MOLECULAR CHARACTERIZATION OF IRANIAN PATIENTS WITH INHERITED COAGULATION FACTOR VII DEFICIENCY
Shahbazi S, Mahdian R, Karimi K, Mashayekhi A
*Corresponding Author: Dr. Shirin Shahbazi, Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Al-e-Ahmad and Chamran Cross, POB 14115-111Tehran, Iran. Tel: +98-21-82-884-556. Fax: +98-21- 82-884-555. E-mail: sh.shahbazi@modares.ac.ir
page: 8

REFERENCES

1. Pfeiffer RA, 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. 2. Lapecorella M, Mariani G; International Registry on Congenital Factor VIID. Factor VII deficiency: Defining the clinical picture and optimizing therapeutic options. Haemophilia. 2008; 14(6): 1170-1175. 3. O’Hara PJ, Grant FJ, Haldeman BA, Gray CL, Insley MY, Hagen FS, et al. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci USA. 1987; 84(15): 5158-5162. 4. Hagen FS, Gray CL, O’Hara P, Grant FJ, Saari GC, Woodbury RG, et al. Characterization of a cDNA coding for human factor VII. Proc Natl Acad Sci USA. 1986; 83(8): 2412-2416. 5. Berkner K, Busby S, Davie E, Hart C, Insley M, Kisiel W, et al. Isolation and expression of cDNAs encoding human factor VII. Cold Spring Harb Symp Quant Biol. 1986; 51(Pt 1): 531-541. 6. Nakagaki T, Foster DC, Berkner KL, Kisiel W. Initiation of the extrinsic pathway of blood coagulation: Evidence for the tissue factor dependent autoactivation of human coagulation factor VII. Biochemistry. 1991; 30(45): 10819-10824. 7. Napolitano M, Siragusa S, Mariani G. Factor VII deficiency: Clinical phenotype, genotype and therapy. J Clin Med. 2017; 6(4): 38. 8. Sevenet PO, Kaczor DA, Depasse F. Factor VII deficiency: From basics to clinical laboratory diagnosis and patient management. Clin Appl Thromb Hemost. 2017; 23(7): 703-710. 9. Mumford AD, Ackroyd S, Alikhan R, Bowles L, Chowdary P, Grainger J, et al. Guideline for the diagnosis and management of the rare coagulation disorders: A United Kingdom Haemophilia Centre Doctors’ Organisation guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol. 2014; 167(3): 304-326. 10. Mariani G, Bernardi F. Factor VII deficiency. Semin Thromb Hemost. 2009; 35(4): 400-406. 11. Herrmann FH, Wulff K, Auerswald G, Schulman S, Astermark J, Batorova A, et al. Factor VII deficiency: Clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia. 2009; 15(1): 267-280. 12. McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG. Factor VII deficiency and the FVII mutation database. Hum Mutat. 2001; 17(1): 3-17. 13. Cramer TJ, Anderson K, Navaz K, Brown JM, Mosnier LO, von Drygalski A. Heterozygous congenital Factor VII deficiency with the 9729del4 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male. Blood Cells Mol Dis. 2016; 57: 8-12. 14. Castaman G, Plate M, Giacomelli SH, Rodeghiero F, Duga S. Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies. J Thromb Haemost. 2010; 8(12): 2736-2742. 15. Shahbazi S, Baniahmad F, Zakiani-Roudsari M, Raigani M, Mahdian R. Nonsense mediated decay of VWF mRNA subsequent to c.7674-7675insC mutation in type 3 VWD patients. Blood Cells Mol Dis. 2012; 49(1): 48-52. 16. Peyvandi F, De Cristofaro R, Garagiola I, Palla R, Akhavan S, Landolfi R, et al. The P303T mutation in the human factor VII (FVII) gene alters the conformational state of the enzyme and causes a severe functional deficiency. Br J Haematol. 2004; 127(5): 576-584. 17. Persson E, Kjalke M, Olsen OH. Rational design of coagulation factor VIIa variants with substantially increased intrinsic activity. Proc Natl Acad Sci USA. 2001; 98(24): 13583-13588. 18. Millar DS, Kemball-Cook G, McVey JH, Tuddenham EG, Mumford AD, Attock GB, et al. Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. Hum Genet. 2000; 107(4): 327-342. 19. O’Brien DP, Gale KM, Anderson JS, McVey JH, Miller GJ, Meade TW, et al. Purification and characterization of factor VII 304-Gln: A variant molecule with reduced activity isolated from a clinically unaffected male. Blood. 1991; 78(1): 132-140. 20. Giansily-Blaizot M, Flory-Pigagniol L, Favier R, Farah RA, Martin-Toutain I, Verdy E, et al. Accurate characterization of the IVS7 repeat polymorphism of FVII gene and identification of three novel allelic forms. Thromb Haemost. 2006; 96(1): 95-97. 21. Pinotti M, Toso R, Girelli D, Bindini D, Ferraresi P, Papa ML, et al. Modulation of factor VII levels by intron 7 polymorphisms: Population and in vitro studies. Blood. 2000; 95(11): 3423-3428. 22. Peyvandi F, Jenkins PV, Mannucci PM, Billio A, Zeinali S, Perkins SJ, et al. Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency. Thromb Haemost. 2000; 84(2): 250-257. 23. Ahmed RP, Biswas A, Kannan M, Bhattacharya M, Geisen C, Seifried E, et al. First report of a FVIIdeficient Indian patient carrying double heterozygous mutations in the FVII gene. Thromb Res. 2005; 115(6): 535-536. 24. Mota L, Shetty S, Idicula-Thomas S, Ghosh K. Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India. Clin Chim Acta. 2009; 409(1-2): 106-111. 25. Tamary H, Fromovich Y, Shalmon L, Reich Z, Dym O, Lanir N, et al. Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. Thromb Haemost. 1996; 76(3): 283-291. 26. Wulff K, Herrmann FH. Twenty two novel mutations of the factor VII gene in factor VII deficiency. Hum Mutat. 2000; 15(6): 489-496.



Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006