Endothelial protein C receptor gene expression in a female with homozygous EPCR gene 23-bp insertion

References (1)

1. Esmon CT: The protein C pathway. Chest 2003; 124 (3 Suppl): 26-32 2. Nagai M, Terao S, Yilmaz G, Yilmaz CE, Esmon CT, Watanabe E, Granger DN: Roles of inflammation and the activated protein C pathway in the brain edema associated with cerebral venous sinus thrombosis. Stroke 2010; 41 (1): 147-152 3. Taylor FB Jr, 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; 1685-1688 4. Nayak RC, Sen P, Ghosh S, Gopalakrishnan R, Esmon CT, Pendurthi UR, Rao LV: Endothelial cell protein C receptor cellular localization and trafficking: Potential functional implications. Blood 2009; 114 (9): 1974-1986 5. 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: Comparisons with the structure of CD1 / major histocompatibility complex alpha1 and alpha2 domains. Blood 1999; 94: 632-641 6. Kurosawa S, Stearns-Kurosawa DJ, Hidari N, Esmon CT: Identification of functional endothelial protein C receptor in human plasma. J Clin Invest 1997; 100: 411-418 7. Akar N, Gökdemir R, Ozel D, Akar E: Endothelial cell protein C receptor (EPCR) gene exon III, 23 bp insertion mutation in the Turkish pediatric thrombotic patients. Thromb Haemost 2002; 88 (6): 1068-1069 8. Karabıyık A, Yılmaz E, Egin Y, Akar N: The effects of Endothelial Protein C Receptor Gene Polymorphisms on sEPCR levels in Venous Thrombotic Patients. Turk J Hematol 2010 (in press) 9. Zecchina G, Bosio S, Brusa E, Rege-Cambrin G, Camaschella C: EPCR 23 bp insertion in a patient with severe progressive arterial disease: A dominant loss of function mutant in conditions of increased APC request? Br J Haematol 2002; 119 (3): 881-882 10. Biguzzi E, Merati G, Liaw PC, Bucciarelli P, Oganesyan N, Qu D, Gu JM, Fetiveau R, Esmon CT, Manucci PM, Faioni EM: A 23 bp insertion in the endothelial protein C receptor (EPCR) gene impairs EPCR function. Thromb Haemost 2001; 86: 945-948 11. 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. Brit J Haemat 2001; 114: 641-646 12. Gu JM, Crawley JT, Ferrell G, Zhang F, Li W, Esmon NL, Esmon CT: Disruption of the endothelial cell protein C receptor gene in mice causes placental thrombosis and early embryonic lethality. J Biol Chem 2002; 2