1) Fujimura Y, Titani K. Structure and function of von Willebrand factor. In: Bloom AL, Forbes CD, Thomas DP, et al. editors. Haemostasis and Thrombosis. 3rd ed. London: Churchill-Livingstone. 1994. p. 379-95
|
|
|
2) Vehar GA, Keyt B, Eaton D, et al. Structure of human factor VIII. Nature. 1984; 312: 337-42
|
|
|
3) Sadler JE, Shelton-Inloes BB, Sorace JM, et al. Cloning and characterization of two cDNAs coding for human von Willebrand factor. Proc Natl Acad Sci U S A. 1985; 82: 6394-8
|
|
|
4) Sadler JE. Biochemistry and genetics of von Willebrand factor. Annu Rev Biochem. 1998; 67: 395-424
|
|
|
5) von Willebrand EA. Hereditar pseudohemofilli. Finska Lakaresallskapets Handiligar. 1926; 67: 7-112
|
|
|
6) Sadler JE. A revised classification of von Willebrand disease. For the subcommittee on von Willebrand factor of the scientific and standarization committee of the international society on thrombosis and haemostasis. Thromb Haemost. 1994; 71: 520-5
|
|
|
7) Souto JC, Almasy L, Soria JM, et al. Genome-wide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project. Thromb Haemost. 2003; 89: 468-74
|
|
|
8) Eikenboom J, van Marion V, Putter H, et al. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost. 2006; 4: 774-82
|
|
|
9) James PD, Paterson AD, Notley C, et al. Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study. J Thromb Haemost. 2006; 4: 783-92
|
|
|
10) Sadler JE, Budde U, Eikenboom JCJ, et al. Update on the pathology and classification of von Willebrand disease: a report of the subcommittee on von Willebrand factor. J Thromb Haemost. 2006; 4: 2103-14
|
|
|
11) Dent JA, Berkowitz SD, Ware J, et al. 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. 1990; 87: 6306-10
|
|
|
12) Fujikawa K, Suzuki H, McMullen B, et al. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. Blood. 2001; 98: 1662-6
|
|
|
13) Gerritsen HE, Robles R, Lammle B, et al. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood. 2001; 98: 1654-61
|
|
|
14) Levy GG, Nichols WC, Lian EC, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001; 413: 488-94
|
|
|
15) Soejima K, Mimura N, Hirashima M, et al. A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease? J Biochem (Tokyo). 2001; 130: 475-80
|
|
|
16) Zheng XL, Chung D, Takayama TK, et al. Structure of von Willebrand Factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem. 2001; 276: 41059-63
|
|
|
17) Xie L, Chesterman CN, Hogg PJ. Control of von Willebrand factor multimer size by thrombospondine-1. J Exp Med. 2001; 12: 1341-9
|
|
|
18) Lenting PJ, Westwib E, Terraube V, et al. An experimental model to study the in vivo survival of von Willebrand factor. Basic aspects and application to the R1205H mutations. J Biol Chem. 2004; 279: 12102-9
|
|
|
19) Titani K, Kumar S, Takio K, et al. Amino acid sequence of human von Willebrand factor. Biochemistry. 1986; 25: 3171-84
|
|
|
20) Matsui T, Fujimura Y, Nishida S, et al. Human plasma α2-macroglobulin and vonWillebrand factor possess covalently linked ABO(H) blood group antigens in subjects with corresponding ABO phenotype. Blood. 1993; 82: 663-8
|
|
|
21) Matsui T, Shimoyama T, Matsumoto M, et al. ABO blood group antigens on human plasma von Willebrand factor after ABO-mismatched bone marrow transplantation. Blood. 1999; 94: 2895-900
|
|
|
22) Gill JC, Endres-Brooks J, Bauer PJ, et al. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood. 1987; 69: 1691-5
|
|
|
23) Shima M, Fujimura Y, Nishiyama T, et al. ABO blood group genotypes and plasma von Willebrand factor in normal individuals. Vox Sang. 1995; 68: 236-40
|
|
|
24) Kroll MH, Hellums JD, McIntire LV, et al. Platelets and share stress. Blood. 1996; 88: 1515-41
|
|
|
25) Tsuji S, Sugimoto M, Miyata S, et al. Real-time analysis of mural thrombus formation in various platelet aggregation disorders: Distinct shear-dependent roles of platelet receptors and adhesive proteins under flow. Blood. 1999; 94: 968-75
|
|
|
