Mechanisms of thrombophilia

Pablo García de Frutos

doi:10.1160/TH07-08-0504

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2007; 98(03): 485-487
DOI: 10.1160/TH07-08-0504

Theme Issue Editorial

Schattauer GmbH

Mechanisms of thrombophilia

Authors

Pablo García de Frutos

¹Department of Cell Death and Proliferation, Institute for Biomedical Research of Barcelona, IIBB-CSIC-IDIBAPS, Barcelona, Spain

Abstract

Full Text

References

References
1 Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516-530.
2 Weitz JI. Emerging themes in the treatment of venous thromboembolism. Thromb Haemost 2006; 96: 239-241.
3 Reitsma PH, Rosendaal FR. Past and future of genetic research in thrombosis. J Thromb Haemost 2007; 5 (Suppl. 01) 264-269.
4 Mackie I, Cooper P, Kitchen S. Quality assurance issues and interpretation of assays. Semin Hematol 2007; 44: 114-125.
5 Segers K, Dahlbäck B, Nicolaes GAF. Coagulation factor V and thrombophilia: background and mechanisms. Thromb Haemost 2007; 98: 530-542.
6 García de Frutos P, Fuentes-Prior P, Hurtado B. et al. Molecular basis of protein S deficiency. Thromb Haemost 2007; 98: 543-556.
7 Meijer P, Haverkate F, Kluft C. Performance goals for the laboratory testing of antithrombin, protein C and protein S. Thromb Haemost 2006; 96: 584-589.
8 Giri TK, Linse S, Garcia de Frutos. et al. Structural requirements of anticoagulant protein S for its binding to the complement regulator C4b-binding protein. J Biol Chem 2002; 277: 15099-15106.
9 Dahlback B. The tale of protein S and C4b-binding protein, a story of affection. Thromb Haemost 2007; 98: 90-96.
10 Johansson AM, Hillarp A, Sall T. et al. Large deletions of the PROS1 gene in a large fraction of mutationnegative patients with protein S deficiency. Thromb Haemost 2005; 94: 951-957.
11 Adachi T. Protein S and congenital protein S deficiency: the most frequent congenital thrombophilia in Japanese. Curr Drug Targets 2005; 6: 585-592.
12 Hernádez-Espinosa D, Ordóñez A, Vicente V. et al. Factors with conformational effects on hemostatic serpins: Implications in thrombosis. Thromb Haemost 2007; 98: 557-563.
13 Razzari C, Martinelli I, Bucciarelli P. et al. Polymorphisms of the protein Z-dependent protease inhibitor (ZPI) gene and the risk of venous thromboembolism. Thromb Haemost 2006; 95: 909-910.
14 Folsom AR, Cushman M, Rasmussen-Torvik LJ. et al. Prospective study of polymorphisms of the protein Z-dependent protease inhibitor and risk of venous thromboembolism. Thromb Haemost 2007; 97: 493-494.
15 Corral J, Gonzalez-Conejero R, Soria JM. et al. A nonsense polymorphism in the protein Z-dependent protease inhibitor increases the risk for venous thrombosis. Blood 2006; 108: 177-183.
16 Medina P, Navarro S, Estellés A. et al. Polymorphisms in the endothelial protein C receptor and thrombophilia. Thromb Haemost 2007; 98: 564-569.
17 Fukudome K, Esmon CT. Molecular cloning and expression of murine and bovine endothelial cell protein C/activated protein C receptor (EPCR). The structural and functional conservation in human, bovine, and murine EPCR. J Biol Chem 1995; 270: 5571-5577.
18 Medina P, Navarro S, Estelles A. et al. Influence of the 4600A/G and 4678G/C polymorphisms in the endothelial protein C receptor (EPCR) gene on the risk of venous thromboembolism in carriers of factor V Leiden. Thromb Haemost 2005; 94: 389-394.
19 Saposnik B, Reny JL, Gaussem P. et al. A haplotype of the EPCR gene is associated with increased plasma levels of sEPCR and is a candidate risk factor for thrombosis. Blood 2004; 103: 1311-1318.
20 Qu D, Wang Y, Song Y. et al. The Ser219-->Gly dimorphism of the endothelial protein C receptor contributes to the higher soluble protein levels observed in individuals with the A3 haplotype. J Thromb Haemost 2006; 4: 229-235.
21 García de Frutos P. Genetic variants in the endothelial protein C receptor gene: reaching significance. Thromb Haemost 2005; 94: 233-234.
22 Oldenburg J, Bevans CG, Fregin A. et al. Current Pharmacogenetic Developments in Oral Anticoagulation Therapy: The Influence of Variant VKORC1 and CYP2C9 Alleles. Thromb Haemost 2007; 98: 570-578.
23 Geisen C, Watzka M, Sittinger K. et al. VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation. Thromb Haemost 2005; 94: 773-779.
24 Vecsler M, Loebstein R, Almog S. et al. Combined genetic profiles of components and regulators of the vitamin K-dependent gamma-carboxylation system affect individual sensitivity to warfarin. Thromb Haemost 2006; 95: 205-211.