Molecular biology of haemostasis: Fibrinogen, factor XIII;Molekularbiologie der gerinnung: Fibrinogen, faktor XIII

Hamostaseologie

Volumn 24, Issue 2, 2004, Pages 108-115

  Meyer, Michael ^a  

^a Fachbereich Medizintechnik   (Germany)

Author keywords

Factor XIII; Fibrinogen; Molecular genetics

Indexed keywords

BLOOD CLOTTING FACTOR 13; FIBRINOGEN;

AMINO ACID SEQUENCE; CLINICAL FEATURE; DYSFIBRINOGENEMIA; FGA GENE; FGB GENE; FGG GENE; FIBRINOGEN DEFECT; FRAMESHIFT MUTATION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CODE; GENETIC DISORDER; HEMOSTASIS; HUMAN; HYPOFIBRINOGENEMIA; MOLECULAR BIOLOGY; MOLECULAR GENETICS; REVIEW; STRUCTURAL GENE; THROMBOSIS;

EID: 2642525392     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1619616     Document Type: Review

References (44)

1. Anwar R, Miloszewski KJ. Factor XIII deficiency. Br J Haematol 1999; 107: 468-84.
2. Ariens RAS, Philippou H, Nagaswami C et al. The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. Blood 2000; 96: 988-95.
3. Asl LH, Liepnieks JJ, Uemichi T et al. Renal amyloidosis with a frame shift mutation in fibrinogen Aα-chain gene producing a novel amyloid protein. Blood 1997; 90: 4799-805.
4. Beck EA. Congenital abnormalities of fibrinogen. Clin Haematol 1979; 8: 169-81.
5. Benson MD, Liepnieks J, Uemichi T et al. Hereditary renal amyloidosis associated with a mutant fibrinogen α-chain. Nature Genet 1993; 3: 252-5.
6. Blombäck M, Blombäck B, Mammen EF et al. Fibrinogen Detroit - a molecular defect in the N-terminal disulphide knot of human fibrinogen. Nature 1968; 218: 134-7.
7. Board PG, Losowsky MS, Miloszewski JA. Factor XIII: Inherited and acquired deficiency. Blood Rev 1993; 7: 229-42.
8. Brennan SO, Fellowes AP, George PM. Molecular mechanisms of hypo- and afibrinogenemia. Ann NY Acad Sci 2001; 936: 91-100.
9. Catto AJ, Kohler HP, Bannan S et al. Factor XIII Val34Leu: a novel association with primary intracerebral hemorrhage. Stroke 1998; 29: 813-6.
10. Chung DW, Harris JE, Davie EW. Nucleotide sequences of the three genes coding for human fibrinogen. In: Fibrinogen, thrombosis, coagulation, and fibrinolysis. Liu CY, Chien S (Hrsg). New York: Plenum Press 1990; 39-47.
11. Cunnigham MT, Brandt JT, Laposata M et al. Laboratory diagnosis of dysfibrinogenemia. Arch Pathol Lab Med 2002; 126: 499-505.
12. Doolittle RF. Fibrinogen and fibrin. Ann Rev Biochem 1984; 53: 195-229.
13. Duckert F, Jung E, Shmerling DH. A hitherto undescribed congenital hemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. Thromb Diathes Haemorrh 1960; 5: 179-86.
14. Dufner GS, Marbet GA. Der Faktor XIII des Menschen: eine Übersicht. Hämostaseologie 2002; 22: 1-7.
15. Duga S, Asselta R, Santagostino E et al. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood 2000; 95: 1336-41.
16. Ebert RF. Index of variant human fibrinogen. Boca Raton: CRC Press 1994.
17. Ernst E, Koenig W. Fibrinogen and cardiovascular risk. Vasc Med 1997; 2: 115-25.
18. Fibrinogen variants database (www.geht.org).
19. Franco RF, Reitsma PH, Lourenco D et al. Factor XIII Val34Leu is a genetic factor involved in the aetiology of venous thrombosis. Thromb Haemost 1999; 81: 676-9.
20. Green F. Fibrinogen polymorphisms and atherothrombotic disease. Ann NY Acad Sci 2001; 936: 549-59.
21. Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC subcommittee on fibrinogen. Thromb Haemost 1995; 73: 151-61.
22. Henschen A, Kehl M, Lottspeich F et al. Genetically abnormal fibrinogens - some current characterisation strategies. In: Haverkate F, Henschen A, Nieuwenhuizen W et al. (Hrsg). Fibrinogen. Structure, Functional Aspects, Metabolism. Berlin: Walter de Gruyter 1983; Vol. 2, 125-44.
