메뉴 건너뛰기




Volumn 82, Issue 2, 1999, Pages 585-591

Molecular genetics of von Willebrand disease

Author keywords

[No Author keywords available]

Indexed keywords

VON WILLEBRAND FACTOR;

EID: 0032725346     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1615884     Document Type: Conference Paper
Times cited : (41)

References (47)
  • 2
    • 0001404693 scopus 로고    scopus 로고
    • Hemophilia and other inherited disorders of hemostasis and thrombosis
    • Rimoin DL, Connor JM, Pyeritz RE, Emery AEH., eds. New York: Churchill Livingstone
    • Ginsburg D. Hemophilia and other inherited disorders of hemostasis and thrombosis. In: Rimoin DL, Connor JM, Pyeritz RE, Emery AEH., eds. Emery and Rimoin's Principles and Practice of Medical Genetics. New York: Churchill Livingstone; 1997:1651-1676.
    • (1997) Emery and Rimoin's Principles and Practice of Medical Genetics , pp. 1651-1676
    • Ginsburg, D.1
  • 6
    • 0032532336 scopus 로고    scopus 로고
    • Tissue distribution and regulation of murine Von Willebrand factor gene expression in vivo
    • Yamamoto K, de Waard V, Fearns C, Loskutoff DJ. Tissue distribution and regulation of murine von Willebrand factor gene expression in vivo. Blood. 1998;92:2791-2801.
    • (1998) Blood , vol.92 , pp. 2791-2801
    • Yamamoto, K.1    De Waard, V.2    Fearns, C.3    Loskutoff, D.J.4
  • 7
    • 0000954273 scopus 로고    scopus 로고
    • Von Willebrand factor
    • Loscalzo J, Schafer AI., eds. Boston: Blackwell Scientific Publications
    • Ruggeri ZM, Ware J, Ginsburg D. von Willebrand factor. In: Loscalzo J, Schafer AI., eds. Thrombosis and Hemorrhage. Boston: Blackwell Scientific Publications; 1998:337-364.
    • (1998) Thrombosis and Hemorrhage , pp. 337-364
    • Ruggeri, Z.M.1    Ware, J.2    Ginsburg, D.3
  • 8
    • 0028201807 scopus 로고
    • A revised classification of Von Willebrand disease
    • Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost. 1994;71:520-525
    • (1994) Thromb Haemost , vol.71 , pp. 520-525
    • Sadler, J.E.1
  • 9
    • 0026630044 scopus 로고
    • Impaired intracellular transport produced by a subset of type IIA Von willebrand disease mutations
    • Lyons SE, Bruck ME, Bowie EJW, Ginsburg D. Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations. J Biol Chem. 1992;267:4424-4430.
    • (1992) J Biol Chem , vol.267 , pp. 4424-4430
    • Lyons, S.E.1    Bruck, M.E.2    Bowie, E.J.W.3    Ginsburg, D.4
  • 10
    • 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, Kasper CK, Ruggeri ZM. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci USA. 1990;87:6306-6310.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 6306-6310
    • Dent, J.A.1    Berkowitz, S.D.2    Ware, J.3    Kasper, C.K.4    Ruggeri, Z.M.5
  • 11
    • 0030980679 scopus 로고    scopus 로고
    • Proteolytic cleavage of recombinant type 2A Von Willebrand factor mutants R834W and R834Q: Inhibition by doxycycline and by monoclonal antibody VP-1
    • Tsai H-M, Sussman II, Ginsburg D, Lankhof H, Sixma JJ, Nagel RL. Proteolytic cleavage of recombinant type 2A von Willebrand factor mutants R834W and R834Q: Inhibition by doxycycline and by monoclonal antibody VP-1. Blood. 1997;89:1954-1962.
    • (1997) Blood , vol.89 , pp. 1954-1962
    • Tsai, H.-M.1    Sussman, I.I.2    Ginsburg, D.3    Lankhof, H.4    Sixma, J.J.5    Nagel, R.L.6
  • 12
    • 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
    • Furlan M, Robles R, Lämmle B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood. 1996;87:4223-4234.
    • (1996) Blood , vol.87 , pp. 4223-4234
    • Furlan, M.1    Robles, R.2    Lämmle, B.3
  • 13
    • 0027500241 scopus 로고
    • Von Willebrand disease: A database of point mutations, insertions, and deletions
    • Ginsburg D, Sadler JE. von Willebrand Disease: A database of point mutations, insertions, and deletions. Thromb Haemost. 1993;69:177-184.
    • (1993) Thromb Haemost , vol.69 , pp. 177-184
    • Ginsburg, D.1    Sadler, J.E.2
  • 14
    • 0027258360 scopus 로고
    • Von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure
    • Holmberg L, Dent JA, Schneppenheim R, Budde U, Ware J, Ruggeri ZM. von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. J Clin Invest. 1993;91:2169-2177.
