von willebrand disease

Summary

Summary: Group of hemorrhagic disorders in which the von Willebrand factor (Factor VIII-related antigen) is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.

Top Publications

  1. ncbi Acquired von Willebrand disease
    Shaji Kumar
    Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, Minn 55905, USA
    Mayo Clin Proc 77:181-7. 2002
  2. ncbi A novel nanobody that detects the gain-of-function phenotype of von Willebrand factor in ADAMTS13 deficiency and von Willebrand disease type 2B
    Janine J J Hulstein
    Laboratory for Thrombosis and Haemostasis, Department of Haematology, G03 647, University Medical Center Utrecht, PO Box 85500, 3584 CX Utrecht, The Netherlands
    Blood 106:3035-42. 2005
  3. ncbi A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD)
    A Tosetto
    San Bortolo Hospital, Vicenza, Italy
    J Thromb Haemost 4:766-73. 2006
  4. ncbi Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor
    J E Sadler
    Howard Hughes Medical Institute, Washington University, St Louis, MO 63110, USA
    J Thromb Haemost 4:2103-14. 2006
  5. ncbi Gene conversions are a common cause of von Willebrand disease
    P K Gupta
    Department of Transfusion Medicine, Armed Forces Medical College, Pune, India
    Br J Haematol 130:752-8. 2005
  6. ncbi Crystal structure of the wild-type von Willebrand factor A1-glycoprotein Ibalpha complex reveals conformation differences with a complex bearing von Willebrand disease mutations
    John J Dumas
    Department of Chemical and Screening Sciences, Wyeth, Cambridge, Massachusetts 02140, USA
    J Biol Chem 279:23327-34. 2004
  7. pmc A mouse model of severe von Willebrand disease: defects in hemostasis and thrombosis
    C Denis
    The Center for Blood Research, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 95:9524-9. 1998
  8. ncbi Non-surgical bleeding in patients with ventricular assist devices could be explained by acquired von Willebrand disease
    Ulrich Geisen
    Department of Clinical Chemistry, University Medical Center Freiburg, Freiburg, Germany
    Eur J Cardiothorac Surg 33:679-84. 2008
  9. ncbi The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease
    J Stakiw
    Department of Medicine, Queen s University, Kingston, ON, Canada
    J Thromb Haemost 6:90-6. 2008
  10. ncbi Highly purified VWF/FVIII concentrates in the treatment and prophylaxis of von Willebrand disease: the PRO. WILL Study
    A B Federici
    Angelo Bianchi Bonomi Hemophilia Thrombosis Center, Department of Internal Medicine and Medical Specialties, Foundation IRCCS Maggiore Policlinico Hospital, Mangiagalli, Regina Elena, Milan, Italy
    Haemophilia 13:15-24. 2007

Detail Information

Publications256 found, 100 shown here

  1. ncbi Acquired von Willebrand disease
    Shaji Kumar
    Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, Minn 55905, USA
    Mayo Clin Proc 77:181-7. 2002
    Acquired von Willebrand disease (AvWD) is a relatively rare acquired bleeding disorder that usually occurs in elderly patients, in whom its recognition may be delayed...
  2. ncbi A novel nanobody that detects the gain-of-function phenotype of von Willebrand factor in ADAMTS13 deficiency and von Willebrand disease type 2B
    Janine J J Hulstein
    Laboratory for Thrombosis and Haemostasis, Department of Haematology, G03 647, University Medical Center Utrecht, PO Box 85500, 3584 CX Utrecht, The Netherlands
    Blood 106:3035-42. 2005
    ..detection of activated VWF in plasma of patients characterized by spontaneous VWF-platelet interactions: von Willebrand disease (VWD) type 2B and thrombotic thrombocytopenic purpura (TTP)...
  3. ncbi A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD)
    A Tosetto
    San Bortolo Hospital, Vicenza, Italy
    J Thromb Haemost 4:766-73. 2006
    A quantitative description of bleeding symptoms in type 1 von Willebrand disease (VWD) has never been reported.
  4. ncbi Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor
    J E Sadler
    Howard Hughes Medical Institute, Washington University, St Louis, MO 63110, USA
    J Thromb Haemost 4:2103-14. 2006
    b>von Willebrand disease (VWD) is a bleeding disorder caused by inherited defects in the concentration, structure, or function of von Willebrand factor (VWF). VWD is classified into three primary categories...
  5. ncbi Gene conversions are a common cause of von Willebrand disease
    P K Gupta
    Department of Transfusion Medicine, Armed Forces Medical College, Pune, India
    Br J Haematol 130:752-8. 2005
    b>von Willebrand disease (VWD), the most common inherited bleeding disorder, is very heterogeneous, both in its phenotype and genotype...
  6. ncbi Crystal structure of the wild-type von Willebrand factor A1-glycoprotein Ibalpha complex reveals conformation differences with a complex bearing von Willebrand disease mutations
    John J Dumas
    Department of Chemical and Screening Sciences, Wyeth, Cambridge, Massachusetts 02140, USA
    J Biol Chem 279:23327-34. 2004
    ..and an extended isomer that favors tight association as seen in the complex containing A1 with a type 2B von Willebrand Disease (VWD) mutation associated with spontaneous binding to GpIbalpha...
  7. pmc A mouse model of severe von Willebrand disease: defects in hemostasis and thrombosis
    C Denis
    The Center for Blood Research, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 95:9524-9. 1998
    von Willebrand factor (vWf) deficiency causes severe von Willebrand disease in humans. We generated a mouse model for this disease by using gene targeting. vWf-deficient mice appeared normal at birth; they were viable and fertile...
  8. ncbi Non-surgical bleeding in patients with ventricular assist devices could be explained by acquired von Willebrand disease
    Ulrich Geisen
    Department of Clinical Chemistry, University Medical Center Freiburg, Freiburg, Germany
    Eur J Cardiothorac Surg 33:679-84. 2008
    ..by the individual anticoagulation regimen alone in several cases, but may be symptomatic of acquired von Willebrand disease (VWD)...
  9. ncbi The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease
    J Stakiw
    Department of Medicine, Queen s University, Kingston, ON, Canada
    J Thromb Haemost 6:90-6. 2008
    The effect of exercise on von Willebrand factor (VWF) and ADAMTS-13 levels in individuals with von Willebrand disease (VWD) has never been reported.
  10. ncbi Highly purified VWF/FVIII concentrates in the treatment and prophylaxis of von Willebrand disease: the PRO. WILL Study
    A B Federici
    Angelo Bianchi Bonomi Hemophilia Thrombosis Center, Department of Internal Medicine and Medical Specialties, Foundation IRCCS Maggiore Policlinico Hospital, Mangiagalli, Regina Elena, Milan, Italy
    Haemophilia 13:15-24. 2007
    Two therapeutic approaches are available to manage patients with von Willebrand disease (VWD): (i) the release of endogenous von Willebrand factor (VWF) from endothelial compartments induced by desmopressin (DDAVP); (ii) the transfusion ..
  11. ncbi The von Willebrand disease prophylaxis network: exploring a treatment concept
    E Berntorp
    J Thromb Haemost 4:2511-2. 2006
  12. ncbi Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients
    Luciano Baronciani
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, IRCCS Maggiore Hospital and University of Milan, Italy
    Blood Cells Mol Dis 30:264-70. 2003
    Type 3 von Willebrand disease (VWD) is characterized by unmeasurable von Willebrand factor (VWF) levels in plasma and platelets and severe hemorrhagic symptoms...
