نتائج البحث - "Jan Rosing"

المساهمون: RS: Carim - B01 Blood proteins & engineering, Biochemie, Vascular Medicine, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Experimental Vascular Medicine

المصدر: Thrombosis and Haemostasis, 120(1), 55-64. Georg Thieme Verlag
Thrombosis and haemostasis, 120(1), 55-64. Schattauer GmbH

مصطلحات موضوعية: MECHANISM, Heterozygote, Lipoproteins, Population, PROTEIN-S, Peptide, FACTOR PATHWAY INHIBITOR, Protein S, CONTRIBUTES, FACTOR-XA, INITIATION, Thrombin, Tissue factor pathway inhibitor, Prothrombinase, medicine, Factor V Leiden, THROMBIN-CATALYZED ACTIVATION, COFACTOR, Humans, education, Blood Coagulation, chemistry.chemical_classification, education.field_of_study, factor V, biology, Homozygote, Factor V, Hematology, PROTHROMBINASE, Blood Coagulation Disorders, medicine.disease, Molecular biology, Peptide Fragments, chemistry, Factor Va, factor V-short, Factor Xa, Mutation, Proteolysis, factor V Leiden, biology.protein, tissue factor pathway inhibitor, INACTIVATION, Blood Coagulation Tests, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9a54bea56a743f5729adadbf71987a3
https://doi.org/10.1055/s-0039-1700516

6

Severe thrombophilia in a factor V‐deficient patient homozygous for the Ala2086Asp mutation (FV Besançon)

المؤلفون: Marie-Christine Alessi, Jan Rosing, Guillaume Mourey, Pierre-Emmanuel Morange, Marjorie Poggi, Elisabetta Castoldi, M. Christella L. G. D. Thomassen, Tilman M. Hackeng, Manal Ibrahim-Kosta, Alexandra Fournel, Catherine P.M. Hayward, Nathalie Hezard, Kanin Wichapong

المساهمون: Hôpital de la Timone [CHU - APHM] (TIMONE), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (RIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS BFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Department of Biochemistry, Maastricht University [Maastricht], Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Canadian Institutes of Health Research (CIHR)MOP 133474, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté]), Biochemie, RS: Carim - B01 Blood proteins & engineering, RS: Carim - B03 Cell biochemistry of thrombosis and haemostasis

المصدر: Journal of Thrombosis and Haemostasis
Journal of Thrombosis and Haemostasis, 2021, 19 (5), pp.1186-1199. ⟨10.1111/jth.15274⟩
Journal of Thrombosis and Haemostasis, Wiley, 2021, 19 (5), pp.1186-1199. ⟨10.1111/jth.15274⟩
Journal of Thrombosis and Haemostasis, 19(5), 1186-1199. Wiley

مصطلحات موضوعية: factor V deficiency, Factor V Deficiency, compared with normal FVa, has both pro- and anticoagulant functions. Objective We investigated an FV-deficient patient (FV:C 3%, 030204 cardiovascular system & hematology, Thrombophilia, but also a lower rate of APC-catalyzed inactivation in the presence of protein S. Conclusions FVBesancon induces a hypercoagulable state via quantitative (markedly decreased FV level) and qualitative (phospholipid-binding defect) effects that affect anticoagulant pathways (anticoagulant activities of FV, Background Coagulation factor V (FV), 03 medical and health sciences, 0302 clinical medicine, Tissue factor pathway inhibitor, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Prothrombinase, V-max) of prothrombin activation, medicine, FVa inactivation, Humans, predicting impaired binding of FV(a) to phospholipids. Recombinant FVBesancon was hardly secreted, Platelet, phospholipids, indicating that this mutation is responsible for the patient's FV deficiency. Model system experiments performed using highly diluted plasma as a source of FV showed that, FVa(Besancon) has slightly (<= 1.5-fold) unfavorable kinetic parameters (K-m, biology, Chemistry, Homozygote, present in plasma and platelets, Factor V, Hematology, medicine.disease, Molecular biology, FVBesancon) that favors a "closed conformation" of the C2 domain, Mutation, biology.protein, activated protein C resistance, tissue factor pathway inhibitor alpha level) more strongly than the prothrombinase activity of FVa. A possible specific role of platelet FV cannot be excluded, venous thrombosis, Blood Coagulation Tests, Activated protein C resistance, thrombin generation in the patient's platelet-rich plasma (PRP) was higher than in control PRP and extremely resistant to activated protein C (APC). This was partially attributable to the complete abolition of the APC-cofactor activity of FV and a marked reduction of plasma tissue factor pathway inhibitor antigen and activity. The patient was homozygous for a novel missense mutation (Ala2086Asp, Protein C, FV:Ag 4%) paradoxically presenting with recurrent venous thrombosis (11 events) instead of bleeding. Methods/Results Thrombophilia screening revealed only heterozygosity for the F2 20210G>A mutation. Although thrombin generation in the patient's platelet-poor plasma was suggestive of a hypocoagulable state, medicine.drug