von Willebrand factor and von Willebrand disease

Reviews in Clinical and Experimental Hematology

Volumn 5, Issue 4, 2001, Pages 335-

  Budde, Ulrich ^a   Schneppenheim, Reinhard ^a  

^a Arndt and Partner   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIFIBRINOLYTIC AGENT; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; BLOOD CLOTTING FACTOR CONCENTRATE; BPL 8Y; DESMOPRESSIN; FACTANE; GLYCOPROTEIN; OCTANATE; RECOMBINANT BLOOD CLOTTING FACTOR 8; RISTOCETIN; VON WILLEBRAND FACTOR;

BLEEDING; BLOOD CLOTTING TEST; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; ELECTROPHORESIS; FLUSHING; GENOTYPE PHENOTYPE CORRELATION; HEADACHE; HEMOSTASIS; HUMAN; HYPONATREMIA; HYPOTENSION; MENORRHAGIA; MOLECULAR GENETICS; PATHOPHYSIOLOGY; PHENOTYPE; PREGNANCY; PROTEIN PROCESSING; PROTEIN STRUCTURE; REVIEW; SHEAR FLOW; STRUCTURE ACTIVITY RELATION; TACHYCARDIA; THROMBOCYTE ADHESION; THROMBOCYTE DYSFUNCTION; VON WILLEBRAND DISEASE; WATER INTOXICATION;

EID: 0035746912     PISSN: 11270020     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1468-0734.2001.00048.x     Document Type: Review

References (181)