  13. pmc Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF
    Tadayuki Yago
    Cardiovascular Biology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma 73104, USA
    J Clin Invest 118:3195-207. 2008
    ..Mutations in the vWF A1 domain that cause type 2B von Willebrand disease (vWD) reduce the flow requirement for adhesion...
  14. ncbi Laboratory diagnosis of congenital von Willebrand disease
    Ulrich Budde
    Coagulation Laboratory, Laboratory Association Prof Arndt and Partners, Hamburg, Germany
    Semin Thromb Hemost 28:173-90. 2002
    b>Von Willebrand disease (vWD) is caused by quantitative or qualitative defects, or both, of the von Willebrand factor (vWF), a multimeric high-molecular glycoprotein (GP)...
  15. ncbi Clinical uses of plasma and plasma fractions: plasma-derived products for hemophilias A and B, and for von Willebrand disease
    Cassandra D Josephson
    Division of Hematology Oncology Bone Marrow Transplant, Pathology, Laboratory Medicine, Pediatrics, Emory University School of Medicine, 2015 Uppergate Dr NE, Atlanta, GA 30322, USA
    Best Pract Res Clin Haematol 19:35-49. 2006
    The use of plasma-derived factor products to treat hemophilia A, hemophilia B, and von Willebrand disease (vWD) has changed since the start of the human immunodeficiency virus (HIV) epidemic...
  16. pmc Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival
    Sandra L Haberichter
    Department of Pediatrics Hematology Oncology, Medical College of Wisconsin, 8701 Watertown Plank Rd, Milwaukee, WI 53226, USA
    Blood 108:3344-51. 2006
    Type 1 von Willebrand disease (VWD) is characterized by a partial quantitative deficiency of von Willebrand factor (VWF). Few VWF gene mutations have been identified that cause dominant type 1 VWD...
  17. ncbi Von Willebrand factor 1 and factor 2 alleles (intron 40) are suitable markers for carrier detection in von Willebrand disease families in the Indian population
    Sucheta Trasi
    Institute of Immunohematology ICMR, KEM Hospital Campus, Parel, Mumbai, India
    Acta Haematol 115:64-7. 2006
    ..intron 40 variable number of tandem repeat (VNTR) markers, vWF1 and vWF2, in the genetic diagnosis of von Willebrand disease (vWD) in Indian patients was studied...
  18. ncbi Von Willebrand disease - phenotype versus genotype: deficiency versus disease
    David Lillicrap
    Department of Pathology and Molecular Medicine, Queen s University, Kingston, Canada
    Thromb Res 120:S11-6. 2007
    b>Von Willebrand disease (VWD) is classified into three primary subtypes; type 1 includes partial quantitative deficiency, type 2 (A, B, M and N) includes qualitative defects and type 3 includes virtually complete deficiency of von ..
  19. ncbi The evolving classification of von Willebrand disease
    Reinhard Schneppenheim
    Department of Pediatric Hematology and Oncology, Center of Gynecology, Obstetrics and Pediatrics, University Hospital Hamburg Eppendorf, Hamburg, Germany
    Blood Coagul Fibrinolysis 16:S3-S10. 2005
    The classification of von Willebrand disease (VWD) has been refined since its first description in the 1920s, as knowledge regarding clinical symptoms and tests of von Willebrand factor (VWF) activity and multimer composition have ..
  20. ncbi Prevalence and spectrum of von Willebrand disease from western India
    Sucheta Trasi
    Institute of Immunohaematology, Mumbai, India
    Indian J Med Res 121:653-8. 2005
    b>von Willebrand disease (VWD) is one of the most common inherited bleeding disorders in the west. Limited studies from India showed a prevalence of approximately 10 per cent of VWD among the cases with hereditary bleeding disorders...
  21. ncbi Epidemiology of von Willebrand disease in developing countries
    Alok Srivastava
    Department of Haematology, Christian Medical College, Vellore, India
    Semin Thromb Hemost 31:569-76. 2005
    There is limited information on von Willebrand disease (vWD) in developing countries. A questionnaire survey in 1998 showed that overall, less than one third of the expected number of patients with vWD in the population had been detected...
  22. ncbi Congenital von Willebrand disease type I: definition, phenotypes, clinical and laboratory assessment
    F Rodeghiero
    Department of Hematology and Hemophilia, Thrombosis Center, San Bortolo Hospital, 36100 Vicenza, Italy
    Best Pract Res Clin Haematol 14:321-35. 2001
    b>Von Willebrand disease, with a prevalence of about 1% in the general population, is the most frequent inherited bleeding disorder...
  23. ncbi Management of von Willebrand disease with factor VIII/von Willebrand factor concentrates: results from current studies and surveys
    Augusto B Federici
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Dermatology, Fondazione Ospedale Policlinico, Mangiagalli e Regina Elena, and University of Milan, Italy
    Blood Coagul Fibrinolysis 16:S17-21. 2005
    Until the mid 1980s, cryoprecipitate had been the mainstay of treatment of patients with von Willebrand disease (VWD) who were unresponsive to desmopressin...
  24. ncbi Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation
    G Castaman
    Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy
    Am J Hematol 82:376-80. 2007
    ..missense mutation G7335T (C2362F) in exon 42 in a propositus from a new family with autosomal recessive von Willebrand disease (VWD)...
  25. ncbi Gastrointestinal bleeding in von Willebrand disease
    Michael Makris
    Sheffield Haemophilia and Thrombosis Centre, Royal Hallamshire Hospital, Sheffield, United Kingdom
    Thromb Res 118:S13-7. 2006
    Gastrointestinal bleeding due to colonic angiodysplasia is a well-recognised complication of von Willebrand disease (vWD), occurring almost exclusively in subtypes of the disease associated with a reduction in high-molecular-weight (HMW) ..
  26. ncbi Intravenous DDAVP and factor VIII-von Willebrand factor concentrate for the treatment and prophylaxis of bleedings in patients With von Willebrand disease type 1, 2 and 3
    Jan Jacques Michiels
    Hemostasis Thrombosis Research, Department of Hematology, University Hospital Antwerp, Belgium
    Clin Appl Thromb Hemost 13:14-34. 2007
    ....
  27. ncbi Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor
    S D Russell
    Hematology Section, Seattle Veterans Hospital, WA
    Blood 81:1787-91. 1993
    Pseudo (platelet-type)-von Willebrand disease is an autosomal dominant bleeding disorder caused by the hyperfunction of a receptor on the platelet surface...
  28. ncbi Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study
    Martina E Daly
    Academic Unit of Haematology, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield, United Kingdom
    Blood 113:4110-3. 2009
    ..a lysine to glutamate (K174E) substitution in P2Y(12), was identified in one case with mild type 1 von Willebrand disease (VWD) and a VWF defect...
  29. ncbi Genetic heterogeneity of severe von Willebrand disease type III in the German population
    R Schneppenheim
    Universitäts Kinderklinik Kiel, Germany
    Hum Genet 94:640-52. 1994
    The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism ..
  30. ncbi Type 1 von Willebrand disease: application of emerging data to clinical practice
    P W Collins
    Arthur Bloom Haemophilia Centre, School of Medicine, Cardiff University, University Hospital of Wales, Cardiff, UK
    Haemophilia 14:685-96. 2008
    There has been much recent data published on type 1 von Willebrand disease (VWD) predominantly from three multi-centre cohort studies...
  31. ncbi Use of recombinant factor VIIa in inherited and acquired von Willebrand disease
    Christoph Sucker
    Department of Hemostasis and Transfusion Medicine, Heinrich Heine University Medical Center, Dusseldorf, Germany
    Clin Appl Thromb Hemost 15:27-31. 2009
    ..In this article, the authors focus on the use of the agent in patients with inherited or acquired von Willebrand disease (vWD)...
