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References

  • Brinkhous, K.M., Graham, J.E., Cooper, H.A., Allain, J.P. & Wagner, R.H. (1975) Assay of von Willebrand factor in von Willebrand's disease and haemophilia: use of a macroscopic platelet aggregation test. Thrombosis Research, 6, 267272.
  • De Groot, P.G., Federici, A.B., De Boer, H.C., D'Alessio, P., Mannucci, P.M. & Sixma, J.J. (1989) Von Willebrand factor synthesized by endothelial cells from a patient with type IIB von Willebrand disease supports platelet adhesion normally but has an increased affinity for platelets. Proceedings of the National Academy of Sciences of the United States of America, 86, 37933797.
  • Facey, D.A., Favaloro, E.J., Koutts, J., Berndt, M.C. & Hertzberg, M.S. (1999) Identification and characterization of a novel mutation in von Willebrand factor causing type 2B von Willebrand's disease. British Journal of Haematology, 105, 538541.
  • Federici, A.B., Castaman, G. & Mannucci, P.M. (2002) Guidelines for the diagnosis and management of von Willebrand disease in Italy. Haemophilia, 8, 607621.
  • Fujimura, Y., Titani, K., Holland, L.Z., Russell, S.R., Roberts, J.R., Elder, J.H., Ruggeri, Z.M. & Zimmerman, T.S. (1986) Von Willebrand factor. A reduced and alkylated 52/48 kDa fragment beginning at amino acid residue 449 contains the domain interacting with platelet glycoprotein Ib. Journal of Biological Chemistry , 261, 381385.
  • Gaucher, C., De Romeuf, C., Rauïs-Morret, M., Corazza, F., Fondu, P. & Mazurier, C. (1995) Diagnosis of subtype 2B von Willebrand disease in a patient with 2A phenotype of plasma von Willebrand factor. Thrombosis and Haemostasis, 73, 610616.
  • Hilbert, L., Gaucher, C. & Mazurier, C. (1995) Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor. British Journal of Haematology, 91, 983990.
  • Hilbert, L., Gaucher, C., Abgrall, J.F., Parquet, A., Trzeciak, C. & Mazurier C. (1998) Identification of a new type 2B von Willebrand disease mutation Arg543Gln, Arg545Pro and Arg578Leu. British Journal of Haematology, 103, 877884.
  • Hilbert, L., Fressinaud, E., Ribba, A.S., Meyer, D., Mazurier, C. & the INSERM network on molecular abnormalities in von Willebrand disease. (2002) Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor. Thrombosis and Haemostasis, 87, 635640.
  • Hillery, C.A., Mancuso, D.J., Sadler, J.E., Ponder, J.W., Jozwiak, M.A., Christopherson, P.A., Gill, J.C., Scott, J.P. & Montgomery, R.R. (1998) Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin-but not botrocetin-mediated binding of von Willebrand factor to platelets. Blood, 91, 15721581.
  • MacFarlane, D.E., Stibbe, J., Kirby, E.P., Zucker, M.B., Grant, R.A. & McPherson J. (1975) Letter: a method for assaying von Willebrand factor (ristocetin cofactor). Thrombosis Diathesis Haemorrhagica 34, 306308.
  • Matsushita, T. & Sadler J.E. (1995) Identification of amino acid residues essential for von Willebrand factor binding to platelet glycoprotein Ib. Charged-to alanine scanning mutagenesis of the A1 domain of human von Willebrand factor. Journal of Bilogical Chemistry 270, 1340613414.
  • Mazurier, C., Parquet-Gernez, A. & Goudemand, M. (1980) The assay of factor VIII-related antigen by an immunoenzymatic method. Thrombosis and Haemostasis, 43, 71.
  • Mazurier, C., Parquet-Gernez, A., Goudemand, J., Taillefer, M.F. & Goudemand, M. (1988) Investigation of a large kindred with type IIB von Willebrand's disease, dominant inheritance and age-dependent thrombocytopenia. British Journal of Haematology, 69, 499505.
  • Meulien, P., Nishino, M., Mazurier, C., Dott, K., Jorieux, S., Pavirani, A., Girma, J.P., Oufkir, D., Courtney, M. & Meyer, D. (1992) Processing and characterization of recombinant von Willebrand factor expressed in different cell types using a vaccinia virus vector. Thrombosis and Haemostasis, 67, 154160.
