메뉴 건너뛰기




Volumn 42, Issue 1, 2005, Pages 15-28

Phenotypic and genotypic diagnosis of von Willebrand disease: A 2004 update

Author keywords

[No Author keywords available]

Indexed keywords

VON WILLEBRAND FACTOR;

EID: 12344262502     PISSN: 00371963     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminhematol.2004.10.002     Document Type: Article
Times cited : (48)

References (73)
  • 1
    • 0022649078 scopus 로고
    • 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
    • Y. Fujimura, K. Titani, L.Z. Holland, S.R. Russell, J.R. Roberts, J.H. Elder 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 J Biol Chem 261 1986 381 385
    • (1986) J Biol Chem , vol.261 , pp. 381-385
    • Fujimura, Y.1    Titani, K.2    Holland, L.Z.3    Russell, S.R.4    Roberts, J.R.5    Elder, J.H.6
  • 3
    • 0023217139 scopus 로고
    • A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor
    • P.A. Foster, C.A. Fulcher, T. Marti, K. Titani, T.S. Zimmerman A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor J Biol Chem 262 1987 8443 8446
    • (1987) J Biol Chem , vol.262 , pp. 8443-8446
    • Foster, P.A.1    Fulcher, C.A.2    Marti, T.3    Titani, K.4    Zimmerman, T.S.5
  • 4
    • 0023230265 scopus 로고
    • Isolation and characterization of two domains of human von Willebrand factor that interact with fibrillar collagen types I and III
    • F.I. Pareti, K. Niiya, J.M. McPherson, Z.M. Ruggeri Isolation and characterization of two domains of human von Willebrand factor that interact with fibrillar collagen types I and III J Biol Chem 262 1987 13835 13841
    • (1987) J Biol Chem , vol.262 , pp. 13835-13841
    • Pareti, F.I.1    Niiya, K.2    McPherson, J.M.3    Ruggeri, Z.M.4
  • 5
    • 0024401499 scopus 로고
    • Isolation of the von Willebrand factor domain interacting with platelet glycoprotein Ib, heparin, and collagen and characterization of its three distinct functional sites
    • H. Mohri, A. Yoshioka, T.S. Zimmerman, Z.M. Ruggeri Isolation of the von Willebrand factor domain interacting with platelet glycoprotein Ib, heparin, and collagen and characterization of its three distinct functional sites J Biol Chem 264 1989 17361 17367
    • (1989) J Biol Chem , vol.264 , pp. 17361-17367
    • Mohri, H.1    Yoshioka, A.2    Zimmerman, T.S.3    Ruggeri, Z.M.4
  • 6
    • 1242308290 scopus 로고    scopus 로고
    • Platelet and von Willebrand factor interactions at the vessel wall
    • Z.M. Ruggeri Platelet and von Willebrand factor interactions at the vessel wall Hamostaseologie 24 2004 1 11
    • (2004) Hamostaseologie , vol.24 , pp. 1-11
    • Ruggeri, Z.M.1
  • 7
    • 0017754787 scopus 로고
    • Stabilization of factor VIII in plasma by the von Willebrand factor. Studies on posttransfusion and dissociated factor VIII and in patients with von Willebrand's disease
    • H.J. Weiss, I.I. Sussman, L.W. Hoyer Stabilization of factor VIII in plasma by the von Willebrand factor. Studies on posttransfusion and dissociated factor VIII and in patients with von Willebrand's disease J Clin Invest 60 1977 390 404
    • (1977) J Clin Invest , vol.60 , pp. 390-404
    • Weiss, H.J.1    Sussman, I.I.2    Hoyer, L.W.3
  • 8
    • 0030271856 scopus 로고    scopus 로고
    • Effect of multimerization of human and recombinant von Willebrand factor on platelet aggregation, binding to collagen and binding of coagulation factor VIII
    • B.E. Fischer, G. Kramer, A. Mitterer, L. Grillberger, M. Reiter, W. Mundt Effect of multimerization of human and recombinant von Willebrand factor on platelet aggregation, binding to collagen and binding of coagulation factor VIII Thromb Res 84 1996 55 66
    • (1996) Thromb Res , vol.84 , pp. 55-66
    • Fischer, B.E.1    Kramer, G.2    Mitterer, A.3    Grillberger, L.4    Reiter, M.5    Mundt, W.6
  • 9
    • 0026561993 scopus 로고
    • Vicinal cysteines in the prosequence play a role in von Willebrand factor multimer assembly