1. Impact, diagnosis and treatment of von Willebrand disease
2. Structure and function of von Willebrand factor
3. Von Willebrand factor and von Willebrand disease
4. Hereditär pseudohemofili
5. Immunological differentiation of classic hemophilia (factor VIII deficiency) and von Willebrand's disease, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor
6. Über ein neues vererbbares blutungsübel: Die konstitutionelle thrombopathie
7. Vascular hemophilia. A familial hemorraghic disease in males and females characterized by combined antihemophilic globulin deficiency and vascular abnormalities
8. Structure of the gene for human von Willebrand factor
9. Human von Willebrand factor gene and pseudogene: Structural analysis and differentiation by polymerase chain reaction
10. Biosynthesis, processing and secretion of von Willebrand factor: Biological implications
11. Structure of von Willebrand factor and its function in platelet adhesion and thrombus formation
12. Acquired deficiency of von Willebrand factor-cleaving protease in a patient with thrombotic thrombocytopenic purpura
13. Von Willebrand factor and von Willebrand disease
14. Variant von Willebrand's disease. Characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets
15. Heterogeneity of plasma von Willebrand factor multimers resulting from proteolysis of the constituent subunit
16. Control of von Willebrand factor multimer size by thrombospondin-1
17. 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)
18. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type ILA von Willebrand factor
19. Electron microscopy of von Willebrand factor
20. Shear-dependent changes in the three-dimensional structure of human von Willebrand factor
21. Von Willebrand Factor: Molecular size and functional activity
22. Von Willebrand factor. A reduced and alkylated 52/48kDa fragment beginning at amino acid residue 449 contains the domain interacting with platelet glycoprotein Ib
23. Identification of point mutations in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor
24. Impaired intracellular transport produced by a subset of type-ILA von Willebrand disease mutations
25. Type 2M von Willebrand disease variant characterized by abnormal von Willebrand factor multimerization
26. Crystal structure of von Willebrand factor A1 domain in complex with the function blocking NMC-4 Fab
27. Modeling and functional analysis of the interaction of the von Willebrand factor A1 domain and glycoprotein Ibα
28. New perspectives in cell adhesion. RGD and integrins
29. Integrins: A family of cell receptors
30. Evidence that three adhesive proteins interact with a common recognition site on activated platelets
31. Von Willebrand factor promotes endothelial cell adhesion via an arg-gly-asp-dependent mechanism
32. A major FVIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor
33. A novel type 2N von Willebrand disease-causing mutation that results in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
34. A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization
35. 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
36. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: From the patient to the gene
37. Identification of two closely located type 2N vWD mutations (Tyr32Cys and Met37Val)
38. Characterization of a combined defect of FVIII binding and multimerization in a patient with von Willebrand disease type 2N
39. Identification of domains responsible for von Willebrand factor type VI collagen interaction mediating platelet adhesion under high flow
40. Localization of binding sites with human von Willbrand factor for monomeric type III collagen
41. Crystal structure of the A3 domain of human von Willebrand factor: Implications for collagen binding
42. Identification of the collagen-binding site of the von Willebrand factor A3-domain
43. Substructure of human von Willebrand factor. Proteolysis by V8 and characterization of two functional domains
44. The binding domain of von Willebrand factor to sulfatides is distinct from those interacting with glycoprotein Ib, heparin and collagen and resides between amino acid residues Leu 512 and Lys 673
45. Structure von Willebrand factor and its function in platelet adhesion and thrombus formation
46. A revised model for platelet aggregation
47. Von Willebrand factor interaction with the glycoprotein IIb/IIIa complex. Its role in platelet function as demonstrated in patients with congenital afibrinogenemia
48. Type 2N von Willebrand disease: Clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology
49. Epidemiological investigation of the prevalence of von Willebrand's disease
50. Prevalence of von Willebrand's disease among US adults
51. Prevalence of von Willebrand disease in children. A multiethnic study
52. Von Willebrand's disease
53. The half-life of infused factor VIII is shorter in hemophiliac patients with blood group O than in those with blood group A
54. The effect of ABO blood group on the diagnosis of von Willebrand disease
55. Von Willebrand factor is an acute phase reactant in man
56. Congenital von Willebrand disease type I. Definition, phenotypes, clinical and laboratory assesment
57. Low platelet alpha(2)beta(1) levels in type 1 von Willebrand disease correlate with impaired platelet function in a high shear stress system
58. Classification of von Willebrand disease
59. A revised classification of von Willebrand disease
60. Commentary: A new classification for von Willebrand disease
61. A molecular approach to the classification of von Willebrand disease
62. New variant of von Willebrand disease with defective binding to factor VIII
63. Von Willebrand disease masquerading as haemophilia A
64. The bleeding time in normal subjects is mainly determined by platelet von Willebrand factor and is independent from blood group
65. The relation of blood platelets to hemorrhagic disease
