A molecular approach to the classification of von Willebrand disease

Best Practice and Research: Clinical Haematology

Volumn 14, Issue 2, 2001, Pages 281-298

  Schneppenheim, Reinhard ^a   Budde, Ulrich ^b   Ruggeri, Zaverio M ^c  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Arndt and Partner   (Germany)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Classification; Molecular genetics; Multimers; von Willebrand disease; von Willebrand disease type 2; von Willebrand factor

Indexed keywords

POLYMER; VON WILLEBRAND FACTOR;

ARTICLE; BIOCHEMISTRY; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISEASE CLASSIFICATION; ELECTROPHORESIS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; INDIVIDUALITY; MEDICAL RESEARCH; MOLECULAR DYNAMICS; MOLECULAR GENETICS; NOMENCLATURE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; VON WILLEBRAND DISEASE;

EID: 0034912146     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1053/beha.2001.0134     Document Type: Article

References (76)

1. Hereditär pseudohemofili
2. Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's disease, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired anticoagulant against antihemophilic factor
3. Über ein neues verebbares Blutungsübel: Die konstitutionelle Thrombopathie
4. Vascular hemophilia. A familial hemorraghic disease in males and females characterized by combined antihemophilic globulin deficiency and vascular abnormalities
5. Genetic variants of von Willebrand's disease
6. von Willebrand factor and von Willebrand disease
7. Classification of von Willebrand disease
8. Human von Willebrand factor (VWF): Isolation of complementary DNA (cDNA) clones and chromosomal localization
9. Molecular cloning of cDNA for human von Willebrand factor: Authentication by a new method
10. Cloning and characterization of two cDNAs coding for human von Willebrand factor
11. Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene
12. Structure of the gene for human von Willebrand factor
13. Enzyme-linked immunoabsorbent assay of factor VIII-related antigen. Interest in study of von Willebrand's disease
14. Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content
15. Variant von Willebrand's disease: Characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets
16. Heightened interaction between platelets and factor VIII/ von Willebrand factor in new subtype of von Willebrand's disease
17. An ELISA test for the binding of von Willebrand antigen to collagen
18. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type I
19. The complex multimeric composition of factor VIII/von Willebrand factor
20. A modified SDS agarose gel method for determining factor VIII von Willebrand factor multimers using commercially available reagents
21. Luminography - An alternative assay for detection of von Willebrand factor multimers
22. A revised classification of von Willebrand disease
23. Gene deletions correlate with the development of alloantibodies in von Willebrand disease
24. Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease
25. A stop codon in a patient with severe type III von Willebrand disease
26. Mutations in severe, type III von Willebrand's disease in the Dutch population: Candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA
27. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I
28. Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin
29. Genetic heterogeneity of severe von Willebrand disease type III in the German population
30. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin
31. A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion
32. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease
33. Heterogeneity of type I von Willebrand disease: Evidence for a subgroup with an abnormal von Willebrand factor
34. von Willebrand factor multimer patterns in von Willebrand's disease
35. Heterogeneous abnormalities in the multimeric structure, antigenic properties, and plasma-platelet content of factor VIII/von Willebrand factor in subtypes of classic (type I) and variant (type IIA) von Willebrand's disease
36. Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand's disease (type IIC)
37. A new variant of dominant type II von Willebrand's disease with aberrant multimeric pattern of factor VIII-related antigen (type IID)
38. Investigation of a kindred with a new autosomal dominantly inherited variant type von Willebrand's disease (possible type IID)
39. 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 IID, and IIE)
40. A new variant of type II von Willebrand disease with aberrant multimeric structure of plasma but not platelet von Willebrand factor (type IIF)
41. A variant of type II von Willebrand disease with an abnormal triplet structure and discordant effects of protease inhibitors on plasma and platelet von Willebrand factor structure
42. 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
43. A new variant of von Willebrand disease (type II I) with a normal degree of proteolytic cleavage of von Willebrand factor
44. 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
45. von Willebrand's disease characterized by increased ristocetin sensitivity and the presence of all von Willebrand factor multimers in plasma
46. von Willebrand's disease type B: A newly defined bleeding diathesis
47. von Willebrand disease 'Vicenza' with larger-than-normal (supranormal) von Willebrand factor multimers
48. High-resolution analysis of von Willebrand factor multimeric composition defines a new variant of type I von Willebrand disease with aberrant structure but presence of all size multimers (type IC)
49. Abnormal proteolytic degradation of von Willebrand factor after desmopressin infusion in a new subtype of von Willebrand disease (ID)
50. New variant of von Willebrand disease with defective binding to factor VIII
51. A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction
52. Von Willebrand's disease
53. Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations
54. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor
55. Molecular basis of human von Willebrand disease: Analysis of platelet von Willebrand factor mRNA
56. Defective dimerization of von Willebrand factor subunits due to a Cys Arg mutation in type IID von Willebrand disease
57. Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease
58. Identification of a candidate missense mutation in a family with von Willebrand disease type IIC
59. Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease
60. von Willebrand disease type 2A with aberrant structure of individual oligomers is caused by mutations clustering in the von Willebrand factor D3 domain
61. The first mutations in von Willebrand disease type IIC Miami
62. 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
63. The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative Gplb binding domain
64. Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences
65. 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
66. von Willebrand Disease type 2M 'Vicenza' in Italian and German patients: Identification of the first candidate mutation (G3864A; R1205H) in 8 families
67. Identification of type 2 von Willebrand disease in previously diagnosed type I patients: A reappraisal using phenotypes, genotypes and molecular modelling
68. The 'Normandy' variant of von Willebrand disease: Characterization of a point mutation in the von Willebrand factor gene
69. Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease
70. Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction
71. A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization
72. 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
73. Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
74. Characterization of a combined defect of FVIII binding and multimerization in a patient with von Willebrand disease type 2N
75. 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