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Volumn 24, Issue 1, 2004, Pages 37-43

Molecular genetics of von Willebrand disease;Molekulare genetik des von-Willebrand-Syndroms

Author keywords

Genetics; VWD; VWF

Indexed keywords

BLOOD CLOTTING FACTOR 8; GENE PRODUCT; VON WILLEBRAND FACTOR;

EID: 1242286001     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1619604     Document Type: Review
Times cited : (4)

References (41)
  • 1
    • 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
    • Allen S, Abuzenadah AM, Blagg JL et al. Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. Blood 2000; 95: 2000-7.
    • (2000) Blood , vol.95 , pp. 2000-2007
    • Allen, S.1    Abuzenadah, A.M.2    Blagg, J.L.3
  • 2
    • 0034810825 scopus 로고    scopus 로고
    • Endoplasmic reticulum retention and prolonged association of a von Willebrand's disease-causing von Willebrand factor variant with ERp57 and calnexin
    • Allen S, Goodeve AC, Peake IR et al. Endoplasmic reticulum retention and prolonged association of a von Willebrand's disease-causing von Willebrand factor variant with ERp57 and calnexin. Biochem Biophys Res Commun 2001; 280: 448-53.
    • (2001) Biochem Biophys Res Commun , vol.280 , pp. 448-453
    • Allen, S.1    Goodeve, A.C.2    Peake, I.R.3
  • 3
    • 0033782679 scopus 로고    scopus 로고
    • Molecular characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease
    • Baronciani L, Cozzi G, Canciani MT et al. Molecular characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease. Thromb Haemost 2000; 84: 536-40.
    • (2000) Thromb Haemost , vol.84 , pp. 536-540
    • Baronciani, L.1    Cozzi, G.2    Canciani, M.T.3
  • 4
    • 0037624499 scopus 로고    scopus 로고
    • Molecular defects in type 3 von Willebrand disease: Updated results from 40 multiethnic patients
    • Baronciani L, Cozzi G, Canciani MT et al. Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. Blood Cells Mol Dis 2003; 30: 264-70.
    • (2003) Blood Cells Mol Dis , vol.30 , pp. 264-270
    • Baronciani, L.1    Cozzi, G.2    Canciani, M.T.3
  • 5
    • 0025044664 scopus 로고
    • Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor
    • 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 USA 1990; 87: 6306-10.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 6306-6310
    • Dent, J.A.1    Berkowitz, S.D.2    Ware, J.3
  • 6
    • 0029817840 scopus 로고    scopus 로고
    • Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor
    • 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.
    • (1996) Blood , vol.88 , pp. 2433-2441
    • Eikenboom, J.C.1    Matsushita, T.2    Reitsma, P.H.3
  • 7
    • 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
    • Enayat MS, Guilliatt AM, Surdhar GK et al. 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 2001; 98: 674-80.
    • (2001) Blood , vol.98 , pp. 674-680
    • Enayat, M.S.1    Guilliatt, A.M.2    Surdhar, G.K.3
  • 8
    • 0023217139 scopus 로고
    • A major F VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor
    • Foster PA, Fulcher CA, Marti T et al. A major F VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor. J Biol Chem 1987; 262: 8443-6.
    • (1987) J Biol Chem , vol.262 , pp. 8443-8446
    • Foster, P.A.1    Fulcher, C.A.2    Marti, T.3
  • 9
    • 0023248639 scopus 로고
    • A heparin-binding domain of human von Willebrand factor. Characterization and localization to a tryptic fragment extending from amino acid residue Val-449 to Lys-728
    • Fujimura Y, Titani K, Holland LZ et al. A heparin-binding domain of human von Willebrand factor. Characterization and localization to a tryptic fragment extending from amino acid residue Val-449 to Lys-728. J Biol Chem 1987; 262: 1734-9.
    • (1987) J Biol Chem , vol.262 , pp. 1734-1739
    • Fujimura, Y.1    Titani, K.2    Holland, L.Z.3
  • 10
    • 0028040776 scopus 로고
    • Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease
