نتایج جستجو برای: factor ix gene

تعداد نتایج: 1816790  

Journal: :Circulation research 2016
Laura L Swystun David Lillicrap

Molecular genetic details of the human coagulation system were among the first successes of the genetic revolution in the 1980s. This information led to new molecular diagnostic strategies for inherited disorders of hemostasis and the development of recombinant clotting factors for the treatment of the common inherited bleeding disorders. A longer term goal of this knowledge has been the establ...

Journal: :Blood 2001
O D Christophe P J Lenting G Cherel M Boon-Spijker J M Lavergne R Boertjes M E Briquel A de Goede-Bolder J Goudemand S Gaillard R d'Oiron D Meyer K Mertens

Development of inhibitory antibodies is a serious complication of treatment with repeated factor IX infusions in a minority of patients with hemophilia B. Such antibodies detected in 8 patients have been characterized. Typing studies revealed that patients' immune response toward factor IX is highly heterogeneous and involves immunoglobulin G (IgG) antibodies, preferentially IgG1 and IgG4. The ...

Background: The induction of brain-derived neurotrophic factor (BDNF) expression in the hippocampus has shown to play a role in the beneficial effects of resveratrol (RSV) on the learning and memory. The BDNF gene has a complicated structure with eight 5’ noncoding exons (I-IXa), each of which can splice to a common coding exon (IX) to form a functional transcript. Estrogens increase levels of ...

Journal: :Journal of Biological Chemistry 1989

Journal: :Molecular pathology : MP 2002
D J Bowen

This review focuses on selected areas that should interest both the scientist and the clinician alike: polymorphisms within the factor VIII and factor IX genes, their linkage, and their ethnic variation; a general assessment of mutations within both genes and a detailed inspection of the molecular pathology of certain mutations to illustrate the diverse cause-effect relations that exist; a summ...

Journal: :The Journal of biological chemistry 1990
R M Bertina I K van der Linden P M Mannucci H H Reinalda-Poot R Cupers S R Poort P H Reitsma

Hemophilia Bm is characterized by a strikingly prolonged plasma ox brain prothrombin time. In an attempt to find an explanation for this phenomenon we have analyzed various aspects of the Bm variants factor IX Deventer, factor IX Milano, factor IX Novara, and factor IX Bergamo. Proteolytic cleavage by factor XIa was normal in two Bm variants, but absent at the Arg180-Val bond in the other two. ...

2005
Bruce Furie

Factor IX Chicago-2 and prothrombin Madrid were purified from patients with hemophilia B and congenital dysprothrombinemia. respectively. Each protein displays defects in zymogen activation secondary to the failure to cleave one of the sessile bonds whose cleavage is necessary for full coagulant activity. These proteins were isolated by immunoaffinity chromatography using conformation-specific ...

Journal: :Blood 2002
Anja Ehrhardt Mark A Kay

We have developed a new helper-dependent (HD) adenoviral vector FTC that contains 3 cis-acting sequences as stuffer DNA: a human fragment of alphoid repeat DNA, matrix-attachment regions (MARs), and the hepatocyte control region enhancer. To determine the most robust human coagulation factor IX (hFIX) expression cassette in an adenovirus, we first tested different hFIX expression sequences with...

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