Fibrinogen Bβ14 Arg→Cys: Further evidence for a role in thrombosis

Blood Coagulation and Fibrinolysis

Volumn 10, Issue 7, 1999, Pages 403-408

  Vakalopoulou, S ^a   Mille Baker, B ^a   Mumford, A ^a   Manning, R ^a   Laffan, M ^a  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Dysfibrinogen; Fibrinogen; Mutation; Stroke; Thrombosis

Indexed keywords

ARGININE; BATROXOBIN; CYSTEINE; DNA; FIBRIN MONOMER; FIBRINOGEN; SNAKE VENOM; THROMBIN;

ADULT; ARTICLE; BLOOD CLOTTING; CASE REPORT; CONTROLLED STUDY; DYSFIBRINOGENEMIA; FEMALE; FIBRIN POLYMERIZATION; FLOW CYTOMETRY; GENE; GENE MUTATION; GENOTYPE; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTE; THROMBOSIS; GENETICS; MALE; PATHOPHYSIOLOGY; POINT MUTATION;

ADULT; ARGININE; CYSTEINE; FEMALE; FIBRINOGEN; HUMANS; MALE; POINT MUTATION; THROMBOSIS;

EID: 0033233289     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-199910000-00001     Document Type: Article

References (17)

1. 1. Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995; 73: 151-161.
2. 2. Laffan M, Bradshaw A. Investigation of a thrombotic tendency. In: Dacie J, Lewis S (editors): Practical haematology 8th edn. Edinburgh: Churchill Livingstone; 1995.
3. 3. Chung DW, Que BG, Rixon MW, Mace MJ, Davie EW. Characterization of complementary deoxyribonucleic acid and genomic deoxyribonucleic acid for the beta chain of human fibrinogen. Biochemistry 1983; 22: 3244-3250.
4. 4. Rixon MW, Chan WY, Davie EW, Chung DW. Characterization of a complementary deoxyribonucleic acid coding for the alpha chain of human fibrinogen. Biochemistry 1983; 22: 3237-3244.
5. 5. Fornace AJ, Cummings DE, Comeau CM, Kant JA, Crabtree GR. Structure of the human gamma-fibrinogen gene. Alternate mRNA splicing near the 3′ end of the gene produces gamma A and gamma B forms of gamma-fibrinogen. J Biol Chem 1984; 259: 12826-12830.
6. 6. Janes SL, Wilson DJ, Chronos N, Goodall AH. Evaluation of whole blood flow cytometric detection of platelet bound fibrinogen on normal subjects and patients with activated platelets. Thromb Haemost 1993; 70: 659-666.
7. 7. Laffan M, Dawson P, Gooding RP. A comparison between the platelet activating properties of different contrast media used in radiology and MRI. Br J Radiol 1997; 70: 798-804.
8. 8. Kaundewitz H, Henschen A, Soria C, Soria J, Bertrand O, Heaton D. Biochemistry, physiology and pathophysiology; the molecular defect of the genetically abnormal fibrinogen Christchurch H. In: Muller-Berghaus G, Scheefers-Boorchel U, Selmayr E, Henschen A (editors): Fibrinogen and its derivatives. Amsterdam: Elsevier; 1986. pp. 31-36.
9. 9. Pandya BV, Gabriel JL, O'Brien J, Budzynski AZ. Polymerization site in the beta chain of fibrin: mapping of the B beta 1-55 sequence. Biochemistry 1991; 30: 162-168.
10. 10. Liu CY, Koehn JA, Morgan FJ. Characterization of fibrinogen New York 1. A dysfunctional fibrinogen with a deletion of B beta(9-72) corresponding exactly to exon 2 of the gene. J Biol Chem 1985; 260: 4390-4396.
11. 11. Branson HE, Schmer G, Dillard DH. Fibrinogen Seattle. A qualitatively abnormal fibrinogen in a patient with tetralogy of Fallot. Am J Clin Pathol 1977; 67: 236-240.
12. 12. Brennan SO, Hammonds B, Spearing R, George PM. Electrospray ionisation mass spectrometry facilitates detection of fibrinogen (Bbeta 14 Arg→Cys) mutation in a family with thrombosis. Thromb Haemost 1997; 78: 1484-1487.
13. 13. Koopman J, Haverkate F, Grimbergen J, Engesser L, Novakova I, Kerst AF, Lord ST. Abnormal fibrinogens IJmuiden (B beta Arg14-Cys) and Nijmegen (B beta Arg44-Cys) form disulfide-linked fibrinogen-albumin complexes. Proc Natl Acad Sci USA 1992; 89: 3478-3482.
14. 14. Liu CY, Nossel HL, Kaplan KL. The binding of thrombin by fibrin. J Biol Chem 1979; 254: 10421-10425.
15. 15. De Cristofaro, R, Furlan M, Landolfi R. Fibrinogen Milano IV (A alpha 16 Arg→His): characterization of its abnormal interaction with human alpha-thrombin. Biochem J 1994; 302: 623-624.
16. 16. Galanakis DK. Fibrinogen anomalies and disease. A clinical update. Hematol Oncol Clin North Am 1992; 6: 1171-1187.
17. 17. Koopman J, Haverkate F, Grimbergen J, Lord ST, Mosesson MW, DiOrio JP, et al. Molecular basis for fibrinogen Dusart (A alpha 554 Arg→Cys) and its association with abnormal fibrin polymerization and thrombophilia. J Clin Invest 1993; 91: 1637-1643.