Zobrazeno 1 - 10 of 55 pro vyhledávání: '"S. R. Poort"'
1
Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency
Autor: A. Sturk, J. Stibbe, E. B. Gómez García, M. Kappers, Rogier M. Bertina, S. R. Poort, M. C. L. Schaap
Publikováno v: British Journal of Haematology. 112:513-518
Congenital factor XIII (FXIII) deficiency is a rare autosomal recessive disorder, usually attributed to a defect in the FXIII A subunit, whose genetic basis has been studied in a number of cases. We describe here the genetic variations found in two u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa2cffcb3308be7744f3e2b969c18307
https://doi.org/10.1046/j.1365-2141.2001.02577.x
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2
Factor X Levels, Polymorphisms in the Promoter Region of Factor X, and the Risk of Venous Thrombosis
Autor: Rogier M. Bertina, S R Poort, Hans L. Vos, Frits R. Rosendaal, Marieke C.H. de Visser
Publikováno v: Thrombosis and Haemostasis. 85:1011-1017
SummaryElevated levels of procoagulant proteins factor II, factor VIII, factor IX, factor XI and fibrinogen are associated with an increased risk of venous thrombosis. In a population-based case-control study on venous thrombosis (Leiden Thrombophili
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::42652d0bcf1e5dc3537d6f19f9ae8c8b
https://doi.org/10.1055/s-0037-1615956
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3
Compound Heterozygosity for One Novel and One Recurrent Mutation in a Thai Patient with Severe Protein S Deficiency
Autor: Parichat Pung-Amritt, S R Poort, Mahasandana C, Gavivann Veerakul, Hans L. Vos, Vinai Suvatte, Rogier M. Bertina, Voravarn S. Tanphaichitr, Suthida Kankirawatana
Publikováno v: Thrombosis and Haemostasis. 81:189-192
SummaryHomozygous or compound heterozygous protein S (PS) deficiency is a very rare disorder in the anticoagulant system, that can lead to life-threatening thrombotic complications shortly after birth. This report describes the results of the genetic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2d1fae311513d8e4099a72a8a0caefb3
https://doi.org/10.1055/s-0037-1614440
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4
Two novel mutations in the prothrombin gene cause severe bleeding in a compound heterozygous patient
Autor: S R Poort, R M Bertina, Hans L. Vos, K. T. Njo
Publikováno v: Blood Coagulation & Fibrinolysis. 9:761-769
Hypoprothrombinemia is a rare hereditary coagulation defect characterized by low levels of biologically active prothrombin. In this paper we report the laboratory and genetic analysis of a patient with a severe hypoprothrombinemia and some of her rel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7413e09d95e6f66e2c31d77966e41d86
https://doi.org/10.1097/00001721-199811000-00007
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5
A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis
Autor: Frits R. Rosendaal, Pieter H. Reitsma, S R Poort, Rogier M. Bertina
Publikováno v: Blood. 88:3698-3703
We have examined the prothrombin gene as a candidate gene for venous thrombosis in selected patients with a documented familial history of venous thrombophilia. All the exons and the 5′- and 3′-UT region of the prothrombin gene were analyzed by p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aef84f186ccd2b2e23dd96667435ea5f
https://doi.org/10.1182/blood.v88.10.3698.bloodjournal88103698
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6
Factor IX Zutphen: a Cys18→Arg mutation results in formation of a heterodimer with α1-microglobulin and the inability to form a calcium-induced conformation
Autor: Rosemiek Cupers, S R Poort, R M Bertina, E. G. C. Wojcik, M. Van Den Berg, I K van der Linden
Publikováno v: Biochemical Journal. 311:753-759
Factor IX Zutphen is a variant factor IX molecule isolated from the blood of a patient with severe haemophilia B. The molecular defect in factor IX Zutphen is a Cys18-->Arg mutation as a result of a T-->C transition at residue 6427 of the factor IX g
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcfc4e9fb692ece2991419f8a1fd336f
https://doi.org/10.1042/bj3110753
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7
Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study) [see comments]
Autor: Pieter H. Reitsma, F. J. M. Van Der Meer, Ernest Briët, S R Poort, P. H. Trienekens, Ted Koster, L. P. Colly, Jan P. Vandenbroucke, Frits R. Rosendaal
Publikováno v: Blood. 85:2756-2761
A deficiency of protein C (PC), antithrombin, or protein S is strongly associated with deep-vein thrombosis in selected patients and their families. However, the strength of the association with venous thrombosis in the general population is unknown.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c61d8b1bcbdb085510768b00f61f848f
https://doi.org/10.1182/blood.v85.10.2756.bloodjournal85102756
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8
Prevalence of Protein C Deficiency in the Healthy Population
Autor: Pieter H. Reitsma, S. I. A. M. Islam, J. A. Conkie, S R Poort, Rogier M. Bertina, Isobel D. Walker, Robert Campbell Tait, Frances McCall
Publikováno v: Thrombosis and Haemostasis. 73:087-093
SummaryReported prevalence rates for protein C (PC) deficiency in the population at large have varied widely. The differences presumably reflect the existence of an apparently high number of clinically recessive forms of the deficiency. In an attempt
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bc9481303cb2927d805c8bae9f2ae899
https://doi.org/10.1055/s-0038-1653730
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10
Binding of recombinant annexin V to endothelial cells: effect of annexin V binding on endothelial-cell-mediated thrombin formation
Autor: P. G. De Groot, Chris P. M. Reutelingsperger, C van 't Veer, S R Poort, W.L. van Heerde
Publikováno v: Biochemical journal, 302 ( Pt 1), 305-312. Portland Press Ltd.
Annexin V binds with high affinity to procoagulant phospholipid vesicles and thereby inhibits the procoagulant reactions catalysed by these surfaces in vitro. In vivo, vascular endothelial cells are known to catalyse the formation of thrombin by the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd7369ab523dcb081f6633b1fd794d14
https://doi.org/10.1042/bj3020305
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