    • T.N. Mayadas, D.D. Wagner Vicinal cysteines in the prosequence play a role in von Willebrand factor multimer assembly Proc Natl Acad Sci U S A 89 1992 3531 3535
    • (1992) Proc Natl Acad Sci U S a , vol.89 , pp. 3531-3535
    • Mayadas, T.N.1    Wagner, D.D.2
  • 10
    • 0023547917 scopus 로고
    • Identification of disulfide-bridged substructures within human von Willebrand factor
    • T. Marti, S.J. Rosselet, K. Titani, K.A. Walsh Identification of disulfide-bridged substructures within human von Willebrand factor Biochemistry 26 1987 8099 8109
    • (1987) Biochemistry , vol.26 , pp. 8099-8109
    • Marti, T.1    Rosselet, S.J.2    Titani, K.3    Walsh, K.A.4
  • 11
    • 0029916821 scopus 로고    scopus 로고
    • Defective dimerization of von Willebrand factor subunits due to a Cys→Arg mutation in type IID von Willebrand disease
    • R. Schneppenheim, J. Brassard, S. Krey, U. Budde, T.J. Kunicki, L. Holmberg Defective dimerization of von Willebrand factor subunits due to a Cys→Arg mutation in type IID von Willebrand disease Proc Natl Acad Sci U S A 93 1996 3581 3586
    • (1996) Proc Natl Acad Sci U S a , vol.93 , pp. 3581-3586
    • Schneppenheim, R.1    Brassard, J.2    Krey, S.3    Budde, U.4    Kunicki, T.J.5    Holmberg, L.6
  • 12
    • 0035312967 scopus 로고    scopus 로고
    • Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease
    • R. Schneppenheim, U. Budde, T. Obser, J. Brassard, K. Mainusch, Z.M. Ruggeri Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease Blood 97 2001 2059 2066
    • (2001) Blood , vol.97 , pp. 2059-2066
    • Schneppenheim, R.1    Budde, U.2    Obser, T.3    Brassard, J.4    Mainusch, K.5    Ruggeri, Z.M.6
  • 13
    • 0003228197 scopus 로고    scopus 로고
    • Von Willebrand disease type 2A with aberrant structure of individual oligomers is caused by mutations clustering in the von Willebrand factor D3 domain
    • R. Schneppenheim, T. Obser, S. Schneppenheim, K. Mainusch, D. Angerhaus, U. Budde Von Willebrand disease type 2A with aberrant structure of individual oligomers is caused by mutations clustering in the von Willebrand factor D3 domain Blood 96 2000 566a (abstr)
    • (2000) Blood , vol.96
    • Schneppenheim, R.1    Obser, T.2    Schneppenheim, S.3    Mainusch, K.4    Angerhaus, D.5    Budde, U.6
  • 14
    • 0028040776 scopus 로고
    • Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease
    • C. Gaucher, J. Dieval, C. Mazurier Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease Blood 84 1994 1024 1030
    • (1994) Blood , vol.84 , pp. 1024-1030
    • Gaucher, C.1    Dieval, J.2    Mazurier, C.3
  • 15
    • 0029027280 scopus 로고
    • Identification of a candidate missense mutation in a family with von Willebrand disease type IIC
    • R. Schneppenheim, K.B. Thomas, S. Krey, U. Budde, U. Jessat, A.H. Sutor Identification of a candidate missense mutation in a family with von Willebrand disease type IIC Hum Genet 95 1995 681 686
    • (1995) Hum Genet , vol.95 , pp. 681-686
    • Schneppenheim, R.1    Thomas, K.B.2    Krey, S.3    Budde, U.4    Jessat, U.5    Sutor, A.H.6
  • 16
    • 0031596758 scopus 로고    scopus 로고
    • Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease
    • L. Holmberg, D. Karpman, C. Isaksson, A.C. Kristoffersson, S. Lethagen, R. Schneppenheim Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease Thromb Haemost 79 1998 718 722
    • (1998) Thromb Haemost , vol.79 , pp. 718-722
    • Holmberg, L.1    Karpman, D.2    Isaksson, C.3    Kristoffersson, A.C.4    Lethagen, S.5    Schneppenheim, R.6
  • 17
    • 0034661897 scopus 로고    scopus 로고
    • A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion
    • S. Allen, A.M. Abuzenadah, J. Hinks, J.L. Blagg, T. Gursel, J. Ingerslev A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion Blood 96 2000 560 568
    • (2000) Blood , vol.96 , pp. 560-568
