Factor XI Deficiency

References

1.         Rosenthal RL, Dreskin OH, Rosenthal N. New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. Proc Soc Exp Biol Med. 1953;82:171-4.

2.         Rosenthal RL, Dreskin OH, Rosenthal N. Plasma thromboplastin antecedent (PTA) deficiency; clinical, coagulation, therapeutic and hereditary aspects of a new hemophilia-like disease. Blood. 1955;10:120-31.

3.         Papagrigoriou E, McEwan PA, Walsh PN, Emsley J. Crystal structure of the factor XI zymogen reveals a pathway for transactivation. Nat Struct Mol Biol. 2006;13:557-8.

4.         Gailani D, Broze GJ, Jr. Factor XI activation by thrombin and factor XIa. Semin Thromb Hemost. 1993;19:396-404.

5.         Emsley J, McEwan PA, Gailani D. Structure and function of factor XI. Blood. 2010;115:2569-77.

6.         Gailani D, Bane CE, Gruber A. Factor XI and contact activation as targets for antithrombotic therapy. J Thromb Haemost. 2015;13:1383-95.

7.         Jämsä A, Spronk HMH, Gailani D, Mackman N, Renné T. A Critical Role of Factor XI Feedback Activation for Placental Hemostasis. Research and Practice in Thrombosis and Haemostasis. 2017;1:108.

8.         Muller F, Gailani D, Renne T. Factor XI and XII as antithrombotic targets. Curr Opin Hematol. 2011;18:349-55.

9.         Choi SH, Smith SA, Morrissey JH. Polyphosphate is a cofactor for the activation of factor XI by thrombin. Blood. 2011;118:6963-70.

10.       Puy C, Tucker EI, Ivanov IS, Gailani D, Smith SA, Morrissey JH, et al. Platelet-Derived Short-Chain Polyphosphates Enhance the Inactivation of Tissue Factor Pathway Inhibitor by Activated Coagulation Factor XI. PLoS One. 2016;11:e0165172.

11.       Asakai R, Davie EW, Chung DW. Organization of the gene for human factor XI. Biochemistry. 1987;26:7221-8.

12.       Asakai R, Chung DW, Davie EW, Seligsohn U. Factor XI deficiency in Ashkenazi Jews in Israel. N Engl J Med. 1991;325:153-8.

13.       Kravtsov DV, Monahan PE, Gailani D. A classification system for cross-reactive material-negative factor XI deficiency. Blood. 2005;105:4671-3.

14.       Kravtsov DV, Wu W, Meijers JC, Sun MF, Blinder MA, Dang TP, et al. Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. Blood. 2004;104:128-34.

15.       Pike GN, Cumming AM, Hay CR, Sempasa B, Sutherland M, Thachil J, et al. In vitro comparison of the effect of two factor XI (FXI) concentrates on thrombin generation in major FXI deficiency. Haemophilia. 2016;22:403-10.

16.       Peyvandi F, Di Michele D, Bolton-Maggs PH, Lee CA, Tripodi A, Srivastava A, et al. Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity. J Thromb Haemost. 2012;10:1938-43.

17.       Mohammed BM, Cheng Q, Matafonov A, Puy C, Gruber A, McCarty OJT, et al. A Non-Circulating Pool of Factor XI. Research and Practice in Thrombosis and Haemostasis. 2017;1:108.

18.       Rugeri L, Quelin F, Chatard B, De Mazancourt P, Negrier C, Dargaud Y. Thrombin generation in patients with factor XI deficiency and clinical bleeding risk. Haemophilia. 2010;16:771-7.

19.       Pike GN, Cumming AM, Hay CR, Bolton-Maggs PH, Burthem J. Sample conditions determine the ability of thrombin generation parameters to identify bleeding phenotype in FXI deficiency. Blood. 2015;126:397-405.

20.       Hemker HC. Thrombin generation: biochemical possibilities and clinical reality. Blood. 2015;126:288-9.

21.       Gidley GN, Holle LA, Burthem J, Bolton-Maggs PHB, Lin F-C, Wolberg AS. Abnormal plasma clot formation and fibrinolysis reveal bleeding tendency in patients with partial factor XI deficiency. Blood Advances. 2018;2:1076-88.

