메뉴 건너뛰기




Volumn 35, Issue 4, 2009, Pages 416-425

Factor XI deficiency

Author keywords

Bleeding; CRM+; Factor XI; Founder effect; Inhibitors; Treatment

Indexed keywords

AMINOCAPROIC ACID; BLOOD CLOTTING FACTOR 11; FRESH FROZEN PLASMA; RECOMBINANT ACTIVATED FACTOR 7; RECOMBINANT BLOOD CLOTTING FACTOR 7A; RECOMBINANT PROTEIN; RHESUS D ANTIBODY; TRANEXAMIC ACID; UNCLASSIFIED DRUG;

EID: 67749102041     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0029-1225764     Document Type: Review
Times cited : (59)

References (87)
  • 1
    • 34447514141 scopus 로고    scopus 로고
    • Factor XI in haemostasis and thrombosis: Past, present and future
    • DOI 10.1160/TH07-04-0246
    • Seligsohn U. Factor XI in haemostasis and thrombosis: past, present and future. Thromb Haemost 2007;98:84-89 (Pubitemid 47074182)
    • (2007) Thrombosis and Haemostasis , vol.98 , Issue.1 , pp. 84-89
    • Seligsohn, U.1
  • 2
    • 77049137927 scopus 로고
    • New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor
    • 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: 171-174
    • (1953) Proc Soc Exp Biol Med , vol.82 , pp. 171-174
    • Rosenthal, R.L.1    Dreskin, O.H.2    Rosenthal, N.3
  • 4
    • 20444392057 scopus 로고    scopus 로고
    • A classification system for cross-reactive material-negative factor XI deficiency
    • DOI 10.1182/blood-2004-05-1864
    • Kravtsov DV, Monahan PE, Gailani D. A classification system for cross-reactive material-negative factor XI deficiency. Blood 2005;105:4671-4673 (Pubitemid 40807287)
    • (2005) Blood , vol.105 , Issue.12 , pp. 4671-4673
    • Kravtsov, D.V.1    Monahan, P.E.2    Gailani, D.3
  • 5
    • 0036096074 scopus 로고    scopus 로고
    • Factor XI deficiency in Iranians: Its clinical manifestations in comparison with those of classic hemophilia
    • Peyvandi F, Lak M, Mannucci PM. Factor XI deficiency in Iranians: its clinical manifestations in comparison with those of classic hemophilia. Haematologica 2002;87:512-514 (Pubitemid 34533277)
    • (2002) Haematologica , vol.87 , Issue.5 , pp. 512-514
    • Peyvandi, F.1    Lak, M.2    Mannucci, P.M.3
  • 6
    • 0028899613 scopus 로고
    • One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews
    • Shpilberg O, Peretz H, Zivelin A, et al. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. Blood 1995;85:429-432
    • (1995) Blood , vol.85 , pp. 429-432
    • Shpilberg, O.1    Peretz, H.2    Zivelin, A.3
  • 7
    • 33750111340 scopus 로고    scopus 로고
    • Spectrum of factor XI (F11) mutations in the UK population-116 index cases and 140 mutations
    • Mitchell M, Mountford R, Butler R, et al. Spectrum of factor XI (F11) mutations in the UK population-116 index cases and 140 mutations. Hum Mutat 2006;27:829
    • (2006) Hum Mutat , vol.27 , pp. 829
    • Mitchell, M.1    Mountford, R.2    Butler, R.3
  • 8
    • 43449124745 scopus 로고    scopus 로고
    • Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians
    • DOI 10.3324/haematol.12180
    • Zadra G, Asselta R, Tenchini ML, et al. Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians. Haematologica 2008;93:715-721 (Pubitemid 351669311)
    • (2008) Haematologica , vol.93 , Issue.5 , pp. 715-721
    • Zadra, G.1    Asselta, R.2    Tenchini, M.L.3    Castaman, G.4    Seligsohn, U.5    Mannucci, P.M.6    Duga, S.7
  • 9
    • 33747159859 scopus 로고    scopus 로고
    • Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy
    • DOI 10.1111/j.1365-2516.2006.01304.x
    • 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;12:490-493 (Pubitemid 44227591)
    • (2006) Haemophilia , vol.12 , Issue.5 , pp. 490-493
    • Salomon, O.1    Steinberg, D.M.2    Seligshon, U.3
  • 10
    • 0033875539 scopus 로고    scopus 로고
    • Role of blood coagulation factor XI in downregulation of fibrinolysis
    • DOI 10.1097/00062752-200009000-00002
    • Bouma BN, Meijers JC. Role of blood coagulation factor XI in downregulation of fibrinolysis. Curr Opin Hematol 2000; 7:266-272 (Pubitemid 30637664)
    • (2000) Current Opinion in Hematology , vol.7 , Issue.5 , pp. 266-272
    • Bouma, B.N.1    Meijers, J.C.M.2
  • 11
    • 0032515596 scopus 로고    scopus 로고
    • Frequency of inherited bleeding disorders in women with menorrhagia
    • DOI 10.1016/S0140-6736(97)08248-2
    • Kadir RA, Economides DL, Sabin CA, Owens D, Lee A. Frequency of inherited bleeding disorders in women with menorrhagia. Lancet 1998;351:485-489 (Pubitemid 28070095)
    • (1998) Lancet , vol.351 , Issue.9101 , pp. 485-489
    • Kadir, R.A.1    Economides, D.L.2    Sabin, C.A.3    Owens, D.4    Lee, C.A.5
  • 13
    • 38949129768 scopus 로고    scopus 로고
    • Induction of an inhibitor antibody to factor XI in a patient with severe inherited factor XI deficiency by Rh immune globulin
    • DOI 10.1182/blood-2007-08-108449
    • Zucker M, Zivelin A, Teitel J, Seligsohn U. Induction of an inhibitor antibody to factor XI in a patient with severe inherited factor XI deficiency by Rh immune globulin. Blood 2008;111:1306-1308 (Pubitemid 351213416)
    • (2008) Blood , vol.111 , Issue.3 , pp. 1306-1308
    • Zucker, M.1    Zivelin, A.2    Teitel, J.3    Seligsohn, U.4
  • 14
    • 4444331157 scopus 로고    scopus 로고
    • Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation
    • DOI 10.1111/j.1538-7836.2004.00554.x
    • Quélin F, Trossaërt M, Sigaud M, Mazancourt PD, Fressinaud E. Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. J Thromb Haemost 2004;2:71-76 (Pubitemid 40185622)
    • (2004) Journal of Thrombosis and Haemostasis , vol.2 , Issue.1 , pp. 71-76
    • Quelin, F.1    Trossaert, M.2    Sigaud, M.3    Mazancourt, P.D.E.4    Fressinaud, E.5
  • 15
    • 0020395236 scopus 로고
    • Acquired factor XI deficiency in systemic lupus erythematosus
    • Vercellotti GM, Mosher DF. Acquired factor XI deficiency in systemic lupus erythematosus. Thromb Haemost 1982;48: 250-252 (Pubitemid 13209585)
    • (1982) Thrombosis and Haemostasis , vol.48 , Issue.3 , pp. 250-252
    • Vercellotti, G.M.1    Mosher, D.F.2
  • 16
    • 67650961016 scopus 로고    scopus 로고
    • Acquired factor XI inhibitor in systemic lupus erythematosus: Case report and literature review
    • Epub ahead of print
    • Bortoli R, Monticielo OA, Chakar RM, et al. Acquired factor XI inhibitor in systemic lupus erythematosus: case report and literature review. Semin Arthritis Rheum 2009 (Epub ahead of print)
    • (2009) Semin Arthritis Rheum
    • Bortoli, R.1    Monticielo, O.A.2    Chakar, R.M.3
  • 18
    • 0034751522 scopus 로고    scopus 로고
    • The use of recombinant factor VIIa (NovoSeven) in a patient with a factor XI deficiency and a circulating anticoagulant
    • DOI 10.1097/00001721-200110000-00007
