FXIII Deficiency


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3.         Sárváry, A., et al., Possible role of factor XIII subunit A in Fcγ and complement receptor-mediated phagocytosis. Cell Immunol, 2004. 228(2): p. 81-90.

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6.         Koseki-Kuno, S., et al., Factor XIII A subunit-deficient mice developed severe uterine bleeding events and subsequent spontaneous miscarriages. Blood, 2003. 102(13): p. 4410-2.

7.         Asahina, T., et al., Maternal blood coagulation factor XIII is associated with the development of cytotrophoblastic shell. Placenta, 2000. 21(4): p. 388-93.

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10.       Board, P.G., et al., Localization of the coagulation factor XIII A subunit gene (F13A) to chromosome bands 6p24—-p25. Cytogenet Cell Genet, 1988. 48(1): p. 25-7.

11.       Yee, V.C., et al., Structure and function studies of factor XIIIa by x-ray crystallography. Semin Thromb Hemost, 1996. 22(5): p. 377-84.

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13.       Handrkova, H., V. Schroeder, and H.P. Kohler, The activation peptide of coagulation factor XIII is vital for its expression and stability. J Thromb Haemost, 2015. 13(8): p. 1449-58.

14.       Komáromi, I., Z. Bagoly, and L. Muszbek, Factor XIII: novel structural and functional aspects. J Thromb Haemost, 2011. 9(1): p. 9-20.

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16.       Ichinose, A., The physiology and biochemistry of factor XIII, in Haemostasis and Thrombosis, A.L. Bloom, et al., Editors. 1994, Churchill Livingstone. p. 531-546.

17.       Board, P.G., M.S. Losowsky, and K.J. Miloszewski, Factor XIII: inherited and acquired deficiency. Blood Rev, 1993. 7(4): p. 229-42.

18.       Mosesson, M.W., et al., Evidence that α2-antiplasmin becomes covalently ligated to plasma fibrinogen in the circulation: a new role for plasma factor XIII in fibrinolysis regulation. J Thromb Haemost, 2008. 6(9): p. 1565-70.

19.       Polgar, J., V. Hidasi, and L. Muszbek, Non-proteolytic activation of cellular protransglutaminase (placenta macrophage factor XIII). Biochem J, 1990. 267(2): p. 557-60.

20.       Richardson, V.R., et al., Substrates of Factor XIII-A: roles in thrombosis and wound healing. Clin Sci (Lond), 2013. 124(3): p. 123-37.

21.       Wolpl, A., et al., Coagulation factor XIII A and B subunits in bone marrow and liver transplantation. Transplantation, 1987. 43(1): p. 151-3.

22.       Bottenus, R.E., A. Ichinose, and E.W. Davie, Nucleotide sequence of the gene for the b subunit of human factor XIII. Biochemistry, 1990. 29(51): p. 11195-209.

23.       Webb, G.C., et al., Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31-32.1 and restriction fragment length polymorphism at the locus. Hum Genet, 1989. 81(2): p. 157-60.

24.       Souri, M., H. Kaetsu, and A. Ichinose, Sushi domains in the B subunit of factor XIII responsible for oligomer assembly. Biochemistry, 2008. 47(33): p. 8656-64.

25.       Greenberg, C.S., et al., Cleavage of blood coagulation factor XIII and fibrinogen by thrombin during in vitro clotting. J Clin Invest, 1985. 75(5): p. 1463-70.

26.       Moaddel, M., et al., Interactions of human fibrinogens with factor XIII: roles of calcium and the γ’ peptide. Biochemistry, 2000. 39(22): p. 6698-705.

27.       Mosesson, M.W., Fibrinogen γ chain functions. J Thromb Haemost, 2003. 1(2): p. 231-8.

28.       Siebenlist, K.R., D.A. Meh, and M.W. Mosesson, Plasma factor XIII binds specifically to fibrinogen molecules containing γ’ chains. Biochemistry, 1996. 35(32): p. 10448-53.

29.       Souri, M., T. Osaki, and A. Ichinose, The Non-catalytic B Subunit of Coagulation Factor XIII Accelerates Fibrin Cross-linking. J Biol Chem, 2015. 290(19): p. 12027-39.

30.       Anwar, R., et al., Identification of a new Leu354Pro mutation responsible for factor XIII deficiency. Eur J Haematol, 2001. 66(2): p. 133-6.

31.       Gomez Garcia, E.B., et al., Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency. Br J Haematol, 2001. 112(2): p. 513-8.

32.       Koseki, S., et al., Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. Blood, 2001. 97(9): p. 2667-72.

33.       Biswas, A., et al., Coagulation factor XIII deficiency. Diagnosis, prevalence and management of inherited and acquired forms. Hamostaseologie, 2014. 34(2): p. 160-6.

34.       Biswas, A., et al., In vitro secretion deficits are common among human coagulation factor XIII subunit B missense mutants: correlations with patient phenotypes and molecular models. Hum Mutat, 2013. 34(11): p. 1490-500.

35.       Thomas, A., et al., Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants. Mol Genet Genomic Med, 2015. 3(4): p. 258-71.

