in pregnancies may be mainly related to (i) the presence of known pathogenic variants in affected individual like F2, (ii) possibly damaging variants found in major thrombophilia gene GCKR, and (iii) 1 pathogenic and 13 likely pathogenic rare damaging variants associated with genetic errors. In exome-wide association stage, 42 variants at 34 genes may show suggestive associations with VTE in pregnancies (the lowest P = 3.5 × 10-7). ZFP41 (rs6558339, P = 8.85 × 10-5) in 24 patients were the only exonic missense variant.The combined findings suggest that some genes may be involved in the mechanism of basement membranes, sterol accumulation and atherosclerosis, lipid metabolism and coagulation deficiency. These identified risk variants may improve the understanding of VTE pathogenesis in pregnancies and provide potential biomarker for development of clinical diagnosis." @default.
• W4206048275 created "2022-01-25" @default.
• W4206048275 creator A5011864186 @default.
• W4206048275 creator A5045203230 @default.
• W4206048275 creator A5048480759 @default.
• W4206048275 creator A5050906278 @default.
• W4206048275 creator A5064555523 @default.
• W4206048275 creator A5073326366 @default.
• W4206048275 creator A5075201276 @default.
• W4206048275 creator A5083198820 @default.
• W4206048275 creator A5086664284 @default.
• W4206048275 creator A5087236737 @default.
• W4206048275 date "2022-03-01" @default.
• W4206048275 modified "2023-09-27" @default.
• W4206048275 title "Whole exome sequencing identifies genetic variants in Chinese Han pregnant women with venous thromboembolism" @default.
• W4206048275 cites W106352447 @default.
• W4206048275 cites W1511946710 @default.
• W4206048275 cites W1893479320 @default.
• W4206048275 cites W1967796099 @default.
• W4206048275 cites W1968925586 @default.
• W4206048275 cites W1972058538 @default.
• W4206048275 cites W1986479827 @default.
• W4206048275 cites W2019963889 @default.
• W4206048275 cites W2023453938 @default.
• W4206048275 cites W2024761240 @default.
• W4206048275 cites W2037079095 @default.
• W4206048275 cites W2051978340 @default.
• W4206048275 cites W2057784304 @default.
• W4206048275 cites W2061001265 @default.
• W4206048275 cites W2064924844 @default.
• W4206048275 cites W2076295840 @default.
• W4206048275 cites W2079944343 @default.
• W4206048275 cites W2084350813 @default.
• W4206048275 cites W2084681717 @default.
• W4206048275 cites W2090630023 @default.
• W4206048275 cites W2122674447 @default.
• W4206048275 cites W2133365876 @default.
• W4206048275 cites W2160582822 @default.
• W4206048275 cites W2164574921 @default.
• W4206048275 cites W2320717186 @default.
• W4206048275 cites W2335443501 @default.
• W4206048275 cites W2533282048 @default.
• W4206048275 cites W2580887223 @default.
• W4206048275 cites W2729870796 @default.
• W4206048275 cites W2763954052 @default.
• W4206048275 cites W2766726705 @default.
• W4206048275 cites W3009246199 @default.
• W4206048275 cites W3013564565 @default.
• W4206048275 cites W3037291514 @default.
• W4206048275 cites W3047621289 @default.
• W4206048275 cites W3050139559 @default.
• W4206048275 cites W3164381268 @default.
• W4206048275 cites W3185569655 @default.
• W4206048275 doi "https://doi.org/10.1016/j.thromres.2022.01.015" @default.
• W4206048275 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35074609" @default.
• W4206048275 hasPublicationYear "2022" @default.
• W4206048275 type Work @default.
• W4206048275 citedByCount "1" @default.
• W4206048275 countsByYear W42060482752023 @default.
• W4206048275 crossrefType "journal-article" @default.
• W4206048275 hasAuthorship W4206048275A5011864186 @default.
• W4206048275 hasAuthorship W4206048275A5045203230 @default.
• W4206048275 hasAuthorship W4206048275A5048480759 @default.
• W4206048275 hasAuthorship W4206048275A5050906278 @default.
• W4206048275 hasAuthorship W4206048275A5064555523 @default.
• W4206048275 hasAuthorship W4206048275A5073326366 @default.
• W4206048275 hasAuthorship W4206048275A5075201276 @default.
• W4206048275 hasAuthorship W4206048275A5083198820 @default.
• W4206048275 hasAuthorship W4206048275A5086664284 @default.
• W4206048275 hasAuthorship W4206048275A5087236737 @default.
• W4206048275 hasConcept C104317684 @default.
• W4206048275 hasConcept C10590036 @default.
• W4206048275 hasConcept C126322002 @default.
• W4206048275 hasConcept C146304588 @default.
• W4206048275 hasConcept C16671776 @default.
• W4206048275 hasConcept C2780673598 @default.
• W4206048275 hasConcept C2780842393 @default.
• W4206048275 hasConcept C2780868729 @default.
• W4206048275 hasConcept C501734568 @default.
• W4206048275 hasConcept C54355233 @default.
• W4206048275 hasConcept C60644358 @default.
• W4206048275 hasConcept C71924100 @default.
• W4206048275 hasConcept C75563809 @default.
• W4206048275 hasConcept C86803240 @default.
• W4206048275 hasConceptScore W4206048275C104317684 @default.
• W4206048275 hasConceptScore W4206048275C10590036 @default.
• W4206048275 hasConceptScore W4206048275C126322002 @default.
• W4206048275 hasConceptScore W4206048275C146304588 @default.
• W4206048275 hasConceptScore W4206048275C16671776 @default.
• W4206048275 hasConceptScore W4206048275C2780673598 @default.
• W4206048275 hasConceptScore W4206048275C2780842393 @default.
• W4206048275 hasConceptScore W4206048275C2780868729 @default.
• W4206048275 hasConceptScore W4206048275C501734568 @default.
• W4206048275 hasConceptScore W4206048275C54355233 @default.
• W4206048275 hasConceptScore W4206048275C60644358 @default.
• W4206048275 hasConceptScore W4206048275C71924100 @default.
• W4206048275 hasConceptScore W4206048275C75563809 @default.
• W4206048275 hasConceptScore W4206048275C86803240 @default.

• next