Molecular mechanism and classification of von Willebrand disease.
The characterization of mutations in von Willebrand disease provides useful insight into the synthesis, structure, and function of von Willebrand factor. This growing body of information has prompted a reclassification of vWD types that is intended to reflect distinct pathophysiologic mechanisms. Despite this apparent progress, many aspects of vWF biology and pathophysiology remain poorly understood. These include the mechanism by which binding of vWF to platelets is induced at sites of vascular injury, and the factors that influence the likelihood of bleeding symptoms in patients with vWD type 1.
Sadler
J E
JE
Howard Hughes Medical Institute, Department of Medicine, Jewish Hospital of St. Louis, Washington University School of Medicine, MO 63110, USA.
Matsushita
T
T
Dong
Z
Z
Tuley
E A
EA
Westfield
L A
LA
D000483:Alleles; D005169:Factor VIII / Q000378:metabolism; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D010973:Platelet Adhesiveness; D011485:Protein Binding; D011487:Protein Conformation; D014842:von Willebrand Diseases / Q000097:blood / Q000145:classification* / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics* / Q000378:metabolism
D014841:von Willebrand Factor; D005169:Factor VIII