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The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.
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. We presentExpand
Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.
To date, no dominant mutation has been identified in a significant proportion of patients with type 1 von Willebrand disease (VWD). In this study, we examined 70 families as part of the Canadian TypeExpand
The Factor VIII acute phase response requires the participation of NFkappaB and C/EBP.
Coagulation Factor VIII is an acute phase protein in humans that has recently been shown to be transcriptionally responsive to interleukin-6. In this study, we have demonstrated that the human FactorExpand
The C-type lectin receptor CLEC4M binds, internalizes, and clears von Willebrand factor and contributes to the variation in plasma von Willebrand factor levels.
Genetic variation in or near the C-type lectin domain family 4 member M (CLEC4M) has been associated with plasma levels of von Willebrand factor (VWF) in healthy individuals. CLEC4M is a lectinExpand
Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study.
TLDR
This is the first large international study to investigate the occurrence of PT-VWD and type 2B VWD worldwide and to evaluate DNA analysis as a diagnostic tool for a large cohort of patients. Expand
Influence of a GT repeat element on shear stress responsiveness of the VWF gene promoter
Summary.  Background: Plasma von Willebrand factor (VWF) is mainly derived from endothelial cells, cells that express a large repertoire of genes that are transcriptionally regulated by fluid shearExpand
ADAMTS13 cleavage efficiency is altered by mutagenic and, to a lesser extent, polymorphic sequence changes in the A1 and A2 domains of von Willebrand factor
The multimeric plasma protein von Willebrand factor (VWF) is regulated in size by its protease, ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, member 13). Y1605‐M1606Expand
Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models.
Type 1 VWD is the mild to moderate reduction of VWF levels. This study examined the mechanisms underlying 2 common type 1 VWD mutations, the severe R1205H and more moderate Y1584C. In vitroExpand
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.
Interaction between the platelet glycoprotein Ibalpha (GPIbalpha) receptor and its adhesive ligand von Willebrand factor (VWF) has a critical role in the process of hemostasis. Platelet-type vonExpand
Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study
Summary.  Background/methods: In order to better characterize the genotype–phenotype correlation in type 2M von Willebrand disease (VWD), we sequenced the coding region for the mature subunit of theExpand
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