22.       Sun MF, Ho D, Martincic D, Ware RE, Walsh PN, Gailani D. Defective binding of factor XI-N248 to activated human platelets. Blood. 2007;110:4164.

23.       Bolton-Maggs PH, Patterson DA, Wensley RT, Tuddenham EG. Definition of the bleeding tendency in factor XI-deficient kindreds–a clinical and laboratory study. Thromb Haemost. 1995;73:194-202.

24.       Bolton-Maggs PH, Young Wan-Yin B, McCraw AH, Slack J, Kernoff PB. Inheritance and bleeding in factor XI deficiency. Br J Haematol. 1988;69:521-8.

25.       Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost. 2012;10:615-21.

26.       Seligsohn U. High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews. Blood. 1978;51:1223-8.

27.       Hancock JF, Wieland K, Pugh RE, Martinowitz U, Schulman S, Kakkar VV, et al. A molecular genetic study of factor XI deficiency. Blood. 1991;77:1942-8.

28.       Seligsohn U. Factor XI deficiency in humans. J Thromb Haemost. 2009;7 Suppl 1:84-7.

29.       Bolton-Maggs PH, Peretz H, Butler R, Mountford R, Keeney S, Zacharski L, et al. A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. J Thromb Haemost. 2004;2:918-24.

30.       Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, Yatuv R, et al. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood. 2002;99:2448-54.

31.       Bolton-Maggs PH. Factor XI deficiency and its management. Haemophilia. 2000;6 Suppl 1:100-9.

32.       Salomon O, Steinberg DM, Seligshon U. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy. Haemophilia. 2006;12:490-3.

33.       Kadir RA, Economides DL, Lee CA. Factor XI deficiency in women. Am J Hematol. 1999;60:48-54.

34.       Kadir RA, Kingman CE, Chi C, O’Connell N M, Riddell A, Lee CA, et al. Screening for factor XI deficiency amongst pregnant women of Ashkenazi Jewish origin. Haemophilia. 2006;12:625-8.

35.       Kadir RA, Sharief LA, Lee CA. Inherited bleeding disorders in older women. Maturitas. 2012;72:35-41.

36.       Wiewel-Verschueren S, Meijer K. Gynaecological and obstetrical bleeding in women with factor XI deficiency – a systematic review: response to rebuttal. Haemophilia. 2016;22:e436-7.

37.       Bolton-Maggs PH. Factor XI deficiency–resolving the enigma? Hematology Am Soc Hematol Educ Program. 2009:97-105.

38.       Livnat T, Tamarin I, Mor Y, Winckler H, Horowitz Z, Korianski Y, et al. Recombinant activated factor VII and tranexamic acid are haemostatically effective during major surgery in factor XI-deficient patients with inhibitor antibodies. Thromb Haemost. 2009;102:487-92.

39.       Bolton-Maggs PH, Wensley RT, Kernoff PB, Kasper CK, Winkelman L, Lane RS, et al. Production and therapeutic use of a factor XI concentrate from plasma. Thromb Haemost. 1992;67:314-9.

40.       Bolton-Maggs PH, Colvin BT, Satchi BT, Lee CA, Lucas GS. Thrombogenic potential of factor XI concentrate. Lancet. 1994;344:748-9.

41.       Bolton-Maggs P, Goudemand J, Hermans C, Makris M, de Moerloose P. FXI concentrate use and risk of thrombosis. Haemophilia. 2014;20:e349-51.

42.       Pike GN, Bolton-Maggs PH. Factor XI-related thrombosis and the role of concentrate treatment in factor XI deficiency. Haemophilia. 2015;21:477-80.

43.       Batty P, Honke A, Bowles L, Hart DP, Pasi KJ, Uprichard J, et al. Ongoing risk of thrombosis with factor XI concentrate: 5 years experience in two centres. Haemophilia. 2015;21:490-5.