26) Savage B, Saldivar E, Ruggeri ZM. Initiation of platelet adhesion by arrest onto fibrinogen or translocation on von Willebrand factor. Cell. 1996; 84: 289-97
|
|
|
27) Nasbitt WS, Kulkarni S, Giuliano S, et al. Distinct glycoprotein 1b/V/IX and integrin αIIbβ3-dependent calcium signals coopereratively regulate platelet adhesion under flow. J Biol Chem. 2002; 277: 2965-72
|
|
|
28) Kulkarni S, Dopheide SM, Yap CL, et al. A revised model of platelet aggregation. J Clin Invest. 2000; 75: 19-24
|
|
|
29) Huizinga EG, Tsuji S, Romijin RA, et al. Structural of glycoprotein 1bα and its complex with von Willebrand factor A1 domain. Science. 2002; 297: 1176-9
|
|
|
30) 血液凝固異常症全国調査委員会. 血液凝固異常症全国調査. (財)エイズ予防財団. 2003. p. 1-29
|
|
|
31) Zhang ZP, Blombaeck M, Nyman D, Anvret M. Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland islands. Proc Natl Acad Sci U S A. 1993; 90: 7937-40
|
|
|
32) Alperin JB. Estrogen and surgery in women with von Willebrand disease. Am J Med. 1982; 73: 367-71
|
|
|
33) Eikenboom JC, Matsushita T, Reitsma PH, et al. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood. 1996; 88: 2433-41
|
|
|
34) Tjernberg P, Vos HL, Castaman G, et al. Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues. J Thromb Haemost. 2004; 2: 257-65
|
|
|
35) Lethagen S, Isaksson C, Schaedel C, et al. 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. 2002; 88: 421-6
|
|
|
36) van Schooten CJ, Tjernberg P, Westein E, et al. Cytein-mutations in von Willebrand factor associated with increased clearance. J Thromb Haemost. 2005; 3: 2228-37
|
|
|
37) Brown SA, Eldridge A, Collins PW, et al. Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: is it a potential pathogenic process? J Thromb Haemost. 2003; 1: 1714-17
|
|
|
38) Mannucci PM, Lombardi R, Castaman G, et al. Willebrand disease “Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers. Blood. 1988; 71: 65-70
|
|
|
39) Schneppenheim R, Federici AB, Budde U, et al. Von Willebarnd disease Type 2M “Vicenza" in Italian and German patients: identification of first candidate mutation (G3864A; R1205H) in 8 families. Thromb Haemost. 2000; 82: 136-40
|
|
|
40) Casonato A, Pontara E, Sartorello F, et al. Willebrand factor survival in type Vicenza von Willebrand disease. Blood. 2002; 99: 180-4
|
|
|
41) Bowen DJ, Collins PW. An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood. 2004; 103: 941-7
|
|
|
42) Lanke E, Johansson AM, Hallden C, et al. Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype. J Thromb Haemost. 2005; 3: 2656-63
|
|
|
43) Ruggeri ZM, Nilsson IM, Lombardi R, et al. Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand's disease (type IIC). J Clin Invest. 1982; 70: 1124-7
|
|
|
44) Kinoshita S, Harrison J, Lazerson, et al. A new variant of dominant type II von Willebrand's disease with aberrant multimeric pattern of factor VIII-related antigen (type IID). Blood. 1984; 63: 1369-71
|
|
|
45) Zimmerman TS, Dent JA, Ruggeri ZM, et al. Cleavage is present in normal individual, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (type IIC, type IID, and type IIE). J Clin Invest. 1986; 77: 947-51
|
|
|
46) Ruggeri ZM, Pareti FI, Mannucci PM, et al. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand disease. N Engl J Med. 1980; 302: 1047-51
|
|
|
47) Miller JL, Cunningham D, Lyle VA, et al. Mutation in the gene encoding the α chain of the platelet glycoprotein 1b in the platelet-type von Willebrand disease. Proc Natl Acad Sci U S A. 1991; 88: 4761-5
|
|
|
48) Nishino M, Girma JP, Rothschild C, et al. New variant of von Willebrand disease with defective binding to factor VIII. Blood. 1989; 74: 1591-99
|
|
|
49) Eikenboom JC, Reitsma PH, Peelinck KMJ, et al. Recessive inheritance of von Willebrand's disease type 1. Lancet. 1993; 341: 982-6
|
|
|
50) Schneppenheim R, Krey S, Bergmann F, et al. Genetic heterogeneity of severe von Wilebrand disease type III in the German population. Hum Genet. 1994; 94: 640-52
|
|
|