    • Allen, S.1    Abuzenadah, A.M.2    Hinks, J.3    Blagg, J.L.4    Gursel, T.5    Ingerslev, J.6
  • 18
    • 0036721163 scopus 로고    scopus 로고
    • The role of the D1 domain of the von Willebrand factor propeptide in multimerization of VWF
    • J.B. Rosenberg, S.L. Haberichter, M.A. Jozwiak, E.A. Vokac, P.A. Kroner, S.A. Fahs The role of the D1 domain of the von Willebrand factor propeptide in multimerization of VWF Blood 100 2002 1699 1706
    • (2002) Blood , vol.100 , pp. 1699-1706
    • Rosenberg, J.B.1    Haberichter, S.L.2    Jozwiak, M.A.3    Vokac, E.A.4    Kroner, P.A.5    Fahs, S.A.6
  • 19
    • 0018871618 scopus 로고
    • Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease
    • Z.M. Ruggeri, F.I. Pareti, P.M. Mannucci, N. Ciavarella, T.S. Zimmerman Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease N Engl J Med 302 1980 1047 1051
    • (1980) N Engl J Med , vol.302 , pp. 1047-1051
    • Ruggeri, Z.M.1    Pareti, F.I.2    Mannucci, P.M.3    Ciavarella, N.4    Zimmerman, T.S.5
  • 21
    • 0025146333 scopus 로고
    • 1-Desamino-8-D-arginine vasopressin (DDAVP) infusion in type IIB von Willebrand's disease: Shortening of bleeding time and induction of a variable pseudothrombocytopenia
    • A. Casonato, M.T. Sartori, L. de Marco, A. Girolami 1-Desamino-8-D- arginine vasopressin (DDAVP) infusion in type IIB von Willebrand's disease Shortening of bleeding time and induction of a variable pseudothrombocytopenia Thromb Haemost 64 1900 117 120
    • (1900) Thromb Haemost , vol.64 , pp. 117-120
    • Casonato, A.1    Sartori, M.T.2    De Marco, L.3    Girolami, A.4
  • 22
    • 0026754609 scopus 로고
    • Type IIB von Willebrand's disease: Gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden
    • M. Donner, A.C. Kristoffersson, H. Lenk, E. Scheibel, B. Dahlback, I.M. Nilsson Type IIB von Willebrand's disease Gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden Br J Haematol 82 1992 58 65
    • (1992) Br J Haematol , vol.82 , pp. 58-65
    • Donner, M.1    Kristoffersson, A.C.2    Lenk, H.3    Scheibel, E.4    Dahlback, B.5    Nilsson, I.M.6
  • 23
    • 0024425034 scopus 로고
    • New variant of von Willebrand disease with defective binding to factor VIII
    • M. Nishino, J.P. Girma, C. Rothschild, E. Fressinaud, D. Meyer New variant of von Willebrand disease with defective binding to factor VIII Blood 74 1989 1591 1599
    • (1989) Blood , vol.74 , pp. 1591-1599
    • Nishino, M.1    Girma, J.P.2    Rothschild, C.3    Fressinaud, E.4    Meyer, D.5
  • 25
    • 0025817840 scopus 로고
    • The "normandy" variant of von Willebrand disease: Characterization of a point mutation in the von Willebrand factor gene
    • C. Gaucher, S. Jorieux, B. Mercier, D. Oufkir, C. Mazurier The "Normandy" variant of von Willebrand disease Characterization of a point mutation in the von Willebrand factor gene Blood 77 1991 1937 1941
    • (1991) Blood , vol.77 , pp. 1937-1941
    • Gaucher, C.1    Jorieux, S.2    Mercier, B.3    Oufkir, D.4    Mazurier, C.5
  • 26
    • 0025766750 scopus 로고
    • Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction
    • P.M. Cacheris, W.C. Nichols, D. Ginsburg Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction J Biol Chem 266 1991 13499 13502
    • (1991) J Biol Chem , vol.266 , pp. 13499-13502
    • Cacheris, P.M.1    Nichols, W.C.2    Ginsburg, D.3
  • 27
    • 0029842964 scopus 로고    scopus 로고
    • Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia a or von Willebrand disease type 1
    • R. Schneppenheim, U. Budde, S. Krey, E. Drewke, F. Bergmann, E. Lechler Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1 Thromb Haemost 76 1996 598 602
    • (1996) Thromb Haemost , vol.76 , pp. 598-602
    • Schneppenheim, R.1    Budde, U.2    Krey, S.3    Drewke, E.4    Bergmann, F.5    Lechler, E.6
  • 28
    • 3543041260 scopus 로고    scopus 로고
