Have a personal or library account? Click to login

The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease

Open Access
|May 2019

References

  1. 1. Favaloro EJ, Pasalic L, Curnow J. Laboratory tests used to help diagnose von Willebrand disease: an update. Pathology 2016; 48(4): 303–318.
  2. 2. Kubisz P, Sokol J, Simurda T, et al. Diagnosis and management of von Willebrand disease in Slovakia; Ann Blood 2018;3:9.
  3. 3. Penka M, Tesarova E et al. Hematologie a transfúzní lekářství I. Bratislava: Grada Slovakia; 2011, 421 s.
  4. 4. Stockschlaeder M, Scheppenheim R, Budde, U. Update on von Willebrand factor multimers: focus on high-molecular-weight multimers and their role in hemostasis. Blood Coagul Fibrinolysis 2014; 25(3):206-16.
  5. 5. Stasko J, Sokol J, Dobrotova M, Plamenova I, et al. Von Willebrandova choroba – profylaxia a liečba. Vask. med., 2016, 8(3): 116–121.
  6. 6. James PD, Goodeve AC. Von Willebrand disease. Genet Med 2011:13(5):365–376.
  7. 7. Baronciani L, Goodeve A, Peyvandi F. Molecular diagnosis of von Willebrand disease. Haemophilia 2017, 1–10.
  8. 8. Mancuso DJ, Tuley EA, Westfield LA, et al. Human von Willebrand Factor Gene and Pseudogene: Structural Analysis and Differentiation by Polymerase Chain Reaction. Biochemistry 1991;30:253-269.
  9. 9. De Jong A, Eikenboom J. Von Willebrand disease mutation spectrum and associated mutation mechanisms. Thrombosis Research 2017;159:65-75.
  10. 10. Goodeve, A. Diagnosing von Willebrand disease: genetic analysis. Hematology Am Soc Hematol Educ Program 2016(1):678-682.
  11. 11. Wang QY, Song J,Gibbs RA, et al. Characterizing Polymorphisms and Allelic Diversity of von Willebrand Factor Gene in the 1000 Genomes. J Thromb Haemost 2013;11(2):261-9.
  12. 12. Corrales I, Ramirez L, Altisent C, et al. Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene. Thromb Haemost 2009; 101: 570–576.
  13. 13. Peake IR, Goodeve AC. Genetic testing for von Willebrand disease: the case for. J Thromb Haemost 2010;8(1):13-6.
  14. 14. Favaloro EJ. Genetic testing for von Willebrand disease: the case against. J Thromb Haemost 2010; 8: 6–12.
  15. 15. Swystun LL, James PD. Genetic diagnosis in hemophilia and von Willebrand disease. Blood Rev 2017;31(1):47-56.
  16. 16. Xiang Y, Cheng J, Wang D, et al. Hyperglycemia repression of miR-24 coordinately upregulates endothelial cell expression and secretion of von Willebrand disease. Blood 2015;125(22):3377-87.
  17. 17. Xiang Y, Hwa J. Regulation of vWF expression, and secretion in health and disease. Curr Opin Hematol 2016;23(3):288-93.
  18. 18. Gerykova Bujalkova M, Lohajova Behulova R, Lukackova R, et al. Sekvenovanie novej generácie a jeho využitie v klinickej genetike. NewsLab 2015, 1:15.
DOI: https://doi.org/10.2478/acm-2019-0001 | Journal eISSN: 1338-4139 | Journal ISSN: 1335-8421
Language: English
Page range: 5 - 11
Submitted on: Dec 12, 2018
Accepted on: Mar 1, 2019
Published on: May 9, 2019
Published by: Sciendo
In partnership with: Paradigm Publishing Services
Publication frequency: 3 issues per year

© 2019 J Zolkova, J Sokol, T Simurda, L Vadelova, Z Snahnicanova, D Loderer, M Dobrotova, I Skornova, Z Lasabova, P Kubisz, J Stasko, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.