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Selectin haplotypes and the risk of venous thrombosis: influence of linkage disequilibrium with the factor V Leiden mutation

Autor: F. R. Rosendaal, R M Bertina, S. Uitte De Willige, M. de Visser, H. L. Vos, Jeanine J. Houwing-Duistermaat

Publikováno v: Journal of Thrombosis and Haemostasis. 6:478-485

Summary. Background: Selectins (E-, L- and P-selectin) and their most important counter-receptor P-selectin glycoprotein ligand (SELPLG) facilitate the interaction of platelets, leukocytes and endothelial cells at inflammatory sites. Selectin polymor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0f56182c81076bef40e971a35837872
https://doi.org/10.1111/j.1538-7836.2007.02879.x

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Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease

Autor: Giancarlo Castaman, Jeroen Eikenboom, Rogier M. Bertina, H. L. Vos, P. Tjernberg

Publikováno v: British Journal of Haematology. 133:409-418

Summary The missense mutation of cysteine 2362 to a phenylalanine in von Willebrand factor (VWF) has been detected in several Italian families with autosomal recessive, severe von Willebrand disease. We investigated how this amino acid change in VWF

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0f35270abd0ead29315cbbe32efb073
https://doi.org/10.1111/j.1365-2141.2006.06055.x

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Association between thrombin activatable fibrinolysis inhibitor genotype and levels in plasma: comparison of different assays

Autor: H. L. Vos, Dingeman C. Rijken, R M Bertina, A. H. C. Guimarães, N H van Tilburg

Publikováno v: British Journal of Haematology. 124:659-665

Thrombin activatable fibrinolysis inhibitor (TAFI) antigen levels exhibit a large interindividual variability in which genetic control seems to play a major role. However, recent reports have questioned the association between TAFI concentration and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0e15383eb866759cf62980ee3ae0861c
https://doi.org/10.1111/j.1365-2141.2004.04824.x

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Linkage analysis of factor VIII and von Willebrand factor loci as quantitative trait loci

Autor: L. A. Sandkuijl, M. de Visser, F. R. Rosendaal, R M Bertina, Ruud Lensen, H. L. Vos

Publikováno v: Journal of Thrombosis and Haemostasis. 1:1771-1776

Summary. Elevated factor (F)VIII levels contribute to venous thrombotic risk. FVIII levels are determined to a large extent by levels of von Willebrand factor (VWF), its carrier protein which protects FVIII against proteolysis. VWF levels are largely

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b587f3327ee78de4d7637936db7fdb4e
https://doi.org/10.1046/j.1538-7836.2003.00314.x

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A STAT-responsive Element in the Promoter of the Episialin/MUC1 Gene Is Involved in Its Overexpression in Carcinoma Cells

Autor: I Gaemers, John Hilkens, S W van der Valk, H H Volders, H. L. Vos

Publikováno v: Journal of biological chemistry, 276(9), 6191-6199. American Society for Biochemistry and Molecular Biology Inc.

The mucin-like glycoprotein episialin (MUC1) is highly overproduced by a number of human carcinomas. We have shown previously in a variety of mammalian cell lines that overexpression of this very large transmembrane molecule diminishes cellular adhes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d9bd4d0d7fbc3ae4e6dac8c5406a47b
https://doi.org/10.1074/jbc.m009449200

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A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis

Autor: Mark R. Johnson, Clair A. Francomano, R I Ortiz de Luna, Mihael H. Polymeropoulos, H. L. Vos

Publikováno v: Genome Research. 6:1050-1055

Pycnodysostosis (MIM 265800) is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone density and fragility. Linkage analysis localized the disease gene to human chromosome 1q21, and s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e39f858f10fdcae63eaa3889f33e95
https://doi.org/10.1101/gr.6.11.1050

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Haplotypes of VKORC1, NQO1 and GGCX, their effect on activity levels of vitamin K-dependent coagulation factors, and the risk of venous thrombosis

Autor: Pieter H. Reitsma, M. de Visser, J. W. Rutten, A. van Hylckama Vlieg, F.R. Rosendaal, Sara Roshani, H. L. Vos

Publikováno v: Thrombosis and Haemostasis, 106, 563-5
Thrombosis and Haemostasis, 106, 3, pp. 563-5

Haplotypes of VKORC1, NQO1 and GGCX, their effect on activity levels of vitamin K-dependent coagulation factors, and the risk of venous thrombosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::874c2cecb9f2a07baecf97c13e9dd445
http://hdl.handle.net/2066/95946

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The minor allele of GP6 T13254C is associated with decreased platelet activation and a reduced risk of recurrent cardiovascular events and mortality: results from the SMILE-Platelets project

Autor: Chris E. Holmes, Jeroen Eikenboom, J. G. van der Bom, H. L. Vos, David M. Herrington, Jaapjan D. Snoep, Jaap Jan Zwaginga, Paul F. Bray, Joseph Emmerich, Ph. G. De Groot, Pascale Gaussem, Frits R. Rosendaal

Publikováno v: Journal of Thrombosis and Haemostasis, 8(11), 2377-2384
Journal of Thrombosis and Haemostasis, 8(11), 2377-84

Summary. Background: Contradictory results have been published on the effects of T13254C (rs1613662), which distinguishes the two major isoforms of GP6, the gene encoding the platelet receptor glycoprotein VI, on platelet function and the risk of car

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9518351fe9fdce06bb8caeda13643d81
http://hdl.handle.net/1887/109965

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