mRNA amount and expression in a stable reporter gene assay system efficiency and modulates effects of the 20210G>A polymorphism on The intronic prothrombin 19911A>G polymorphism influences splicing

نویسندگان

  • Michael Oellerich
  • Nicolas von Ahsen
چکیده

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HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY The intronic prothrombin 19911A G polymorphism influences splicing efficiency and modulates effects of the 20210G A polymorphism on mRNA amount and expression in a stable reporter gene assay system

The common prothrombin gene cleavage site mutation 20210G>A is associated with elevated prothrombin levels and thrombosis. The pathomechanism of the 20210G>A mutation was explained by increased mRNA formation and/or more efficient translation. Human studies also showed an influence of the intronic 19911A>G polymorphism on prothrombin activity. We established HepG2 cell lines stably transfected ...

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[The 20210G>A and 19911A>G polymorphisms of prothrombin gene and recurrent miscarriages].

OBJECTIVES The aim of the study was to evaluate the frequency of 20210G>A and 19911A>G prothrombin gene polymorphisms in a group of women with 2 or more miscarriages in the first trimester of pregnancy MATERIAL AND METHODS The study involved 150 women with two or more miscarriages in the first trimester of pregnancy (mean age 31.5 +/- 4.1 years). The control group consisted of 180 healthy wom...

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Restoration of correct splicing in IVSI-110 mutation of β-globin gene with antisense oligonucleotides: implications and applications in functional assay development

Objective(s): The use of antisense oligonucleotides (AOs) to restore normal splicing by blocking the recognition of aberrant splice sites by the spliceosome represents an innovative means of potentially controlling certain inherited disorders affected by aberrant splicing. Selection of the appropriate target site is essential in the success of an AO therapy. In this study, in search for a splic...

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Prothrombin G20210A is a bifunctional gene polymorphism.

The G20210A polymorphism has been shown to alter the efficiency of prothrombin mRNA processing. Here we show that the G20210A mutation also alters prothrombin mRNA stability. Three-fold more prothrombin protein and mRNA were produced in NIH-3T3 cells transfected with the prothrombin cDNAs containing the 20210A variant compared to cells expressing the 20210G variant. mRNA stability assays using ...

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A New Reporter Gene Technology: Opportunities and Perspectives

The paper summarizes the current status of the reporter gene technology and their basics. Reporter gene technology is widely used to monitor cellular events associated with gene expression and signal transduction. Based upon the splicing of transcriptional control elements to a variety of reporter genes, it “reports” the effects of a cascade of signaling events on gene expression inside cells. ...

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تاریخ انتشار 2003