1. James, H.L. Physiology and Biochemistry of Factor X. In Haemostasis and Thrombosis; Bloom, A.L., Forbes, C.D., Thomas, D.P., Tuddenham, E.G.D., Eds.; Churchill Livingstone: Edinburgh, 1994; 439-464.

2. Hertzberg, M. Biochemistry of factor X. Blood Rev. 1994, 8 (1), 2-56.

3. Telfer, T.P.; Denson, K.W.; Wright, D.R. A new coagulation defect. Br. J. Haematol. 1956, 2 (3), 308-316.

4. Hougie, C.; Barrow, H.M.; Graham, J.B. Stuart clotting defect. Segregation of a hereditary hemorrhagic state from heterozygous heretofore called stable factor (SPCA, proconvertin, factor VII) deficiency. J. Clin. Invest. 1957, 36 (3), 485-493.

5. Graham, J.B.; Barrow, E.M.; Hougie, C. Genetic aspect of a new hemorrhagic state. J. Clin. Invest. 1957, 36 (3), 497-503.

6. Peyvandi, F.; Mannucci, P.M. Rare coagulation disorders. Thromb. Haemost. 1999, 82 (4), 1207-1214.

7. Peyvandi, F.; Mannucci, P.M.; Lak, M.; Abdoullahi, M.; Zeinali, S.; Sharifian, R.; Perry, D. Congenital factor X deficiency: Spectrum of bleeding symptoms in 32 Iranian patients. Br. J. Haematol. 1998, 102 (2), 626-628.

8. Pfeiffer, R.A.; Ott, R.; Gilgenkrantz, S.; Alexandre, P. Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46, XY, t(13;Y)(q11;q34). Hum. Genet. 1982, 62 (4), 358-360.

9. Cooper, D.N.; Millar, D.S.; Wacey, A.; Pemberton, S.; Tuddenham, E.G.D. Inherited factor X deficiency: Molecular genetics and pathophysiology. Thromb. Haemost. 1997, 78 (1), 161-172.

10. Girolami, A. Tentative and updated classification of factor X variants. Acta Haematol. 1986, 75 (1), 58-59.

11. Uprichard, J.; Perry, D.J. Factor X deficiency. Blood Rev. 2002, 16 (2), 97-110.

12. Dewerchin, M.; Liang, Z.; Moons, L.; Carmeliet, P.; Castellino, F.J.; Collen, D.; Rosen, E.D. Blood coagulation FX deficiency causes partial embryonic lethality and fatal neonatal bleeding in mice. Thromb. Haemost. 2000, 83 (2), 185-190.

13. Miyata, T.; Fischer, F.; Umeyama, H.; Appert, A.; Jambou,

D.; Kato, H. Factors X Nice I and II: Two novel missense mutations (Met-40Val and Pro304Ser) in patient with coagulation factor X deficiency. Thromb. Haemost. 1998, 80 (4), 709-710.

14. Racchi, M.; Watzke, H.H.; High, K.A.; Lively, M.O. Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but not targeting and translocation to the endoplasmic retic-ulum. J. Biol. Chem. 1993, 268 (8), 5735-5740.

15. Rudolph, A.E.; Mullane, M.P.; Porche-Sorbet, R.; Tsuda, S.; Miletich, J.P. Factor X St. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant protein. J. Biol. Chem. 1996, 271 (45), 28601-28606.

16. Kim, D.J.; Thompson, A.R.; Nash, D.R.; James, H.L. Factors X Wenatchee I and II: Compound heterozygosity involving two variant proteins. Biochim. Biophys. Acta 1995, 1271 (2-3), 327-334.

17. James, H.L.; Girolami, A.; Fair, D.S. Molecular defect in coagulation factor X Friuli results from a substitution of serine for proline at position 343. Blood 1991, 77 (2), 317-323.

18. Simioni, P.; Vianello, P.; Kalafatis, M.; Barzon, L.; Ladogana, S.; Paolucci, P.; Carotenuto, M.; Dal Bello, F.; Palß, G.; Girolami, A. A dysfunctional factor X (Factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: Identification of a novel micro-deletion (delC556) and missense mutation (Lys408! Asn) in the factor X gene. A study of an Italian family. Thromb. Res. 2001, 101 (4), 219-230.

19. Vianello, F.; Lombardi, AM.; Dal Bello, F.; Palß, G.; Zanon, E.; Girolami, A. A novel type I Factor X variant (Factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain. Blood Coagul. Fibrinolysis 2003, 14, 401-405.

20. Vianello, F.; Lombardi, A.M.; Dal Bello, F.; Zanon, E.; Cabrio, L.; Girolami, A. Conformation sensitive gel electrophoresis for a simple and accurate detection of factor X mutations. Thromb. Res. 2002, 107 (1-2), 51-54.

21. Padmanabhan, K.; Padmanabhan, K.P.; Tulinsky, A.; Park, C.H.; Bode, W.; Huber, R.; Blankenship, D.T.; Cardin, A.D.; Kisiel, W. Structure of human des(1-45) factor Xa at 2.2 A resolution. J. Mol. Biol. 1993, 232 (3), 947-966.

Factor XI Deficiency

Pierre Hopmeier

Hospital Rudolfstiftung, Vienna, Austria

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook

Post a comment