Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386496593> ?p ?o ?g. }
- W4386496593 endingPage "13809" @default.
- W4386496593 startingPage "13809" @default.
- W4386496593 abstract "Whole-exome sequencing (WES) in families with an unexplained tendency for venous thromboembolism (VTE) may favor detection of low-frequency variants in genes with known contribution to hemostasis or associated with VTE-related phenotypes. WES analysis in six family members, three of whom affected by documented VTE, filtered for MAF < 0.04 in 192 candidate genes, revealed 22 heterozygous (16 missense and six synonymous) variants in patients. Functional prediction by multi-component bioinformatics tools, implemented by a database/literature search, including ClinVar annotation and QTL analysis, prioritized 12 missense variants, three of which (CRP Leu61Pro, F2 Asn514Lys and NQO1 Arg139Trp) were present in all patients, and the frequent functional variants FGB Arg478Lys and IL1A Ala114Ser. Combinations of prioritized variants in each patient were used to infer functional protein interactions. Different interaction patterns, supported by high-quality evidence, included eight proteins intertwined in the acute phase (CRP, F2, SERPINA1 and IL1A) and/or in the fibrinogen complex (CRP, F2, PLAT, THBS1, VWF and FGB) significantly enriched terms. In a wide group of candidate genes, this approach highlighted six low-frequency variants (CRP Leu61Pro, F2 Asn514Lys, SERPINA1 Arg63Cys, THBS1 Asp901Glu, VWF Arg1399His and PLAT Arg164Trp), five of which were top ranked for predicted deleteriousness, which in different combinations may contribute to disease susceptibility in members of this family." @default.
- W4386496593 created "2023-09-07" @default.
- W4386496593 creator A5002162807 @default.
- W4386496593 creator A5006406707 @default.
- W4386496593 creator A5029202139 @default.
- W4386496593 creator A5034161065 @default.
- W4386496593 creator A5035081844 @default.
- W4386496593 creator A5044146928 @default.
- W4386496593 creator A5057403590 @default.
- W4386496593 creator A5060924409 @default.
- W4386496593 creator A5065749799 @default.
- W4386496593 creator A5086820793 @default.
- W4386496593 date "2023-09-07" @default.
- W4386496593 modified "2023-10-17" @default.
- W4386496593 title "Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction" @default.
- W4386496593 cites W101954876 @default.
- W4386496593 cites W1531281563 @default.
- W4386496593 cites W1535834464 @default.
- W4386496593 cites W1965958910 @default.
- W4386496593 cites W1969393140 @default.
- W4386496593 cites W1972058538 @default.
- W4386496593 cites W1995474189 @default.
- W4386496593 cites W2027228229 @default.
- W4386496593 cites W2033788627 @default.
- W4386496593 cites W2039971209 @default.
- W4386496593 cites W2041467022 @default.
- W4386496593 cites W2049731767 @default.
- W4386496593 cites W2066714422 @default.
- W4386496593 cites W2077119068 @default.
- W4386496593 cites W2079944343 @default.
- W4386496593 cites W2085445739 @default.
- W4386496593 cites W2093044302 @default.
- W4386496593 cites W2113046139 @default.
- W4386496593 cites W2130036963 @default.
- W4386496593 cites W2131520638 @default.
- W4386496593 cites W2133365876 @default.
- W4386496593 cites W2133971186 @default.
- W4386496593 cites W2160649149 @default.
- W4386496593 cites W2172965897 @default.
- W4386496593 cites W2269405856 @default.
- W4386496593 cites W2297994856 @default.
- W4386496593 cites W2318577668 @default.
- W4386496593 cites W2320717186 @default.
- W4386496593 cites W2590434670 @default.
- W4386496593 cites W2729870796 @default.
- W4386496593 cites W2765167996 @default.
- W4386496593 cites W2767880338 @default.
- W4386496593 cites W2775393828 @default.
- W4386496593 cites W2794153231 @default.
- W4386496593 cites W2889964659 @default.
- W4386496593 cites W2895111883 @default.
- W4386496593 cites W2908735444 @default.
- W4386496593 cites W2936956377 @default.
- W4386496593 cites W2955726832 @default.
- W4386496593 cites W2968081931 @default.
- W4386496593 cites W2971303409 @default.
- W4386496593 cites W2977807854 @default.
- W4386496593 cites W2986699706 @default.
- W4386496593 cites W3013150773 @default.
- W4386496593 cites W3027114882 @default.
- W4386496593 cites W3027583778 @default.
- W4386496593 cites W3032605465 @default.
- W4386496593 cites W3081528139 @default.
- W4386496593 cites W3082575318 @default.
- W4386496593 cites W3122994536 @default.
- W4386496593 cites W3133238721 @default.
- W4386496593 cites W3138821058 @default.
- W4386496593 cites W3196828891 @default.
- W4386496593 cites W3207122142 @default.
- W4386496593 cites W4200275771 @default.
- W4386496593 cites W4239490150 @default.
- W4386496593 cites W4297266084 @default.
- W4386496593 cites W4297977933 @default.
- W4386496593 cites W4313442267 @default.
- W4386496593 cites W4319317771 @default.
- W4386496593 cites W87579421 @default.
- W4386496593 doi "https://doi.org/10.3390/ijms241813809" @default.
- W4386496593 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37762110" @default.
- W4386496593 hasPublicationYear "2023" @default.
- W4386496593 type Work @default.
- W4386496593 citedByCount "0" @default.
- W4386496593 crossrefType "journal-article" @default.
- W4386496593 hasAuthorship W4386496593A5002162807 @default.
- W4386496593 hasAuthorship W4386496593A5006406707 @default.
- W4386496593 hasAuthorship W4386496593A5029202139 @default.
- W4386496593 hasAuthorship W4386496593A5034161065 @default.
- W4386496593 hasAuthorship W4386496593A5035081844 @default.
- W4386496593 hasAuthorship W4386496593A5044146928 @default.
- W4386496593 hasAuthorship W4386496593A5057403590 @default.
- W4386496593 hasAuthorship W4386496593A5060924409 @default.
- W4386496593 hasAuthorship W4386496593A5065749799 @default.
- W4386496593 hasAuthorship W4386496593A5086820793 @default.
- W4386496593 hasBestOaLocation W43864965931 @default.
- W4386496593 hasConcept C104317684 @default.
- W4386496593 hasConcept C10590036 @default.
- W4386496593 hasConcept C126322002 @default.
- W4386496593 hasConcept C127716648 @default.
- W4386496593 hasConcept C16671776 @default.