Thrombomodulin Gene Variations and Thromboembolic Disease

• References

• 1 Lane DA, Mannucci PM, Bauer KA, Bertina RM, Bochkov NP, Boulyjenkov V, Chandy M, Dahlbäck B, Ginter EK, Miletich JP, Rosendaal FR, Seligsohn U. Inherited thrombophilia: Part 1. Thromb Haemost 1996; 76: 651-662
• 2 Lane DA, Mannuci PM, Bauer KA, Bertina RM, Bochkov NP, Boulyjenkov V, Chandy M, Dahlbäck B, Ginter EK, Miletich JP, Rosendaal FR, Seligsohn U. Inherited thrombophilia: Part 2. Thromb Haemost 1996; 76: 824-834
• 3 Esmon CT. Molecular events that control the protein C anticoagulant pathway. Thromb Haemost 1993; 70: 29-35
• 4 Esmon CT, Owen WG. Identification of an endothelial cell cofactor for the thrombin-catalyzed activation of protein C. Proc Natl Acad Sci U.S.A 1981; 78: 2249-2252
• 5 Esmon CT. The roles of protein C and thrombomodulin in the regulation of blood coagulation. J Biol Chem 1989; 264: 4743-4746
• 6 Jackman RW, Beeler DL, Fritze L, Soff G, Rosenberg RD. Human thrombomodulin gene is intron depleted: Nucleic acid sequences of the cDNA and gene predict protein structure and suggest sites of regulatory control. Proc Natl Acad Sci U.S.A 1987; 84: 6425-6429
• 7 Shirai T, Shiojiri S, Ito H, Yamamoto S, Kusumoto H, Deyashiki Y, Maruyama I, Suzuki K. Gene structure of human thrombomodulin, a cofactor for thrombin-catalyzed activation of protein C. J Biochem 1988; 103: 281-285
• 8 Espinosa R, Sadler JE, Le BeauMM. Regional localization of the human thrombomodulin gene to 20p 12-cen. Genomics 1989; 05: 649-650
• 9 Niforas P, Sanderson GM, Bird CH, Bird P. Characterization of the mouse thrombomodulin gene and functional analysis of the 5’ flanking region in F9 teratocarcinoma cells. Biochim Biophys Acta 1993; 1173: 179-188
• 10 Esmon NL, Esmon CT, Moore KL. Tumor necrosis factor leads to the internalization and degradation of thrombomodulin from the surface of bovine aortic endothelial cells in culture. Blood 1989; 73: 159-165
• 11 Nawroth PP, Handley DA, Esmon CT, Stem DM. Interleukin 1 induces endothelial cell procoagulant while suppressing cell-surface anticoagulant activity. Proc Natl Acad Sci U.S.A 1986; 83: 3460-3464
• 12 Moore KL, Andreoli SP, Esmon NL, Esmon CT, Bang NU. Endotoxin enhances tissue factor and suppresses thrombomodulin expression of human vascular endothelium in vitro. J Clin Invest 1987; 79: 124-130
• 13 Ohji T, Urano H, Shirahata A, Yamagishi M, Higashi K, Gotoh S, Karasaki Y. Transforming growth factor beta 1 and beta 2 induce down modulation of thrombomodulin in human umbilical vein endothelial cells. Thromb Haemost 1995; 73: 812-818
• 14 Ito T, Ogura M, Moroshita Y, Takamatsu J, Maruyama I, Yamamoto S, Ogawa K, Saito H. Enhanced expression of thrombomodulin by intracellular cyclic AMP-increasing agents in two human megakaryoblastic leukemia cell lines. Thromb Res 1990; 58: 615-624
• 15 Horie S, Kizaki K, Ishii H, Kazama M. Retinoic acid stimulates expression of thrombomodulin, a cell surface anticoagulant glycoprotein, on human endothelial cells. Biochem J 1992; 281: 149-154
• 16 Conway EM, Liu L, Nowakowski B, Steiner-Mosonyi M, Jackman RW. Heat shock of vascular endothelial cells induces an up-regulatory transcriptional response of the thrombomodulin gene that is delayed in onset and does not attenuate. J Biol Chem 1994; 269: 22804-22810
• 17 Takada Y, Shinkai F, Kondo S, Yamamoto S, Tsuboi H, Korenaga R, Ando J. Fluid shear stress increases the expression of thrombomodulin by cultured human endothelial cells. Biochim Biophys Res Comm 1994; 205: 1345-1352
• 18 van der Velden PA, Krommenhoek-Van Es T, Allaart CF, Bertina RM, Reitsma PH. A frequent thrombomodulin amino acid dimorphism is not associated with thrombophilia. Thromb Haemost 1991; 65: 511-513
• 19 Norlund L, Holm J, Zöller B, Öhlin A-K. A common thrombomodulin amino acid dimorphism is associated with myocardial infarction. Thromb Haemost. in press
• 20 Öhlin A-K, Marlar RA. The First Mutation Identified in the Thrombomodulin Gene in a 45-Year-Old Male Presenting with Thromboembolic Disease. Blood 1995; 85: 330-336
• 21 Öhlin A-K, Marlar RA. A New Thrombophilia: Thrombomodulin Gene Defects are Inherited in Families with Thromboembolic Disease. Submitted.
• 22 Norlund L, Zöller B, Öhlin A-K. A novel thrombomodulin gene mutation in a patient suffering from sagittal sinus thrombosis. Submitted.
• 23 Öhlin A-K, Norlund L, Marlar RA. Mutations in the thrombomodulin gene. Manuscript.
• 24 Takano S, Kimura S, Ohdama S, Aoki N. Plasma thrombomodulin in health and diseases. Blood 1990; 76: 2024-2029
• 25 Boehme MWJ, Deng U, Raeth U, Bierhaus A, Ziegler R, Stremmel W, Nawroth PP. Release of thrombomodulin from endothelial cells by concerted action of TNF-a and neutrophils: in vivo and in vitro studies. Immunology 1996; 87: 134-140
• 26 Öhlin A-K, Morser J, Öhlin H. Soluble thrombomodulin antigen in plasma is increased in patients with acute myocardial infarction treated with thrombolytic therapy. Thromb Res 1995; 82: 313-322