-
1
-
-
0031686041
-
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
-
2
-
-
0022764677
-
-
Verweij CL, Diergaarde PJ, Hart M, Pannekoek H. Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit [published erratum appears in EMBO J. 1986;5:3074]. EMBO J. 1986;5:1839-1847.
-
Verweij CL, Diergaarde PJ, Hart M, Pannekoek H. Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit [published erratum appears in EMBO J. 1986;5:3074]. EMBO J. 1986;5:1839-1847.
-
-
-
-
3
-
-
0025243601
-
Cell biology of von Willebrand factor
-
Wagner DD. Cell biology of von Willebrand factor. Annu Rev Cell Biol. 1990;6:217-246.
-
(1990)
Annu Rev Cell Biol
, vol.6
, pp. 217-246
-
-
Wagner, D.D.1
-
4
-
-
0028242239
-
von Willebrand factor proteolytic processing and multimerization precede the formation of Weibel-Palade bodies
-
Vischer UM, Wagner DD. von Willebrand factor proteolytic processing and multimerization precede the formation of Weibel-Palade bodies. Blood. 1994;83:3536-3544.
-
(1994)
Blood
, vol.83
, pp. 3536-3544
-
-
Vischer, U.M.1
Wagner, D.D.2
-
5
-
-
0034284294
-
Von Willebrand factor storage and multimerization: 2 independent intracellular processes
-
Haberichter SL, Fahs SA, MontgomeryRR. Von Willebrand factor storage and multimerization: 2 independent intracellular processes. Blood. 2000; 96:1808-1815.
-
(2000)
Blood
, vol.96
, pp. 1808-1815
-
-
Haberichter, S.L.1
Fahs, S.A.2
MontgomeryRR3
-
6
-
-
0020355947
-
Immunolo-calization of von Willebrand protein in Weibel-Palade bodies of human endothelial cells
-
Wagner DD, Olmsted JB, Marder VJ. Immunolo-calization of von Willebrand protein in Weibel-Palade bodies of human endothelial cells. J Cell Biol. 1982;95:355-360.
-
(1982)
J Cell Biol
, vol.95
, pp. 355-360
-
-
Wagner, D.D.1
Olmsted, J.B.2
Marder, V.J.3
-
7
-
-
0017889090
-
-
MontgomeryRR, Zimmerman TS. von Willebrand's disease antigen, II: a new plasma and platelet antigen deficient in severe von Willebrand's disease. J Clin Invest. 1978;61:1498-1507.
-
MontgomeryRR, Zimmerman TS. von Willebrand's disease antigen, II: a new plasma and platelet antigen deficient in severe von Willebrand's disease. J Clin Invest. 1978;61:1498-1507.
-
-
-
-
8
-
-
0033168804
-
von Willebrand factor propeptide in vascular disorders: A tool to distinguish between acute and chronic endothelial cell perturbation
-
van Mourik JA, Boertjes R, Huisveld IA, et al. von Willebrand factor propeptide in vascular disorders: A tool to distinguish between acute and chronic endothelial cell perturbation. Blood. 1999; 94:179-185.
-
(1999)
Blood
, vol.94
, pp. 179-185
-
-
van Mourik, J.A.1
Boertjes, R.2
Huisveld, I.A.3
-
9
-
-
10244266470
-
Quantitative analysis of von Willebrand factor propeptide release in vivo: Effect of experimental endotoxemia and administration of 1-deamino-8- D-arginine vasopressin in humans
-
Borchiellini A, Fijnvandraat K, ten Cate JW, et al. Quantitative analysis of von Willebrand factor propeptide release in vivo: effect of experimental endotoxemia and administration of 1-deamino-8- D-arginine vasopressin in humans. Blood. 1996; 88:2951-2958.
-
(1996)
Blood
, vol.88
, pp. 2951-2958
-
-
Borchiellini, A.1
Fijnvandraat, K.2
ten Cate, J.W.3
-
10
-
-
33748802581
-
Update on the pathophysiology and classification of von Willebrand disease: A report of the Subcommittee on von Willebrand Factor
-
Sadler JE, Budde U, Eikenboom JC, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006;4:2103-2114.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 2103-2114
-
-
Sadler, J.E.1
Budde, U.2
Eikenboom, J.C.3
-
11
-
-
0029817840
-
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;88:2433-2441.
-
(1996)
Blood
, vol.88
, pp. 2433-2441
-
-
Eikenboom, J.C.1
Matsushita, T.2
Reitsma, P.H.3
-
12
-
-
33751219230
-
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Wille- brand disease
-
Cumming A, Grundy P, Keeney S, et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Wille- brand disease. Thromb Haemost. 2006;96:630- 641.
