SEARCH:   Advanced

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Williamson, D. Articles by Baglin, T. Search for Related Content PubMed PubMed Citation Articles by Williamson, D. Articles by Baglin, T. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Factor V Cambridge: A New Mutation (Arg306Thr) Associated With Resistance to Activated Protein C David Williamson, Karen Brown, Roger Luddington, Caroline Baglin, and Trevor Baglin From the Department of Haematology, Addenbrooke's NHS Trust, Cambridge, UK. A new factor V mutation associated with resistance to activated protein C and thrombosis (factor V Cambridge, Arg306Thr) was found in one patient from a carefully selected group of 17 patients with venous thrombosis and confirmed APC resistance in the absence of the common Gln506 mutation. The Arg306 mutation was also present in a first degree relative who also had APC resistance. Other potential causes of APC resistance, such as a mutation at the Arg679 site and the factor V HR2 haplotype, were excluded. Subsequent screening of 585 patients with venous thromboembolism and 226 blood donors did not show any other individual with this mutation. Factor VThr306 is the first description of a mutation affecting the Arg306 APC cleavage site and is the only mutation, other than factor V Leiden (Arg506Gln), that has been found in association with APC resistance. This finding confirms the physiologic importance of the Arg306 APC-cleavage site in the regulation of the prothrombinase complex. It also supports the concept that APC resistance and venous thrombosis can result from a variety of genetic mutations affecting critical sites in the factor V cofactor. Blood, Vol. 91 No. 4 (February 15), 1998: pp. 1140-1144 © 1998 by The American Society of Hematology. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: S. Tran, E. Norstrom, and B. Dahlback Effects of Prothrombin on the Individual Activated Protein C-mediated Cleavages of Coagulation Factor Va J. Biol. Chem., March 14, 2008; 283(11): 6648 - 6655. [Abstract] [Full Text] [PDF] F. Dawood, R. Mountford, R. Farquharson, and S. Quenby Genetic polymorphisms on the factor V gene in women with recurrent miscarriage and acquired APCR Hum. Reprod., September 1, 2007; 22(9): 2546 - 2553. [Abstract] [Full Text] [PDF] K. R. Viel, D. K. Machiah, D. M. Warren, M. Khachidze, A. Buil, K. Fernstrom, J. C. Souto, J. M. Peralta, T. Smith, J. Blangero, et al. A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels Blood, May 1, 2007; 109(9): 3713 - 3724. [Abstract] [Full Text] [PDF] E. A. Norstrom, S. Tran, M. Steen, and B. Dahlback Effects of Factor Xa and Protein S on the Individual Activated Protein C-mediated Cleavages of Coagulation Factor Va J. Biol. Chem., October 20, 2006; 281(42): 31486 - 31494. [Abstract] [Full Text] [PDF] R. L. Bick Hereditary and Acquired Thrombophilic Disorders Clinical and Applied Thrombosis/Hemostasis, April 1, 2006; 12(2): 125 - 135. [PDF] B. S. Donahue The Response to Activated Protein C After Cardiopulmonary Bypass: Impact of Factor V Leiden Anesth. Analg., December 1, 2004; 99(6): 1598 - 1603. [Abstract] [Full Text] [PDF] N. Sayinalp, I. C. Haznedaroglu, S. Aksu, Y. Buyukasik, H. Goker, H. Parlak, O. I. Ozcebe, S. Kirazli, S. V. Dundar, and A. Gurgey The Predictability of Factor V Leiden (FV:Q506) Gene Mutation via Clotting-Based Diagnosis of Activated Protein C Resistance Clinical and Applied Thrombosis/Hemostasis, July 1, 2004; 10(3): 265 - 270. [Abstract] [PDF] B. S. Donahue Factor V Leiden and Perioperative Risk Anesth. Analg., June 1, 2004; 98(6): 1623 - 1634. [Abstract] [Full Text] [PDF] E. Castoldi, J. M. Brugge, G. A. F. Nicolaes, D. Girelli, G. Tans, and J. Rosing Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations Blood, June 1, 2004; 103(11): 4173 - 4179. [Abstract] [Full Text] [PDF] M. Steen, E. A. Norstrom, A.-L. Tholander, P. H. B. Bolton-Maggs, A. Mumford, J. H. McVey, E. G. D. Tuddenham, and B. Dahlback Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis Blood, May 1, 2004; 103(9): 3381 - 3387. [Abstract] [Full Text] [PDF] M. van der Neut Kolfschoten, R. J. Dirven, H. L. Vos, G. Tans, J. Rosing, and R. M. Bertina Factor Va Is Inactivated by Activated Protein C in the Absence of Cleavage Sites at Arg-306, Arg-506, and Arg-679 J. Biol. Chem., February 20, 2004; 279(8): 6567 - 6575. [Abstract] [Full Text] [PDF] D. Scanavini, D. Girelli, B. Lunghi, N. Martinelli, C. Legnani, M. Pinotti, G. Palareti, and F. Bernardi Modulation of Factor V Levels in Plasma by Polymorphisms in the C2 Domain Arterioscler. Thromb. Vasc. Biol., January 1, 2004; 24(1): 200 - 206. [Abstract] [Full Text] [PDF] B. A. Kerlin, S. B. Yan, B. H. Isermann, J. T. Brandt, R. Sood, B. R. Basson, D. E. Joyce, H. Weiler, and J.