Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss

British Journal of Haematology

Volumn 114, Issue 3, 2001, Pages 641-646

  Franchi, Franca ^a   Biguzzi, Eugenia ^a   Cetin, Irene ^a   Facchetti, Floriana ^a   Radaelli, Tatjana ^a   Bozzo, Maddalena ^a   Pardi, Giorgio ^a   Faioni, Elena M ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b Haemophilia and Thrombosis Centre   (Italy)

Author keywords

Endothelial protein C receptor; Gene mutations; Late fetal loss; Thrombomodulin; Thrombosis

Indexed keywords

PROTEIN C; RECEPTOR PROTEIN; THROMBOMODULIN;

ADULT; ARTICLE; BIRTH; CASE CONTROL STUDY; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; FETUS WASTAGE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; PREGNANCY COMPLICATION; PREVALENCE; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR GENE; RISK;

ABORTION, HABITUAL; ADOLESCENT; ADULT; BLOOD COAGULATION FACTORS; CASE-CONTROL STUDIES; FEMALE; FETAL DEATH; HUMANS; MUTATION; ODDS RATIO; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PREGNANCY TRIMESTER, THIRD; RECEPTORS, CELL SURFACE; REGRESSION ANALYSIS; RETROSPECTIVE STUDIES; RISK; THROMBOMODULIN;

EID: 0034786207     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02964.x     Document Type: Article

References (35)

1. Thrombophilic polymorphisms are common in women with fetal loss without apparent cause
2. The short loop between epidermal growth factor-like domains 4 and 5 is critical for human thrombomodulin function
3. The importance of primary diagnosis in perinatal death
4. Structure and function of thrombomodulin: A natural anticoagulant
5. 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men
6. Thrombomodulin as a model of molecular mechanisms that modulate protease specificity and function at the vessel surface
7. The endothelial cell protein C receptor
8. Complex formation between thrombin and thrombomodulin inhibits both thrombin-catalysed fibrin formation and factor V activation
9. Structural basis for the anticoagulant activity of the thrombin-thrombomodulin complex
10. Optimization of the single-strand conformation polymorphism (SSCP) tecnique for detection of point mutations
11. Factor V Leiden is associated with repeated and recurrent unexplained fetal losses
12. Case-control study of the frequency of thrombophilic disorders in couples with late foetal loss and no thrombotic antecedent - The Nimes Obstetricians and Haematologists Study5 (NOHA5)
13. Targeted disruption of the endothelial protein C receptor (EPCR) causes early embryonic lethality in mice
14. Thrombomodulin gene mutations associated with myocardial infarction
15. Human thrombomodulin gene is intron depleted: Nucleic acid sequences of the cDNA and gene predict protein structure and suggest sites of regulatory control
16. Increased frequency of genetic thrombophilia in women with complications of pregnancy
17. Mutations in the promoter region of thrombomodulin and venous thromboembolic disease
18. Mutations in coagulation factors in women with unexplained late fetal death
19. Thrombomodulin is found on endothelium of arteries, veins, capillaries, and lymphatics, and on syncytiotrophoblast of human placenta
20. A 23bp insertion in the endothelial protein C receptor (EPCR) gene in patients with myocardial infarction and deep vein thrombosis
21. A novel thrombomodulin gene mutation in a patient suffering from sagittal sinus thrombosis
22. The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease
23. Thrombomodulin gene defects in families with thromboembolic disease: A report on four families
24. Thrombomodulin gene variations and thromboembolic disease
25. Fetal death: Diagnosis and management
26. Thrombomodulin structure and function
27. Recurrent stillbirth: Significanceand characteristics
28. The risk of abortion and stillbirth in antithrombin-, protein C-, and protein S-deficient women
29. Structural and functional implications of the intron/exon organization of the human endothelial cell protein C/activated protein C receptor (EPCR) gene: Comparison with the structure of CD1/major histo-compatibility complex alpha1 and alpha2 domains
30. Recurrent miscarriage. I. Definition and epidemiology
31. Functional characterization of the 5′- regulatory region of the human thrombomodulin gene
32. Functional domains of membrane-bound human thrombomodulin
33. A frequent thrombomodulin amino acid dimorphisms is not associated with thrombophilia
34. A targeted point mutation in thrombomodulin generates viable mice with a prethrombotic state
35. Transcriptional regulation of the thrombomodulin gene