  32. ncbi Managing patients with von Willebrand disease type 1, 2 and 3 with desmopressin and von Willebrand factor-factor VIII concentrate in surgical settings
    Jan Jacques Michiels
    Hemostasis and Thrombosis Research Center, Antwerp University Hospital, Wilrijkstraat 10, Edegem, Belgium
    Acta Haematol 121:167-76. 2009
    Guidelines and recommendations for the acute and prophylactic treatment of bleeding in von Willebrand disease (VWD) patients with von Willebrand factor (VWF)/factor VIII (FVIII) concentrates should be based on the analysis of the content ..
  33. pmc Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease
    E W Murray
    Department of Pathology, Queen s University, Kingston, Ontario, Canada
    Am J Hum Genet 50:199-207. 1992
    ....
  34. ncbi Treatment of von Willebrand disease
    Francesco Rodeghiero
    Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy
    Semin Hematol 42:29-35. 2005
    The bleeding tendency in von Willebrand disease (VWD) is heterogeneous and some patients with the mildest form of the disease have no significant bleeding symptoms throughout their lives...
  35. pmc Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease
    J L Miller
    Department of Pathology, State University of New York Health Science Center, Syracuse 13210
    Proc Natl Acad Sci U S A 88:4761-5. 1991
    Platelet-type von Willebrand disease (PT-vWD) is an autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor (vWF) by patient platelets...
  36. ncbi Determination of von Willebrand factor activity with collagen-binding assay and diagnosis of von Willebrand disease: effect of collagen source and coating conditions
    Ryszard Paczuski
    Department of Pathophysiology, Ludwik Rydygier Medical University, ul M Skłodowskiej Curie 9, 85 094 Bydgoszcz, Poland
    J Lab Clin Med 140:250-4. 2002
    ..This procedure is useful in the diagnosis of von Willebrand disease and allows researchers to distinguish between disease types I and II.
  37. ncbi Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease-causing variants of von Willebrand factor
    Gregoire Michaux
    Medical Research Council, Laboratory for Molecular Cell Biology, University College London, United Kingdom
    Blood 102:2452-8. 2003
    ..We used this system to examine 3 VWF mutations leading to von Willebrand disease that affect VWF multimerization and constitutive secretion...
  38. ncbi Diagnosing von Willebrand disease: a large reference laboratory's perspective
    Dorothy M Adcock
    Esoterix, Inc, Aurora, Colorado 80014, USA
    Semin Thromb Hemost 32:472-9. 2006
    b>Von Willebrand disease (vWD) is a common bleeding disorder. Diagnosis requires the demonstration of both clinical and laboratory features consistent with this disorder...
  39. ncbi Clinical, laboratory and therapeutic aspects of platelet-type von Willebrand disease
    M Franchini
    Servizio di Immunoematologia e Trasfusione, Centro Emofilia, Azienda Ospedaliera di Verona, Verona, Italy
    Int J Lab Hematol 30:91-4. 2008
    Platelet-type von Willebrand disease (PT-VWD), or pseudo-VWD, is a rare inherited platelet disorder characterized by an increased affinity of the platelet membrane glycoprotein Ibalpha receptor for normal von Willebrand factor leading to ..
  40. ncbi von Willebrand disease in women with menorrhagia: a systematic review
    Meena Shankar
    Department of Obstetrics and Gynaecology, Royal Free Hospital, London, UK
    BJOG 111:734-40. 2004
    To determine the prevalence of von Willebrand disease in women presenting with menorrhagia.
  41. ncbi Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study
    G Castaman
    Department of Hematology, S Bortolo Hospital, Vicenza, Italy
    J Thromb Haemost 4:2164-9. 2006
    We undertook an international, multicenter study to describe the clinical picture and to estimate the bleeding risk in a group of obligatory carriers of type 3 von Willebrand disease (VWD).
  42. ncbi Reducing errors in identification of von Willebrand disease: the experience of the royal college of pathologists of australasia quality assurance program
    Emmanuel J Favaloro
    Department of Haematology, Institute of Clinical Pathology and Medical Research ICPMR, Westmead Hospital, Westmead, New South Wales, Australia
    Semin Thromb Hemost 32:505-13. 2006
    ..Asia have been conducted during the last 8 years to evaluate testing proficiency in the diagnosis of von Willebrand disease (vWD)...
  43. ncbi von Willebrand factor collagen binding assay in von Willebrand disease type 2A, 2B, and 2M
    L Baronciani
    J Thromb Haemost 4:2088-90. 2006
  44. ncbi Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance
    Mohammad S Enayat
    Department of Haematology, The Birmingham Children s Hospital NHS Trust, Birmingham, UK
    Br J Haematol 133:664-6. 2006
    Pseudo-von Willebrand disease (p-VWD) and type 2B von Willebrand disease (VWD) have similar phenotypic parameters and clinical symptoms, but different aetiologies...
  45. pmc von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib
    I Rabinowitz
    Howard Hughes Medical Institute, Washington University School of Medicine, St Louis, MO
    Proc Natl Acad Sci U S A 89:9846-9. 1992
    ..was identified within the proposed glycoprotein Ib binding domain of vWF in the proband with von Willebrand disease type B, a unique variant characterized by no ristocetin-induced, but normal botrocetin-induced, binding to ..
  46. ncbi Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations
    S E Lyons
    Program in Cellular and Molecular Biology, Howard Hughes Medical Institute, University of Michigan Medical School, Ann Arbor
    Blood 83:1551-7. 1994
    Type IIA von Willebrand disease (vWD) is an autosomal dominant bleeding disorder characterized by a qualitative defect in von Willebrand factor (vWF)...
  47. ncbi Something new about type Normandy von Willebrand disease (type 2N VWD)?
    Claudine Mazurier
    Thromb Haemost 92:1-2. 2004
  48. ncbi Can blood flow assays help to identify clinically relevant differences in von Willebrand factor functionality in von Willebrand disease types 1-3?
    J J Zwaginga
    Department of Experimental Immunohaematology, Sanquin Research, Amsterdam, The Netherlands
    J Thromb Haemost 5:2547-9. 2007
  49. ncbi Performance and clinical utility of a commercial von Willebrand factor collagen binding assay for laboratory diagnosis of von Willebrand disease
    Joanna Popov
    Coagulation Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA
    Clin Chem 52:1965-7. 2006
    b>Von Willebrand disease (VWD) diagnosis and classification usually require a combination of nonspecific and VW-factor (VWF)-specific assays...
  50. ncbi Reduced von Willebrand factor survival in type Vicenza von Willebrand disease
    Alessandra Casonato
    Department of Medical and Surgical Sciences, University of Padua Medical School, Italy
    Blood 99:180-4. 2002
    Type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers...
  51. ncbi Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease
    Antoine Hommais
    INSERM U 770, Hopital de Bicetre, Universite Paris Sud, France
    Thromb Haemost 95:776-81. 2006
    ..Accordingly, they were classified in type 2A, subtype IID, von Willebrand disease (VWD). Both asymptomatic parents carried the mutation at the heterozygous state...
  52. ncbi Composition, quality control, and labeling of plasma-derived products for the treatment of von Willebrand disease
    Claudine Mazurier
    Développement Exploratoire Hémostase Thrombose, Département de Développement Préclinique, Laboratoire français du Fractionnement et des Biotechnologies Lille, France
    Semin Thromb Hemost 32:529-36. 2006
    Different plasma-derived products have been used to treat patients affected with von Willebrand disease (vWD). To ensure optimal product selection, the purification process and viral elimination methods should be considered...