36.       National Center for Biotechnology Information. Variation Viewer:  F13A1 gene-NM_000129.3. 2018  [cited 2018 2018, November 25th]; Available from: https://http://www.ncbi.nlm.nih.gov/variation/view/?q=2162%5Bgeneid%5D&assm=GCF_000001405.25.

37.       Attie-Castro, F.A., et al., Ethnic heterogeneity of the factor XIII Val34Leu polymorphism. Thromb Haemost, 2000. 84(4): p. 601-3.

38.       McCormack, L.J., et al., Prevalence of FXIII V34L in populations with different cardiovascular risk. Thromb Haemost, 1998. 80(3): p. 523-4.

39.       Kohler, H.P., et al., A common coding polymorphism in the FXIII A-subunit gene (FXIIIVal34Leu) affects cross-linking activity. Thromb Haemost, 1998. 80(4): p. 704.

40.       Reiner, A.P., et al., Polymorphisms of coagulation factor XIII subunit A and risk of nonfatal hemorrhagic stroke in young white women. Stroke, 2001. 32(11): p. 2580-6.

41.       Anwar, R., et al., Genotype/phenotype correlations for coagulation factor XIII: specific normal polymorphisms are associated with high or low factor XIII specific activity. Blood, 1999. 93(3): p. 897-905.

42.       Kohler, H.P., et al., Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb Haemost, 1998. 79(1): p. 8-13.

43.       Wartiovaara, U., et al., Effect of Val34Leu polymorphism on the activation of the coagulation factor XIII-A. Thromb Haemost, 2000. 84(4): p. 595-600.

44.       Hancer, V.S., et al., The association between factor XIII Val34Leu polymorphism and early myocardial infarction. Circ J, 2006. 70(3): p. 239-42.

45.       Aleksic, N., et al., Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclerosis Risk in Communities (ARIC) Study. Arterioscler Thromb Vasc Biol, 2002. 22(2): p. 348-52.

46.       Warner, D., M.W. Mansfield, and P.J. Grant, Coagulation factor XIII and cardiovascular disease in UK Asian patients undergoing coronary angiography. Thromb Haemost, 2001. 85(3): p. 408-11.

47.       Voko, Z., et al., Factor XIII Val34Leu variant protects against coronary artery disease. A meta-analysis. Thromb Haemost, 2007. 97(3): p. 458-63.

48.       Wells, P.S., et al., Factor XIII Val34Leu variant is protective against venous thromboembolism: a HuGE review and meta-analysis. Am J Epidemiol, 2006. 164(2): p. 101-9.

49.       Biswas, A., et al., Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function. Ann Hematol, 2014. 93(10): p. 1665-76.

50.       Ivaškevičius, V., et al., Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2. Haemophilia, 2017. 23(3): p. e194-e203.

51.       Thomas, A., et al., Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action. Hum Mutat, 2016. 37(10): p. 1030-41.

52.       Ivaškevičius, V., et al., International registry on factor XIII deficiency: a basis formed mostly on European data. Thromb Haemost, 2007. 97(6): p. 914-21.

53.       Seitz, R., et al., ETRO Working Party on Factor XIII questionnaire on congenital factor XIII deficiency in Europe: status and perspectives. Study Group. Semin Thromb Hemost, 1996. 22(5): p. 415-8.

54.       Tosetto, A., G. Castaman, and F. Rodeghiero, Acquired plasma factor XIII deficiencies. Haematologica, 1993. 78(6 Suppl 2): p. 5-10.

55.       Inbal, A. and R. Dardik, Role of coagulation factor XIII (FXIII) in angiogenesis and tissue repair. Pathophysiol Haemost Thromb, 2006. 35(1-2): p. 162-5.

56.       Asahina, T., et al., Congenital blood coagulation factor XIII deficiency and successful deliveries: a review of the literature. Obstet Gynecol Surv, 2007. 62(4): p. 255-60.

57.       Oertel, K., et al., A highly sensitive fluorometric assay for determination of human coagulation factor XIII in plasma. Anal Biochem, 2007. 367(2): p. 152-8.

58.       Parameswaran, K.N., et al., Hydrolysis of γ:ε isopeptides by cytosolic transglutaminases and by coagulation factor XIIIa. J Biol Chem, 1997. 272(15): p. 10311-7.

59.       Roberts, H.R. and M.D. Bingham, Other coagulation factor deficiencies, in Thrombosis and Hemorrhage, J. Loscalzo and A.I. Schafer, Editors. 2003, Lippincott Williams and Wilkins: Philadelphia, PA. p. 592-593.

60.       Lovejoy, A.E., et al., Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. Blood, 2006. 108(1): p. 57-62.

61.       Carcao, M., et al., Recombinant FXIII (rFXIII-A2) Prophylaxis Prevents Bleeding and Allows for Surgery in Patients with Congenital FXIII A-Subunit Deficiency. Thromb Haemost, 2018. 118(3): p. 451-460.

62.       Nugent, D.J., Prophylaxis in rare coagulation disorders — factor XIII deficiency. Thromb Res, 2006. 118 Suppl 1: p. S23-8.

63.       Ichinose, A., T. Asahina, and T. Kobayashi, Congenital blood coagulation factor XIII deficiency and perinatal management. Curr Drug Targets, 2005. 6(5): p. 541-9.