Inherited abnormalities in the protein C activation pathway

Pathophysiology of Haemostasis and Thrombosis

Volumn 32, Issue 5-6, 2002, Pages 241-244

  España, Francisco ^a   Medina, Pilar ^a   Navarro, Silvia ^a   Estellés, Amparo ^a   Aznar, Justo ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

Arterial thrombosis; Endothelial protein C receptor; Mutations; Myocardial infarction; Protein C activation; Thrombomodulin; Venous thrombosis

Indexed keywords

ACTIVATED PROTEIN C; FIBRIN; PROCOAGULANT; THROMBIN; THROMBOMODULIN; PROTEIN C;

CONFERENCE PAPER; ENDOTHELIUM CELL; EVALUATION; GENE MUTATION; GENETIC LINKAGE; HUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION; THROMBOSIS; GENETICS; METABOLISM; MUTATION; REVIEW;

HUMANS; MUTATION; PROTEIN C; THROMBOSIS;

EID: 0142040358     PISSN: 14248832     EISSN: None     Source Type: Journal    
DOI: 10.1159/000073573     Document Type: Conference Paper

References (27)

1. Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C: Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68: 1370-1373.
2. Dahlback B, Carlsson M, Svenson PJ: Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-1008.
3. Bertina R, Koeleman B, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67.
4. Esmon CT: Molecular events that control the protein C anticoagulant pathway. Thromb Haemost 1993; 70: 29-35.
5. Esmon CT: The endothelial cell protein C receptor. Thromb Haemost 2000; 83: 639-643.
6. Van der Velden PA, Krommenhoek-Van Es T, Allaart F, Bertina RM, Reistma PH: A frequent thrombomodulin amino acid dimorphism is not associated with thrombophilia. Thromb Haemost 65: 511-513, 1991.
7. Öhlin AK, Marlar RA: The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease. Blood 85: 330-336, 1995.
8. Norlund L, Zoller B, Öhlin AK: A novel thrombomodulin gene mutation in a patient suffering from sagital sinus thrombosis. Thromb Haemost 1997; 78: 1164-1166.
9. Ohlin AK, Norlund L, Marlar RA: Thrombomodulin gene variations and thromboembolic disease. Thromb Haemost 1997; 78: 396-400.
10. Ireland H, Kunz G, Kyrialkulis K, Stubbs PJ, Lane DA: Thrombomodulin gene mutations associated with myocardial infarction. Circulation 1997; 96: 15-18.
11. Kunz G, Ireland HA, Stubbs PJ, Kahan M, Coulton GC, Lane DA: Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction. Blood 2000; 95: 569-576.
12. Le Flem L, Mennen L, Aubry ML, Aich M, Scarabin PY, Emmerich J, Alhenc-Gelas M: Thrombomodulin promoter mutations, venous thrombosis, and varicose veins. Arterioscler Thromb Vasc Biol 2001; 21: 445-451.
13. Franchi F, Biguzzi E, Cetin I, Facchetti F, Radaelli T, Bozzo M, Pardi G, Faioni EM: Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss. Brit J Haematol 2001; 114: 641-646.
14. Kunz G, Öhlin AK, Adami A, Zöller B, Svensson P, Lane DA: Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function. Blood 2002; 99: 3646-3653.
15. Biguzzi E, Biguzzi E, Merati G, Liaw PCY, Bucciarelli P, Oganesyan N, Qu D, Gu JM, Fetiveau R, Esmon CT, Mannucci PM, Faioni EM: A 23bp insertion in the endothelial protein C receptor (EPCR) gene impairs EPCR function. Thromb Haemost 2001; 86; 945-948.
16. Esmon CT, Owen WG: Identification of an endothelial cell cofactor for thrombin-catalyzed activation of protein C. Proc Natl Acad Sci USA 1981; 78: 2249-2252.
17. Medina P, España F, Villa P, Vayá A, Mira Y, Estellés A, Royo M, Bertina RM, Aznar J: The C1418T polymorphism in the thrombomodulin gene is associated with increased levels of circulating activated protein C. Supplement to the journal Thrombosis and Haemostasis, July 2001 (ISSN 0340-6245).
18. Norlund L, Holm J, Zöller B, Öhlin AK: A common thrombomodulin amino acid dimorphism is associated with myocardial infaction. Thromb Haemost 1997; 77: 248-251.
19. Wu KK, Aleksic N, Ahn C, Boerwinkle E, Folsom AR, Juneja H: Thrombomodulin Ala455Val polymorphism and risk of coronary heart disease. Circulation 2001; 103: 1386-1389.
20. Li YH, Chen JH, Wu HL, Shi GY, Huang HC, Chao TH, Tsai WC, Tsai LM, Guo HR, Wu WS, Chen ZC: G-33A mutation in the promoter region of thrombomodulin gene and its association with coronary artery disease and plasma soluble thrombomodulin levels. Am J Cardiol 2000; 85: 8-12.
21. Le Flem L, Picard V, Emmerich J, Gandrille S, Fiessinger JN, Aiach M, Alhenc-Gelas M: Mutations in promoter region of thrombomodulin and venous thromboembolic disease. Arterioscler Thromb Vasc Biol 1999; 19: 1098-1104.
22. Laszik Z, Mitro A, Taylor FB Jr, Ferrel G, Esmpn CT: Human protein C receptor is present primarily on endothelial of large vessels: implications in the control of the protein C pathway. Circulation 1987; 96: 3633-3640.
23. Stearns-Kurosawa DJ, Kurosawa S, Mollica JS, Ferrell GL, Esmon CT: The endothelial cell proteinC receptor augments protein C activation by the thrombin-thrombomodulin complex. Proc Natl Acad Sci USA 1996; 93: 10212-10216.
24. Simmons RE, Lane DA: Structural and functional implications of the intern/exon organization of the human endothelial cell protein C/activated protein C receptor (EPCR) gene: comparison with the structure of CD1/major histocompatibility complex a1 and a2 domains. Blood 1999; 94: 632-641.
25. España F, Medina P, Mira Y, Estellés A, Vayá A, Villa P, Royo M, Aznar J, Bertina RM: A new polymorphism in the 3'UTR region of the endothelial protein C receptor associated with increased levels of circulating activated protein C and decreased risk of venous thrombosis. Supplement to the journal Thrombosis and Haemostasis, July 2001 (ISSN 0340-6245).
26. España F, Zuazu I, Vicente V, Estellés A, Marco P, Aznar J: Quantification of circulating activated protein C in human plasma by immunoassays. Enzyme levels are proportional to total protein C levels. Thromb Haemost 1996; 75: 56-61.
27. España F, Vayá A, Mira Y, Medina P, Estellés A, Villa P, Falcó C, Aznar J: Low level of circulating activated protein C is a risk factor for venous thrombosis. Thromb Haemost 2001; 86: 1368-1373.