  53. ncbi Genetic defects in von Willebrand disease type 3 in Indian and Greek patients
    P K Gupta
    Department of Transfusion Medicine, Haematology Section, Armed Forces Medical College, Pune 411040, India
    Blood Cells Mol Dis 41:219-22. 2008
    b>Von Willebrand disease type 3 VWD is an autosomal-recessively inherited severe bleeding disorder with a homogeneous phenotype on the basis of very heterogeneous genotypes. Many different molecular defects have been reported to date...
  54. ncbi Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene
    Irene Corrales
    Unitat de Diagnòstic i Teràpia Molecular, Banc de Sang i Teixits, Passeig Vall d Hebron 119 129, 08035 Barcelona, Spain
    Thromb Haemost 101:570-6. 2009
    Molecular diagnosis of von Willebrand Disease (VWD) is particularly complex. The autosomal von Willebrand factor gene (VWF) is large and highly polymorphic, and there is a highly homologous (>96%) partial pseudogene in chromosome 22...
  55. ncbi Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD)
    U Budde
    Coagulation Laboratory, Hamburg, Germany
    J Thromb Haemost 6:762-71. 2008
    Type 1 von Willebrand disease (VWD) is a congenital bleeding disorder characterized by a partial quantitative deficiency of plasma von Willebrand factor (VWF) in the absence of structural and/or functional VWF defects...
  56. ncbi Type 2 A (group II) von Willebrand disease mutations increase the susceptibility of VWF to ADAMTS-13
    H M Tsai
    J Thromb Haemost 2:2057. 2004
  57. ncbi C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX
    Norma Penas
    Servicio de Hematología del Complejo Hospitalario Universitario Juan Canalejo, A Coruna, Spain
    Am J Hematol 75:73-7. 2004
    Most of type 2A von Willebrand disease (VWD) mutations are clustered within the A2 domain of VWF, encoded by the 3' region of exon 28 of the von Willebrand factor (VWF) gene...
  58. ncbi A novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers
    L A O'Brien
    Department of Pathology and Molecular Medicine, Richardson Laboratory, Queen s University, Kingston, Ontario, Canada
    J Thromb Haemost 2:1135-42. 2004
    Type 2A von Willebrand disease (VWD) is characterized by decreased platelet-dependent function of von Willebrand factor (VWF) associated with an absence of high-molecular-weight multimers...
  59. ncbi Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease
    L Baronciani
    Department of Medicine and Medical Specialties, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation and University of Milan, Milan, Italy
    J Thromb Haemost 5:282-8. 2007
    In a patient previously diagnosed with type 2A von Willebrand disease (VWD) [absence of high and intermediate molecular weight von Willebrand factor (VWF) multimers and markedly reduced ristocetin-induced platelet aggregation (RIPA)], an ..
  60. pmc Evidence-based recommendations on the treatment of von Willebrand disease in Italy
    Pier Mannuccio Mannucci
    Centro Emofilia e Trombosi Angelo Bianchi Bonomi, Dipartimento di Medicina e Specialità Mediche, Università di Milano e IRCCS Fondazione Ospedale Maggiore, Italy
    Blood Transfus 7:117-26. 2009
    b>von Willebrand disease (VWD) is the most common hereditary bleeding disorder affecting both males and females...
  61. ncbi An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease
    Anthony Cumming
    University Department of Haematology, Manchester Royal Infirmary, Manchester, UK
    Thromb Haemost 96:630-41. 2006
    ..Unless linkage of VWD phenotype with the VWF gene can be clearly demonstrated, the results of any genetic family studies should be interpreted with caution...
  62. ncbi Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD
    Giancarlo Castaman
    Department of Hematology, San Bortolo Hospital, Vicenza, Italy
    Blood 111:3531-9. 2008
    We have prospectively evaluated the biologic response to desmopressin in 77 patients with type 1 von Willebrand disease (VWD) enrolled within the Molecular and Clinical Markers for the Diagnosis and Management of type 1 VWD project...
  63. ncbi von Willebrand disease: laboratory aspects of diagnosis and treatment
    E J Favaloro
    Institute of Clinical Pathology and Medical Research, Westmead, NSW 2145, Australia
    Haemophilia 10:164-8. 2004
    b>von Willebrand disease is the most common inherited bleeding disorder in humans. VWD can be classified into three major types, designated Types 1, 2 and 3; Type 2 can be further separated into subtypes 2A, 2B, 2M and 2N...
  64. ncbi A practical approach to genetic testing for von Willebrand disease
    Rajiv K Pruthi
    Department of Internal Medicine and Division of Hematology, Special Coagulation DNA Diagnostic Laboratory, Comprehensive Hemophilia Center, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mayo Clin Proc 81:679-91. 2006
    b>von Willebrand disease (vWD) is the most commonly diagnosed congenital bleeding disorder...
  65. ncbi Restoration of plasma von Willebrand factor deficiency is sufficient to correct thrombus formation after gene therapy for severe von Willebrand disease
    Simon F De Meyer
    Laboratory for Thrombosis Research, K U Leuven Campus Kortrijk, Belgium
    Arterioscler Thromb Vasc Biol 28:1621-6. 2008
    Gene therapy for severe von Willebrand disease (vWD) seems an interesting treatment alternative with long-term therapeutic potential...
  66. ncbi Identification of von Willebrand disease type 2N (Normandy) in Australia: a cross-laboratory investigation using different methods
    Susan E Rodgers
    Haemostasis Laboratory, Haematology Division, Institute of Medical and Veterinary Science, University of South Australia, Adelaide, Australia
    Am J Clin Pathol 118:269-76. 2002
    We report on a cross-laboratory study of type 2N von Willebrand disease (vWD). We tested 101 selected plasma samples for factor VIII and factor VIII binding activity of von Willebrand factor (vWF)...
  67. ncbi Genetic testing for von Willebrand disease: the Canadian experience
    Paula James
    Department of Medicine, Queen s University, Kingston, Canada
    Semin Thromb Hemost 32:546-52. 2006
    b>Von Willebrand disease (vWD) is the most common inherited bleeding disorder in humans, but its diagnosis, using clinical criteria and phenotypic hemostasis test results, can be problematic...
  68. ncbi Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13
    J Rayes
    Inserm U770 and Universite Paris Sud, Faculté de Médecine IFR93, Le Kremlin Bicetre, France
    J Thromb Haemost 5:321-8. 2007
    b>von Willebrand disease (VWD) type 2 is associated with mutations in von Willebrand factor (VWF) that affect its secretion, multimeric pattern, affinity for platelet receptors and clearance of the protein...
  69. ncbi Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins
    I Bodo
    Howard Hughes Medical Institute and the Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Blood 98:2973-9. 2001
    Some families affected by von Willebrand disease type 1 show high penetrance with exceptionally low von Willebrand factor (VWF) levels...
  70. ncbi Women and von Willebrand disease: controversies in diagnosis and management
    Rezan A Kadir
    Department of Obstetrics Gynaecology, Royal Free Hospital, London, UK
    Semin Thromb Hemost 32:605-15. 2006
    b>von Willebrand disease (vWD) is the commonest bleeding disorder in women. More than 70% of women with vWD suffer from menorrhagia and half of them suffer from dysmenorrhea...
