SEARCH

SEARCH BY CITATION

References

  • 1
    Souto JC, Almasy L, Borrell M, Blanco-Vaca F, Mateo J, Soria JM, Coll I, Felices R, Stone W, Fontcuberta J, Blangero J. Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia. Am J Hum Genet 2000; 67: 14529.
  • 2
    Heit JA, Phelps MA, Ward SA, Slusser J, Petterson TM, De Andrade M. Familial segregation of venous thromboembolism. J Thromb Haemost 2004; 2: 7316.
  • 3
    Souto JC, Almasy L, Borrell M, Garí M, Martínez E, Mateo J, Stone WH, Blangero J, Fontcuberta J. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 2000; 101: 154651.
  • 4
    Rosendaal FR, Bovill EG. Heritability of clotting factors and the revival of the prothrombotic state. Lancet 2002; 359: 6389.
  • 5
    Vossen CY, Hasstedt SJ, Rosendaal FR, Bauer KA, Broze GJ, Long GL, Scott BT, Callas PW, Bovill EG. Heritability of clotting factors and the prothrombotic state. results from a large thrombophilic pedigree of French Canadian descent with Type I protein C deficiency. J Thromb Haemost 2003: abstract P1033.
  • 6
    De Lange M, Snieder H, Ariens RA, Spector TD, Grant PJ. The genetics of haemostasis: a twin study. Lancet 2001; 357: 1015.
  • 7
    Ariëns R, De Lange M, Snieder H, Boothby M, Spector T, Grant P. Activation markers of coagulation and fibrinolysis in twins: heritability of the prethrombotic state. Lancet 2002; 359: 667671.
  • 8
    Esmon CT, Owen WG. Identification of an endothelial cell cofactor for thrombin-catalyzed activation of protein C. Proc Natl Acad Sci 1981; 78: 224952.
  • 9
    Sadler JE. Thrombomodulin structure and function. Thromb Haemost 1997; 78: 3925.
  • 10
    Weiler H, Iserman BH. Thrombomodulin. J Thromb Haemost 2003; 1: 151524.
  • 11
    Sadler JE, Lentz SR, Sheehan JP, Tsiang M, Wu Q. Structure–function relationships of the thrombin–thrombomodulin interaction. Haemostasis 1993; 23: 18393.
  • 12
    Dittman WA, Majerus PW. Structure and function of thrombomodulin: a natural anticoagulant. Blood 1990; 75: 32935.
  • 13
    Weiler-Guettler H, Christie PD, Beeler DL, Healy AM, Hancock WW, Rayburn H, Edelberg JM, Rosenberg RD. A targeted point mutation in thrombomodulin generates viable mice with a prethrombotic state. J Clin Invest 1998; 101: 198391.
  • 14
    Isermann B, Hendrickson SB, Zogg M, Wing M, Cummiskey M, Kisanuki YY, Yanagisawa M, Weiler H. Endothelium-specific loss of murine thrombomodulin disrupts the protein C anticoagulant pathway and causes juvenile-onset thrombosis. J Clin Invest 2001; 108: 53746.
  • 15
    Schaid DJ, Sommer SS. Genotype relative risks: methods for design and analysis of candidate–gene association studies. Am J Hum Genet 1993; 53: 111426.
  • 16
    Silverstein MD, Heit JA, Mohr DN, Petterson TM, O'Fallon WM, Melton LJ. Trends in the incidence of deep vein thrombosis and pulmonary embolism: a 25-year population-based, cohort study. Arch Intern Med 1998; 158: 58593.
  • 17
    Melton LJI. History of the Rochester Epidemiology Project. Mayo Clin Proc 1996; 71: 26674.
  • 18
    Heit JA, Silverstein MD, Mohr DN, Petterson TM, O'Fallon WM, Melton LJIII Risk factors for deep vein thrombosis and pulmonary embolism: a population-based case–control study. Arch Intern Med 2000; 160: 80915.
  • 19
    Hecker KH, Taylor PD, Gjerde DT. Mutation detection by denaturing DNA chromatography using fluorescently labeled polymerase chain reaction products. Anal Biochem 1999; 272: 15664.
  • 20
    Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nature Genet 2003; 33 (Suppl.): 22837.
  • 21
    Grantham R. Amino acid difference formula to help explain protein evolution. Science 1974; 185: 8624.
  • 22
    Krawczak M, Ball EV, Cooper DN. Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. Am J Hum Genet 1998; 63: 47488.
  • 23
    Bottema CD, Ketterling RP, Ii S, Yoon HS, Phillips JA3rd, Sommer SS. Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as ‘spacer’ elements. Am J Hum Genet 1991; 49(4): 82038.
  • 24
    Miller MP, Kumar S. Understanding human disease mutations through the use of interspecific genetic variation. Hum Mol Genet 2001; 10(2319): 28.
  • 25
    Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Dordero SN, Rotimi C, Adyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D. The structure of haplotype blocks in the human genome. Science 2002; 296: 22259.
  • 26
    Ireland H, Kunz G, Kyriakoulis K, Stubbs PJ, Lane DA. Thrombomodulin gene mutations associated with myocardial infarction. Circulation 1997; 96: 1518.
  • 27
    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: 1098104.