    • Billon S, Le Niger C, Escoffre-Barbe M, Vicariot M, Abgrall JF. The use of recombinant factor VIIa (NovoSeven) in a patient with a factor XI deficiency and a circulating anticoagulant. Blood Coagul Fibrinolysis 2001;12:551-553 (Pubitemid 33022519)
    • (2001) Blood Coagulation and Fibrinolysis , vol.12 , Issue.7 , pp. 551-553
    • Billon, S.1    Le Niger, C.2    Escoffre-Barbe, M.3    Vicariot, M.4    Abgrall, J.F.5
  • 19
    • 37749031770 scopus 로고    scopus 로고
    • Successful use of recombinant factor VIIa in a patient with paraneoplastic factor XI inhibitor
    • Delios G, Pollio B, Tucciarone M, et al. Successful use of recombinant factor VIIa in a patient with paraneoplastic factor XI inhibitor. Haemophilia 2008;14:160-162
    • (2008) Haemophilia , vol.14 , pp. 160-162
    • Delios, G.1    Pollio, B.2    Tucciarone, M.3
  • 20
    • 0036930609 scopus 로고    scopus 로고
    • Acquired inhibitors to coagulation factors in patients with gastrointestinal diseases
    • Kyriakou DS, Alexandrakis MG, Passam FH, et al. Acquired inhibitors to coagulation factors in patients with gastrointestinal diseases. Eur J Gastroenterol Hepatol 2002;14: 1383-1387
    • (2002) Eur J Gastroenterol Hepatol , vol.14 , pp. 1383-1387
    • Kyriakou, D.S.1    Alexandrakis, M.G.2    Passam, F.H.3
  • 21
    • 12544255307 scopus 로고    scopus 로고
    • Plasma replacement therapy during labor is not mandatory for women with severe factor XI deficiency
    • Salomon O, Steinberg DM, Tamarin I, Zivelin A, Seligsohn U. Plasma replacement therapy during labor is not mandatory for women with severe factor XI deficiency. Blood Coagul Fibrinolysis 2005;16:37-41
    • (2005) Blood Coagul Fibrinolysis , vol.16 , pp. 37-41
    • Salomon, O.1    Steinberg, D.M.2    Tamarin, I.3    Zivelin, A.4    Seligsohn, U.5
  • 22
    • 34247137962 scopus 로고    scopus 로고
    • Pregnancy outcome in Factor XI deficiency: Incidence of miscarriage, antenatal and postnatal haemorrhage in 33 women with Factor XI deficiency
    • DOI 10.1111/j.1471-0528.2007.01296.x
    • Myers B, Pavord S, Kean L, Hill M, Dolan G. Pregnancy outcome in factor XI deficiency: incidence of miscarriage, antenatal and postnatal haemorrhage in 33 women with factor XI deficiency. BJOG 2007;114:643-646 (Pubitemid 46587966)
    • (2007) BJOG: An International Journal of Obstetrics and Gynaecology , vol.114 , Issue.5 , pp. 643-646
    • Myers, B.1    Pavord, S.2    Kean, L.3    Hill, M.4    Dolan, G.5
  • 23
    • 34447260323 scopus 로고    scopus 로고
    • The incidence and outcome of intracranial haemorrhage in newborns with haemophilia: Analysis of the Nationwide Inpatient Sample database
    • Tarantino MD, Gupta SL, Brusky RM. The incidence and outcome of intracranial haemorrhage in newborns with haemophilia: analysis of the Nationwide Inpatient Sample database. Haemophilia 2007;13:380-382
    • (2007) Haemophilia , vol.13 , pp. 380-382
    • Tarantino, M.D.1    Gupta, S.L.2    Brusky, R.M.3
  • 25
    • 0036530032 scopus 로고    scopus 로고
    • Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene
    • DOI 10.1182/blood.V99.7.2448
    • Zivelin A, Bauduer F, Ducout L, et al. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood 2002;99: 2448-2454 (Pubitemid 34525431)
    • (2002) Blood , vol.99 , Issue.7 , pp. 2448-2454
    • Zivelin, A.1    Bauduer, F.2    Ducout, L.3    Peretz, H.4    Rosenberg, N.5    Yatuv, R.6    Seligsohn, U.7
  • 28
    • 43249088304 scopus 로고    scopus 로고