  71. ncbi New concepts in von Willebrand disease
    J Evan Sadler
    Howard Hughes Medical Institute, Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Annu Rev Med 56:173-91. 2005
    ..Too little platelet adhesion causes bleeding that is typical of von Willebrand disease, whereas too much platelet adhesion may cause thrombotic thrombocytopenic purpura...
  72. ncbi Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study
    Augusto B Federici
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Dermatology, IRCCS Maggio e Hospital and University of Milan, Italy
    Blood 103:2032-8. 2004
    ..evaluated the rate of biologic response to desmopressin (DDAVP) in 66 patients with type 1 or 2 von Willebrand disease (VWD), each of whom had, on the basis of available records, a clinically significant bleeding history and ..
  73. ncbi Rational use of the PFA-100 device for screening of platelet function disorders and von Willebrand disease
    Y Buyukasik
    Department of Hematology, Hacettepe University Medical School, Ankara, Turkey
    Blood Coagul Fibrinolysis 13:349-53. 2002
    ..6%) and negative (91.6%) predictivity values for screening of platelet function disorders and von Willebrand disease (vWD). All patients with vWD and Glanzmann thrombasthenia could be detected by PFA-100...
  74. ncbi Identification of a candidate missense mutation in a family with von Willebrand disease type IIC
    R Schneppenheim
    Universitäts Kinderklinik Kiel, Germany
    Hum Genet 95:681-6. 1995
    A screening project to identify candidate molecular defects causing von Willebrand disease type IIC (VWD IIC) in a German family was carried out using polymerase chain reaction (PCR) amplification of all 52 exons of the von Willebrand ..
  75. ncbi von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA)
    W L Nichols
    Special Coagulation Laboratory, Division of Hematopathology, Department of Laboratory Medicine and Pathology, College of Medicine, Mayo Clinic, Rochester, MN, USA
    Haemophilia 14:171-232. 2008
    b>von Willebrand disease (VWD) is a commonly encountered inherited bleeding disorder affecting both males and females, causing mucous membrane and skin bleeding symptoms, and bleeding with surgical or other haemostatic challenges...
  76. ncbi The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study
    Paula D James
    Department of Medicine, Queen s University, Kingston, ON, Canada K7L 3N6
    Blood 109:145-54. 2007
    In order to evaluate the changes within the VWF gene that might contribute to the pathogenesis of type 1 von Willebrand disease (VWD), a large multicenter Canadian study was undertaken...
  77. ncbi Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations
    Jeffrey J Sutherland
    Department of Chemistry, Queen s University, K7L 3N6, Kingston, Ontario, Canada
    J Mol Model 10:259-70. 2004
    ..structural and dynamic effects of eight mutations introduced into the model, all associated with type 2A von Willebrand disease. It was found that the group I mutations G1505R, L1540P and S1506L cause significant deviations over ..
  78. ncbi Impact of plasma von Willebrand factor levels in the diagnosis of type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1VWD)
    A Tosetto
    San Bortolo Hospital, Vicenza, Italy
    J Thromb Haemost 5:715-21. 2007
    ..symptoms, inheritance and reduced von Willebrand factor (VWF) contribute to the diagnosis of type 1 von Willebrand disease (VWD)...
  79. ncbi An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees
    T J Kunicki
    Department of Molecular and Experimental Medicine, The Division of Experimental Hemostasis and Thrombosis, The Scripps Research Institute, La Jolla, CA 92037, USA
    J Thromb Haemost 4:137-47. 2006
    ..the association of bleeding severity with candidate gene haplotypes within pedigrees of 11 index cases of von Willebrand disease (VWD) type 2 (two type 2A, three type 2B and six type 2M), using the QTL Association model (MENDEL 5.5)...
  80. ncbi Response of von Willebrand factor parameters to desmopressin in patients with type 1 and type 2 congenital von Willebrand disease: diagnostic and therapeutic implications
    Jan J Michiels
    Department of Hematology, University Hospital Antwerp, Belgium, The Netherlands
    Semin Thromb Hemost 28:111-32. 2002
    ..and the response to intravenous desmopressin (DDAVP) to correctly diagnose and classify congenital von Willebrand disease (CvWD) in 24 probands with mild to moderate type 1 vWD, 6 probands with severe CvWD type 1, and 12 ..
  81. ncbi Comparison of PFA-100 testing and bleeding time for detecting platelet hypofunction and von Willebrand disease in clinical practice
    Emoke Posan
    Visiting Scientist from University of Debrecen, Faculty of Medicine, 2nd Department of Medicine, Debrecen, Hungary
    Thromb Haemost 90:483-90. 2003
    ..testing performance in clinical practice, by comparing the PFA-100 to the BT for the identification of von Willebrand disease (VWD) and intrinsic platelet hypofunction...
  82. ncbi Laboratory identification of von Willebrand disease: technical and scientific perspectives
    Emmanuel J Favaloro
    Department of Haematology, Institute of Clinical Pathology and Medical Research ICPMR, Westmead Hospital, Westmead, New South Wales, Australia
    Semin Thromb Hemost 32:456-71. 2006
    The correct diagnosis and classification of von Willebrand disease (von Willebrand disorder; vWD) is crucial because the presenting biological activity of von Willebrand factor (vWF) determines both the hemorrhagic risk and subsequent ..
  83. ncbi Venous thromboembolism in von Willebrand disease
    P M Mannucci
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Department of Internal Medicine, IRCCS Maggiore Hospital and University of Milan, Italy
    Thromb Haemost 88:378-9. 2002
  84. ncbi Insights from von Willebrand disease animal models
    C V Denis
    The Center for Blood Research and Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Cell Mol Life Sci 56:977-90. 1999
    b>von Willebrand disease is a genetic bleeding disorder that arises from abnormalities in von Willebrand factor, an adhesive glycoprotein involved in both primary hemostasis and coagulation...
  85. ncbi A molecular approach to the classification of von Willebrand disease
    R Schneppenheim
    Department of Paediatric Haematology and Oncology, University Hospital Hamburg, Martinistrasse 52, D-20246 Hamburg, Germany
    Best Pract Res Clin Haematol 14:281-98. 2001
    The marked heterogeneity of von Willebrand disease was already recognized by von Willebrand in 1926...
  86. ncbi Long-term prophylaxis in von Willebrand disease
    Erik Berntorp
    Department of Coagulation Disorders, Lund University and Malmö University Hospital, Malmo, Sweden
    Blood Coagul Fibrinolysis 16:S23-6. 2005
    The majority of patients with von Willebrand disease (VWD) have a mild bleeding tendency that primarily involves mucosal bleeding...
  87. ncbi Efficacy and safety of the factor VIII/von Willebrand factor concentrate, haemate-P/humate-P: ristocetin cofactor unit dosing in patients with von Willebrand disease
    D Lillicrap
    Department of Pathology, Queen s University, Kingston, Ontario, Canada
    Thromb Haemost 87:224-30. 2002
    ..complex [human] dried, pasteurized) dosed in ristocetin cofactor units (VWF:RCo) in the treatment of von Willebrand disease (VWD) patients in Canada...
  88. ncbi The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study
    F Rodeghiero
    Hematology Department, S Bortolo Hospital, Vicenza, Italy
    J Thromb Haemost 3:2619-26. 2005
    The aim of this study was the validation of the criteria defining a significant mucocutaneous-bleeding history in type 1 von Willebrand disease (VWD).
  89. ncbi Management of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization
    K J Pasi
    Department of Haematology, Barts and The London, Queen Mary s School of Medicine and Dentistry, London, UK
    Haemophilia 10:218-31. 2004
    b>von Willebrand disease (VWD) is the commonest inherited bleeding disorder...
