Fibrinogen Krakow: A novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function

Thrombosis and Haemostasis

Volumn 101, Issue 5, 2009, Pages 975-976

  Undas, Anetta ^a   Zdziarska, Joanna ^a   Iwaniec, Teresa ^a   Stepien, Ewa ^a   Skotnicki, Aleksander B ^a   De Moerloose, Philippe ^b   Neerman Arbez, Marguerite ^b,c  

^a JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; HEMOGLOBIN GAMMA CHAIN; HEPARIN;

ADULT; ALLELE; ALPHA CHAIN; ANAMNESIS; ARTICLE; BETA CHAIN; BLOOD CLOTTING TEST; BRAIN HEMORRHAGE; CASE REPORT; DNA DETERMINATION; DYSFIBRINOGENEMIA; FEMALE; FIBRIN CLOT; FIBRINOGEN BLOOD LEVEL; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOFIBRINOGENEMIA; NEPHELOMETRY; PARTIAL THROMBOPLASTIN TIME; PREGNANCY; PRIORITY JOURNAL; PROTHROMBIN TIME; SCANNING ELECTRON MICROSCOPY; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBIN TIME; THROMBOCYTOPENIA; THROMBOSIS;

BLOOD COAGULATION DISORDERS, INHERITED; BLOOD COAGULATION TESTS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FIBRINOGENS, ABNORMAL; FIBRINOLYSIS; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; POROSITY; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PROTEIN CONFORMATION; YOUNG ADULT;

EID: 66149190693     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH08-11-0737     Document Type: Article

References (10)

1. Roberts HR, Stinchcombe TE, Gabriel DA. The dysfibrinogenaemias. Br J Haematol 2001; 114: 249-257.
2. Brennan SO, Fellowes AP, George PM. Molecular mechanisms of hypo- and afibrinogenemia. Ann NY Acad Sci. 2001; 936: 91-100. (Pubitemid 32613895)
3. Vu D, Neerman-Arbez M. Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins. J Thromb Haemost 2007; 5 (Suppl 1): 125-131. (Pubitemid 46958825)
4. Undas A, Celinska-Lowenhoff M, Lowenhoff T, et al. Statins, fenofibrate, and quinapril increase clot permeability and enhance fibrinolysis in patients with coronary artery disease. J Thromb Haemost 2006; 4: 1029-1036.
5. Undas A, Szuldrzynski K, Stepien E, et al. Reduced clot permeability and susceptibility to lysis in patients with acute coronary syndrome: effects of inflammation and oxidative stress. Atherosclerosis 2007; 196: 551-557.
6. Williams S, Fatah K, Ivert T, et al. The effect of acetyl salicylic acid on fibrin gel lysis by tissue plasminogen activator. Blood Coagul Fibrinolysis 1995; 6: 718-725. (Pubitemid 26047201)
7. Neerman-Arbez M, de Moerloose P, Honsberger A, et al. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. Hum Genet 2001; 108: 237-240. (Pubitemid 32293671)
8. Guglielmone HA, Sanchez MC, Abate Daga D, et al. A new heterozygous mutation in gamma fibrinogen gene leading to 326Cys→Ser substitution in fibrinogen Cordoba is associated with defective polymerization and familial hypodysfibrinogenemia. J Thromb Haemost 2004; 2: 352-354. (Pubitemid 40192498)
9. Hamano A, Mimuro J, Aoshima M, et al. Thrombophilic dysfibrinogen Tokio V with the amino acid substitution of γ Ala327Thr: formation of fragile but fibrinolysis-resistant fibrin clots and its relevance to arterial thromboembolism. Blood 2004; 103: 3045-3050.
10. Meyer M, Franke K, Richter W, et al. New molecular defects in the gamma subdomain of fibrinogen D-domain in four cases of hypodysfibrinogenemia: fibrinogen variants Hannover VI, Homburg VII, Stuttgart and Suhl. Thromb Haemost 2003; 89: 637-646. (Pubitemid 36456960)