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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Afibrinogenemia


High impact information on Afibrinogenemia


Chemical compound and disease context of Afibrinogenemia


Biological context of Afibrinogenemia


Anatomical context of Afibrinogenemia

  • Our results confirm the utility of transfecting COS-7 cells to study mRNA splice-site mutations and demonstrate that the common FGA IVS4 variant is a null mutation leading to afibrinogenemia [15].

Gene context of Afibrinogenemia

  • The coincidence of fibronectin with mononuclear cells was more apparent in a 48-h DH reaction from a patient with congenital afibrinogenemia [1].
  • BACKGROUND AND OBJECTIVES: Congenital afibrinogenemia is a rare coagulation disorder whose molecular basis is still poorly characterized [16].
  • A rare association of congenital afibrinogenemia and hereditary protein C deficiency is described in a 37-year-old female who suffered from ischemic necrosis in the left first toe [17].
  • Coexistence of congenital afibrinogenemia and protein C deficiency in a patient [17].
  • The the authors' knowledge, the case described by them is the first in which PC deficit is associated with afibrinogenemia [18].

Analytical, diagnostic and therapeutic context of Afibrinogenemia


  1. Fibronectin deposition in delayed-type hypersensitivity. Reactions of normals and a patient with afibrinogenemia. Clark, R.A., Horsburgh, C.R., Hoffman, A.A., Dvorak, H.F., Mosesson, M.W., Colvin, R.B. J. Clin. Invest. (1984) [Pubmed]
  2. The endogenous lectin of human platelets is an alpha-granule component. Gartner, T.K., Gerrard, J.M., White, J.G., Williams, D.C. Blood (1981) [Pubmed]
  3. Enhancing effect by heparin on shear-induced platelet aggregation. Kawano, K., Ikeda, Y., Handa, M., Kamata, T., Anbo, H., Araki, Y., Kawai, Y., Watanabe, K., Itagaki, I., Kawakami, K. Semin. Thromb. Hemost. (1990) [Pubmed]
  4. Afibrinogenemia following snake bite (Crotalus durissus terrificus). Amaral, C.F., da Silva, O.A., López, M., Pedroso, E.R. Am. J. Trop. Med. Hyg. (1980) [Pubmed]
  5. Intra-abdominal hemorrhage due to a ruptured corpus luteum cyst in a girl with congenital afibrinogenemia. Koussi, A., Economou, M., Athanasiou-Metaxa, M. Eur. J. Pediatr. (2001) [Pubmed]
  6. von Willebrand factor interaction with the glycoprotein IIb/IIa complex. Its role in platelet function as demonstrated in patients with congenital afibrinogenemia. De Marco, L., Girolami, A., Zimmerman, T.S., Ruggeri, Z.M. J. Clin. Invest. (1986) [Pubmed]
  7. A fibrinogen deficiency accelerates the initiation of LDL cholesterol-driven atherosclerosis via thrombin generation and platelet activation in genetically predisposed mice. Iwaki, T., Sandoval-Cooper, M.J., Brechmann, M., Ploplis, V.A., Castellino, F.J. Blood (2006) [Pubmed]
  8. Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Neerman-Arbez, M., Germanos-Haddad, M., Tzanidakis, K., Vu, D., Deutsch, S., David, A., Morris, M.A., de Moerloose, P. Blood (2004) [Pubmed]
  9. Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. Vu, D., Bolton-Maggs, P.H., Parr, J.R., Morris, M.A., de Moerloose, P., Neerman-Arbez, M. Blood (2003) [Pubmed]
  10. Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia. Fellowes, A.P., Brennan, S.O., Holme, R., Stormorken, H., Brosstad, F.R., George, P.M. Blood (2000) [Pubmed]
  11. Severe ovarian hemorrhage in congenital afibrinogenemia. Schneider, D., Bukovsky, I., Kaufman, S., Sadovsky, G., Caspi, E. Acta obstetricia et gynecologica Scandinavica. (1981) [Pubmed]
  12. Testing of platelet deposition on polystyrene surface under flow conditions by the cone and plate(let) analyzer: role of platelet activation, fibrinogen and von Willebrand factor. Shenkman, B., Savion, N., Dardik, R., Tamarin, I., Varon, D. Thromb. Res. (2000) [Pubmed]
  13. Performance of the platelet function analyser PFA-100 in testing abnormalities of primary haemostasis. Harrison, P., Robinson, M.S., Mackie, I.J., Joseph, J., McDonald, S.J., Liesner, R., Savidge, G.F., Pasi, J., Machin, S.J. Blood Coagul. Fibrinolysis (1999) [Pubmed]
  14. The effect of ionophore on platelet aggregation in von Willebrand's disease and in congenital afibrinogenemia. A comparison with ristocetin. Girolami, A., Fabris, F., Marco, L., Peruffo, R. Acta Haematol. (1976) [Pubmed]
  15. Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T. Attanasio, C., de Moerloose, P., Antonarakis, S.E., Morris, M.A., Neerman-Arbez, M. Blood (2001) [Pubmed]
  16. Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia. Asselta, R., Spena, S., Duga, S., Peyvandi, F., Malcovati, M., Mannucci, P.M., Tenchini, M.L. Haematologica (2002) [Pubmed]
  17. Coexistence of congenital afibrinogenemia and protein C deficiency in a patient. Hanano, M., Takahashi, H., Itoh, M., Shibata, A. Am. J. Hematol. (1992) [Pubmed]
  18. Association of congenital afibrinogenemia and K-dependent protein C deficiency--a case report. De Mattia, D., Regina, G., Giordano, P., Del Vecchio, G.C., Altomare, M., Schettini, F. Angiology. (1993) [Pubmed]
  19. Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. Neerman-Arbez, M., Vu, D., Abu-Libdeh, B., Bouchardy, I., Morris, M.A. Blood (2003) [Pubmed]
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