  90. ncbi Rhabdomyolysis, renal failure, pericardial effusion, and acquired von Willebrand disease resulting from hypothyroidism in a 10-year-old girl
    Assimina Galli-Tsinopoulou
    4th Department of Paediatrics, Medical School, Aristotle University of Thessaloniki, Greece
    Thyroid 18:373-5. 2008
    ..uncommon manifestations of hypothyroidism such as pericardial effusion, acute renal failure, and acquired von Willebrand disease. After thyroxine replacement, the symptoms and abnormal findings disappeared...
  91. ncbi Characterization of a novel mutation in the von Willebrand factor propeptide in a distinct subtype of recessive von Willebrand disease
    Elsa Lanke
    Department for Coagulation Disorders, University Hospital, Malmo, Sweden
    Thromb Haemost 100:211-6. 2008
    ..Genetic studies were performed in a patient with a phenotype of von Willebrand disease (VWD) characterized by very low plasma factor VIII and VWF levels and a VWF consisting of only a dimeric ..
  92. ncbi Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor
    J C Eikenboom
    Department of Hematology, University Hospital, Leiden, The Netherlands
    Blood 88:2433-41. 1996
    No defects have been reported in moderately severe type 1 von Willebrand disease (vWD) with a clear autosomal dominant inheritance pattern, and the mechanism underlying this form of vWD remains obscure...
  93. pmc A phase II prospective open-label escalating dose trial of recombinant interleukin-11 in mild von Willebrand disease
    M V Ragni
    Department of Medicine Hematology Oncology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
    Haemophilia 14:968-77. 2008
    ..von Willebrand factor (VWF) is a multimeric glycoprotein that mediates platelet adhesion and is decreased in von Willebrand disease (VWD)...
  94. pmc Correction of a murine model of von Willebrand disease by gene transfer
    Robert G Pergolizzi
    Department of Genetic Medicine, Weill Medical College of Cornell University, 515 E 71st St, New York, NY 10021, USA
    Blood 108:862-9. 2006
    b>von Willebrand disease (VWD), the most common inherited bleeding disorder in the U.S...
  95. ncbi Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease
    Maha Othman
    Department of Pathology and Molecular Medicine, Queens University, Kingston, ON, Canada
    Blood 105:4330-6. 2005
    ..Platelet-type von Willebrand disease (PT-VWD) is a rare bleeding disorder that results from gain-of-function mutations in the GPIBA gene...
  96. pmc Protein replacement therapy and gene transfer in canine models of hemophilia A, hemophilia B, von willebrand disease, and factor VII deficiency
    Timothy C Nichols
    Department of Pathology, Francis Owen Blood Research Laboratory, Laboratory Medicine at the University of North Carolina at Chapel Hill, NC 27516 3114, USA
    ILAR J 50:144-67. 2009
    Dogs with hemophilia A, hemophilia B, von Willebrand disease (VWD), and factor VII deficiency faithfully recapitulate the severe bleeding phenotype that occurs in humans with these disorders...
  97. ncbi Clinical diagnosis of von Willebrand disease
    A B Federici
    Angelo Bianchi Bonomi Haemophilia Thrombosis Center, Department of Internal Medicine and Dermatology, IRCCS Maggiore Hospital and University of Milan, 20122 Milan, Italy
    Haemophilia 10:169-76. 2004
    b>von Willebrand disease (VWD) is the most frequent inherited bleeding disorder and is caused by quantitative (Types 1 and 3) or qualitative (Type 2) defects of von Willebrand factor (VWF)...
  98. ncbi Causes, etiology and diagnosis of acquired von Willebrand disease: a prospective diagnostic workup to establish the most effective therapeutic strategies
    Christoph Sucker
    LaboMed Coagulation Center Berlin, Tauentzienstrasse 7 b c, Berlin, Germany
    Acta Haematol 121:177-82. 2009
    Acquired von Willebrand disease (aVWD) occurs in association with a variety of underlying disorders, most frequently in lymphoproliferative and myeloproliferative disorders, other malignancies, and cardiovascular disease...
  99. ncbi Does an enzyme other than thrombin contribute to unexpected changes in the levels of the different forms of thrombin activatable fibrinolysis inhibitor in patients with hemophilia A, hemophilia B and von Willebrand disease?
    J P Antovic
    Coagulation Research, Department of Surgical Sciences, Karolinska University Hospital, Stockholm, Sweden
    Scand J Clin Lab Invest 64:745-51. 2004
    ..levels were measured in 32 patients with hemophilia A, 4 patients with hemophilia B, 21 patients with von Willebrand disease (VWD) and 13 healthy controls...
  100. pmc Platelet dysfunction and a high bone mass phenotype in a murine model of platelet-type von Willebrand disease
    Larry J Suva
    Department of Physiology and Biophysics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
    Am J Pathol 172:430-9. 2008
    ..receptor to interact with soluble von Willebrand factor, and this is the molecular basis of platelet-type von Willebrand disease. We have developed and characterized a mouse model of platelet-type von Willebrand disease (G233V) and ..
  101. ncbi Subcutaneous immunoglobulin therapy in an 11-year-old patient with common variable immunodeficiency and von Willebrand disease
    Rajiv Arora
    Department of Allergy Immunology, Walter Reed Army Medical Center, Washington, DC 20307, USA
    Ann Allergy Asthma Immunol 99:367-70. 2007
    ..Subcutaneous immunoglobulin (SCIG) is an option for replacement therapy in patients with humoral immune deficiencies...

Research Grants62

  1. TRANSGENIC ANALYSIS OF PLATELET RECEPTOR EXPRESSION
    Jerry Ware; Fiscal Year: 2012
    ..We present an animal model of platelet-type von Willebrand disease (Pt-vWD) to test the hypothesis that Pt-vWD mimics GP Ib-IX blockade and presents neoepitopes, analogous ..
  2. Prevention of the Complications of Hemophilia Thru Hemophilila Treatment Centers
    MD WALSH; Fiscal Year: 2010
    ..HTC's are designed to treat patients with hemophilia A and B, von Willebrand Disease and rare factor deficiencies...
  3. Single molecule measurements on von Willebrand factor A1 and A2 domains
    Timothy A Springer; Fiscal Year: 2013
    ..Mutations in VWF in von Willebrand disease (VWD) are the most common cause of heritable bleeding disorders...
  4. Molecular Genetic Study of von Willebrand Factor
    David Ginsburg; Fiscal Year: 2013
    ..Deficiencies of VWF result in the most common inherited bleeding disorder in humans, von Willebrand disease (VWD)...
  5. Model of Platelet Adhesion and Thrombus Formation
    Michael R King; Fiscal Year: 2013
    ..adhesion model will be applied to the prediction of clinical observations of defects in hemostasis such as von Willebrand disease (VWD), the most common inheritable bleeding disorder in humans...
  6. Development of normal and dystrophic canine iPS lines
    COLIN EDWARD BISHOP; Fiscal Year: 2010
    ..These include von Willebrand disease, severe combined immunodeficiency disorder, X-linked Duchenne type muscular dystrophy, pyruvate kinase ..
  7. Feasibility of the Von Willebrand Disease Minimize Trial
    MARGARET VICTORIA RAGNI; Fiscal Year: 2013
    ..acid (TA), the current recommended non-hormonal treatment, to reduce menorrhagia in women with type 1 von Willebrand disease (VWD). In this planning grant, we will establish the feasibility of conducting a Phase III (R01) trial...