    • Recombinant expression of mutations causing von Willebrand disease type Normandy: Characterization of a combined defect of factor VIII binding and multimerization
    • R. Schneppenheim, H. Lenk, T. Obser, J. Oldenburg, F. Oyen, S. Schneppenheim Recombinant expression of mutations causing von Willebrand disease type Normandy Characterization of a combined defect of factor VIII binding and multimerization Thromb Haemost 92 2004 36 41
    • (2004) Thromb Haemost , vol.92 , pp. 36-41
    • Schneppenheim, R.1    Lenk, H.2    Obser, T.3    Oldenburg, J.4    Oyen, F.5    Schneppenheim, S.6
  • 29
    • 0028201807 scopus 로고
    • A revised classification of von Willebrand disease
    • Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis J.E.
    • J.E. Sadler Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis A revised classification of von Willebrand disease Thromb Haemost 71 1994 520 525
    • (1994) Thromb Haemost , vol.71 , pp. 520-525
    • Sadler1
  • 30
    • 0034852807 scopus 로고    scopus 로고
    • Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen
    • A.S. Ribba, I. Loisel, J.M. Lavergne, I. Juhan-Vague, B. Obert, G. Cherel Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen Thromb Haemost 86 2001 848 854
    • (2001) Thromb Haemost , vol.86 , pp. 848-854
    • Ribba, A.S.1    Loisel, I.2    Lavergne, J.M.3    Juhan-Vague, I.4    Obert, B.5    Cherel, G.6
  • 31
    • 79960971638 scopus 로고    scopus 로고
    • Isolated molecular defects of von Willebrand factor binding to collagen do not correlate with bleeding symptoms
    • R. Schneppenheim, T. Obser, E. Drewke, U. Gross-Wieltsch, F. Oyen, A.H. Sutor Isolated molecular defects of von Willebrand factor binding to collagen do not correlate with bleeding symptoms Blood 98 2001 165 (abstr)
    • (2001) Blood , vol.98 , pp. 165
    • Schneppenheim, R.1    Obser, T.2    Drewke, E.3    Gross-Wieltsch, U.4    Oyen, F.5    Sutor, A.H.6
  • 32
    • 0023852791 scopus 로고
    • Von Willebrand disease "vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers
    • P.M. Mannucci, R. Lombardi, G. Castaman, J.A. Dent, A. Lattuada, F. Rodeghiero von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers Blood 71 1988 65 70
    • (1988) Blood , vol.71 , pp. 65-70
    • Mannucci, P.M.1    Lombardi, R.2    Castaman, G.3    Dent, J.A.4    Lattuada, A.5    Rodeghiero, F.6
  • 34
    • 1842530336 scopus 로고    scopus 로고
    • An experimental model to study the in vivo survival of von Willebrand factor. Basic aspects and application to the R1205H mutation
    • P.J. Lenting, E. Westein, V. Terraube, A.S. Ribba, E.G. Huizinga, D. Meyer An experimental model to study the in vivo survival of von Willebrand factor. Basic aspects and application to the R1205H mutation J Biol Chem 279 2004 12102 12109
    • (2004) J Biol Chem , vol.279 , pp. 12102-12109
    • Lenting, P.J.1    Westein, E.2    Terraube, V.3    Ribba, A.S.4    Huizinga, E.G.5    Meyer, D.6
  • 35
    • 0002459799 scopus 로고
    • Classification of von Willebrand disease
    • M. Verstraete J. Vermylen R. Lijnen J. Arnout Leuven University Press Leuven, The Netherlands
    • Z.M. Rugggeri Classification of von Willebrand disease M. Verstraete J. Vermylen R. Lijnen J. Arnout Thrombosis and Haemostasis 1987 Leuven University Press Leuven, The Netherlands 419 445
    • (1987) Thrombosis and Haemostasis , pp. 419-445
    • Rugggeri, Z.M.1
  • 36
    • 0034926029 scopus 로고    scopus 로고
    • Congenital von Willebrand disease type I: Definition, phenotypes, clinical and laboratory assessment
    • F. Rodeghiero, G. Castaman Congenital von Willebrand disease type I Definition, phenotypes, clinical and laboratory assessment Baillieres Clin Haematol 14 2001 321 335
    • (2001) Baillieres Clin Haematol , vol.14 , pp. 321-335
    • Rodeghiero, F.1    Castaman, G.2
  • 37
    • 0037443406 scopus 로고    scopus 로고