    • (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
  • 15
    • 0026605718 scopus 로고
    • Von Willebrand disease masquerading as haemophilia A
    • Mazurier C. von Willebrand disease masquerading as haemophilia A. Thromb Haemost. 1992;67:391-396.
    • (1992) Thromb Haemost , vol.67 , pp. 391-396
    • Mazurier, C.1
  • 16
    • 0023217139 scopus 로고
    • A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of Von Willebrand factor
    • Foster PA, Fulcher CA, Marti T, Titani K, Zimmerman TS. A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor. J Biol Chem. 1987;262:8443-8446.
    • (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
  • 17
    • 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
    • Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenburg J, Schwaab R. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von 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    Drewke, E.4    Bergmann, F.5    Lechler, E.6    Oldenburg, J.7    Schwaab, R.8
  • 18
  • 19
    • 0027185452 scopus 로고
    • Mutations of Von Willebrand factor gene in families with Von Willebrand disease in the Aland Islands
    • Zhang ZP, Blombäck 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 USA. 1993;90:7937-7940.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 7937-7940
    • Zhang, Z.P.1    Blombäck, M.2    Nyman, D.3    Anvret, M.4
  • 21
    • 0018779080 scopus 로고
    • Genetics of classic Von Willebrand's disease. I. Phenotypic variation within families
    • Miller CH, Graham JB, Goldin LR, Elston RC. Genetics of classic von Willebrand's disease. I. Phenotypic variation within families. Blood. 1979;54:117-145.
    • (1979) Blood , vol.54 , pp. 117-145
    • Miller, C.H.1    Graham, J.B.2    Goldin, L.R.3    Elston, R.C.4
  • 22
    • 0023164845 scopus 로고
    • Epidemiological investigation of the prevalence of Von Willebrand's disease
    • Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood. 1987;69:454-49.
    • (1987) Blood , vol.69 , pp. 454-549
    • Rodeghiero, F.1    Castaman, G.2    Dini, E.3
  • 23
    • 0031239285 scopus 로고    scopus 로고
    • Von Willebrand disease and quantitative deficiency of Von Willebrand factor
    • Mohlke KL, Ginsburg D. von Willebrand disease and quantitative deficiency of von Willebrand factor. J Lab Clin Med. 1997;130:252-261.
    • (1997) J Lab Clin Med , vol.130 , pp. 252-261
    • Mohlke, K.L.1    Ginsburg, D.2
  • 25
    • 0031686041 scopus 로고    scopus 로고
    • Biochemistry and genetics of Von Willebrand factor
    • Sadler JE. Biochemistry and genetics of von Willebrand factor. Annu Rev Biochem. 1998;67:395-424.
    • (1998) Annu Rev Biochem , vol.67 , pp. 395-424
    • Sadler, J.E.1
  • 26
    • 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 JCJ, Matsushita T, Reitsma PH, Tuley EA, Castaman G, Briet E, Sadler JE. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood. 1996;88:2433-2441.
    • (1996) Blood , vol.88 , pp. 2433-2441
    • Eikenboom, J.C.J.1    Matsushita, T.2    Reitsma, P.H.3    Tuley, E.A.4    Castaman, G.5    Briet, E.6    Sadler, J.E.7
  • 27
  • 28
    • 0021951144 scopus 로고
    • Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level
    • Orstavik KH, Magnus P, Reisner H, Berg K, Graham JB, Nance W. Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level. Am J Hum Genet. 1985;37:89-101.
    • (1985) Am J Hum Genet , vol.37 , pp. 89-101
    • Orstavik, K.H.1    Magnus, P.2    Reisner, H.3    Berg, K.4    Graham, J.B.5    Nance, W.6
  • 29
    • 0030662348 scopus 로고    scopus 로고
    • A twin-pronged attack on complex traits
    • Martin N, Boomsma D, Machin G. A twin-pronged attack on complex traits. Nat Genet. 1997;17:387-392.
    • (1997) Nat Genet , vol.17 , pp. 387-392
    • Martin, N.1    Boomsma, D.2    Machin, G.3
  • 30
    • 0029741063 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases
    • Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science. 1996;273:1516-1517.
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 31
    • 0027363063 scopus 로고
    • Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse
    • Dietrich WF, Lander ES, Smith JS, Moser AR, Gould KA, Luongo C, Borenstein N, Dove W. Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell. 1993;75:631-639.