  8. Fluorescence Fluctuation Spectroscopy for von Willebrand Factor Multimer Analysis
    Michael J Levene; Fiscal Year: 2010
    ..the evaluation of von Willebrand Factor (vWF) multimers as a more accurate and reproducible technique in von Willebrand Disease (vWD) diagnosis, classification, and monitoring, for elucidating specifics about the pathogenetic ..
  9. Regulation of Platelet Glycoprotein (GP) Ib-IX Complex Function by Membrane Lipid
    Yuandong Peng; Fiscal Year: 2013
    ..Amalfunction in this interaction causes either Bernard-Soulier Syndrome (BSS) or platelet-type von Willebrand disease (VWD)...
  10. Von Willebrand Factor Multimer Assembly and Structure
    J Evan Sadler; Fiscal Year: 2012
    ..of VWF requires the largest multimers, and inability to assemble them causes bleeding associated with von Willebrand disease. Conversely, ADAMTS13, a metalloprotease, cleaves VWF multimers at sites of thrombosis, and ADAMTS13 ..
  11. Hemophilia Adult Prophylaxis Study
    MARGARET VICTORIA RAGNI; Fiscal Year: 2012
    ..and planning of this concept through participation in the NHLBI State of the Science (SoS) Hemophilia and Von Willebrand Disease Subcommittee;and 2) setting up an infrastructure of 47+ HTC physicians to reach consensus on study design, ..
  12. BIOMECHANICS OF UNFOLDING THE A2 DOMAIN OF VON WILLEBRAND FACTOR
    Jin Yu Shao; Fiscal Year: 2012
    ..a disease characterized by microvascular thrombosis;on the other hand, excessive cleavage of VWF leads to Von Willebrand disease, a potentially-fatal bleeding disorder manifested by lack of large VWF multimers in plasma...
  13. Region VII Hemophilia Program
    Brian M Wicklund; Fiscal Year: 2010
    ..regional project looks at the hypothesis that with increased physical activity, persons with hemophilia or von Willebrand disease will have fewer complications...
  14. Prevention of the Complications of Bleeding Disorder Through HTCs
    Paul E Monahan; Fiscal Year: 2010
    ..Hemophilia patients constitute 61.5% of the total patients, while 27.6% have von Willebrand disease and 10.9% have other bleeding disorders. In 2005, there were 380 active female patients, an increase of 25...
  15. Effects of Hibernation on Hemostasis in 13-lined Ground Squirrels
    Scott T Cooper; Fiscal Year: 2012
    ..RELEVANCE: This research may lead to medical advances to prevent blood clots, store human platelets in the cold, regulate blood clotting in cases of accidental or induced hypothermia, and treat hemophilia B or von Willebrand disease.
  16. Prevention of the Complications of Bleeding Through HTCs
    SANDRA LAMPMAN; Fiscal Year: 2010
    ..b. Hemorrhagic and vascular complications of von Willebrand disease. c...
  17. Clinical Hematology Research Career Development Program at Washington University
    J Evan Sadler; Fiscal Year: 2013
    ..and cellular therapies using hematopoietic stem cells;(2) hemostatic and thrombotic disorders, including von Willebrand disease, thrombotic microangiopathy, and other congenital or acquired hemorrhagic or thrombotic syndromes;and (3) ..
  18. Functional Implications of VWF A1 Domain Polymorphisms
    Veronica H Flood; Fiscal Year: 2013
    ..VWF activity on functional testing with ristocetin, to ensure that patients are not misdiagnosed with von Willebrand disease (VWD) on the basis of spurious laboratory testing results...
  19. Prevention of the Complications of Bleeding Disorders Through HTCS
    Regina Butler; Fiscal Year: 2010
    ..is an inherited bleeding disorder resulting from a deficiency of coagulation factor VIII or factor IX and von Willebrand Disease (VWD) is an inherited bleeding disorder resulting from decreased or abnormal von Willebrand protein...
  20. Structural bases of ADAMTS-13 and VWF A2 interactions
    Cheng Zhu; Fiscal Year: 2013
    ..Malfunction in the interactions may lead to von Willebrand disease and thrombotic thrombocytopenic purpura...
  21. MAINTENANCE OF ANIMAL MODELS OF HUMAN HEMOPHILIA AND VWD
    TIMOTHY CHARLES NICHOLS; Fiscal Year: 2013
    ..The purpose of this resource grant is to maintain and create dogs with hemophilia A, hemophilia B, von Willebrand disease (VWD), and FVII deficiency for independent and collaborative research...
  22. Region V-East HTC Network for the Prevention of Bleeding Disorders Complications
    IVAN C HARNER; Fiscal Year: 2010
    ..to continue to characterize sub-populations, including hemophilia A and B, women with bleeding disorders, von Willebrand disease, and rare bleeding disorders...
  23. Thermodynamics of the Conformational Activation of Von Willebrand Factor
    Matthew Auton; Fiscal Year: 2013
    ..extensive study because of its association with the most common inherited bleeding disorder in man, Von Willebrand Disease (VWD)...
  24. Regulation of von Willebrand Factor - platelet binding by Force and Interdomain I
    Wendy E Thomas; Fiscal Year: 2013
    ..be tested is that conditions that increase the spontaneous binding of platelets to VWF, including type 2B von Willebrand disease, do so by damaging the normal interdomain auto-inhibition...
  25. Preventing Bleeding Disorder Complications thru Hemophilia Tx Ctrs in Region IX
    Diane J Nugent; Fiscal Year: 2010
    ..and management services for people of all ages and racial/ethnic backgrounds who have hemophilia, von Willebrand Disease and other inherited bleeding and clotting disorders in our catchment area that are directed at attaining ..
  26. Enabling Structural Studies of Force Activated Adhesion Complexes
    MARK ALAN BLENNER; Fiscal Year: 2012
    ..will (5) Crystallize the extended-state complex for structural elucidation and comparison to wild-type and Von Willebrand Disease mutants...
  27. Prevention of the Complications of Bleeding Disorders
    DOREEN B BRETTLER; Fiscal Year: 2010
    ..and observations of individuals with bleeding disorders including hemophilia A and Hemophilia B, von Willebrand disease, rare bleeding disorders, and women with bleeding disorders: (2) transition from paper submission of data ..
  28. Structural studies of blood coagulation proteins
    Barry Stoddard; Fiscal Year: 2006
    ..with mutations in factor VIII (hemophilia A), factor IX (hemophilia B) and von Willebrand Factor (von Willebrand Disease)...
  29. MOLECULAR GENETICS OF HUMAN PLATELET GLYCOPROTEINS
    Jose Lopez; Fiscal Year: 2000
    ..2) the region between Asp-225 and Thr-240 that contains the gain-of-function mutations of platelet-type von Willebrand disease; and 3) the leucine-rich repeat region that contains seven tandem repeats of a sequence also present in ..
  30. DEVELOPMENT OF A SYNTHETIC VON WILLEBRAND FACTOR
    Dennis Lynch; Fiscal Year: 1992
    b>von Willebrand disease (vWD-the second most common inherited bleeding disorder) is associated with quantitative and qualitative abnormalities in von Willebrand factor (vWF)...
  31. AN INDISPENSABLE RESOURCE FOR THE STUDY OF NARCOLEPSY
    William Dement; Fiscal Year: 1993
    ..g., von Willebrand Disease, hypothyroidism, familial glomerulonephropathy)...
  32. Biosynthetic and Functional Consequences of von Willebrand Disease Mutations
    JOSE ARON LOPEZ; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Von Willebrand disease (VWD) is the most prevalent bleeding disorder in the world, affecting approximately 1% of the human population. It is divided into three general categories, types 1, 2 and 3...