    • Von Willebrand disease type 1: A diagnosis in search of a disease
    • J.E. Sadler Von Willebrand disease type 1 A diagnosis in search of a disease Blood 101 2003 2089 2093
    • (2003) Blood , vol.101 , pp. 2089-2093
    • Sadler, J.E.1
  • 38
    • 0024991887 scopus 로고
    • Platelet von Willebrand factor assay--Results using 2 methods for platelet lysis
    • F. Rodeghiero, G.C. Castaman, A. Tosetto, A. Lattuada, P.M. Mannucci Platelet von Willebrand factor assay--Results using 2 methods for platelet lysis Thromb Res 59 1990 259 267
    • (1990) Thromb Res , vol.59 , pp. 259-267
    • Rodeghiero, F.1    Castaman, G.C.2    Tosetto, A.3    Lattuada, A.4    Mannucci, P.M.5
  • 39
    • 0033983995 scopus 로고    scopus 로고
    • The half-life of infused factor VIII is shorter in hemophiliac patients with blood group O than in those with blood group a
    • A.J. Vlot, E.P. Mauser Bunschoten, A.G. Zarkova, E. Haan, C.L. Kruitwagen, J.J. Sixma The half-life of infused factor VIII is shorter in hemophiliac patients with blood group O than in those with blood group A Thromb Haemost 83 2000 65 69
    • (2000) Thromb Haemost , vol.83 , pp. 65-69
    • Vlot, A.J.1    Mauser Bunschoten, E.P.2    Zarkova, A.G.3    Haan, E.4    Kruitwagen, C.L.5    Sixma, J.J.6
  • 40
    • 0021250951 scopus 로고
    • A new variant of dominant type II von Willebrand's disease with aberrant multimeric pattern of factor VIII-related antigen (type IID)
    • S. Kinoshita, J. Harrison, J. Lazerson, C.F. Abildgaard A new variant of dominant type II von Willebrand's disease with aberrant multimeric pattern of factor VIII-related antigen (type IID) Blood 63 1984 1369 1371
    • (1984) Blood , vol.63 , pp. 1369-1371
    • Kinoshita, S.1    Harrison, J.2    Lazerson, J.3    Abildgaard, C.F.4
  • 41
    • 0020385308 scopus 로고
    • Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand's disease (type IIC)
    • Z.M. Ruggeri, I.M. Nilsson, R. Lombardi, L. Holmberg, T.S. Zimmerman Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand's disease (type IIC) J Clin Invest 70 1982 1124 1127
    • (1982) J Clin Invest , vol.70 , pp. 1124-1127
    • Ruggeri, Z.M.1    Nilsson, I.M.2    Lombardi, R.3    Holmberg, L.4    Zimmerman, T.S.5
  • 42
    • 0027314657 scopus 로고
    • New variant of von Willebrand disease type II with markedly increased levels of von Willebrand factor antigen and dominant mode of inheritance: Von Willebrand disease type IIC Miami
    • M. Ledford, I. Rabinowtz, J.E. Sadler New variant of von Willebrand disease type II with markedly increased levels of von Willebrand factor antigen and dominant mode of inheritance von Willebrand disease type IIC Miami Blood 82 1993 169 175
    • (1993) Blood , vol.82 , pp. 169-175
    • Ledford, M.1    Rabinowtz, I.2    Sadler, J.E.3
  • 43
    • 0022517442 scopus 로고
    • Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID and IIE)
    • T.S. Zimmerman, J.A. Dent, Z.M. Ruggeri, L.H. Nannini Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID and IIE) J Clin Invest 77 1986 947 951
    • (1986) J Clin Invest , vol.77 , pp. 947-951
    • Zimmerman, T.S.1    Dent, J.A.2    Ruggeri, Z.M.3    Nannini, L.H.4
  • 44
    • 0022539610 scopus 로고
    • A new von Willebrand variant (type I, New York): Increased ristocetin-induced palatelet aggregation and plasma von Willebrand factor containing the full range of multimers
    • H.J. Weiss, I.I. Sussman A new von Willebrand variant (type I, New York) Increased ristocetin-induced palatelet aggregation and plasma von Willebrand factor containing the full range of multimers Blood 68 1986 149 156
    • (1986) Blood , vol.68 , pp. 149-156
    • Weiss, H.J.1    Sussman, I.I.2
  • 45
    • 0022445253 scopus 로고
    • Von Willebrand's disease characterized by increased ristocetin sensitivity and the presence of all von Willebrand factor multimers in plasma
