Matches in SemOpenAlex for { <https://semopenalex.org/work/W4361278001> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W4361278001 abstract "Background and aims: Dysplasminogenemia is a rare heritable disease caused by plasminogen (PLG) gene defects resulting in hypercoagulability. In this report we describe three notable cases of cerebral infarction (CI) complicated with dysplasminogenemia in young patients. Methods: Coagulation indices were examined on STAGO STA-R-MAX analyzer. PLG: A was analyzed using a chromogenic substrate-based approach using a chromogenic substrate method. All nineteen exons of PLG gene and their 5'and 3'flanking regions were amplified by Polymerase chain reaction (PCR). Suspected mutation was confirmed by reverse sequencing. Results: PLG activity (PLG:A) in proband 1 and 3 of his tested family members, proband 2 and 2 of his tested family members, and proband 3 and her father were all reduced to roughly 50% of normal levels. Sequencing led to the identification of a heterozygous c.1858G>A missense mutation in exon 15 of the PLG gene in these three patients and affected family members. Conclusion: We conclude that the observed reduction in PLG:A was the result of this p.Ala620Thr missense mutation in the PLG gene. The CI incidence in these probands may be attributable to the inhibition of normal fibrinolytic activity as a consequence of this heterozygous mutation." @default.
- W4361278001 created "2023-03-31" @default.
- W4361278001 creator A5002961378 @default.
- W4361278001 creator A5013140845 @default.
- W4361278001 creator A5028634345 @default.
- W4361278001 creator A5039983368 @default.
- W4361278001 creator A5044291050 @default.
- W4361278001 creator A5053902230 @default.
- W4361278001 creator A5076155990 @default.
- W4361278001 creator A5080425947 @default.
- W4361278001 creator A5082652766 @default.
- W4361278001 date "2023-03-30" @default.
- W4361278001 modified "2023-10-01" @default.
- W4361278001 title "Analysis of cerebral infarction caused by dysplasminogenemia in three pedigrees" @default.
- W4361278001 cites W1574973524 @default.
- W4361278001 cites W1834089839 @default.
- W4361278001 cites W1981417802 @default.
- W4361278001 cites W2019473568 @default.
- W4361278001 cites W2051978340 @default.
- W4361278001 cites W2057606632 @default.
- W4361278001 cites W2076603273 @default.
- W4361278001 cites W2412562532 @default.
- W4361278001 cites W2468541660 @default.
- W4361278001 cites W2729469293 @default.
- W4361278001 cites W3013399205 @default.
- W4361278001 cites W3031010513 @default.
- W4361278001 cites W565537114 @default.
- W4361278001 doi "https://doi.org/10.3389/fgene.2023.1132654" @default.
- W4361278001 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37065478" @default.
- W4361278001 hasPublicationYear "2023" @default.
- W4361278001 type Work @default.
- W4361278001 citedByCount "1" @default.
- W4361278001 countsByYear W43612780012023 @default.
- W4361278001 crossrefType "journal-article" @default.
- W4361278001 hasAuthorship W4361278001A5002961378 @default.
- W4361278001 hasAuthorship W4361278001A5013140845 @default.
- W4361278001 hasAuthorship W4361278001A5028634345 @default.
- W4361278001 hasAuthorship W4361278001A5039983368 @default.
- W4361278001 hasAuthorship W4361278001A5044291050 @default.
- W4361278001 hasAuthorship W4361278001A5053902230 @default.
- W4361278001 hasAuthorship W4361278001A5076155990 @default.
- W4361278001 hasAuthorship W4361278001A5080425947 @default.
- W4361278001 hasAuthorship W4361278001A5082652766 @default.
- W4361278001 hasBestOaLocation W43612780011 @default.
- W4361278001 hasConcept C104317684 @default.
- W4361278001 hasConcept C128463046 @default.
- W4361278001 hasConcept C153911025 @default.
- W4361278001 hasConcept C185592680 @default.
- W4361278001 hasConcept C188997412 @default.
- W4361278001 hasConcept C22593422 @default.
- W4361278001 hasConcept C36823959 @default.
- W4361278001 hasConcept C43617362 @default.
- W4361278001 hasConcept C501734568 @default.
- W4361278001 hasConcept C54355233 @default.
- W4361278001 hasConcept C71924100 @default.
- W4361278001 hasConcept C75563809 @default.
- W4361278001 hasConcept C86803240 @default.
- W4361278001 hasConceptScore W4361278001C104317684 @default.
- W4361278001 hasConceptScore W4361278001C128463046 @default.
- W4361278001 hasConceptScore W4361278001C153911025 @default.
- W4361278001 hasConceptScore W4361278001C185592680 @default.
- W4361278001 hasConceptScore W4361278001C188997412 @default.
- W4361278001 hasConceptScore W4361278001C22593422 @default.
- W4361278001 hasConceptScore W4361278001C36823959 @default.
- W4361278001 hasConceptScore W4361278001C43617362 @default.
- W4361278001 hasConceptScore W4361278001C501734568 @default.
- W4361278001 hasConceptScore W4361278001C54355233 @default.
- W4361278001 hasConceptScore W4361278001C71924100 @default.
- W4361278001 hasConceptScore W4361278001C75563809 @default.
- W4361278001 hasConceptScore W4361278001C86803240 @default.
- W4361278001 hasLocation W43612780011 @default.
- W4361278001 hasLocation W43612780012 @default.
- W4361278001 hasLocation W43612780013 @default.
- W4361278001 hasOpenAccess W4361278001 @default.
- W4361278001 hasPrimaryLocation W43612780011 @default.
- W4361278001 hasRelatedWork W2060169551 @default.
- W4361278001 hasRelatedWork W2349400098 @default.
- W4361278001 hasRelatedWork W2362650105 @default.
- W4361278001 hasRelatedWork W2365295063 @default.
- W4361278001 hasRelatedWork W2409341427 @default.
- W4361278001 hasRelatedWork W2419467758 @default.
- W4361278001 hasRelatedWork W24577188 @default.
- W4361278001 hasRelatedWork W3032164203 @default.
- W4361278001 hasRelatedWork W48866158 @default.
- W4361278001 hasRelatedWork W80739611 @default.
- W4361278001 hasVolume "14" @default.
- W4361278001 isParatext "false" @default.
- W4361278001 isRetracted "false" @default.
- W4361278001 workType "article" @default.