    • Gaucher C, Dieval J, Mazurier C. Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease. Blood 1994; 84: 1024-30.
    • (1994) Blood , vol.84 , pp. 1024-1030
    • Gaucher, C.1    Dieval, J.2    Mazurier, C.3
  • 11
    • 0025817840 scopus 로고
    • The "Normandy" variant of von Willebrand disease: Characterization of a point mutation in the von Willebrand factor gene
    • Gaucher C, Jorieux S, Mercier B et al. The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene. Blood 1991; 77: 1937-41.
    • (1991) Blood , vol.77 , pp. 1937-1941
    • Gaucher, C.1    Jorieux, S.2    Mercier, B.3
  • 12
    • 0024669945 scopus 로고
    • Molecular basis of human von Willebrand disease: Analysis of platelet von Willebrand factor mRNA
    • Ginsburg D, Konkle BA, Gill JC et al. Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA. Proc Natl Acad Sci USA 1989; 86: 3723-7.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 3723-3727
    • Ginsburg, D.1    Konkle, B.A.2    Gill, J.C.3
  • 13
    • 0037328171 scopus 로고    scopus 로고
    • Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity
    • INSERM Network on Molecular Abnormalities in von Willebrand Disease
    • Hilbert L, Jorieux S, Proulle V et al. INSERM Network on Molecular Abnormalities in von Willebrand Disease. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity. Br J Haematol 2003; 120: 627-32.
    • (2003) Br J Haematol , vol.120 , pp. 627-632
    • Hilbert, L.1    Jorieux, S.2    Proulle, V.3
  • 14
    • 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
    • Hillery CA, Mancuso DJ, Evan Sadler J et al. 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 1998; 91: 1572-81.
    • (1998) Blood , vol.91 , pp. 1572-1581
    • Hillery, C.A.1    Mancuso, D.J.2    Evan Sadler, J.3
  • 15
    • 0034658433 scopus 로고    scopus 로고
    • Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment
    • Jorieux S, Fressinaud E, Goudemand J et al. Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment. Blood 2000; 95: 3139-45.
    • (2000) Blood , vol.95 , pp. 3139-3145
    • Jorieux, S.1    Fressinaud, E.2    Goudemand, J.3
  • 16
    • 0023547037 scopus 로고
    • Localization of a collagen-interactive domain of human von Willebrand factor between amino acid residues Gly 911 and Glu 1,365
    • Kalafatis M, Takahashi Y, Girma JP et al. Localization of a collagen-interactive domain of human von Willebrand factor between amino acid residues Gly 911 and Glu 1,365. Blood 1987; 70: 1577-83.
    • (1987) Blood , vol.70 , pp. 1577-1583
    • Kalafatis, M.1    Takahashi, Y.2    Girma, J.P.3
  • 17
    • 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
    • Ledford MR, Rabinowitz I, Sadler JE et al. 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 1993; 82: 169-75.
    • (1993) Blood , vol.82 , pp. 169-175
    • Ledford, M.R.1    Rabinowitz, I.2    Sadler, J.E.3
  • 18
    • 0026630044 scopus 로고
    • Impaired intracellular transport produced by a subset of type-IIA von Willebrand disease mutations
    • Lyons SE, Bruck ME, Bowie EJW et al. Impaired intracellular transport produced by a subset of type-IIA von Willebrand disease mutations. J Biol Chem 1992; 267: 4424-30.
    • (1992) J Biol Chem , vol.267 , pp. 4424-4430
    • Lyons, S.E.1    Bruck, M.E.2    Bowie, E.J.W.3
  • 19
    • 0026011654 scopus 로고
    • Human von Willebrand factor gene and pseudogene: Structural analysis and differentiation by polymerase chain reaction
    • Mancuso DJ, Tuley EA, Westfield LA et al. Human von Willebrand factor gene and pseudogene: Structural analysis and differentiation by polymerase chain reaction. Biochemistry 1991; 30: 253-69.
    • (1991) Biochemistry , vol.30 , pp. 253-269
    • Mancuso, D.J.1    Tuley, E.A.2    Westfield, L.A.3
  • 21
    • 0026561993 scopus 로고
    • Vicinal cysteines in the prosequence play a role in von Willebrand factor multimer assembly