    • Reduced incidence of ischemic stroke in patients with severe factor XI deficiency
    • 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: 4113-4117
    • (2008) Blood , vol.111 , pp. 4113-4117
    • Salomon, O.1    Steinberg, D.M.2    Koren-Morag, N.3    Tanne, D.4    Seligsohn, U.5
  • 29
    • 0014291990 scopus 로고
    • A case of congenital factor XI (plasma thromboplastin antecedent) deficiency with large organized thrombus in the vena cava inferior
    • Umeda T, Hiramaru M, Nishino T, Onchi K, Matsuda T. A case of congenital factor XI (plasma thromboplastin antecedent) deficiency with large organized thrombus in the vena cava inferior. Nippon Ketsueki Gakkai Zasshi 1968;31:325-333
    • (1968) Nippon Ketsueki Gakkai Zasshi , vol.31 , pp. 325-333
    • Umeda, T.1    Hiramaru, M.2    Nishino, T.3    Onchi, K.4    Matsuda, T.5
  • 30
    • 0016854163 scopus 로고
    • Pulmonary embolism with factor XI deficiency
    • Brodsky JB, Burgess GE III. Pulmonary embolism with factor XI deficiency. JAMA 1975;234:1156-1157
    • (1975) JAMA , vol.234 , pp. 1156-1157
    • Brodsky, J.B.1    Burgess III, G.E.2
  • 31
    • 0030707875 scopus 로고    scopus 로고
    • Recurrent venous thromboembolic disease and factor XI concentrate in a patient with severe factor XI deficiency, chronic myelomonocytic leukaemia, factor V Leiden and heterozygous plasminogen deficiency
    • Evans G, Pasi KJ, Mehta A, Lee CA, Perry DJ. Recurrent venous thromboembolic disease and factor XI concentrate in a patient with severe factor XI deficiency, chronic myelomonocytic leukaemia, factor V Leiden and heterozygous plasminogen deficiency. Blood Coagul Fibrinolysis 1997;8:437-440 (Pubitemid 27475690)
    • (1997) Blood Coagulation and Fibrinolysis , vol.8 , Issue.7 , pp. 437-440
    • Evans, G.1    Pasi, K.J.2    Mehta, A.3    Lee, C.A.4    Perry, D.J.5
  • 33
    • 0024003403 scopus 로고
    • Factor XI deficiency in a geriatric population
    • Loeser WD, Dickstein ES. Factor XI deficiency in a geriatric population. Ohio Med 1988;84:416-417
    • (1988) Ohio Med , vol.84 , pp. 416-417
    • Loeser, W.D.1    Dickstein, E.S.2
  • 35
    • 4444269047 scopus 로고    scopus 로고
    • Recessively inherited coagulation disorders
    • Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004;104:1243-1252
    • (2004) Blood , vol.104 , pp. 1243-1252
    • Mannucci, P.M.1    Duga, S.2    Peyvandi, F.3
  • 37
    • 0037166305 scopus 로고    scopus 로고
    • Cloning and characterization of the human factor XI gene promoter: Transcription factor hepatocyte nuclear factor 4alpha (HNF-4alpha) is required for hepatocyte-specific expression of factor XI
    • DOI 10.1074/jbc.M201886200
    • Tarumi T, Kravtsov DV, Zhao M, Williams SM, Gailani D. Cloning and characterization of the human factor XI gene promoter: transcription factor hepatocyte nuclear factor 4alpha (HNF-4alpha ) is required for hepatocyte-specific expression of factor XI. J Biol Chem 2002;277:18510-18516 (Pubitemid 34952400)
    • (2002) Journal of Biological Chemistry , vol.277 , Issue.21 , pp. 18510-18516
    • Tarumi, T.1    Kravtsov, D.V.2    Zhao, M.3    Williams, S.M.4    Gailani, D.5
  • 38
    • 0032577676 scopus 로고    scopus 로고
    • Molecular cloning of platelet factor XI, an alternative splicing product of the plasma factor XI gene
    • DOI 10.1074/jbc.273.22.13787
