Role of a 23 bp Insertion in Exon 3 of the Endothelial Cell Protein C Receptor Gene in Venous Thrombophilia

2002 ◽  
pp. 278-282
Author(s):  
M. Von Depka Prondzinski ◽  
A. Czwalinna ◽  
R. Eisert ◽  
C. Wermes ◽  
B. Canepa ◽  
...  
Keyword(s):  
Endothelial Cell ◽  
Protein C ◽  
Receptor Gene ◽  
Cell Protein

Endothelial cell protein C receptor gene 6936A/G and 4678G/C polymorphisms as risk factors for deep venous thrombosis

2016 ◽  
Vol 27 (3) ◽  
pp. 259-265 ◽  
Author(s):  
Naguib Zoheir ◽  
Nabiel Eldanasouri ◽  
Asmaa A. Abdel-Aal ◽  
Karim Adel Hosny ◽  
Wafaa M. Abdel-Ghany
Keyword(s):  
Risk Factors ◽  
Endothelial Cell ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Protein C ◽  
Receptor Gene ◽  
Cell Protein

Laboratory Issues in Diagnosing Abnormalities of Protein C, Thrombomodulin, and Endothelial Cell Protein C Receptor

2002 ◽  
Vol 126 (11) ◽  
pp. 1337-1348 ◽  
Author(s):  
Kandice Kottke-Marchant ◽  
Philip Comp
Keyword(s):  
Endothelial Cell ◽  
Protein C ◽  
Medical Literature ◽  
Majority Vote ◽  
Diagnostic Testing ◽  
Laboratory Evaluation ◽  
Cell Protein ◽  
Endothelial Protein C Receptor ◽  
Protein C Deficiency

Abstract Objective.—To review the current understanding of the pathophysiology of protein C deficiency and its role in congenital thrombophilia. Recommendations for diagnostic testing for protein C function and concentration, derived from the medical literature and consensus opinions of recognized experts in the field, are included, specifying whom, how, and when to test. The role of related proteins, such as thrombomodulin and endothelial protein C receptor, is also reviewed. Data Sources.—Review of the published medical literature. Data Extraction and Synthesis.—A summary of the medical literature and proposed testing recommendations were prepared and presented at the College of American Pathologists Conference XXXVI: Diagnostic Issues in Thrombophilia. After discussion at the conference, consensus recommendations presented in this manuscript were accepted after a two-thirds majority vote by the participants. Conclusions.—Protein C deficiency is an uncommon genetic abnormality that may be a contributing cause of thrombophilia, often in conjunction with other genetic or acquired risk factors. When assay of protein C plasma levels is included in the laboratory evaluation of thrombophilia, a functional amidolytic protein C assay should be used for initial testing. The diagnosis of protein C deficiency should be established only after other acquired causes of protein C deficiency are excluded. A low protein C level should be confirmed with a subsequent assay on a new specimen. Antigenic protein C assays may be of benefit in subclassification of the type of protein C deficiency. The role of thrombomodulin and endothelial cell protein C receptor in thrombosis has yet to be clearly established, and diagnostic testing is not recommended at this time.

Role of a 5′-enhancer in the transcriptional regulation of the human endothelial cell protein C receptor gene

Blood ◽  
2006 ◽  
Vol 108 (4) ◽  
pp. 1251-1259 ◽  
Author(s):  
Luigina R. Mollica ◽  
James T. B. Crawley ◽  
Ke Liu ◽  
James B. Rance ◽  
Peter N. Cockerill ◽  
...  
Keyword(s):  
Endothelial Cells ◽  
Transcriptional Regulation ◽  
Endothelial Cell ◽  
Protein C ◽  
Receptor Gene ◽  
Regulatory Elements ◽  
Proximal Promoter ◽  
Cell Protein ◽  
Enhancer Activity ◽  
Hematopoietic Stem

Abstract The endothelial cell protein C receptor (EPCR) is expressed by endothelial cells of large blood vessels and by hematopoietic stem cells. DNaseI hypersensitive (DH) site mapping across 38 kb of the human EPCR gene (hEPCR) locus identified 3 potential regulatory elements. By itself, the DH region spanning the proximal promoter (PP) was unable to direct cell-specific transcription in transgenic mice. A second DH element, located upstream of PP and termed –5.5HS was hypersensitive only in endothelial cells (ECs) and immature hematopoietic cell lines. Transgenes expressing LacZ under the control of –5.5HS coupled to either PP or the SV40 promoter were able to direct β-galactosidase activity to the endothelium of large vessels during embryogenesis and adulthood. The –5.5HS exhibited enhancer activity that was conferred by the interplay of transcription factors interacting with conserved Ets and composite GATA/Tal1 motifs. The third DH element, located in intron 2, was primarily hypersensitive in EPCR-negative cells, and capable of initiating antisense transcription, suggesting a role in hEPCR silencing. This study identifies critical elements required for the tissue specificity of hEPCR and suggests a mechanism for endothelial and hematopoietic stem cell–specific transcriptional regulation that reflects the common origin of these cell types.

scholarly journals Inactivation of Factor VIIa by Antithrombin In Vitro, Ex Vivo and In Vivo: Role of Tissue Factor and Endothelial Cell Protein C Receptor

PLoS ONE ◽  
2014 ◽  
Vol 9 (8) ◽  
pp. e103505 ◽  
Author(s):  
Rit Vatsyayan ◽  
Hema Kothari ◽  
Nigel Mackman ◽  
Usha R. Pendurthi ◽  
L. Vijaya Mohan Rao
Keyword(s):  
Endothelial Cell ◽  
Tissue Factor ◽  
Protein C ◽  
Factor Viia ◽  
Ex Vivo ◽  
Cell Protein

scholarly journals Endothelial cell protein C receptor gene 6936A/G polymorphism is associated with venous thromboembolism

2012 ◽  
Vol 3 (6) ◽  
pp. 989-992 ◽  
Author(s):  
GUANCHENG YIN ◽  
XING JIN ◽  
HANXIN MING ◽  
XIAO ZHENG ◽  
DEQING ZHANG
Keyword(s):  
Venous Thromboembolism ◽  
Endothelial Cell ◽  
Protein C ◽  
Receptor Gene ◽  
Cell Protein

Phosphatidylcholine in the groove of endothelial cell protein C receptor (EPCR) regulates EPCR conformation and protein C recognition

2018 ◽  
Vol 10 (11) ◽  
pp. 696-704 ◽  
Author(s):  
Ramesh Prasad ◽  
Prosenjit Sen
Keyword(s):  
Endothelial Cell ◽  
Complex Formation ◽  
Protein C ◽  
Regulatory Role ◽  
Cell Protein ◽  
Dependent Protein

Lipid-dependent protein C–EPCR complex formation explains the regulatory role of antigenic lipid within the EPCR groove.

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