    • (1993) Cell , vol.75 , pp. 631-639
    • Dietrich, W.F.1    Lander, E.S.2    Smith, J.S.3    Moser, A.R.4    Gould, K.A.5    Luongo, C.6    Borenstein, N.7    Dove, W.8
  • 32
    • 0027262167 scopus 로고
    • Natural resistance to infection with intracellular parasites: Isolation of a candidate for Bcg
    • Vidal SM, Malo D, Vogan K, Skamene E, Gros P. Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg. Cell. 1993;73:469-485.
    • (1993) Cell , vol.73 , pp. 469-485
    • Vidal, S.M.1    Malo, D.2    Vogan, K.3    Skamene, E.4    Gros, P.5
  • 34
    • 0026716153 scopus 로고
    • Molecular genetics of Von Willebrand disease
    • Ginsburg D, Bowie EJW. Molecular genetics of von Willebrand disease. Blood. 1992;79:2507-2519.
    • (1992) Blood , vol.79 , pp. 2507-2519
    • Ginsburg, D.1    Bowie, E.J.W.2
  • 36
  • 37
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell. 1993;72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 40
    • 0032533664 scopus 로고    scopus 로고
    • Comparative mapping of distal murine chromosome 11 and human 17q21.3 in a region containing a modifying locus for murine plasma Von Willebrand factor level
    • Mohlke KL, Purkayastha AA, Westrick RJ, Ginsburg D. Comparative mapping of distal murine chromosome 11 and human 17q21.3 in a region containing a modifying locus for murine plasma von Willebrand factor level. Genomics. 1998;54:19-30.
    • (1998) Genomics , vol.54 , pp. 19-30
    • Mohlke, K.L.1    Purkayastha, A.A.2    Westrick, R.J.3    Ginsburg, D.4
  • 41
    • 0033534406 scopus 로고    scopus 로고
    • Mvwf, a dominant modifier of murine Von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase
    • Mohlke KL, Purkayastha AA, Westrick RJ, Smith PL, Petryniak B, Lowe JB, Ginsburg D. Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell. 1998;96:111-120.
    • (1998) Cell , vol.96 , pp. 111-120
    • Mohlke, K.L.1    Purkayastha, A.A.2    Westrick, R.J.3    Smith, P.L.4    Petryniak, B.5    Lowe, J.B.6    Ginsburg, D.7
  • 42
    • 0028340350 scopus 로고
    • Molecular cloning of a murine N-acetylgalactosamine transferase cDNA that determines expression of the T lymphocyte-specific CT oligosaccharide differentiation antigen
    • Smith PL, Lowe JB. Molecular cloning of a murine N-acetylgalactosamine transferase cDNA that determines expression of the T lymphocyte-specific CT oligosaccharide differentiation antigen. J Biol Chem. 1994;269:15162-15171.
    • (1994) J Biol Chem , vol.269 , pp. 15162-15171
    • Smith, P.L.1    Lowe, J.B.2
  • 44
    • 0020583260 scopus 로고
    • Organ-related differences in binding of Dolichos biflorus agglutinin to vascular endothelium
    • Ponder BAJ, Wilkinson MM. Organ-related differences in binding of Dolichos biflorus agglutinin to vascular endothelium. Dev Biol. 1983;96:535-541.
    • (1983) Dev Biol , vol.96 , pp. 535-541
    • Ponder, B.A.J.1    Wilkinson, M.M.2
  • 45
    • 0021891052 scopus 로고
    • An allelic difference determines reciprocal patterns of expression of binding sites for Dolichos biflorus lectin in inbred strains of mice
    • Ponder BAJ, Festing MFW, Wilkinson MM. An allelic difference determines reciprocal patterns of expression of binding sites for Dolichos biflorus lectin in inbred strains of mice. J Embryol Exp Morph. 1985;87:229-239.
    • (1985) J Embryol Exp Morph , vol.87 , pp. 229-239
    • Ponder, B.A.J.1    Festing, M.F.W.2    Wilkinson, M.M.3
  • 46
    • 0018640314 scopus 로고
    • Carbohydrate composition and identification of blood group A, B, and H oligosaccharide structures on human factor VIII/Von Willebrand factor
    • Sodetz JM, Paulson JC, McKee PA. Carbohydrate composition and identification of blood group A, B, and H oligosaccharide structures on human Factor VIII/von Willebrand factor. J Biol Chem. 1979;254:10754-10760.
    • (1979) J Biol Chem , vol.254 , pp. 10754-10760
    • Sodetz, J.M.1    Paulson, J.C.2    McKee, P.A.3
  • 47
    • 0027318961 scopus 로고
    • Biological roles of oligosaccharides: All of the theories are correct
    • Varki A. Biological roles of oligosaccharides: all of the theories are correct. Glycobiology. 1993;3:97-130.
    • (1993) Glycobiology , vol.3 , pp. 97-130
    • Varki, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.