Quantitative protein mass spectrometry for multiplex measurement of coagulation and fibrinolytic proteins towards clinical application: What, why and how?

E Camilleri, M Kruijt, PL den Exter, SC Cannegieter… - Thrombosis …, 2024 - Elsevier
Plasma proteins involved in coagulation and fibrinolysis are essential to hemostasis.
Consequently, their circulating levels and functionality are critical in bleeding and …

Next Generation Sequencing strategies in venous thromboembolism: in whom and for what purpose?

DA Trégouët, M Pierre-Emmanuel - Journal of Thrombosis and …, 2024 - Elsevier
This invited review follows the oral presentation" To Sequence or Not to Sequence, That Is
Not the Question; But" When, Who, Which and What For?" Is “given during the State Of the …

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 …

Antithrombin deficiency is associated with prothrombotic plasma fibrin clot phenotype

J Natorska, J Corral… - Thrombosis and …, 2023 - thieme-connect.com
Background Deficiency of antithrombin increases risk of venous thromboembolism. We
hypothesized that antithrombin deficiency affects fibrin clot structure and function. Methods …

[HTML][HTML] Functional, biochemical, molecular and clinical characterization of antithrombin c. 1157T> C (p. Ile386Thr), a recurrent Polish variant with a founder effect

A Weronska, B De la Morena-Barrio… - …, 2023 - ncbi.nlm.nih.gov
The prevalence of AT deficiency, which is evaluated mainly by chromogenic methods using
anti-FXa functional assays, 2 is estimated at 0.02% to 0.2% of the general population, 3 and …

The biological function of Serpinb9 and Serpinb9-based therapy

H Huang, Y Mu, S Li - Frontiers in Immunology, 2024 - frontiersin.org
Recent breakthroughs in discovering novel immune signaling pathways have revolutionized
different disease treatments. SERPINB9 (Sb9), also known as Proteinase Inhibitor 9 (PI-9), is …

Proteomics analysis of plasm exosomes in early pregnancy among normal pregnant women and those with antiphospholipid syndrome

Y Sun, Z Wang, J Li, T Wang, Y Tan - Heliyon, 2024 - cell.com
Introduction Antiphospholipid syndrome (APS) is an autoimmune disorder associated with
thrombosis and adverse obstetric outcomes. Early diagnosis and intervention can improve …

Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations

J Kállai, R Gindele, K Pénzes-Daku, G Balogh… - International Journal of …, 2024 - mdpi.com
Antithrombin (AT) is the major plasma inhibitor of thrombin (FIIa) and activated factor X
(FXa), and antithrombin deficiency (ATD) is one of the most severe thrombophilic disorders …

Functional analysis of two abnormal antithrombin proteins with different intracellular kinetics

Y Imai, S Nagaya, Y Araiso, M Meguro-Horike… - Thrombosis …, 2023 - Elsevier
Introduction Hereditary antithrombin (AT) deficiency type I causes venous thrombosis due to
decreased levels of AT antigen in the blood. We identified one novel and one known …

Thrombophilia Screening: Not So Straightforward

GW Moore - Seminars in Thrombosis and Hemostasis, 2024 - thieme-connect.com
Although inherited thrombophilias are lifelong risk factors for a first thrombotic episode,
progression to thrombosis is multifactorial and not all individuals with inherited …