2B or not 2B? Differential identification of type 2B, versus pseudo-, von Willebrand disease ? response to Whalley and Perry
نویسندگان
چکیده
منابع مشابه
Thrombocytopathy and type 2B von Willebrand disease.
The knowledge gained from "experiments of nature" has always been paramount in identifying key players in pathophysiologic pathways. This is well characterized by naturally occurring bleeding and thrombotic disorders. In most cases, it is the absence of a particular protein that leads to recognition of its importance for normal physiology. On the other hand, gain-of-function mutations highlight...
متن کاملSevere thrombocytopenia, type 2B von Willebrand disease and pregnancy.
VON Willebrand’s Disease (vWD) is the most common inherited bleeding disorder in humans with an estimated incidence as high as 2–3% in the general population. Characterized by abnormal platelet interactions with the subendothelium or other platelets, the disease is caused by changes in the multimeric glycoprotein, von Willebrand’s Factor (vWF). Types 1 and 3 vWD are associated with relative or ...
متن کاملApoptotic Platelet Events Are Not Observed in Severe von Willebrand Disease-Type 2B Mutation p.V1316M
Thrombocytopenia and increased platelet clearance observed in von Willebrand disease-type 2B (VWD-2B) may be explained by platelet apoptosis triggered by the constitutive binding of VWF to its receptor, glycoprotein Ib (GPIb). Apoptosis was assessed in platelets from two patients with a severe VWD-2B mutation VWF/p.V1316M and from mice transiently expressing VWF/p.V1316M. We now report that the...
متن کاملComparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets.
von Willebrand factor (vWF) is a multimeric glycoprotein that forms an adhesive link following vascular injury between the vessel wall and its primary ligand on the platelet surface, glycoprotein Ib (GpIb). Type 2b von Willebrand disease (vWD) is a qualitative form of vWD resulting from enhanced binding of vWF to platelets. Molecular characterization of the vWF gene in patients with type 2b vWD...
متن کاملA genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation
von Willebrand disease (VWD)-type 2B is characterized by gain-of-function mutations in the von Willebrand factor (VWF) A1-domain, leading to increased affinity for its platelet-receptor, glycoprotein Ibα. We engineered the first knock-in (KI) murine model for VWD-type 2B by introducing the p.V1316M mutation in murine VWF. Homozygous KI-mice replicated human VWD-type 2B with macrothrombocytopeni...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2007
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.2006.06412.x