    • Mayadas TN, Wagner DD. Vicinal cysteines in the prosequence play a role in von Willebrand factor multimer assembly. Proc Natl Acad Sci USA 1992; 89: 3531-5.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 3531-3535
    • Mayadas, T.N.1    Wagner, D.D.2
  • 22
    • 0030836531 scopus 로고    scopus 로고
    • Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: From the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease
    • Meyer D, Fressinaud E, Gaucher C et al. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease. Thromb Haemost 1997; 78: 451-6.
    • (1997) Thromb Haemost , vol.78 , pp. 451-456
    • Meyer, D.1    Fressinaud, E.2    Gaucher, C.3
  • 23
    • 0023990346 scopus 로고
    • Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease
    • Ngo KY, Glotz VT, Koziol JA et al. Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. Proc Natl Acad Sci USA 1988; 85: 2753-7.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 2753-2757
    • Ngo, K.Y.1    Glotz, V.T.2    Koziol, J.A.3
  • 24
    • 0024425034 scopus 로고
    • New variant of von Willebrand disease with defective binding to factor VIII
    • Nishino M, Girma JP, Rothschild C et al. New variant of von Willebrand disease with defective binding to factor VIII. Blood 1989; 74: 1591-9.
    • (1989) Blood , vol.74 , pp. 1591-1599
    • Nishino, M.1    Girma, J.P.2    Rothschild, C.3
  • 25
    • 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
    • Ribba AS, Loisel I, Lavergne JM et al. 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 2001; 86: 848-54.
    • (2001) Thromb Haemost , vol.86 , pp. 848-854
    • Ribba, A.S.1    Loisel, I.2    Lavergne, J.M.3
  • 26
    • 0023850178 scopus 로고
    • Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
    • Saiki RK, Gelfand DH, Stoffel S et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487-91.
    • (1988) Science , vol.239 , pp. 487-491
    • Saiki, R.K.1    Gelfand, D.H.2    Stoffel, S.3
  • 27
    • 0022445644 scopus 로고
    • Mediation of platelet adhesion to fibrillar collagen in flowing blood by a proteolytic fragment of human von Willebrand factor
    • Sakariassen KS, Fressinaud E, Girma JP et al. Mediation of platelet adhesion to fibrillar collagen in flowing blood by a proteolytic fragment of human von Willebrand factor. Blood 1986; 67: 1515-8.
    • (1986) Blood , vol.67 , pp. 1515-1518
    • Sakariassen, K.S.1    Fressinaud, E.2    Girma, J.P.3
  • 29
    • 0029916821 scopus 로고    scopus 로고
    • Defective dimerization of von Willebrand factor subunits due to a Cys→Arg mutation in type IID von Willebrand disease
    • Schneppenheim R, Brassard J, Krey S et al. Defective dimerization of von Willebrand factor subunits due to a Cys→Arg mutation in type IID von Willebrand disease. Proc Natl Acad Sci USA 1996; 938: 3581-6.
    • (1996) Proc Natl Acad Sci USA , vol.938 , pp. 3581-3586
    • Schneppenheim, R.1    Brassard, J.2    Krey, S.3
  • 30
    • 0029842964 scopus 로고    scopus 로고
    • Results of a screening for von Willebrand disease type 2N patients with suspected haemophilia A or van Willebrand disease type 1
    • Schneppenheim R, Budde U, Krey S et al. Results of a screening for von Willebrand disease type 2N patients with suspected haemophilia A or van Willebrand disease type 1. Thromb Haemost 1996; 76: 598-602.
    • (1996) Thromb Haemost , vol.76 , pp. 598-602
    • Schneppenheim, R.1    Budde, U.2    Krey, S.3
  • 31
    • 0035312967 scopus 로고    scopus 로고
    • Expression and characterization of von Willebrand dimerization defects in different types of von Willebrand disease
    • Schneppenheim R, Budde U, Obser T et al. Expression and characterization of von Willebrand dimerization defects in different types of von Willebrand disease. Blood 2001; 97: 2059-66.
    • (2001) Blood , vol.97 , pp. 2059-2066
    • Schneppenheim, R.1    Budde, U.2    Obser, T.3
  • 32
    • 1242293598 scopus 로고    scopus 로고
    • A single base deletion (ΔC in exon 18 of the VWF gene) is the most common molecular defect in von Willebrand disease type 3 in countries surrounding the Baltic Sea
