OMIA 001056-9913 : Von Willebrand disease, generic in Bos taurus

In other species: dog , domestic cat , horse , pig , rabbit

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 177820 (trait) , 193400 (trait) , 231200 (trait) , 277480 (trait) , 314560 (trait) , 613160 (gene)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: The von Willebrand factor (vWF) is a large multimeric plasma glycoprotein required for platelet adhesion and aggregation. A deficiency or defective vWF results in von Willebrand disease (vWD). vWD are often classified in 3 different types based on the clinical severity and quantity and multimere size of von Willebrand factor. Type I is characterized by low plasma vWF concentrations and mild to moderate bleeding symptoms. Type II disorder is characterised by qualitative abnormalities of the vWF protein and moderate to severe bleeding. Type III is the most severe form of vWD with no detectable or a severe quantitative deficiency of vWF.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
1996 Janel, N., Schibler, L., Oustry, A., Kerbiriounabias, D., Cribiu, E.P., Vaiman, D. :
The localization of the von Willebrand factor gene on cattle, sheep and goat chromosomes illustrates karyotype evolution in mammals Mammalian Genome 7:633-634, 1996. Pubmed reference: 8678996.
1995 Janel, N., Schwachtgen, J.L., Bakhshi, M.R., Barek, L., Meyer, D., Kerbiriounabias, D. :
Comparison of the 5'-FLANKING sequences of the human and bovine von willebrand factor-encoding genes reveals alternation of highly homologous domains with species-specific alu-type repeats Gene 167:291-295, 1995. Pubmed reference: 8566794.
Takagi, J., Aoyama, T., Ueki, S., Ohba, H., Saito, Y., Lorand, L. :
Identification of factor-xiiia-reactive glutaminyl residues in the propolypeptide of bovine von willebrand factor European Journal of Biochemistry 232:773-777, 1995. Pubmed reference: 7588715.
1992 Takagi, J., Asai, H., Saito, Y. :
A Collagen/Gelatin-Binding Decapeptide Derived from Bovine Propolypeptide of von Willebrand Factor Biochemistry 31:8530-8534, 1992. Pubmed reference: 1390639.
1991 Takagi, J., Fujisawa, T., Sekiya, F., Saito, Y. :
Collagen-Binding Domain Within Bovine Propolypeptide of von Willebrand Factor Journal of Biological Chemistry 266:5575-5579, 1991. Pubmed reference: 2005098.
1990 Bakhshi, M.R., Kirby, E.P. :
Proteolytic and immunologic comparison of human and bovine von Willebrand Factor Thrombosis and Haemostasis 63:517-523, 1990. Pubmed reference: 2205950.

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  • Created by Frank Nicholas on 06 Sep 2005