23. Henschen A, McDonagh J. Fibrinogen, fibrin and factor XIII. In: Zwaal RFA, Hemker HC (Hrsg). Blood Coagulation. Amsterdam: Elsevier Science 1986; 171-241.
24. Ichinose A. Physiopathology and regulation of factor XIII. Thromb Haemost 2001; 86: 57-65.
25. Kant JA, Fornace AJ Jr, Saxe D et al. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci USA 1985; 80: 3953-7.
26. Kohler HP, Schröder V. Die Rolle von Faktor XIII bei kardio- und zerebrovaskulären Erkrankungen. Hämostaseologie 2002; 22: 39-44.
27. Kohler HP, Stickland MH, Ossei-Gerning N et al. Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb Haemost 1998; 79: 8-13.
28. Koopman J, Haverkate F, Grimbergen J et al. Fibrinogen Marburg: A homozygous case of dysfibrinogenemia, lacking amino acids Aα 461-610 (Lys 461 AAA → stop TAA). Blood 1992; 80: 1972-9.
29. Koopman J, Haverkate F, Grimbergen J et al. The molecular basis for fibrinogen Dusart (Aα554Arg→Cys) and its association with abnormal polymerization and thrombophilia. J Clin Invest 1993; 91: 1637-43.
30. Koseki S, Souri M, Koga S et al. Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. Blood 2001; 97: 2667-72.
31. Lorand L, Jeong JM, Radek JT et al. Human plasma factor XIII: Subunit interactions and activation of zymogen. Meth Enzymol 1993; 222: 22-35.
32. Matsuda M, Sugo T. Hereditary disorders of fibrinogen. Ann NY Acad Sci 2001; 936: 65-88.
33. Meyer M, Kutscher G, Binnewies T et al. Fibrinogen Hannover II: Characterization of a new case of dysfibrinogenemia associated with thromboembolic disease. Thromb Haemost 1999 (suppl), 780.
34. Mosesson MW. Fibrinogen structure and fibrin clot assembly. Semin Thromb Hemost 1998; 24: 169-74.
35. Neerman-Arbez M, Honsberger A, Antonarakis SE et al. Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrinogenemia. J Clin Invest 1999; 103: 215-8.
36. Neerman-Arbez M. Fibrinogen gene mutations accounting for congenital afibrinogenemia. Ann NY Acad Sci 2001; 936: 496-508.
37. Okumura N, Terasawa F, Yonekawa O et al. Hypofibrinogenemia associated with a heterozygous C>T nucleotide substitution at position -1138 BP of the 5'-flanking region of the fibrinogen A alpha-chain gene. Ann NY Acad Sci 2001; 936: 526-30.
38. Rupp C, Beck EA. Congenital dysfibrinogenemia. Curr Probl Clin Biochem 1984; 14: 65-130.
39. Sicker T, Hilgenfeld R. Blutgerinnungsfaktor XIII: Aktivierung, Substrate und Struktur einer Transglutaminase. Hämostaseologie 2002; 22: 21-7.
40. Souri M, Izumi T, Higashi Y et al. A founder effect is proposed for factor XIII B subunit deficiency caused by the insertion of triplet AAC in exon III encoding the second Sushi domain. Thromb Haemost 1998; 80: 211-3.
41. Terasawa F, Okumura N, Kitano K et al. Hypofibrinogenemia associated with a heterozygous missense mutation γ153Cys to Arg (Matsumoto IV): In vitro expression demonstrates defective secretion of the variant fibrinogen. Blood 1999; 94: 4122-31.
42. Trumbo TA, Maurer MC. Examining thrombin hydrolysis of the factor XIII activation peptide segment leads to a proposal for explaining the cardioprotective effects observed with the factor XIIIVal34Leu mutation. J Biol Chem 2000; 275: 20627-31.
43. Wada Y, Lord ST. A correlation between thrombotic disease and a specific fibrinogen abnormality (Aα 554 Arg→Cys) in two unrelated kindred: Dusart and Chapel Hill III. Blood 1994; 84: 3709-14.
44. Weisel JW, Cederholm-Williams SA. Fibrinogen and fibrin: Characterization, processing and medical applications. In: Domb AJ, Kast J, Wiseman DM (Hrsg). Handbook of Biodegradable Polymers. Amsterdam: Warwood. 1999; 347-65.