    • Herrmann FH (ed). Lengerich: Pabst Science Publishers
    • Schneppenheim R, Gazda H, Budde U et al. A single base deletion (ΔC in exon 18 of the VWF gene) is the most common molecular defect in von Willebrand disease type 3 in countries surrounding the Baltic Sea. In: Herrmann FH (ed). Molekulare (DNA) Diagnostik hereditärer Hämostasedefekte. Lengerich: Pabst Science Publishers 1999; 91-6.
    • (1999) Molekulare (DNA) Diagnostik Hereditärer Hämostasedefekte , pp. 91-96
    • Schneppenheim, R.1    Gazda, H.2    Budde, U.3
  • 33
    • 0028027430 scopus 로고
    • Genetic heterogeneity of severe von Willebrand disease type III in the German population
    • Schneppenheim R, Krey S, Bergmann F et al. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Human Genetics 1994; 94: 640-52.
    • (1994) Human Genetics , vol.94 , pp. 640-652
    • Schneppenheim, R.1    Krey, S.2    Bergmann, F.3
  • 34
    • 79960971638 scopus 로고    scopus 로고
    • Isolated molecular defects of von Willebrand factor binding to collagen do not correlate with bleeding symptoms
    • Schneppenheim R, Obser T, Drewke E et al. Isolated molecular defects of von Willebrand factor binding to collagen do not correlate with bleeding symptoms. Blood 2001; 98 (suppl 1): 165.
    • (2001) Blood , vol.98 , Issue.SUPPL. 1 , pp. 165
    • Schneppenheim, R.1    Obser, T.2    Drewke, E.3
  • 35
    • 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
    • Schneppenheim R, Obser T, Schneppenheim S et al. Von Willebrand disease type 2A with aberrant structure of individual oligomers is caused by mutations clustering in the von Willebrand factor D3 domain. Blood 2000; 96 (suppl 1): 2429.
    • (2000) Blood , vol.96 , Issue.SUPPL. 1 , pp. 2429
    • Schneppenheim, R.1    Obser, T.2    Schneppenheim, S.3
  • 36
    • 0029027280 scopus 로고
    • Identification of a candidate missense mutation in a family with von Willebrand disease type IIC
    • Schneppenheim R, Thomas KB, Krey S et al. Identification of a candidate missense mutation in a family with von Willebrand disease type IIC. Hum Genet 1995; 95: 681-6.
    • (1995) Hum Genet , vol.95 , pp. 681-686
    • Schneppenheim, R.1    Thomas, K.B.2    Krey, S.3
  • 37
    • 0023237159 scopus 로고
    • Gene deletions correlate with the development of alloantibodies in von Willebrand disease
    • Shelton-Inloes BB, Chehab FF, Mannucci PM et al. Gene deletions correlate with the development of alloantibodies in von Willebrand disease. J Clin Invest 1987; 79: 1459-65.
    • (1987) J Clin Invest , vol.79 , pp. 1459-1465
    • Shelton-Inloes, B.B.1    Chehab, F.F.2    Mannucci, P.M.3
  • 38
    • 0016700864 scopus 로고
    • Detection of specific sequences among DNA fragments separated by gel electrophoresis
    • Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975; 98: 503-17.
    • (1975) J Mol Biol , vol.98 , pp. 503-517
    • Southern, E.M.1
  • 39
    • 0025727370 scopus 로고
    • Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor
    • Ware J, Dent JA, Azuma H et al. Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor. Proc Natl Acad Sci USA 1991; 887: 2946-50.
    • (1991) Proc Natl Acad Sci USA , vol.887 , pp. 2946-2950
    • Ware, J.1    Dent, J.A.2    Azuma, H.3
  • 40
    • 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
    • Zhang ZP, Falk G, Blomback M et al. 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 1992; 1: 767-8.
    • (1992) Hum Mol Genet , vol.1 , pp. 767-768
    • Zhang, Z.P.1    Falk, G.2    Blomback, M.3
  • 41
    • 0026640029 scopus 로고
    • Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I
    • Zhang ZP, Lindstedt M, Falk G et al. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. Am J Hum Genet 1992; 51: 850-8.
    • (1992) Am J Hum Genet , vol.51 , pp. 850-858
    • Zhang, Z.P.1    Lindstedt, M.2    Falk, G.3


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