-F. Dhainaut Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia Blood, November 1, 2003; 102(9): 3085 - 3092. [Abstract] [Full Text] [PDF] K. G. Mann and M. Kalafatis Factor V: a combination of Dr Jekyll and Mr Hyde Blood, January 1, 2003; 101(1): 20 - 30. [Full Text] [PDF] J. M. Soria, L. Almasy, J. C. Souto, A. Buil, E. Martinez-Sanchez, J. Mateo, M. Borrell, W. H. Stone, M. Lathrop, J. Fontcuberta, et al. A new locus on chromosome 18 that influences normal variation in activated protein C resistance phenotype and factor VIII activity and its relation to thrombosis susceptibility Blood, January 1, 2003; 101(1): 163 - 167. [Abstract] [Full Text] [PDF] E. Norstrom, E. Thorelli, and B. Dahlback Functional characterization of recombinant FV Hong Kong and FV Cambridge Blood, June 28, 2002; 100(2): 524 - 530. [Abstract] [Full Text] [PDF] G. A.F. Nicolaes and B. Dahlback Factor V and Thrombotic Disease: Description of a Janus-Faced Protein Arterioscler. Thromb. Vasc. Biol., April 1, 2002; 22(4): 530 - 538. [Abstract] [Full Text] [PDF] R. H. Thomas Hypercoagulability Syndromes Arch Intern Med, November 12, 2001; 161(20): 2433 - 2439. [Abstract] [Full Text] [PDF] R. Rai, A. Shlebak, H. Cohen, M. Backos, Z. Holmes, K. Marriott, and L. Regan Factor V Leiden and acquired activated protein C resistance among 1000 women with recurrent miscarriage Hum. Reprod., May 1, 2001; 16(5): 961 - 965. [Abstract] [Full Text] [PDF] U. Seligsohn and A. Lubetsky Genetic Susceptibility to Venous Thrombosis N. Engl. J. Med., April 19, 2001; 344(16): 1222 - 1231. [Full Text] [PDF] J. Parker, A. Pagliuca, T. Kitiyakara, M. Whitehead, N. Heaton, J. O'Grady, and R. Arya Discrepancy between phenotype and genotype on screening for factor V Leiden after transplantation Blood, April 15, 2001; 97(8): 2525 - 2526. [Full Text] [PDF] I. D Walker Thrombophilia in pregnancy J. Clin. Pathol., August 1, 2000; 53(8): 573 - 580. [Abstract] [Full Text] [PDF] D. A. Lane and P. J. Grant Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease Blood, March 1, 2000; 95(5): 1517 - 1532. [Full Text] [PDF] R. P. Murphy, C. Donoghue, R. J. Nallen, M. D'Mello, C. Regan, A. S. Whitehead, and D. J. Fitzgerald Prospective Evaluation of the Risk Conferred by Factor V Leiden and Thermolabile Methylenetetrahydrofolate Reductase Polymorphisms in Pregnancy Arterioscler. Thromb. Vasc. Biol., January 1, 2000; 20(1): 266 - 270. [Abstract] [Full Text] [PDF] I. Mitsiev, S. Reinhold, S. Ziemer, H.-H. Neumayer, and B. Hocher Combination of APC resistance and acquired protein S deficiency in a haemodialysis patient with recurrent A-V shunt thrombosis Nephrol. Dial. Transplant., October 1, 1999; 14(10): 2474 - 2477. [Full Text] [PDF] A. Zivelin, S. Gitel, J. H. Griffin, X. Xu, J. A. Fernandez, U. Martinowitz, Y. Cohen, H. Halkin, U. Seligsohn, and A. Inbal Extensive Venous and Arterial Thrombosis Associated With an Inhibitor to Activated Protein C Blood, August 1, 1999; 94(3): 895 - 901. [Abstract] [Full Text] [PDF] J. Taube, N. McWilliam, R. Luddington, C. D. Byrne, and T. Baglin Activated Protein C Resistance: Effect of Platelet Activation, Platelet-Derived Microparticles, and Atherogenic Lipoproteins Blood, June 1, 1999; 93(11): 3792 - 3797. [Abstract] [Full Text] [PDF] F. Rodeghiero and A. Tosetto Activated Protein C Resistance and Factor V Leiden Mutation Are Independent Risk Factors for Venous Thromboembolism Ann Intern Med, April 20, 1999; 130(8): 643 - 650. [Abstract] [Full Text] [PDF] D. Provan and D. F O'Shaughnessy Recent advances in haematology BMJ, April 10, 1999; 318(7189): 991 - 994. [Full Text] M. C.H. de Visser, F. R. Rosendaal, and R. M. Bertina A Reduced Sensitivity for Activated Protein C in the Absence of Factor V Leiden Increases the Risk of Venous Thrombosis Blood, February 15, 1999; 93(4): 1271 - 1276. [Abstract] [Full Text] [PDF] M A LAFFAN Activated protein C resistance and myocardial infarction Heart, October 1, 1998; 80(4): 319 - 321. [Full Text] R. Liang, C.K. Lee, M.S. Wat, Y.L. Kwong, C.K. Lam, and H.W. Liu Clinical Significance of Arg306 Mutations of Factor V Gene Blood, October 1, 1998; 92(7): 2599 - 2600. [Full Text] [PDF] G. A.F. Nicolaes and B. Dahlback Factor V and Thrombotic Disease: Description of a Janus-Faced Protein Arterioscler. Thromb. Vasc. Biol., April 1, 2002; 22(4): 530 - 538. [Abstract] [Full Text] [PDF]

	Copyright © 1998 by American Society of Hematology         Online ISSN: 1528-0020