    • L. Holmberg, E. Berntorp, M. Donner, I.M. Nilsson von Willebrand's disease characterized by increased ristocetin sensitivity and the presence of all von Willebrand factor multimers in plasma Blood 68 1986 668 672
    • (1986) Blood , vol.68 , pp. 668-672
    • Holmberg, L.1    Berntorp, E.2    Donner, M.3    Nilsson, I.M.4
  • 47
    • 0026605718 scopus 로고
    • Von Willebrand disease masquerading as haemophilia a
    • C. Mazurier Von Willebrand disease masquerading as haemophilia A Thromb Haemost 67 1992 391 396
    • (1992) Thromb Haemost , vol.67 , pp. 391-396
    • Mazurier, C.1
  • 48
    • 0032535054 scopus 로고    scopus 로고
    • A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization
    • S. Jorieux, C. Gaucher, J. Goudemand, C. Mazurier A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization Blood 92 1998 4463 4670
    • (1998) Blood , vol.92 , pp. 4463-4670
    • Jorieux, S.1    Gaucher, C.2    Goudemand, J.3    Mazurier, C.4
  • 49
    • 0034658433 scopus 로고    scopus 로고
    • Conformational changes in the D′ domain of von Willebrand factor induced by CYS25 and CYS95 mutations lead to factor VIII binding defect and multimeric impairment
    • S. Jorieux, E. Fressinaud, J. Goudemand, C. Gaucher, D. Meyer, C. Mazurier Conformational changes in the D′ domain of von Willebrand factor induced by CYS25 and CYS95 mutations lead to factor VIII binding defect and multimeric impairment Blood 95 2000 3139 3145
    • (2000) Blood , vol.95 , pp. 3139-3145
    • Jorieux, S.1    Fressinaud, E.2    Goudemand, J.3    Gaucher, C.4    Meyer, D.5    Mazurier, C.6
  • 50
    • 0034653497 scopus 로고    scopus 로고
    • Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
    • S. Allen, A.M. Abuzenadah, J.L. Blagg, J. Hinks, I.M. Nesbitt, A.C. Goodeve Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor Blood 95 2000 2000 2007
    • (2000) Blood , vol.95 , pp. 2000-2007
    • Allen, S.1    Abuzenadah, A.M.2    Blagg, J.L.3    Hinks, J.4    Nesbitt, I.M.5    Goodeve, A.C.6
  • 51
    • 0027023678 scopus 로고
    • A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients
    • Z.P. Zhang, G. Falk, M. Blomback, N. Egberg, M. Anvret A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients Hum Mol Genet 1 1992 767 768
    • (1992) Hum Mol Genet , vol.1 , pp. 767-768
    • Zhang, Z.P.1    Falk, G.2    Blomback, M.3    Egberg, N.4    Anvret, M.5
  • 52
    • 0028027430 scopus 로고
    • Genetic heterogeneity of severe von Willebrand disease type III in the German population
    • R. Schneppenheim, S. Krey, F. Bergmann, D. Bock, U. Budde, M. Lange Genetic heterogeneity of severe von Willebrand disease type III in the German population Hum Genet 94 1994 640 652
    • (1994) Hum Genet , vol.94 , pp. 640-652
    • Schneppenheim, R.1    Krey, S.2    Bergmann, F.3    Bock, D.4    Budde, U.5    Lange, M.6
  • 53
    • 4243803851 scopus 로고    scopus 로고
    • Delta C in exon 18 of the von Willebrand factor gene is the most common mutation in patients with severe von Willebrand disease type 3 in Poland
    • H. Gazda, U. Budde, S. Krey, R. Rokicka-Milewska, R. Schneppenheim Delta C in exon 18 of the von Willebrand factor gene is the most common mutation in patients with severe von Willebrand disease type 3 in Poland Blood 90 1997 3132 (abstr)
    • (1997) Blood , vol.90 , pp. 3132
    • Gazda, H.1    Budde, U.2    Krey, S.3    Rokicka-Milewska, R.4    Schneppenheim, R.5
  • 54
    • 0018855952 scopus 로고
    • Variant von Willebrand's disease: Characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets
    • Z.M. Ruggeri, T.S. Zimmerman Variant von Willebrand's disease Characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets J Clin Invest 65 1980 1318 1325
    • (1980) J Clin Invest , vol.65 , pp. 1318-1325
    • Ruggeri, Z.M.1    Zimmerman, T.S.2
  • 55
    • 0025044664 scopus 로고
    • Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor
