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MeSH Review

Factor V Deficiency

 
 
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Disease relevance of Factor V Deficiency

 

High impact information on Factor V Deficiency

  • Factor V (FV) deficiency, also known as parahemophilia, is a rare bleeding disorder [4].
  • Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype [5].
  • Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding [6].
  • Factor V increased the rate of APC-mediated factor VIII inactivation in a dose-dependent manner in representative plasma samples with protein S or factor V deficiency, abnormal factor V (heterozygous or homozygous for factor VR506Q), or a combination of heterozygous protein S deficiency and heterozygous factor VR506Q [7].
  • Perivascular amyloid deposition and factor V deficiency are both thought to be the cause of the severe hemorrhagic tendency seen in this patient [8].
 

Chemical compound and disease context of Factor V Deficiency

 

Biological context of Factor V Deficiency

 

Gene context of Factor V Deficiency

References

  1. Coagulation factor content of solvent/detergent plasma compared with fresh frozen plasma. Doyle, S., O'Brien, P., Murphy, K., Fleming, C., O'Donnell, J. Blood Coagul. Fibrinolysis (2003) [Pubmed]
  2. T-cell prolymphocytic leukemia with autoimmune manifestations in Nijmegen breakage syndrome. Michallet, A.S., Lesca, G., Radford-Weiss, I., Delarue, R., Varet, B., Buzyn, A. Ann. Hematol. (2003) [Pubmed]
  3. Pseudo-homozygous activated protein C resistance due to coinheritance of heterozygous factor V Leiden mutation and type I factor V deficiency. Variable expression when analyzed by different activated protein C resistance functional assays. Delahousse, B., Iochmann, S., Pouplard, C., Fimbel, B., Charbonnier, B., Gruel, Y. Blood Coagul. Fibrinolysis (1997) [Pubmed]
  4. Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized. Steen, M., Miteva, M., Villoutreix, B.O., Yamazaki, T., Dahlbäck, B. Blood (2003) [Pubmed]
  5. Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype. Yamazaki, T., Nicolaes, G.A., Sørensen, K.W., Dahlbäck, B. Blood (2002) [Pubmed]
  6. Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding. Schrijver, I., Houissa-Kastally, R., Jones, C.D., Garcia, K.C., Zehnder, J.L. Thromb. Haemost. (2002) [Pubmed]
  7. Factor V enhances the cofactor function of protein S in the APC-mediated inactivation of factor VIII: influence of the factor VR506Q mutation. Váradi, K., Rosing, J., Tans, G., Pabinger, I., Keil, B., Schwarz, H.P. Thromb. Haemost. (1996) [Pubmed]
  8. Life-threatening bleeding and acquired factor V deficiency associated with primary systemic amyloidosis. Emori, Y., Sakugawa, M., Niiya, K., Kiguchi, T., Kojima, K., Takenaka, K., Shinagawa, K., Ishimaru, F., Ikeda, K., Tanimoto, M., Yamasaki, R., Ohara, N., Harada, M. Blood Coagul. Fibrinolysis (2002) [Pubmed]
  9. Intracranial haemorrhage due to factor V deficiency. Totan, M., Albayrak, D. Acta Paediatr. (1999) [Pubmed]
  10. Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain. Asselta, R., Montefusco, M.C., Duga, S., Malcovati, M., Peyvandi, F., Mannucci, P.M., Tenchini, M.L. J. Thromb. Haemost. (2003) [Pubmed]
  11. Familial association of hypoplasminogenemia and heterozygous factor V deficiency. Sartori, M.T., Patrassi, G.M., Theodoridis, P., Danesin, C., Abati, C., Girolami, A. Clin. Appl. Thromb. Hemost. (1999) [Pubmed]
  12. IgA nephropathy associated with mild type-coagulation factor V deficiency in father and son. Imai, H., Kodama, T., Yasuda, T., Wakui, H., Komatsuda, A., Miura, A.B., Nakamoto, Y. Clin. Nephrol. (1995) [Pubmed]
  13. Factor V antigen levels in APC resistance, in factor V deficiency and in combined APC resistance and factor V deficiency (pseudohomozygosis for APC resistance). Girolami, A., Simioni, P., Venturelli, U., Girolami, B., Zanon, E. Blood Coagul. Fibrinolysis (1997) [Pubmed]
  14. Factor V deficiency in a patient with rheumatoid arthritis. Omata, F., Ichikawa, Y., Nozaki, H., Nomoto, H., Arimori, S. Jpn. J. Med. (1991) [Pubmed]
  15. Surgical correction of coarctation of the aorta and ventricular septal defect in an infant with inherited factor V deficiency. Losay, J., Binet, J.P., Bogaty, Y., Samama, M. Pediatric cardiology. (1983) [Pubmed]
 
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