Associated Papers
De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.
Garrido-Rodríguez P et al.
Haematologica, 2026
Clinical and functional characterization of a novel heterozygous mutation c.473T > A (p.Leu158Gln) in the SERPINC1 gene causing recurrent arteriovenous thrombophilia.
Chongxia Z et al.
Thrombosis Journal, 2025
Diagnostic Performance of Commercial Antithrombin Activity Assays: Do We Get What We Expect?
Orlando C et al.
Thrombosis and Haemostasis, 2025
Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect.
Weronska A et al.
Haematologica, 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.
Orlando C et al.
Thrombosis and Haemostasis, 2021
Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.
Maruyama K et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Genetic modifiers of long-term survival in sickle cell anemia.
Wonkam A et al.
Clinical and Translational Medicine, 2020
Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency.
Alhenc-Gelas M et al.
Thrombosis and Haemostasis, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.
Luxembourg B et al.
Thrombosis Research, 2015
Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.
Sun HY et al.
Journal of Chemical Information and Modeling, 2013
Sequence, phylogenetic and variant analyses of antithrombin III.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2013
An extensive interaction interface between thrombin and factor V is required for factor V activation.
Myles T et al.
The Journal of Biological Chemistry, 2001
Functional requirements for inhibition of thrombin by antithrombin III in the presence and absence of heparin.
Tsiang M et al.
The Journal of Biological Chemistry, 1997