FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3041979538> ?p ?o ?g. }

• W3041979538 endingPage "627" @default.
• W3041979538 startingPage "619" @default.
• W3041979538 abstract "Abstract Introduction Congenital fibrinogen disorders (CFDs) comprise the quantitative and qualitative fibrinogen molecule abnormalities that are caused by fibrinogen gene mutations. The objective of this cohort research was to study the molecular and clinical profiles of patients with CFDs. Materials and methods Genomic DNA Sanger sequencing of 14 Iranian patients was performed to determine CFDs‐causing mutations. The disorders were diagnosed by routine and specific (fibrinogen antigen and functional assay) coagulation tests, and clinical data were obtained from medical records. Molecular dynamics (MD) simulations were performed to investigate the effect of missense mutation on the protein structure. Results Thirteen out of 14 patients had afibrinogenemia while the remaining patient had dysfibrinogenemia. Umbilical cord bleeding was the most common clinical presentation (n: 9, ~70%) which led to the diagnosis of afibrinogenemia, while menorrhagia led to the diagnosis of dysfibrinogenemia. Six homozygous mutations were identified in afibrinogenemia: three previously described variants in FGA (p.Trp52Ter, p.Ser312AlafsTer109 and p.Gly316GlufsTer105), one in FBG (p.Gly430Asp), and two novel mutations in FGB (p.Gly430Arg) and FGG (p.His366ThrfsTer40), while the FGA (p.Arg38Thr) heterozygous mutation was identified in dysfibrinogenemia. MD simulation indicated that the FGA p. Arg38Thr mutation probably interferes with polymerization of fibrin monomers. Conclusions In Iran, with its high rate of consanguinity, autosomal recessive afibrinogenemia with severe clinical presentations is relatively common due to heterogeneous molecular defects." @default.
• W3041979538 created "2020-07-16" @default.
• W3041979538 creator A5002502333 @default.
• W3041979538 creator A5008007537 @default.
• W3041979538 creator A5009700452 @default.
• W3041979538 creator A5017233881 @default.
• W3041979538 creator A5021441524 @default.
• W3041979538 creator A5023236506 @default.
• W3041979538 creator A5037750980 @default.
• W3041979538 creator A5044901045 @default.
• W3041979538 creator A5071525997 @default.
• W3041979538 creator A5083088838 @default.
• W3041979538 creator A5086037026 @default.
• W3041979538 date "2020-07-08" @default.
• W3041979538 modified "2023-10-18" @default.
• W3041979538 title "Molecular and clinical profile of congenital fibrinogen disorders in Iran, identification of two novel mutations" @default.
• W3041979538 cites W1519798613 @default.
• W3041979538 cites W1974970020 @default.
• W3041979538 cites W1978039741 @default.
• W3041979538 cites W1989872317 @default.
• W3041979538 cites W2012795074 @default.
• W3041979538 cites W2016022294 @default.
• W3041979538 cites W2024060531 @default.
• W3041979538 cites W2035266068 @default.
• W3041979538 cites W2037458235 @default.
• W3041979538 cites W2043928962 @default.
• W3041979538 cites W2068858946 @default.
• W3041979538 cites W2073159733 @default.
• W3041979538 cites W2080856060 @default.
• W3041979538 cites W2081693079 @default.
• W3041979538 cites W2098739073 @default.
• W3041979538 cites W2118338607 @default.
• W3041979538 cites W2144288821 @default.
• W3041979538 cites W2145237043 @default.
• W3041979538 cites W2307778533 @default.
• W3041979538 cites W2558138041 @default.
• W3041979538 cites W2588113294 @default.
• W3041979538 cites W2589494432 @default.
• W3041979538 cites W2767899475 @default.
• W3041979538 cites W2805977936 @default.
• W3041979538 cites W2810594854 @default.
• W3041979538 cites W2811376537 @default.
• W3041979538 cites W2895223884 @default.
• W3041979538 cites W4321059833 @default.
• W3041979538 doi "https://doi.org/10.1111/ijlh.13258" @default.
• W3041979538 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32639687" @default.
• W3041979538 hasPublicationYear "2020" @default.
• W3041979538 type Work @default.
• W3041979538 sameAs 3041979538 @default.
• W3041979538 citedByCount "5" @default.
• W3041979538 countsByYear W30419795382021 @default.
• W3041979538 countsByYear W30419795382022 @default.
• W3041979538 countsByYear W30419795382023 @default.
• W3041979538 crossrefType "journal-article" @default.
• W3041979538 hasAuthorship W3041979538A5002502333 @default.
• W3041979538 hasAuthorship W3041979538A5008007537 @default.
• W3041979538 hasAuthorship W3041979538A5009700452 @default.
• W3041979538 hasAuthorship W3041979538A5017233881 @default.
• W3041979538 hasAuthorship W3041979538A5021441524 @default.
• W3041979538 hasAuthorship W3041979538A5023236506 @default.
• W3041979538 hasAuthorship W3041979538A5037750980 @default.
• W3041979538 hasAuthorship W3041979538A5044901045 @default.
• W3041979538 hasAuthorship W3041979538A5071525997 @default.
• W3041979538 hasAuthorship W3041979538A5083088838 @default.
• W3041979538 hasAuthorship W3041979538A5086037026 @default.
• W3041979538 hasConcept C104317684 @default.
• W3041979538 hasConcept C126322002 @default.
• W3041979538 hasConcept C203014093 @default.
• W3041979538 hasConcept C2779036427 @default.
• W3041979538 hasConcept C2910029113 @default.
• W3041979538 hasConcept C2994225774 @default.
• W3041979538 hasConcept C501734568 @default.
• W3041979538 hasConcept C54173615 @default.
• W3041979538 hasConcept C54355233 @default.
• W3041979538 hasConcept C71924100 @default.
• W3041979538 hasConcept C75563809 @default.
• W3041979538 hasConcept C76818968 @default.
• W3041979538 hasConcept C86803240 @default.
• W3041979538 hasConcept C96777560 @default.
• W3041979538 hasConceptScore W3041979538C104317684 @default.
• W3041979538 hasConceptScore W3041979538C126322002 @default.
• W3041979538 hasConceptScore W3041979538C203014093 @default.
• W3041979538 hasConceptScore W3041979538C2779036427 @default.
• W3041979538 hasConceptScore W3041979538C2910029113 @default.
• W3041979538 hasConceptScore W3041979538C2994225774 @default.
• W3041979538 hasConceptScore W3041979538C501734568 @default.
• W3041979538 hasConceptScore W3041979538C54173615 @default.
• W3041979538 hasConceptScore W3041979538C54355233 @default.
• W3041979538 hasConceptScore W3041979538C71924100 @default.
• W3041979538 hasConceptScore W3041979538C75563809 @default.
• W3041979538 hasConceptScore W3041979538C76818968 @default.
• W3041979538 hasConceptScore W3041979538C86803240 @default.
• W3041979538 hasConceptScore W3041979538C96777560 @default.
• W3041979538 hasFunder F4320313199 @default.
• W3041979538 hasIssue "5" @default.
• W3041979538 hasLocation W30419795381 @default.
• W3041979538 hasOpenAccess W3041979538 @default.
• W3041979538 hasPrimaryLocation W30419795381 @default.

• next