    • J.A. Dent, S.D. Berkowitz, J. Ware, C.K. Kasper, Z.M. Ruggeri Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor Proc Natl Acad Sci U S A 87 1990 6306 63010
    • (1990) Proc Natl Acad Sci U S a , vol.87 , pp. 6306-63010
    • Dent, J.A.1    Berkowitz, S.D.2    Ware, J.3    Kasper, C.K.4    Ruggeri, Z.M.5
  • 56
    • 0025732427 scopus 로고
    • Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences
    • A.M. Randi, I. Rabinowitz, D.J. Mancuso, P.M. Mannucci, J.E. Sadler Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences J Clin Invest 87 1991 1220 1226
    • (1991) J Clin Invest , vol.87 , pp. 1220-1226
    • Randi, A.M.1    Rabinowitz, I.2    Mancuso, D.J.3    Mannucci, P.M.4    Sadler, J.E.5
  • 57
    • 0029925856 scopus 로고    scopus 로고
    • Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis
    • M. Furlan, R. Robles, B. Lämmle Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis Blood 87 1996 4223 4234
    • (1996) Blood , vol.87 , pp. 4223-4234
    • Furlan, M.1    Robles, R.2    Lämmle, B.3
  • 58
    • 0029878123 scopus 로고    scopus 로고
    • Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion
    • H.M. Tsai Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion Blood 87 1996 4235 4244
    • (1996) Blood , vol.87 , pp. 4235-4244
    • Tsai, H.M.1
  • 59
    • 0035437166 scopus 로고    scopus 로고
    • Aberrant dimerization of von Willebrand factor as the result of mutations in the carboxy-terminal region: Identification of 3 mutations in members of 3 different families with type 2A (phenotype IID) von Willebrand disease
    • M.S. Enayat, A.M. Guilliatt, G.K. Surdhar, P.V. Jenkins, K.J. Pasi, C.H. Toh Aberrant dimerization of von Willebrand factor as the result of mutations in the carboxy-terminal region Identification of 3 mutations in members of 3 different families with type 2A (phenotype IID) von Willebrand disease Blood 98 2001 674 680
    • (2001) Blood , vol.98 , pp. 674-680
    • Enayat, M.S.1    Guilliatt, A.M.2    Surdhar, G.K.3    Jenkins, P.V.4    Pasi, K.J.5    Toh, C.H.6
  • 60
    • 0027755296 scopus 로고
    • Requirement for both D domains of the propolypeptide in von Willebrand factor multimerization and storage
    • A.M. Journet, S. Saffaripour, D.D. Wagner Requirement for both D domains of the propolypeptide in von Willebrand factor multimerization and storage Thromb Haemost 70 1993 1053 1057
    • (1993) Thromb Haemost , vol.70 , pp. 1053-1057
    • Journet, A.M.1    Saffaripour, S.2    Wagner, D.D.3
  • 61
    • 0029817840 scopus 로고    scopus 로고
    • Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor
    • J.C. Eikenboom, T. Matsushita, P.H. Reitsma, E.A. Tuley, G. Castaman, E. Briet Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor Blood 88 1996 2433 2441
    • (1996) Blood , vol.88 , pp. 2433-2441
    • Eikenboom, J.C.1    Matsushita, T.2    Reitsma, P.H.3    Tuley, E.A.4    Castaman, G.5    Briet, E.6
  • 62
    • 0036715153 scopus 로고    scopus 로고
    • Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X)
    • S. Lethagen, C. Isaksson, C. Schaedel, L. Holmberg Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X) Thromb Haemost 88 2002 421 426
    • (2002) Thromb Haemost , vol.88 , pp. 421-426
    • Lethagen, S.1    Isaksson, C.2    Schaedel, C.3    Holmberg, L.4
  • 65
    • 0027258360 scopus 로고
    • Von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure
    • L. Holmberg, J.A. Dent, R. Schneppenheim, U. Budde, J. Ware, Z.M. Ruggeri von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure J Clin Invest 91 1993 2169 2177
    • (1993) J Clin Invest , vol.91 , pp. 2169-2177
    • Holmberg, L.1    Dent, J.A.2    Schneppenheim, R.3    Budde, U.4    Ware, J.5    Ruggeri, Z.M.6
  • 67
    • 0036219685 scopus 로고    scopus 로고
    • Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor
    • INSERM Network on Molecular Abnormalities in von Willebrand Disease C.
