Analysis of PROC and PROS1 single nucleotide polymorphisms in a thrombophilia family

The aim of this study was to assess the association of single nucleotide polymorphisms (SNPs) in protein C (PROC) and protein S (PROS1) genes with deep venous thrombosis (DVT) in a thrombophilia family.

[1]  M. Paidas,et al.  Hereditary Thrombophilia and Recurrent Pregnancy Loss. , 2016, Clinical obstetrics and gynecology.

[2]  S. Huh,et al.  Thrombophilia in Korean patients with arterial or venous thromboembolisms , 2016, Annals of surgical treatment and research.

[3]  J. Soria,et al.  Endothelial protein C receptor gene 6936A/G single-nucleotide polymorphism as a possible biomarker of thrombotic risk in acute myeloid leukemia. , 2015, Molecular and clinical oncology.

[4]  M. Ayyub,et al.  High prevalence of protein C, protein S, antithrombin deficiency, and Factor V Leiden mutation as a cause of hereditary thrombophilia in patients of venous thromboembolism and cerebrovascular accident , 2014, Pakistan journal of medical sciences.

[5]  Hee-Jin Kim,et al.  The genomic architecture of the PROS1 gene underlying large tandem duplication mutation that causes thrombophilia from hereditary protein S deficiency. , 2014, Gene.

[6]  J. Lee,et al.  [Portal-splenic-mesenteric venous thrombosis in a patients with protein S deficiency due to novel PROS1 gene mutation]. , 2014, The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi.

[7]  D. Dwivedi,et al.  Targeted Gene Sequencing Identifies Variants in the Protein C and Endothelial Protein C Receptor Genes in Patients With Unprovoked Venous Thromboembolism , 2013, Arteriosclerosis, thrombosis, and vascular biology.

[8]  F. Rosendaal,et al.  Genetic variants associated with protein C levels , 2013, Journal of thrombosis and haemostasis : JTH.

[9]  R. Schnabel,et al.  Association of soluble endothelial protein C receptor plasma levels and PROCR rs867186 with cardiovascular risk factors and cardiovascular events in coronary artery disease patients: The Athero Gene Study , 2012, BMC Medical Genetics.

[10]  S. Park,et al.  Protein S deficiency with a PROS1 gene mutation in a patient presenting with mesenteric venous thrombosis following total colectomy. , 2011, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

[11]  D. Dwivedi,et al.  Targeted Gene Sequencing to Identify Polymorphisms in the Protein C and EPCR Genes in Patients with Unprovoked Venous Thromboembolism. , 2009 .

[12]  C. Carty,et al.  PROC, PROCR and PROS1 polymorphisms, plasma anticoagulant phenotypes, and risk of cardiovascular disease and mortality in older adults: the Cardiovascular Health Study , 2008, Journal of thrombosis and haemostasis : JTH.

[13]  P. Winship,et al.  Regulation of the human protein S gene promoter by liver enriched transcription factors , 2006, British journal of haematology.

[14]  R. Bertina,et al.  The Constitutive Expression of Anticoagulant Protein S Is Regulated through Multiple Binding Sites for Sp1 and Sp3 Transcription Factors in the Protein S Gene Promoter* , 2006, Journal of Biological Chemistry.

[15]  A. Nicolaides,et al.  Prevention and treatment of venous thromboembolism - International Consensus Statement (Guidelines according to scientific evidence) , 2006 .

[16]  Nicolaides An.  Chronic venous disease, inflammation, and Daflon 500 mg. , 2005 .

[17]  R. Schild,et al.  Hereditary thrombophilia in a family with three independent protein S and C mutations. A cause of adverse perinatal outcome. , 1998, European Journal of Obstetrics, Gynecology, and Reproductive Biology.

[18]  W. Tsay,et al.  High prevalence of antithrombin III, protein C and protein S deficiency, but no factor V Leiden mutation in venous thrombophilic Chinese patients in Taiwan. , 1997, Thrombosis research.

[19]  P. Mannucci,et al.  Inherited Thrombophilia: Part 1 , 1996, Thrombosis and Haemostasis.

[20]  M. Aiach,et al.  The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency. , 1995, Blood.

[21]  C. Esmon,et al.  Familial protein S deficiency is associated with recurrent thrombosis. , 1984, The Journal of clinical investigation.