  • 28
    Öhlin A-K, Norlund L, Marlar RA. Thrombomodulin gene variations and thromboembolic disease. Thromb Haemost 1997; 78: 396400.
  • 29
    Doggen CJ, Kunz G, Rosendaal FR, Lane DA, Vos HL, Stubbs PJ, Manger Cats V, Ireland H. A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction. Thromb Haemost 1998; 80: 7438.
  • 30
    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. Br J Haematol 2001; 114: 6416.
  • 31
    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: 51113.
  • 32
    Öhlin A-K, Marlar RA. Mutations in the thrombomodulin gene associated with thromboembolic disease. Thromb Haemost 1995; 73: 750a.
  • 33
    Norlund L, Zöller B, Öhlin A-K. A novel thrombomodulin gene mutation in a patient suffering from sagittal sinus thrombosis. Thromb Haemost 1997; 78: 11646.
  • 34
    Öhlin A-K, Marlar RA. The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease. Blood 1995; 85: 3306.
  • 35
    Faioni EM, Merati G, Peyvandi F, Bettini PM, Mannucci PM. The G1456 to T mutation in the thrombomodulin gene is not frequent in patients with venous thrombosis. Blood 1997; 89: 1467.
  • 36
    Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association of traits with haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002; 70: 42534.
  • 37
    Pritchard J, Rosenberg N. Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet 1999; 65: 2208.
  • 38
    Devlin B, Roeder K. Genomic control for association studies. Biometrics 1999; 55: 9971004.
  • 39
    Bacano S-A, Devlin B, Roeder K. The power of genomic control. Am J Hum Genet 2000; 66: 193344.
  • 40
    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 1987; 84: 64259.
  • 41
    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: 56976.
  • 42
    Kunz G, Öhlin A-K, Adami A, Zöller B, Svensson P, Lane DA. Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function. Blood 2002; 90: 364653.
  • 43
    Tazawa R, Yamamoto K, Suzuki K, Hirokawa K, Hirosawa S, Aoki N. Presence of functional cyclic AMP responsive element in the 3′-untranslated region of the thrombomodulin gene. Biochem Biophys Res Com 1994; 200: 13917.
  • 44
    Yu K, Morioka H, Fritze LMS, Beeler DL, Jackman RW, Rosenberg RD. Transcriptional regulation of the thrombomodulin gene. J Biol Chem 1992; 267: 2323747.
  • 45
    Magdelaine A, Verdy E, Coulet F, Berkane N, Girot R, Uzan S, Soubrier F. Deep vein thrombosis during enoxaparin prophylactic treatment in a young pregnanat woman homozygous for factor V Leiden and heterozygous for the G127[RIGHTWARDS ARROW]A mutation in the thrombomodulin gene. Blood Coagul Fibrinol 2000; 11: 7615.
  • 46
    Thude H, Wilkens A, Anders O, Barz D. Analysis of the thrombomodulin gene in patients with venous thrombosis. Thromb Res 2002; 107: 10914.
  • 47
    Aleksic N, Folsom AR, Cushman M, Heckbert SR, Tsai MY, Wu KK. Prospective study of the A455V polymorphism in the thrombomodulin gene, plasma thrombomodulin, and incidence of venous thromboembolism: the LITE Study. J Thromb Haemost 2003; 1: 8894.
  • 48
    Li Y-H, Chen C-H, Yeh P-S, Lin HJ, Chang BI, Lin JC, Guo HR, Wu HL, Shi GY, Lai ML, Chen JH. Functional mutation in the promoter region of the thrombomodulin gene in relation to carotid atherosclerosis. Atherosclerosis 2001; 154: 71319.
  • 49
    Kuklin A, Munson K, Gjerde D, Haefele R, Taylor P. Detection of single-nucleotide polymorphisms with the WaveTM DNA Fragment Analysis System. Genetic Testing 1997; 1: 2016.
  • 50
    Taliani MR, Roberts SC, Dukek BA, Pruthi RK, Nichols WL, Heit JA. Sensitivity and specificity of denaturing high pressure liquid chromatography (DHPLC) for unknown protein C gene mutations. Genetic Testing 2001; 5: 3944.
  • 51
    Le Flem L, Mennen L, Aubry M-L, Aiach M, Scarabin PY, Emmerich J, Alhenc-Gelas M. Thrombomodulin promoter mutations, venous thrombosis, and varicose veins. Arterioscler Thromb Vasc Biol 2001; 2001: 445.
  • 52
    Conway PR, Pollefeyt S, Collen D, Steiner-Mosonyi M. The amino terminal lectin-like domain of thrombomodulin is required for constitutive endocytosis. Blood 1997; 89: 65261.
  • 53
    Wu KK, Aleksic N, Ahn D, Boerwinkle E, Folsom A, Juneja H. Thrombomodulin Ala455Val polymorphism and risk of coronary heart disease. Circulation 2001; 103: 13869.
  • 54
    Faioni EM, Franchi F, Castaman G, Biguzzi E, Rodeghiero F. Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia. Br J Haematol 2002; 118: 5959.
  • 55
    Shirai T, Shoijiri 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 Biol Chem 1988; 103: 2815.