    • L. Hilbert, E. Fressinaud, A.S. Ribba, D. Meyer, C. Mazurier INSERM Network on Molecular Abnormalities in von Willebrand Disease Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor Thromb Haemost 87 2002 635 640
    • (2002) Thromb Haemost , vol.87 , pp. 635-640
    • Hilbert, L.1    Fressinaud, E.2    Ribba, A.S.3    Meyer, D.4    Mazurier5
  • 68
    • 0035133077 scopus 로고    scopus 로고
    • Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization
    • A. Casonato, E. Pontara, F. Sartorello, A. Bertomoro, C. Durante, A. Girolami Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization J Lab Clin Med 137 2001 70 76
    • (2001) J Lab Clin Med , vol.137 , pp. 70-76
    • Casonato, A.1    Pontara, E.2    Sartorello, F.3    Bertomoro, A.4    Durante, C.5    Girolami, A.6
  • 69
    • 0032032301 scopus 로고    scopus 로고
    • 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
    • C.A. Hillery, D.J. Mancuso, J.E. Sadler, J.W. Ponder, M.A. Jozwiak, P.A. Christopherson 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 1998 1572 1581
    • (1998) Blood , vol.91 , pp. 1572-1581
    • Hillery, C.A.1    Mancuso, D.J.2    Sadler, J.E.3    Ponder, J.W.4    Jozwiak, M.A.5    Christopherson, P.A.6
  • 71
    • 0037158606 scopus 로고    scopus 로고
    • Thrombotic microangiopathies
    • J.L. Moake Thrombotic microangiopathies N Engl J Med 347 2002 589 600
    • (2002) N Engl J Med , vol.347 , pp. 589-600
    • Moake, J.L.1
  • 72
    • 3242676770 scopus 로고    scopus 로고
    • Binding of platelet glycoprotein Ib (α) to von Willebrand factor domain A1 stimulates the cleavage of the adjacent domain A2 by ADAMTS13
    • K. Nishio, P.J. Anderson, X.L. Zheng, J.E. Sadler Binding of platelet glycoprotein Ib (α) to von Willebrand factor domain A1 stimulates the cleavage of the adjacent domain A2 by ADAMTS13 Proc Natl Acad Sci U S A 101 2004 10578 10583
    • (2004) Proc Natl Acad Sci U S a , vol.101 , pp. 10578-10583
    • Nishio, K.1    Anderson, P.J.2    Zheng, X.L.3    Sadler, J.E.4
  • 73
    • 0034532364 scopus 로고    scopus 로고
    • Identifications of type 2 von Willebrand disease in previously diagnosed type 1 patients: A reappraisal using phenotypes, genotypes and molecular modelling
    • I.C. Nitu-Whalley, A. Ridell, C.A. Lee, K.J. Pasi, D. Owens, M.S. Enayat Identifications of type 2 von Willebrand disease in previously diagnosed type 1 patients A reappraisal using phenotypes, genotypes and molecular modelling Thromb Haemost 84 2000 998 1004
    • (2000) Thromb Haemost , vol.84 , pp. 998-1004
    • Nitu-Whalley, I.C.1    Ridell, A.2    Lee, C.A.3    Pasi, K.J.4    Owens, D.5    Enayat, M.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.