FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3033767525> ?p ?o ?g. }

• W3033767525 endingPage "2324" @default.
• W3033767525 startingPage "2313" @default.
• W3033767525 abstract "Abstract Factor I (FI) is one of the main inhibitors of complement activity, and numerous rare coding variants have been reported in patients with age-related macular degeneration, atypical hemolytic uremic syndrome and C3 glomerulopathy. Since many of these variants are of unknown clinical significance, this study aimed to determine the effect of rare coding variants in the complement factor I (CFI) gene on FI expression. We measured FI levels in plasma samples of carriers of rare coding variants and in vitro in the supernatants of epithelial cells expressing recombinant FI. FI levels were measured in 177 plasma samples of 155 individuals, carrying 24 different rare coding variants in CFI. In carriers of the variants p.Gly119Arg, p.Leu131Arg, p.Gly188Ala and c.772G&gt;A (r.685_773del), significantly reduced FI plasma levels were detected. Furthermore, recombinant FI expression levels were determined for 126 rare coding variants. Of these variants 68 (54%) resulted in significantly reduced FI expression in supernatant compared to wildtype (WT). The recombinant protein expression levels correlated significantly with the FI level in plasma of carriers of CFI variants. In this study, we performed the most comprehensive FI expression level analysis of rare coding variants in CFI to date. More than half of CFI variants lead to reduced FI expression, which might impair complement regulation in vivo. Our study will aid the interpretation of rare coding CFI variants identified in clinical practice, which is in particular important in light of patient inclusion in ongoing clinical trials for CFI gene supplementation in AMD." @default.
• W3033767525 created "2020-06-12" @default.
• W3033767525 creator A5003287268 @default.
• W3033767525 creator A5003498741 @default.
• W3033767525 creator A5003953321 @default.
• W3033767525 creator A5025137286 @default.
• W3033767525 creator A5046000826 @default.
• W3033767525 creator A5049656883 @default.
• W3033767525 creator A5054188308 @default.
• W3033767525 creator A5057862578 @default.
• W3033767525 creator A5069880565 @default.
• W3033767525 creator A5086926273 @default.
• W3033767525 creator A5088252343 @default.
• W3033767525 date "2020-06-08" @default.
• W3033767525 modified "2023-10-15" @default.
• W3033767525 title "Effect of rare coding variants in the CFI gene on Factor I expression levels" @default.
• W3033767525 cites W1486365785 @default.
• W3033767525 cites W1576495961 @default.
• W3033767525 cites W1686008017 @default.
• W3033767525 cites W1905447308 @default.
• W3033767525 cites W1930918755 @default.
• W3033767525 cites W2005969028 @default.
• W3033767525 cites W2033167260 @default.
• W3033767525 cites W2035137261 @default.
• W3033767525 cites W2059491558 @default.
• W3033767525 cites W2062890990 @default.
• W3033767525 cites W2073332428 @default.
• W3033767525 cites W2073579251 @default.
• W3033767525 cites W2082704740 @default.
• W3033767525 cites W2095512176 @default.
• W3033767525 cites W2097480181 @default.
• W3033767525 cites W2106675927 @default.
• W3033767525 cites W2115585762 @default.
• W3033767525 cites W2123753762 @default.
• W3033767525 cites W2135314071 @default.
• W3033767525 cites W2149943632 @default.
• W3033767525 cites W2151241196 @default.
• W3033767525 cites W2160226180 @default.
• W3033767525 cites W2167821466 @default.
• W3033767525 cites W2233221674 @default.
• W3033767525 cites W2238016187 @default.
• W3033767525 cites W2287827881 @default.
• W3033767525 cites W2412863605 @default.
• W3033767525 cites W2423420811 @default.
• W3033767525 cites W2560154882 @default.
• W3033767525 cites W2560241007 @default.
• W3033767525 cites W2733895036 @default.
• W3033767525 cites W2784050872 @default.
• W3033767525 cites W2790190164 @default.
• W3033767525 cites W2800697761 @default.
• W3033767525 cites W2808064981 @default.
• W3033767525 cites W2937641092 @default.
• W3033767525 cites W4211020962 @default.
• W3033767525 cites W4256101427 @default.
• W3033767525 doi "https://doi.org/10.1093/hmg/ddaa114" @default.
• W3033767525 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7424754" @default.
• W3033767525 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32510551" @default.
• W3033767525 hasPublicationYear "2020" @default.
• W3033767525 type Work @default.
• W3033767525 sameAs 3033767525 @default.
• W3033767525 citedByCount "32" @default.
• W3033767525 countsByYear W30337675252020 @default.
• W3033767525 countsByYear W30337675252021 @default.
• W3033767525 countsByYear W30337675252022 @default.
• W3033767525 countsByYear W30337675252023 @default.
• W3033767525 crossrefType "journal-article" @default.
• W3033767525 hasAuthorship W3033767525A5003287268 @default.
• W3033767525 hasAuthorship W3033767525A5003498741 @default.
• W3033767525 hasAuthorship W3033767525A5003953321 @default.
• W3033767525 hasAuthorship W3033767525A5025137286 @default.
• W3033767525 hasAuthorship W3033767525A5046000826 @default.
• W3033767525 hasAuthorship W3033767525A5049656883 @default.
• W3033767525 hasAuthorship W3033767525A5054188308 @default.
• W3033767525 hasAuthorship W3033767525A5057862578 @default.
• W3033767525 hasAuthorship W3033767525A5069880565 @default.
• W3033767525 hasAuthorship W3033767525A5086926273 @default.
• W3033767525 hasAuthorship W3033767525A5088252343 @default.
• W3033767525 hasBestOaLocation W30337675251 @default.
• W3033767525 hasConcept C104317684 @default.
• W3033767525 hasConcept C111684460 @default.
• W3033767525 hasConcept C14356644 @default.
• W3033767525 hasConcept C150194340 @default.
• W3033767525 hasConcept C153911025 @default.
• W3033767525 hasConcept C159654299 @default.
• W3033767525 hasConcept C179369057 @default.
• W3033767525 hasConcept C202751555 @default.
• W3033767525 hasConcept C207001950 @default.
• W3033767525 hasConcept C40767141 @default.
• W3033767525 hasConcept C54355233 @default.
• W3033767525 hasConcept C86803240 @default.
• W3033767525 hasConcept C91779695 @default.
• W3033767525 hasConceptScore W3033767525C104317684 @default.
• W3033767525 hasConceptScore W3033767525C111684460 @default.
• W3033767525 hasConceptScore W3033767525C14356644 @default.
• W3033767525 hasConceptScore W3033767525C150194340 @default.
• W3033767525 hasConceptScore W3033767525C153911025 @default.
• W3033767525 hasConceptScore W3033767525C159654299 @default.
• W3033767525 hasConceptScore W3033767525C179369057 @default.

• next