-
(2006)
Thromb Haemost
, vol.96
, pp. 630-641
-
-
Cumming, A.1
Grundy, P.2
Keeney, S.3
-
13
-
-
0034030513
-
Autosomal dominant type 1 von will- ebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: Description of five Italian families and evidence for a founder effect
-
Castaman G, Eikenboom JC, Missiaglia E, Ro- deghiero F. Autosomal dominant type 1 von will- ebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect. Br J Haematol. 2000; 108:876-879.
-
(2000)
Br J Haematol
, vol.108
, pp. 876-879
-
-
Castaman, G.1
Eikenboom, J.C.2
Missiaglia, E.3
Ro- deghiero, F.4
-
14
-
-
0038156292
-
Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease
-
O'Brien LA, James PD, Othman M, et al. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. Blood. 2003;102: 549-557.
-
(2003)
Blood
, vol.102
, pp. 549-557
-
-
O'Brien, L.A.1
James, P.D.2
Othman, M.3
-
15
-
-
0034661897
-
A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propep- tide that results in defective multimerization and secretion
-
Allen S, Abuzenadah AM, Hinks J, et al. A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propep- tide that results in defective multimerization and secretion. Blood. 2000;96:560-568.
-
(2000)
Blood
, vol.96
, pp. 560-568
-
-
Allen, S.1
Abuzenadah, A.M.2
Hinks, J.3
-
16
-
-
0032823229
-
Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation
-
Castaman G, Eikenboom JC, Bertina RM, Ro- deghiero F. Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb Haemost. 1999;82:1065-1070.
-
(1999)
Thromb Haemost
, vol.82
, pp. 1065-1070
-
-
Castaman, G.1
Eikenboom, J.C.2
Bertina, R.M.3
Ro- deghiero, F.4
-
17
-
-
33845967766
-
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MC- MDM-1VWD)
-
Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MC- MDM-1VWD). Blood. 2007;109:112-121.
-
(2007)
Blood
, vol.109
, pp. 112-121
-
-
Goodeve, A.1
Eikenboom, J.2
Castaman, G.3
-
18
-
-
33846026307
-
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study
-
James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood. 2007;109:145-154.
-
(2007)
Blood
, vol.109
, pp. 145-154
-
-
James, P.D.1
Notley, C.2
Hegadorn, C.3
-
19
-
-
0035676504
-
Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene
-
Casana P, Martinez F, Haya S, Espinos C, Aznar JA. Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene. Br J Haematol. 2001;115:692-700.
-
(2001)
Br J Haematol
, vol.115
, pp. 692-700
-
-
Casana, P.1
Martinez, F.2
Haya, S.3
Espinos, C.4
Aznar, J.A.5
-
20
-
-
29244478621
-
Genetic analysis of 31 Swedish type 1 von Wille- brand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype
-
Lanke E, Johansson AM, Hallden C, Lethagen S. Genetic analysis of 31 Swedish type 1 von Wille- brand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype. J Thromb Haemost. 2005;3:2656-2663.
-
(2005)
J Thromb Haemost
, vol.3
, pp. 2656-2663
-
-
Lanke, E.1
Johansson, A.M.2
Hallden, C.3
Lethagen, S.4
-
21
-
-
0035892101
-
Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of het- erodimers: A possible general mechanism for dominant mutations of oligomeric proteins
-
Bodo I, Katsumi A, Tuley EA, et al. Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of het- erodimers: a possible general mechanism for dominant mutations of oligomeric proteins. Blood. 2001;98:2973-2979.
-
(2001)
Blood
, vol.98
, pp. 2973-2979
-
-
Bodo, I.1
Katsumi, A.2
Tuley, E.A.3
-
22
-
-
0036095699
-
Reduced von Willebrand factor survival in type Vicenzavon Willebrand disease
-
Casonato A, Pontara E, Sartorello F, et al. Reduced von Willebrand factor survival in type Vicenzavon Willebrand disease. Blood. 2002;99: 180-184.
-
(2002)
Blood
, vol.99
, pp. 180-184
-
-
Casonato, A.1
Pontara, E.2
Sartorello, F.3
-
23
-
-
28444499005
-
Cysteine-mutations in von Willebrand factor associated with increased clearance
-
Schooten CJ, Tjernberg P, Westein E, et al. Cysteine-mutations in von Willebrand factor associated with increased clearance. J Thromb Haemost. 2005;3:2228-2237.
-
(2005)
J Thromb Haemost
, vol.3
, pp. 2228-2237
-
-
Schooten, C.J.1
Tjernberg, P.2
Westein, E.3
-
24
-
-
0023852791
-
von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers
-
Mannucci PM, Lombardi R, Castaman G, et al. von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers. Blood. 1988;71:65-70.
