Antithrombin therapy: Current state and future outlook

GM Rodgers, A Mahajerin - Clinical and Applied Thrombosis …, 2023 - journals.sagepub.com
Antithrombin (AT) is a natural anticoagulant pivotal in inactivating serine protease enzymes
in the coagulation cascade, making it a potent inhibitor of blood clot formation. AT also …

In vivo LNP-CRISPR Approaches for the Treatment of Hemophilia

JH Lee, JP Han - Molecular Diagnosis & Therapy, 2024 - Springer
Hemophilia is a genetic disorder that is caused by mutations in coagulation factor VIII
(hemophilia A) or IX (hemophilia B) genes resulting in blood clotting disorders. Despite …

Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia

K Zhang, H Zhang, D Yu, J Pan, M Wang, H Xie - Gene, 2024 - Elsevier
Introduction Hereditary antithrombin (AT) deficiency is a rare autosomal dominant disorder
with significant clinical heterogeneity. In the study, we identified a patient with AT deficiency …

[HTML][HTML] Perioperative management of venous recanalization in a patient with inherited antithrombin deficiency: case report

J Benzakine, C Rial, N Mohamedi, E Messas… - Research and Practice …, 2024 - Elsevier
Background Inherited antithrombin (AT) deficiency (ATD) is a severe thrombophilia causing
venous thromboembolism, which can be complicated by postthrombotic syndrome (PTS) …

Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case …

Y Huang, Y Wang, X Wang, J Liu, B Luo, Y Gao - Thrombosis Journal, 2023 - Springer
Background Congenital antithrombin deficiency is an autosomal dominant disease that
results in deep venous thrombosis and pulmonary embolism, which is mainly caused by …

A novel mutation p. Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease

M Zeng, K Jia, M Liu, M Wang… - Thrombosis …, 2023 - pubmed.ncbi.nlm.nih.gov
A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency
in a Chinese family with thrombotic disease A novel mutation p.Met1Val in SERPINC1 gene …

[HTML][HTML] Human induced pluripotent stem cells derived from a patient with a mutation of SERPINC1 c. 236G> A (p. R79H)

W Chen, Y Wang, L Shen, S Huang, X Yang, D Wu - Stem Cell Research, 2023 - Elsevier
Mutation of SERPINC1 is related to the incidence of Inherited antithrombin (AT) deficiency.
In this study, we generated a human induced pluripotent stem cell (iPSC) line from …