  • Meyer, D., Fressinaud, E., Hilbert, L., Ribba, A.S., Lavergne, J.M. & Mazurier, C. (2001) Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function. Best Practice and Research Clinical Haematology 14, 349364.
  • Miura, S., Li, C.Q., Cao, Z., Wang, H., Wardell, M.R. & Sadler, J.E. (2000) Interaction of von factor Willebrand factor domain A1 with platelet glycoprotein Ibalpha (1–289). Slow intrinsic binding kinetics mediate rapid platelet adhesion. Journal of Biological Chemistry, 275, 75397546.
  • Mohri, H., Yoshioka, A., Zimmerman, T.S. & Ruggeri, Z.M. (1989) Isolation of the von Willebrand factor domain interacting with platelet glycoprotein Ib, heparin and collagen characterization of its three distinct functional sites. Journal of Biological Chemistry 264, 1736117367.
  • Nakayama, T., Matsushita, T., Dong, Z., Sadler, J.E., Jorieux, S., Mazurier, C., Meyer, D., Kojima, T. & Saito, H. (2002) Identification of the regulatory elements of the human von Willebrand factor for binding to platelet GPIb. Importance of structural integrity of the regions flanked by Cys1272–Cys1458 disulfide bond. Journal of Biochemical Chemistry, 277, 2206322072.
  • Ribba, A.S., Hilbert, L., Lavergne, J.M., Fressinaud, E., Boyer-Neumann, C., Ternisien, C., Juhan-Vague, I., Goudemand, J., Girma, JP., Mazurier, C. & Meyer D. (2001) The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor. Blood, 97, 952959.
  • Ruggeri, Z.M., Pareti, F.I., Mannucci, P.M., Ciavarella, N. & Zimmerman, T.S. (1980) Heightened interaction between platelets and factor VIII/von Willebrand in a new subtype of von Willebrand's disease. New England Journal of Medicine, 302, 10471051.
  • Sadler, J.E. (1994) A revised classification of von Willebrand disease. Thrombosis and Haemostasis, 71, 520525.
  • Schumpp-Vonach, B., Kresbach, G., Schlaeger, E.J. & Steiner, B. (1995) Stable expression in Chinese hamster ovary cells of a homogeneous recombinant active fragment of human platelet glycoprotein Ib α. Cytotechnology, 17, 133141.
  • Scott, J.P., Montgomery, R.R. & Retzinger G.S. (1991) Dimeric ristocetin flocculates proteins, binds to platelets, and mediates von Willebrand factor-dependent agglutination of platelets. Journal of Biological Chemistry, 266, 81498155.
  • Stepanian, A., Ribba, A.S., Lavergne, J.M., Fressinaud, E., Juhan-Vague, I., Mazurier, C. & Meyer, D. (2003) A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease. British Journal of Haematology, 120, 643651.
  • Vanhoorelbeke, K., Cauwenberghs, N., Vauterin, S., Schlammadinger, A., Mazurier, C. & Deckmyn, H. (2000) A reliable and reproducible ELISA method to measure ristocetin cofactor activity of von Willebrand factor. Thrombosis and Haemostasis, 83, 107113.
  • Vanhoorelbeke, K., Cauwenbergh, N., Vandecasteel, G., Vauterin, S. & Deckmyn, H. (2002) Reliable von Willebrand factor: ristocetin cofactor enzyme-linked immunosorbent assay to differentiate between type 1 and type 2 von Willebrand disease. Seminars in Thrombosis and Haemostasis, 28, 161166.
  • Veyradier, A., Fressinaud, E., Sigaud, M., Wolf, M. & Meyer, D. (1999) A new automated method for von Willebrand factor antigen measurement using latex particles. Thrombosis and Haemostasis, 81, 320321.
  • Vicente, V., Houghten, R.A. & Ruggeri, Z.M. (1990) Identification of a site in the alpha chain of platelet glycoprotein Ib that participates in von Willebrand factor binding. Journal of Biological Chemistry, 265, 274280.
  • Weiss, H.J. & Sussman, I.I. (1986) A new von Willebrand variant (type I, New York): increased ristocetin-induced platelet agregation and plasma von Willebrand factor containing the full range of multimers. Blood, 68, 149156.
  • Weiss, H.J., Meyer, D., Rabinowitz, R., Pietu, G., Girma, J.P., Vicic, W.J. & Rogers J. (1982) Pseudo von Willebrand's disease: an intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high molecular weight multimers. New England Journal of Medicine, 306, 326333.