66. The bleeding tendency in jaundice
67. Influence of aspirin on platelets and the bleeding time
68. The bleeding time does not predict surgical bleeding
69. Simulation of primary hemostasis in vitro
70. Screening for von Willebrand disease with a new analyzer using high shear stress: A study of 60 cases
71. Shear stress activation of platelet glycoprotein IIb/IIIa plus von Willebrand factor causes aggregation: Filter blockage and the long term bleeding time in von Willebrand's disease
72. Standardisation of factor VIII and von Willebrand factor in plasma: Calibration of the 4th International Standard (97/586)
73. Type 1 von Willebrand disease - A clinical retrospective study of the diagnosis, the influence of the ABO blood group and the role of the bleeding history
74. Platelet von Willebrand factor: An important determinant of the bleeding time in type I von Willebrand's disease
75. Platelet von Willebrand factor assay - Results using 2 methods for platelet lysis
76. Determination of the von Willebrand's disease antigen (factor VIII-related antigen) in plasma by immunoelec-trophoresis
77. Enzyme immtmoassay for factor VIII-related antigen
78. A new automated method for von Willebrand factor antigen measurement using latex particles
79. Quantitative assay of a plasma factor in von Willebrand's disease that is necessary for platelet aggregation
80. A method for assaying von Willebrand factor (ristocetin cofactor)
81. Laboratory testing for von Willebrand disease: An assessment of current diagnostic practice and efficacy by means of a multi-laboratory survey
82. A reliable and reproducible ELISA method to measure Ristocetin Cofactor activity of von Willebrand factor
83. An ELISA test for the binding of von Willebrand factor antigen to collagen
84. Von Willebrand's disease: Use of collagen binding assay provides potential improvement to laboratory monitoring of desmopressin (DDAVP) therapy
85. Von Willebrand factor activity detected in a monoclonal antibody-based ELISA: An alternative to the ristocetin platelet agglutination assay for diagnostic use
86. Collagen binding assay for von Willebrand factor (vWF:CBA): Detection of von Willebrands disease (VWD), and discrimination of VWD subtypes, depends on collagen source
87. Detection of von Willebrand disorder and identification of qualitative von Willebrand factor defects. Direct comparison of commercial ELISA-based von Willebrand factor activity options
88. Ristocetin - A new tool in the investigation of platelet aggregation
89. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease
90. Type 2M vWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor
91. Identifications of type 2 von Willebrand disease in previously diagnosed type 1 patients: A reappraisal using phenotypes, genotypes and molecular modelling
92. The interaction of Botrocetin with normal or variant von Willebrand factor (type-IIA and type-IIB) and its inhibition by monoclonal antibodies that block receptor binding
93. Type IIB von Willebrand factor with normal sialic acid content induces platelet aggregation in the absence of ristocetin
94. Normal binding of plasma von Willebrand factor to platelets in essential thrombocythemia
95. Interest of a simple and fast method for platelet von Willebrand factor characterization
96. Comparison between von Willebrand factor (vWF) and vWF antigen II in normal individuals and patients with von Willebrand disease
97. Quantitative analysis of von Willebrand factor and its propeptide in plasma in acquired von Willebrand syndrome
98. Factor VIII-related protein circulates in normal human plasma as high molecular weight multimers
99. Luminographic detection of von Willebrand factor multimers in agarose gels and on nitrocellulose membranes
100. Correction of the bleeding time in treated patients with von Willebrand disease is not solely dependent on the normal multimeric structure of plasma von Willebrand factor
101. Type 2N von Willebrand disease: Clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology
102. Molecular basis of human von Willebrand disease: Analysis of platelet von Willebrand factor mRNA
103. Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function
104. Expression and characterization of von Willebrand dimerization defects in different types of von Willebrand disease
105. Defective dimerization of von Willebrand factor subunits due to a Cys Arg mutation in IID von Willebrand disease
106. Aberrant dimerization of von Willebrand factor as a result of mutations in the carboxyterminal region: Identification of 3 mutations in members of 3 different families with type 2A (phenotype IID) von Willebrand disease
107. Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease
108. Identification of a missense mutation in a family with von Willebrand disease type IIC
109. Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) disease
110. Von Willebrand disease type 2A with aberrant structure of individual oligomers is caused by mutations clustering in the von Willebrand factor D3 domain
111. 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
112. The first mutations in von Willebrand disease type IIC Miami
113. Type-II-H von Willebrand disease - New structural abnormality of plasma and platelet von Willebrand Factor in a patient with prolonged bleeding time and borderline levels of ristocetin cofactor activity
114. Disulfide bonds required to assemble functional von Willebrand factor
115. A new candidate mutation (A2801D) in the CK domain of von Willebrand factor is responsible for a rare form of von Willebrand disease type 2A (formerly type IID)
116. A new von Willebrand variant (type I, New York): Increased ristocetin-induced platelet aggregation and plasma von Willebrand factor containing the full range of multimers
117. Identification of point mutations in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor
