Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function

Blood

Volumn 99, Issue 10, 2002, Pages 3646-3653

  Kunz, Gabriella ^a,b   Öhlin, Ann Kristin ^a,b   Adami, Antonella ^a,b   Zöller, Bengt ^a,b   Svensson, Peter ^a,b   Lane, David A ^a,b  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b LUND UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PROTEIN C; THROMBIN; THROMBOMODULIN;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; BLOOD CLOTTING; CASE REPORT; DEEP VEIN THROMBOSIS; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; IMMUNOCYTOCHEMISTRY; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; PLASMID; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THROMBOEMBOLISM;

EID: 0037093228     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V99.10.3646     Document Type: Article

References (58)

1. The protein C anticogulant system
2. Inherited thrombophilia, part 1
3. Inherited thrombophilia, part 2
4. Vascular-bedspecific hemostasis and hypercoagulable states
5. Identification of an endothelial cell cofactor for thrombin-catalyzed activation of protein C
6. Complex formation between thrombin and thrombomodulin inhibits both thrombin-catalyzed fibrin formation and factor V activation
7. Thrombo-modulin blocks the ability of thrombin to activate platelets
8. Thrombomodulin modulates the mitogenic response to thrombin of human umbilical vein endothelial cells
9. Purification and characterization of TAFI, a thrombin-activable fibrinolysis inhibitor
10. TAFI or plasma carboxypeptidase B, couples the coagulation and fibrinolytic cascades through the thrombin-thrombomodulin complex
11. Both cellular and soluble forms of thrombomodulin inhibit fibrinolysis by potentiating the activation of thrombin-activatable fibrinolysis inhibitor
12. Intravascular coagulation activation in a murine model of thrombomodulin deficiency: Effects of lesion size, age, and hypoxia on fibrin deposition
13. A targeted point mutation in thrombomodulin generates viable mice with a prethrombotic state
14. Soluble thrombomodulin as a predictor of incident coronary heart disease and symptomless carotid artery atherosclerosis in the Atherosclerosis Risk in Communities (ARIC) Study: A case-cohort study
15. The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease
16. Thrombomodulin gene defects in families with thromboembolic disease - A report on four families
17. Thrombomodulin gene variations and thromboembolic disease
18. Mutations in the thrombomodulin gene associated with thromboembolic disease
19. A novel thrombomodulin gene mutation in a patient suffering from sagittal sinus thrombosis
20. Thrombomodulin gene mutations associated with myocardial infarction
21. Functional characterization of the 5′-regulatory region of the human thrombomodulin gene
22. Mutations in promoter region of thrombomodulin and venous thromboembolic disease
23. G-33A mutation in the promoter region of thrombomodulin gene and its association with coronary artery disease and plasma soluble thrombomodulin levels
24. A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction
25. Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction
26. Thrombomodulin Ala455Val polymorphism and risk of coronary heart disease
27. A frequent thrombomodulin amino acid dimorphism is not associated with thrombophilia
28. Thrombomodulin promoter mutations, venous thrombosis, and varicose veins
29. Thrombomodulin gene mutations in patients with protein S deficiency
30. Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C
31. Functional domains of membrane-bound human thrombo-modulin. EGF-like domains four to six and the serine/threonine-rich domain are required for cofactor activity
32. The "megaprimer" method of site-directed mutagenesis
33. A new technique for the assay of infectivity of human adenovirus 5 DNA
34. Structure and expression of human thrombomodulin, a thrombin receptor on endothelium acting as a cofactor for protein C activation
35. Nonsense mutations and diminished mRNA levels
36. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA
37. Alanine-scanning mutagenesis in the epidermal growth factor-like domains of human thrombomodulin identifies critical residues for its cofactor activity
38. Structure-function relationships of the thrombin-thrombomodulin interaction
39. Thrombomodulin structure and function
40. Oxidation of a specific methionine in thrombomodulin by activated neutrophil products blocks cofactor activity. A potential rapid mechanism for modulation of coagulation
41. The short loop between epidermal growth factor-like domains 4 and 5 is critical for human thrombomodulin function
42. Structural basis for the anticoagulant activity of the thrombin-thrombomodulin complex
43. Mutation of Glu-80 to Lys results in a protein C mutant that no longer requires Ca2+ for rapid activation by the thrombin-thrombomodulin complex
44. Thrombomodulin as a model of molecular mechanisms that modulate protease specificity and function at the vessel surface
45. Aspartic acid 349 in the fourth epidermal growth factor-like structure of thrombomodulin plays a role in its Ca(2+)-mediated binding of protein C
46. Identification of the predominant glycosaminoglycan-attachment site in soluble recombinant human thrombomodulin: Potential regulation of functionality by glycosyltransferase competition for serine474
47. The chondroitin sulfate moiety of thrombomodulin binds a second molecule of thrombin
48. Glycosaminoglycan contributions to both protein C activation and thrombin inhibition involve a common arginine-rich site in thrombin that includes residues arginine 93, 97, and 101
49. Multiple domains of the large fibroblast proteoglycan, versican
50. Initiation of chondroitin sulfate biosynthesis: A kinetic analysis of UDP-D-xylose: Core protein beta-D-xylosyltransferase
51. Modulation of glycosaminoglycan addition in naturally expressed and recombinant human thrombomodulin
52. An ultrastructural study of thrombomodulin endocytosis: Internalization occurs via clathrin-coated and non-coated pits
53. The amino terminal lektin-like domain of thrombomodulin is required for constitutive endocytosis
54. The turnover of thrombin-thrombomodulin complex in cultured human umbilical vein endothelial cells and A549 lung cancer cells. Endocytosis and degradation of thrombin
55. Turnover of thrombomodulin at the cell surface occurs at a similar rate to receptors that are not actively internalized
56. Thrombin, thrombomodulin and TAFI in the molecular link between coagulation and fibrinolysis
57. Activation of thrombin-activable fibrinolysis inhibitor requires epidermal growth factor-like domain 3 of thrombomodulin and is inhibited competitively by protein C
58. Elements of the primary structure of thrombomodulin required for efficient thrombin-activable fibrinolysis inhibitor activation