-
(1988)
Blood
, vol.71
, pp. 65-70
-
-
Mannucci, P.M.1
Lombardi, R.2
Castaman, G.3
-
26
-
-
33751013939
-
-
lebrand disease with decreased VWF survival
-
lebrand disease with decreased VWF survival. Blood. 2006;108:3344-3351.
-
(2006)
Blood
, vol.108
, pp. 3344-3351
-
-
-
27
-
-
33644979514
-
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
-
Eikenboom J, Van M, 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;4:774-782.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 774-782
-
-
Eikenboom, J.1
Van, M.V.2
Putter, H.3
-
28
-
-
33644977050
-
A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: Results from a multicenter European study (MCMDM-1 VWD)
-
Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost. 2006;4:766-773.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 766-773
-
-
Tosetto, A.1
Rodeghiero, F.2
Castaman, G.3
-
29
-
-
12144289138
-
Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: Results of a multicenter European study
-
Federici AB, Mazurier C, Berntorp E, et al. Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study. Blood. 2004;103:2032-2038.
-
(2004)
Blood
, vol.103
, pp. 2032-2038
-
-
Federici, A.B.1
Mazurier, C.2
Berntorp, E.3
-
30
-
-
0023815697
-
Luminography: An alternative assay for detection of von Willebrand factor multimers
-
Schneppenheim R, Plendl H, Budde U. Luminography: an alternative assay for detection of von Willebrand factor multimers. Thromb Haemost. 1988;60:133-136.
-
(1988)
Thromb Haemost
, vol.60
, pp. 133-136
-
-
Schneppenheim, R.1
Plendl, H.2
Budde, U.3
-
31
-
-
1242338729
-
Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: Is it a potential pathogenic process?
-
Brown SA, Eldridge A, Collins PW, Bowen DJ. 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;1:1714-1717.
-
(2003)
J Thromb Haemost
, vol.1
, pp. 1714-1717
-
-
Brown, S.A.1
Eldridge, A.2
Collins, P.W.3
Bowen, D.J.4
-
32
-
-
1842530336
-
An experimental model to study the in vivo survival of von Willebrand factor: Basic aspects and application to the R1205H mutation
-
Lenting PJ, Westein 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 mutation. J Biol Chem. 2004; 279:12102-12109.
-
(2004)
J Biol Chem
, vol.279
, pp. 12102-12109
-
-
Lenting, P.J.1
Westein, E.2
Terraube, V.3
-
33
-
-
43549097149
-
Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): Results from the European Study MCMDM-1VWD
-
Castaman G, Lethagen S, Federici AB, et al. Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. Blood. 2008;111:3531-3539.
-
(2008)
Blood
, vol.111
, pp. 3531-3539
-
-
Castaman, G.1
Lethagen, S.2
Federici, A.B.3
-
34
-
-
0033971892
-
Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: Identification of the first candidate mutation (G3864A; R1205H) in 8 families
-
Schneppenheim R, Federici AB, Budde U, et al. Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. Thromb Haemost. 2000;83:136-140.
-
(2000)
Thromb Haemost
, vol.83
, pp. 136-140
-
-
Schneppenheim, R.1
Federici, A.B.2
Budde, U.3
-
35
-
-
0026630044
-
Impaired intracellular transport produced by a subset of type IIAvon Willebrand disease mutations
-
Lyons SE, Bruck ME, Bowie EJ, Ginsburg D. Impaired intracellular transport produced by a subset of type IIAvon 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.3
Ginsburg, D.4
-
36
-
-
0033865397
-
An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenzaand the G3864A(R1205H) mutation
-
Castaman G, Missiaglia E, Federici AB, Schnep- penheim R, Rodeghiero F. An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenzaand the G3864A(R1205H) mutation. Thromb Haemost. 2000;84:350-351.
-
(2000)
Thromb Haemost
, vol.84
, pp. 350-351
-
-
Castaman, G.1
Missiaglia, E.2
Federici, A.B.3
Schnep- penheim, R.4
Rodeghiero, F.5
-
37
-
-
0021955653
-
Heterogeneity of type I von Willebrand disease: Evidence for a subgroup with an abnormal von Wille- brand factor
-
Mannucci PM, Lombardi R, Bader R, et al. Heterogeneity of type I von Willebrand disease: evidence for a subgroup with an abnormal von Wille- brand factor. Blood. 1985;66:796-802.
-
(1985)
Blood
, vol.66
, pp. 796-802
-
-
Mannucci, P.M.1
Lombardi, R.2
Bader, R.3
-
38
-
-
0028944621
-
Platelet von Willebrand factor in inherited and acquired bleeding disorders
-
Mannucci PM. Platelet von Willebrand factor in inherited and acquired bleeding disorders. Proc Natl Acad Sci U S A. 1995;92:2428-2432.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 2428-2432
-
-
Mannucci, P.M.1
|