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Endothelium Modulates the Prothrombotic Phenotype of Factor V Leiden: Evidence From an Ex Vivo Model.
Arterioscler Thromb Vasc Biol
January 2025
Institute of Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Germany.
Background: Clinical expressivity of the thrombophilic factor V Leiden (FVL) mutation is highly variable. Recently, we demonstrated an increased APC (activated protein C) response in asymptomatic FVL carriers compared with FVL carriers with a history of venous thromboembolism (VTE) after in vivo coagulation activation. Here, we further explored this association using a recently developed ex vivo model based on patient-specific endothelial colony-forming cells (ECFCs).
View Article and Find Full Text PDFFamilial onset of venous thromboembolism due to inherited antithrombin deficiency with a novel gene variant (p.Arg14Gly).
J Cardiol Cases
November 2024
Division of Pulmonary Circulation, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan.
Unlabelled: Inherited antithrombin deficiency is an autosomal dominant thrombophilia, resulting from genetic variations in the serpin family C member 1 (SERPINC1) gene. Antithrombin deficiency increases the risk of venous thromboembolism (VTE) compared to the general population. In this report, a novel missense variant of , c.
View Article and Find Full Text PDFMultifocal osteonecrosis due to the synergistic impact of inherited thrombophilia, autoimmunity, and pregnancy: A case report.
Mod Rheumatol Case Rep
January 2025
Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Article Synopsis
- - Multifocal osteonecrosis is a rare condition that can cause significant bone weakness and fractures, highlighted in a case of a 34-year-old woman whose symptoms worsened during pregnancy.
- - Investigations revealed the patient had an undefined autoimmune condition and low Protein S levels, along with a novel genetic variant related to Protein S deficiency.
- - The combination of inherited thrombophilia, autoimmune issues, and pregnancy-related changes contributed to the patient's severe symptoms, with her genetic variant potentially explaining the link between autoimmunity and thrombophilia.
RNAi targeting LMAN1-MCFD2 complex promotes anticoagulation in mice.
J Thromb Thrombolysis
December 2024
Hematology Department, The Fourth Affiliated Hospital of Soochow University, Suzhou, 215021, China.
Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) is a rare bleeding disease caused by variants in either lectin mannose binding 1 (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2) gene. Reducing the level of FVIII by inhibiting the LMAN1-MCFD2 complex may become a new anticoagulant approach. We aimed to find a new therapeutic option for anticoagulation by RNA interference (RNAi) targeting LMAN1 and MCFD2.
View Article and Find Full Text PDFThe incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension.
Clin Appl Thromb Hemost
August 2024
Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
Introduction: Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637).
Methods: The SNPs of the following genes were investigated: (F V Leiden, rs6025), prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), (rs2289252) and (non-O, rs8176719) in both groups.
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