Double-homozygosity for factor V Leiden and the prothrombin gene G20210A variant in a young patient with idiopathic venous thrombosis.
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چکیده
1. Fanelli M, Minucci S, Gelmetti V, Nervi C, Gambacorti-Passerini C, Pelicci PG: Constitutive degradation of PML/RARa through the proteasome pathway mediates retinoic acid resistance. Blood 93:1477, 1999 2. Bonn D: Targeting protein breakdown to treat cancer. Molec Med Today 5:48, 1999 3. Delic J, Masdehors P, Omura S, Cosset JM, Dumont J, Binet JL, Magdelenat H: The proteasome inhibitor lactacystin induces apoptosis and sensitizes chemoand radioresistant human chronic lymphocytic leukaemia lymphocytes to TNF-alpha-initiated apoptosis. Br J Cancer 77:1103, 1998 4. Wojcik C, Stoklosa T, Giermasz A, Golab J, Zagozdzon R, Kawiak J, Wilk S, Komar A, Kaca A, Malejczyk J, Jakobisiak M: Apoptosis induced in L1210 leukemia cells by an inhibitor of the chymotrypsin-like activity of the proteasome. Apoptosis 2:455, 1997 5. Lotan R, Ong DE, Chytil F: Comparison of the level of cellular retinoid-binding proteins and susceptibility to retinoid-induced growthinhibition of various neoplastic cell lines. J Nat Cancer Inst 64:1259, 1980 6. Moqattash S, Lutton JD, Chiao JW, Levere RD: Abolition of L1210 clonogeneticy and G1 arrest by retinoic acid and 1,25dihydroxyvitamin D3. Cancer Lett 27:125, 1985 7. Maeda Y, Horiuchi F, Miyatake J, Sono H, Tatsumi Y, Urase F, Irimajiri K, Horiuchi A: Inhibition of growth and induction of apoptosis by all-trans retinoic acid in lymphoid cell lines transfected with the PML/RAR alpha fusion gene. Br J Haematol 93:973, 1996 8. Darzynkiewicz Z, Kapuscinski J: Acridine orange: A versatile probe of nucleic acids and other cell constituents, in Melamed MR, Lindmo T, Mendelsohn ML (eds): Flow Cytometry and Cell Sorting (2 ed). New York, NY, Wiley-Liss, 1990, p 291 9. Sadoul R, Fernandez PA, Quiquerez AL, Martinou I, Maki M, Schroter M, Becherer JD, Irmler M, Tschopp J, Martinou JC: Involvement of the proteasome in the programmed cell death of NGF-deprived sympathetic neurons. EMBO J 15:3845, 1996 10. Grimm LM, Goldberg AL, Poirier GG, Schwartz LM, Osborne BA: Proteasomes play an essential role in thymocyte apoptosis. EMBO J 15:3835, 1996
منابع مشابه
Factor V Leiden, MTHFR C677T and Prothrombin Gene Mutation G20210A in Iranian Patients with Venous Thrombosis
Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out...
متن کاملFrequency of Factor V Leiden and Prothrombin Polymorphism in South of Iran
Normal hemostasis requires balanced regulation of prothrombotic and antithrombotic factors. Inherited alteration of factor V and prothrombin gene, the G20210A mutation, increases the resistance of factor V to degradation and booster production of prothrombin respectively. These alterations can increase hypercoagulability leading to thrombotic consequences. We aimed to assess the frequencies of ...
متن کاملGenetics Risk of Recurrent Venous Thrombosis in Homozygous Carriers and Double Heterozygous Carriers of Factor V Leiden and Prothrombin G20210A
Background—Homozygous or double heterozygous factor V Leiden and/or prothrombin G20210A is a rare inherited thrombophilic trait. Whether individuals with this genetic background have an increased risk of recurrent venous thrombosis is uncertain. Methods and Results—A case-control design within a large cohort of families with thrombophilia was chosen to calculate the risk of recurrent venous thr...
متن کاملRisk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A.
BACKGROUND Homozygous or double heterozygous factor V Leiden and/or prothrombin G20210A is a rare inherited thrombophilic trait. Whether individuals with this genetic background have an increased risk of recurrent venous thrombosis is uncertain. METHODS AND RESULTS A case-control design within a large cohort of families with thrombophilia was chosen to calculate the risk of recurrent venous t...
متن کاملFrequency of factor V Leiden (G1691A) and prothrombin (G20210A) polymorphisms in Population of Kerman Province, Iran
Background & Aims:Thromboembolism is an acute cardiovascular disease that ranges from clinically unimportant to massive embolism. Both acquired and hereditary risk factors contribute to the disease. We aimed to determine the prevalence of two hereditary predisposing factor of the disease, prothrombin G20210A and factor V Leiden (G1691A) polymorphisms, in Kerman population.<br /...
متن کاملVenous thromboembolism in a young woman with combined homozygosity for factor V Leiden and prothrombin G20210A mutations.
Thrombophilia involves genetic and acquired conditions that increase the risk of venous thromboembolism (VTE). During the last decade, the identification of thrombophilic defects has increased from less than 10% to approximately 50% of patients presenting with unprovoked VTE. The factor V Arg506Gln (factor V Leiden) and the prothrombin G20210A mutations are the most prevalent abnormalities, fou...
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ورودعنوان ژورنال:
- Blood
دوره 94 5 شماره
صفحات -
تاریخ انتشار 1999