118. The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain
119. Molecular basis of von Willebrand disease IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences
120. Von Willebrand disease type 2M 'Vicenza' in Italian and German patients: Identification of the first candidate mutation (G3864R; R1205H) in 8 families
121. New families with von Willebrand disease type 2M (Vicenza)
122. Identification of five new cysteine mutations in the D3 domain of von Willebrand factor inducing type 2M von Willebrand disease
123. S1731T mutation within the A3 domain of von Willebrand factor leads to a new variant of von Willebrand disease with defective binding to collagen
124. The "Normandy" variant of von Willebrand disease: Characterization of a point mutation in the von Willebrand factor gene
125. Abnormal binding of FVIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease
126. Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction
127. Results of a screening for von Willebrand disease type 2N patients with suspected haemophilia A or van Willebrand disease type 1
128. Obstetric and gynaecological aspects of von Willebrand disease
129. Quality of life during menstruation in patients with inherited bleeding disorders
130. Gynecological disorders and psychological problems in 184 women with von Willebrand disease
131. Blood clotting factors in pregnancy: Factor VIII concentrations in normal and AHF-deficient women
132. Pregnancy in women with different types of von Willebrand disease
133. Pregnancy in women with type I von Willebrand disease caused by heterozygosity for von Willebrand factor mutation C1130F
134. Thrombocytopenia associated with pregnancy in a patient with IIB VWD
135. A 2-year-old boy with recurrent severe bleeding: Von Willebrand type 2B and ITP or von Willebrand type 2B alone?
136. The reproductive health of women with von Willebrand disease unresponsive to DDAVO: Results of an international survey
137. Two consecutive pregnancies and deliveries in a patient with von Willebrand disease type 3
138. Acquired von Willebrand's syndrome in systemic lupus erythematodes
139. Four cases of acquired von Willebrand's syndrome
140. Von Willebrand's syndrome presenting as an acquired bleeding disorder in association with a monoclonal gammopathy
141. A hemorrhagic syndrome in Waldenström's macroglobulinemia secondary to immunoadsorption of factor VIII
142. Acquired von Willebrand disease in a patient with Wilms tumor
143. Acquired von Willebrand's disease in the myeloproliferative syndrome
144. Loss of the largest von Willebrand factor multimers from plasma of patients with congenital cardiac defects
145. Hypothyroidism as a cause of acquired von Willebrand's disease
146. Acquired von Willebrand disease after Epstein-Barr virus infection
147. Acquired von Willebrand's disease in malignancy
148. Acquired von Willebrand's disease: A concise review
149. Acquired von Willebrand disease: Concise review of occurrence, diagnosis, pathogenesis and treatment
150. Acquired von Willebrand Syndromes: Clinical features, etiology, pathophysiology, classification and management
151. Acquired von Willebrand syndrome: From pathophysiology to management
152. Acquired von Willebrand syndrome: Data from an international registry
153. Abnormal von Willebrand factor in bleeding angiodysplasias of the digestive tract
154. Vasopressin-induced von Willebrand factor secretion from endothelial cells involve V2 receptors and cAMP
155. A new phamacological approach to the management of hemophilia and von Willebrand disease
156. Managment of inherited von Willebrand disease
157. Consistency of responses to repeated DDAVP infusions in patients with von Willebrand disease and haemophilia A
158. Hyponatremia and seizures in young children given DDAVP
159. Myocardial infarction in a patient with hemopilia A treated with DDAVP
160. Desmopressin and thrombosis
161. Heterogeneity of type I von Willebrand disease: Evidence for a subgroup with abnormal von Willebrand factor
162. DDAVP treatment in a child with von Willebrand disease type 2M
163. Biological effect of desmopressin in eight patients with type 2N von Willebrand disease
164. FVIII:C increases after desmopressin in a subgroup of patients with autosomal recessive severe von Willebrand disease
165. Platelet aggregation induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in type IIB von Willebrand disease
166. Platelet aggregation and pseudothrombocytopenia induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in type IIB von Willebrand disease
167. Management of severe thrombocytopenia in von Willebrand disease type 2B
168. Replacement therapy with virus-inactivated plasma concentrates in von Willebrand disease
169. The use of heat-treated factor VIII-concentrates in von Willebrand's disease
170. Proteolysis of von Willebrand factor in therapeutic plasma concentrates
171. Chromatographic preparation of a therapeutic highly purified von Willebrand factor concentrate from human cryoprecipitate
172. A high purity factor VIII concentrate in the treatment of von Willebrand's disease
173. Hemostatic effect of normal platelet transfusion in severe von Willebrand disease
174. Precipitating antibodies to FVIII/von Willebrand factor in von Willebrand disease: Effect on replacement therapy
175. Life-threatening reaction to FVIII concentrate in a patient with severe vWD and alloantibodies to von Willebrand factor
176. Dominant type I von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor
177. Von Willebrand disease in the RIIIS/J inbred mouse strain as a model for von Willebrand disease
178. A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11
179. Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase
180. Acquired von Willebrand syndromes: Experience from two years in a single laboratory compared to figures from the literature and an international registry