  33. BLOOD COAGULATION--PLATELET-PLASMA PROTEIN INTERACTION
    ZAVERIO RUGGERI; Fiscal Year: 1990
    b>von Willebrand disease (vWd) subtypes with different structural abnormalities of von Willebrand factor (vWf) have been identified and a vWf tryptic peptide has been isolated which contains the platelet GPIb binding domain...
  34. Role of Platelet Integrin a2b1 in von Willebrand Disease
    Jorge DiPaola; Fiscal Year: 2005
    DESCRIPTION (provided by applicant) Von Willebrand Disease (vWD) is characterized by mucosal bleeding...
  35. INTRINSIC SYSTEM CLOTTING: STRUCTURE AND FUNCTION
    Arthur Thompson; Fiscal Year: 1993
    ..IX to VIII and von Willebrand factor to develop rapid immunoassays for carrier testing in hemophilia A and von Willebrand disease. Attempts will be made to prepare antibodies specific for factor IXa...
  36. MOLECULAR GENETIC STUDY OF VONWILLEBRAND FACTOR
    David Ginsburg; Fiscal Year: 2010
    von Willebrand factor (VWF) is a central protein in hemostasis. Abnormalities in VWF result in von Willebrand disease (VWD), the most common inherited bleeding disorder in humans...
  37. DISULFIDE STRUCTURE OF BIOMEDICALLY IMPORTANT PROTEINS
    JACK WATSON; Fiscal Year: 2004
    ..The common bleeding disorder, von Willebrand Disease, appears to be related to a defect in the disulfide bonding pattern among 18 cysteines (including two ..
  38. BIOSYNTHESIS OF VON WILLEBRAND FACTOR BY ENDOTHELIUM
    Bruce Ewenstein; Fiscal Year: 1990
    ..in endothelial cell biosynthetic and secretory events may constitute the basic lesions in many forms of von Willebrand disease. I therefore propose to study VWF biosynthesis, storage, and secretion in normal and VWD-derived cultured ..
  39. Genetics of Von Willebrand Disease Type 1
    JAMES RIDDEL; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): Von Willebrand Disease (vWD) type 1 is the most common form of vWD, accounting for as much as 80% of reported cases. With prevalence estimates as high as 1...
  40. An endothelial-specific switch in gene expression.
    JILL JOHNSEN; Fiscal Year: 2004
    The inbred mouse strain RIIIS/J is a model for type 1 von Willebrand Disease (VWD), the most common bleeding disorder in humans...
  41. STRUCTURAL ORGANIZATION OF VON WILLEBRAND FACTOR
    Kenneth Walsh; Fiscal Year: 1992
    ..We expect to provide a molecular basis for understanding a wide range of variations collectively described as von Willebrand disease.
  42. MOLECULAR BIOLOGY OF COLLAGEN RECEPTORS
    Thomas Kunicki; Fiscal Year: 2004
    ..The successful completion of the proposed studies will lead to a substantial increase in our understanding of the genetics and physiology of the platelet collagen receptor, GPVI. ..
  43. Molecular Genetics of Integrin Collagen Receptors
    Thomas Kunicki; Fiscal Year: 2007
    ..of both species; and 3) To correlate inheritance of ITGA2 haplotypes with risk for symptomatic bleeding in von Willebrand Disease (VWD)...
  44. INTEGRATIVE APPROACH TO CORONARY THROMBOSIS
    Robert Montgomery; Fiscal Year: 2001
    ..This proposal offers a unique integrative approach to further our understanding of coronary pathophysiology and the role of the GPIba receptor, based on a detailed understanding of function both in vivo and in vitro. ..
  45. Initiation and Regulation of Platelet Thrombus Formation
    ZAVERIO RUGGERI; Fiscal Year: 2004
    ..The results of the proposed studies will have an impact on public health by providing novel mechanistic information on processes that are central to normal hemostasis and pathological arterial thrombosis. ..
  46. Mechanisms of Thrombus Instability
    ZAVERIO RUGGERI; Fiscal Year: 2007
    ..These studies will provide novel insights into the unexpected role of leptin in platelet function, and in the formation and stability of thrombi. ..
  47. Structure and Function of the VWF Propeptide
    Robert Montgomery; Fiscal Year: 2007
    ..of the full proVWF molecule and initial studies will be undertaken using plasmid and viral vectors to induce VWF synthesis, multimerization, storage, and release in cells and animals deficit in VWF synthesis [unreadable] [unreadable]..
  48. Role of von Willebrand Factor in Platelet Thrombus Formation
    Zaverio M Ruggeri; Fiscal Year: 2010
    ..Understanding these different functions requires addressing structural details as well as verification of concepts in intravidal models. This will lead to a better diagnosis and treatment for cardio- and cerebro-vascular diseases. ..
  49. Structure and function of platelet membrane glycoproteins
    ZAVERIO RUGGERI; Fiscal Year: 2008
    ..abstract_text> ..
  50. Platelet interactions with vessel wall components
    ZAVERIO RUGGERI; Fiscal Year: 2005
    ..These findings will provide a better definition and characterization of several potential targets for antithrombotic intervention that may yield new treatments for patients at risk of cardiovascular and cerebrovascular events. ..
  51. Inhibitors of ADAMTS313 and Outcome of TTP
    Han Mou Tsai; Fiscal Year: 2004
    ..abstract_text> ..
  52. Functional Tissue Factor on Activated Endothelium
    Eric Grabowski; Fiscal Year: 2004
    ....
  53. Expression of Myomesin and SLIM1 in Heart Failure
    Fen Lai Tan; Fiscal Year: 2004
    ..abstract_text> ..
  54. Age Dependent Thrombotic Risk Factors in Heparin-induced Thrombocytopenia
    Barbara Konkle; Fiscal Year: 2008
    ..This should improve the outcome of patients needing blood thinning with the medication heparin. ..
  55. Procoagulants in Aging CARDIA Participants
    David Green; Fiscal Year: 2009
    ....
  56. ADAMTS13 Deficiency in TTP
    Han Mou Tsai; Fiscal Year: 2008
    ..abstract_text> ..
  57. BSSVE for Multi-Dimensional Blood Velocity Measurement
    CATERINA GALLIPPI; Fiscal Year: 2004
    ..2 million possible in the United States and $US32 million possible in the world-wide ultrasound market. ..
  58. Therapeutic-Expression of a Platelet-Specific Integrin
    DAVID ALLEN WILCOX; Fiscal Year: 2010
    ..This study should lead to the development of safe and effective methods for human gene therapy for inherited platelet bleeding disorders and other diseases of hemostasis. ..
  59. PROGENITORS FOR ERYTHROCYTIC & MEGAKARYOCYTIC LINEAGES
    WILLIAM SLAYTON; Fiscal Year: 2003
    ..Slayton's research progress. In this rich and supportive environment, Dr. Slayton will gain the experience necessary to contribute to the understanding of the early cellular and molecular events in megakaryopoiesis. ..
  60. 2002 Gordon Research Conference on Hemostasis
    David Ginsburg; Fiscal Year: 2002
    ..The extensive interactions and discussion that will occur at this conference will help identify new areas and directions for future research...
  61. Induction of Tissue Factor by Patient Sera in HUS
    Eric Grabowski; Fiscal Year: 2007
    ..A key additional feature of this proposal is the use of our newly formed collaborative group of pediatric nephrologists to facilitate patient recruitment [unreadable] [unreadable]..