Factor V cambridge: A new mutation (Arg306→Thr) associated with resistance to activated protein C

Blood

Volumn 91, Issue 4, 1998, Pages 1140-1144

  Williamson, David ^a   Brown, Karen ^a   Luddington, Roger ^a   Baglin, Caroline ^a   Baglin, Trevor ^a  

^a CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5;

ARTICLE; BLOOD CLOTTING; BLOOD CLOTTING FACTOR 5 DEFICIENCY; DEEP VEIN THROMBOSIS; GENE MUTATION; HUMAN; LUNG EMBOLISM; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; THROMBOSIS; VEIN THROMBOSIS;

EID: 0032520041     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v91.4.1140     Document Type: Article

References (28)

1. Dahlback B, Carlsson M, Svensson P: Familial thrombophilia due to a previously unrecognised mechanism characterised by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 90:1004, 1993
2. Griffin J, Evatt B, Wideman C, Fernandez J: Anticoagulant protein C pathway is defective in majority of thrombophilic patients. Blood 82:1989, 1993
3. Koster T, Rosendaal F, de Ronde H, Briet E, Vandenbrouke J, Bertina R: Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 342:1503, 1993
4. Svensson P, Dahlback B: Resistance to activated proteion C as a basis for venous thrombosis. N Engl J Med 330:517, 1994
5. Zoller B, Svensson P, He X, Dahiback B: Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest 94:2521, 1994
6. Bertina R, Koeleman B, Koster T, Rosendaal F, Dirven R, de Ronde H, van der Velden P, Reitsma P: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64, 1994
7. Voorberg J, Roelse J, Koopman R, Buller H, Berends F, Ten Cate J, Mertens K, Van-Mourik J: Association of idiopathic venous thrombo-embolism with single point-mutation at Arg506 of factor V. Lancet 343:1535, 1994
8. Greengard J, Sun X, Xu X, Fernandez J, Griffin J, Evatt B: Activated protein C resistance caused by Arg506Gln mutation in factor Va. Lancet 343:1361, 1994
9. Kalafatis M, Rand M, Mann K: The mechanism of inactivation of human factor V and human factor Va by activated protein C. J Biol Chem 269:31869, 1994
10. Kalafatis M, Bertina R, Rand M, Mann K: Characterisation of the molecular defect in factor V R506Q. J Biol Chem 270:4053, 1995
11. Heeb M, Kojima Y, Greengard J, Griffin J: Activated protein C resistance: Molecular mechanisms based on studies using purified Gln506-factor V. Blood 85:3405, 1995
12. Griffin J, Heeb J, Kojima Y, Fernandez J, Kojima K, Hackeng T, Greengard J: Activated protein C resistance: Molecular mechanisms. Thromb Haemost 74:444, 1995
13. Nicolaes G, Thomassen M, Tans G, Rosing J, Hemker H: Effect of activated protein C on thrombin generation and on the thrombin potential in plasma of normal and APC-resistant individuals. Blood Coagul Fibrinol 8:28, 1997
14. Rosendaal F, Koster T, Vandenbrouck J, Reitsma P: High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 85:1504, 1995
15. Gumming A, Tait R, Fildes I, Yoong A, Keeney S, Hay C: Development of resistance to activated protein C during pregnancy. Br J Haematol 90:725, 1995
16. Ehrenforth S, Radtke K, Scharrer I: Acquired activated protein C-resistance in patients with lupus anticoagulant. Thromb Haemost 74:797, 1995
17. Henkens C, Bom V, Van der Meer J: Lowered APC-sensitivity ratio related to increased factor-VIII clotting activity. Thromb Haemost 74:1198, 1995
18. Bernardi F, Faioni E, Castoldi E, Lunghi B, Castaman G, Sacchi E, Mannucci P: A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenorype. Blood 90:1552, 1997
19. Luddington R, Brown K, Baglin T: Effect of platelet phospholipid exposure on activated protein C resistance: Implications for thrombophilia screening. Br J Haematol 92:744, 1996
20. Jorquera J, Montoro J, Fernandez M, Aznar JA, Aznar J: Modified test for activated protein C resistance. Lancet 344:1162, 1994
21. Lee L, Jennings I, Luddington R, Baglin T: Markers of thrombin and plasmin generation in patients with inherited thrombophilia. J Clin Pathol 47:631, 1994
22. Poort S, Rosendaal F, Reitsma P, Bertina R: A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated prothrombin levels and an increase in venous thrombosis. Blood 88:3698, 1996
23. Brown K, Williamson D, Luddington R, Baker P, Baglin T: Risk of venous thromboembolism associated with a G to A transition at position 20210 in the 3′-untranslated region of the prothrombin gene. Br J Haematol 98:907, 1997
24. Beauchamp N, Daly M, Hampton K, Cooper P, Preston F, Peake I: High prevalence of a mutation in the factor V gene within the UK population: Relationship to activated protein C resistance and familial thrombosis. Br J Haematol 88:219, 1994
25. Rosing J, Tans G, Govers Riemslag J, Zwaal R, Hemker H: The role of phospholipids and factor Va in the prothrombinase complex. J Biol Chem 255:274, 1980
26. Aparicio C, Dahlback B: Molecular mechanisms of activated protein C resistance. Biochem J 313:467, 1996
27. Nicolaes G, Tans G, Thomassen C, Hemker H, Pabinger I, Varadi K, Schwarz H, Rosing J: Peptide bond cleavages and loss of functional activity during inactivation of factor Va and factor VaR506Q by activated protein C. J Biol Chem 270:21158, 1995
28. Egan J, Kalafatis M, Mann K: The effect of Arg306→Ala and ARg506→Gln substitutions in the inactivation of recombinant human factor Va by activated protein C and protein S. Prot Sci 6:2016, 1997