Prevalence of the 23bp Endothelial Protein C Receptor (EPCR) Gene Insertion in the Irish Population

Leeona Galligan; Wendy Livingstone; Lesley Mynett-Johnston; Owen P. Smith

doi:10.1055/s-0037-1613080

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2002; 87(04): 773-774
DOI: 10.1055/s-0037-1613080

Letters to the Editor

Schattauer GmbH

Prevalence of the 23bp Endothelial Protein C Receptor (EPCR) Gene Insertion in the Irish Population

Leeona Galligan

¹National Centre for Hereditary Coagulation Disorders, St. James’s Hospital, Dublin, Ireland

²Smurfit Institute of Genetics, Trinity College Dublin, Ireland

,

Wendy Livingstone

¹National Centre for Hereditary Coagulation Disorders, St. James’s Hospital, Dublin, Ireland

²Smurfit Institute of Genetics, Trinity College Dublin, Ireland

,

Lesley Mynett-Johnston

²Smurfit Institute of Genetics, Trinity College Dublin, Ireland

,

Owen P. Smith

¹National Centre for Hereditary Coagulation Disorders, St. James’s Hospital, Dublin, Ireland

²Smurfit Institute of Genetics, Trinity College Dublin, Ireland

› Author Affiliations

Abstract

Full Text

References

References
1 Esmon CT, Ding W, Yasuhiro K, Gu JM, Ferrell G, Regan LM, Steams-Kurosawa DJ, Kurosawa S, Mather T, Laszik Z, Esmon NL. The protein C pathway: new insights. Thromb Haemost 1997; 78: 70-4.
2 Esmon CT. The protein C anticoagulant pathway. Arterioscler Thromb 1992; 12: 135-45.
3 Steams-Kurosawa DJ, Kurosawa S, Mollica JS, Ferrell GL, Esmon CT. The endothelial cell protein C receptor augments protein C activation by the thrombin-thrombomodulin complex. PNAS 1996; 93: 10212-6.
4 Fukudome K, Ye X, Tsuneyoshi N, Tokunaga O, Sugawara K, Mizokami H, Kimoto M. Activation mechanism of anticoagulant protein C in large blood vessels involving the endothelial cell protein C receptor. J Exp Med 1998; 187: 1029-35.
5 Taylor Jr FB, Peer GT, Lockhart MS, Ferrell G, Esmon CT. Endothelial cell protein C receptor plays an important role in protein C activation in vivo. Blood 2001; 97: 1685-8.
6 Simmonds RE, Lane DA. 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 CDl/major histocompatibility complex alphal and alpha2 domains. Blood 1999; 94: 632-41.
7 Hayashi T, Nakamura Ft, Okada A, Takebayashi S, Wakita T, Yuasa Ft, Okumura K, Suzuki K. Organization and chromosomal localization of the human endothelial protein C receptor gene. Gene 1999; 238: 367-73.
8 Merati G, Biguzzi E, Oganesyan N, Fetiveau R, Qu D, Bucciarelli P, Steams-Kurosawa DJ, Manucci PM, Esmon CT, Faioni EM. A 23bp insertion in the endothelial protein C receptor (EPCR) gene in patients with myocardial infarction and deep vein thrombosis. XVIIth Congress of the International Society of Thrombosis and Haemostasis. Washington DC, USA: Thromb Haemost. 1999. Abstracts (Suppl): 507 (Abstr no 1596).
9 Biguzzi E, Merati G, Liaw PC, 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: 945-8.
10 Akar N, Gökdemir R, Akar E, Ökar D. Endothelial cell protein C/Activated protein C receptor gene exon III, 23bp insertion mutation in Turkish pediatric thrombotic patients. XVIIIth Congress of the International Society of Thrombosis and Haemostasis. Paris, France: Tiromb Haemost. 2001. Abstracts (Suppl): (Abstr no 1474).
11 Franchi F, Biguzzi E, Facchetti F, Merati G, Cetin I, Redaelli T, Bozzo M, Bucciarelli P, Mannucci PM, Faioni EM. Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss. XVIIIth Congress of the International Society of Thrombosis and Haemostasis. Paris, France: Thromb Haemost. 2001. Abstracts (Suppl): (Abstr no 516).
12 Grossmann R, Geisen U, Schambeck C, Merati G, Walter U, Schwender S. Genetic risk factors for cerebrovascular ischaemic disease in young patients. XVIIIth Congress of the International Society of Thrombosis and Haemostasis, Paris, France. Thromb Haemost. 2001. Abstracts (Suppl): (Abstr no 1691).
13 Van der Water NS, French JK, McDowell J, Browett PJ. The endothelial protein C receptor (EPCR) 23bp insert in patients with myocardial infarction. Thromb Haemost 2001; 85: 749-51.
14 von Depka M, Czwalinna A, Eisert R, Wermes C, Scharrer I, Ganser A, Ehrenforth S. Prevalence of a 23bp insertion in exon 3 of the endothelial cell protein C receptor gene in venous thrombophilia. Thromb Haemost 2001; 86: 1360-2.