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Clinical and functional characterization of p.Lys322stop variant in the SERPINC1 gene causing severe thrombophilia.
Orphanet J Rare Dis
December 2024
Thrombosis Research Center, Beijing Jishuitan Hospital, Capital Medical University, Xicheng District, Beijing, 100035, China.
Background: Identification of mutations in the SERPINC1 has illuminated the intricate pathways underlying antithrombin (AT) deficiency. Our group identified a variation in the SERPINC1 gene (c.964 A > T, p.
View Article and Find Full Text PDFModulation of Haemostatic Balance in Combined von Willebrand Disease and Antithrombin Deficiency: A Comprehensive Family Study.
Haemophilia
December 2024
Institute of Experimental Hematology and Transfusion Medicine, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany.
Introduction: Maintaining the balance between procoagulant and anticoagulant factors is essential for effective haemostasis. Emerging evidence suggests a modulation of bleeding tendency by factors in the anticoagulant and fibrinolytic systems.
Aim: This study investigates the clinical and laboratory characteristics of a family with combined von Willebrand disease (VWD) and antithrombin (AT) deficiency.
Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.
J Thromb Haemost
December 2024
C2VN, INSERM, INRAE, Aix Marseille University, Marseille, France; Laboratory of Haematology, La Timone Hospital, Marseille, France. Electronic address:
Background: Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment.
Objectives: We report the results of a panel strategy after 3 years of application.
Identification of two point mutations associated with inherited antithrombin deficiency.
Thromb J
December 2024
Hemophilia Care and Research Center, Tri-Service General Hospital, Taipei, Taiwan.
Background: Antithrombin (AT) is a serine protease inhibitor which exerts its anticoagulant effect through binding to serine residues in the active centers of procoagulant serine proteases. Its deficiency is associated with increased risk of venous thrombosis. We aim to investigate the pathogenic mechanism of two natural mutants (W221C and M284R) in inherited AT deficiency.
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.
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