44.       Bauduer F, de Raucourt E, Boyer-Neumann C, Trossaert M, Beurrier P, Faradji A, et al. Factor XI replacement for inherited factor XI deficiency in routine clinical practice: results of the HEMOLEVEN prospective 3-year postmarketing study. Haemophilia. 2015;21:481-9.

45.       Ling G, Kagdi H, Subel B, Chowdary P, Gomez K. Safety and efficacy of factor XI (FXI) concentrate use in patients with FXI deficiency: a single-centre experience of 19 years. Haemophilia. 2016;22:411-8.

46.       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’ Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol. 2014;167:304-26.

47.       Berliner S, Horowitz I, Martinowitz U, Brenner B, Seligsohn U. Dental surgery in patients with severe factor XI deficiency without plasma replacement. Blood Coagul Fibrinolysis. 1992;3:465-8.

48.       Salomon O, Zivelin A, Livnat T, Seligsohn U. Inhibitors to Factor XI in patients with severe Factor XI deficiency. Semin Hematol. 2006;43:S10-2.

49.       LFB. Hemoleven International Guidance Document. 2016.

50.       Gueguen P, Galinat H, Blouch MT, Bridey F, Duchemin J, Le Gal G, et al. Biological determinants of bleeding in patients with heterozygous factor XI deficiency. Br J Haematol. 2012;156:245-51.

51.       von dem Borne PA, Cox LM, Bouma BN. Factor XI enhances fibrin generation and inhibits fibrinolysis in a coagulation model initiated by surface-coated tissue factor. Blood Coagul Fibrinolysis. 2006;17:251-7.

52.       Salomon O, Steinberg DM, Koren-Morag N, Tanne D, Seligsohn U. Reduced incidence of ischemic stroke in patients with severe factor XI deficiency. Blood. 2008;111:4113-7.

53.       Salomon O, Steinberg DM, Zucker M, Varon D, Zivelin A, Seligsohn U. Patients with severe factor XI deficiency have a reduced incidence of deep-vein thrombosis. Thromb Haemost. 2011;105:269-73.

54.       Salomon O, Steinberg DM, Dardik R, Rosenberg N, Zivelin A, Tamarin I, et al. Inherited factor XI deficiency confers no protection against acute myocardial infarction. J Thromb Haemost. 2003;1:658-61.

55.       Schumacher WA, Luettgen JM, Quan ML, Seiffert DA. Inhibition of factor XIa as a new approach to anticoagulation. Arterioscler Thromb Vasc Biol. 2010;30:388-92.

56.       Younis HS, Crosby J, Huh JI, Lee HS, Rime S, Monia B, et al. Antisense inhibition of coagulation factor XI prolongs APTT without increased bleeding risk in cynomolgus monkeys. Blood. 2012;119:2401-8.

57.       Zhang H, Lowenberg EC, Crosby JR, MacLeod AR, Zhao C, Gao D, et al. Inhibition of the intrinsic coagulation pathway factor XI by antisense oligonucleotides: a novel antithrombotic strategy with lowered bleeding risk. Blood. 2010;116:4684-92.

58.       Weitz JI. Factor XI and factor XII as targets for new anticoagulants. Thromb Res. 2016;141 Suppl 2:S40-5.

59.       Thomas D, Thelen K, Mey Dvd, Schwers S, Schiffer S, Unger S, et al. First Evaluation of the Safety, Pharmacokinetics and Pharmacodynamics of BAY 1213790, a Full Human IgG1 Antibody Targeting Coagulation Factor XIa, in Healthy Young Men. Research and Practice in Thrombosis and Haemostasis. 2017;1:392.

60.       Buller HR, Gailani D, Weitz JI. Factor XI antisense oligonucleotide for venous thrombosis. N Engl J Med. 2015;372:1672.

61.       Sennblad B, Basu S, Mazur J, Suchon P, Martinez-Perez A, van Hylckama Vlieg A, et al. Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels. Hum Mol Genet. 2017;26:637-49.

62.       Saunders RE, O’Connell NM, Lee CA, Perry DJ, Perkins SJ. Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools. Hum Mutat. 2005;26:192-8.

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