    • Hsu TC, Shore SK, Seshsmma T, Bagasra O, Walsh PN. Molecular cloning of platelet factor XI, an alternative splicing product of the plasma factor XI gene. J Biol Chem 1998; 273:13787-13793 (Pubitemid 28268428)
    • (1998) Journal of Biological Chemistry , vol.273 , Issue.22 , pp. 13787-13793
    • Hsu, T.-C.1    Shore, S.K.2    Seshsmma, T.3    Bagasra, O.4    Walsh, P.N.5
  • 39
    • 0018406731 scopus 로고
    • Human platelets and factor XI. Localization in platelet membranes of factor XI-like activity and its functional distinction from plasma factor XI
    • Lipscomb MS, Walsh PN. Human platelets and factor XI. Localization in platelet membranes of factor XI-like activity and its functional distinction from plasma factor XI. J Clin Invest 1979;63:1006-1014
    • (1979) J Clin Invest , vol.63 , pp. 1006-1014
    • Lipscomb, M.S.1    Walsh, P.N.2
  • 40
    • 0019948836 scopus 로고
    • Factor XI antigen and activity in human platelets
    • Tuszynski GP, Bevacqua SJ, Schmaier AH, Colman RW, Walsh PN. Factor XI antigen and activity in human platelets. Blood 1982;59:1148-1156 (Pubitemid 12074840)
    • (1982) Blood , vol.59 , Issue.6 , pp. 1148-1156
    • Tuszynski, G.P.1    Bevacqua, S.J.2    Schmaier, A.H.3
  • 41
    • 0034911688 scopus 로고    scopus 로고
    • Roles of platelets and factor XI in the initiation of blood coagulation by thrombin
    • Walsh PN. Roles of platelets and factor XI in the initiation of blood coagulation by thrombin. Thromb Haemost 2001;86: 75-82 (Pubitemid 32663939)
    • (2001) Thrombosis and Haemostasis , vol.86 , Issue.1 , pp. 75-82
    • Walsh, P.N.1
  • 42
    • 13244287731 scopus 로고    scopus 로고
    • Real-time quantitative PCR analysis of factor XI mRNA variants in human platelets
    • DOI 10.1111/j.1538-7836.2004.00924.x
    • Podmore A, Smith M, Savidge G, Alhaq A. Real-time quantitative PCR analysis of factor XI mRNA variants in human platelets. J Thromb Haemost 2004;2:1713-1719 (Pubitemid 40192710)
    • (2004) Journal of Thrombosis and Haemostasis , vol.2 , Issue.10 , pp. 1713-1719
    • Podmore, A.1    Smith, M.2    Savidge, G.3    Alhaq, A.4
  • 43
    • 29144463196 scopus 로고    scopus 로고
    • A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency
    • Soldà G, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S. A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency. Haematologica 2005;90:1716-1718 (Pubitemid 41815007)
    • (2005) Haematologica , vol.90 , Issue.12 , pp. 1716-1718
    • Solda, G.1    Asselta, R.2    Ghiotto, R.3    Tenchini, M.L.4    Castaman, G.5    Duga, S.6
  • 44
    • 67749094421 scopus 로고    scopus 로고
    • Characterization of the F11 alternative splicing pattern: Identification of a novel coagulation FXI isoform
    • PW003
    • Guella I, Asselta R, Rimoldi V, Tenchini ML, Duga S. Characterization of the F11 alternative splicing pattern: identification of a novel coagulation FXI isoform. J Thromb Haemost 2007;5(Suppl 2):PW003
    • (2007) J Thromb Haemost , vol.5 , Issue.SUPPL. 2
    • Guella, I.1    Asselta, R.2    Rimoldi, V.3    Tenchini, M.L.4    Duga, S.5
  • 45
    • 19344366251 scopus 로고    scopus 로고
    • Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells
    • DOI 10.1016/j.ceb.2005.03.002, PII S0955067405000426, Nucleus and Gene Expression
    • Lejeune F, Maquat LE. Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr Opin Cell Biol 2005;17:309-315 (Pubitemid 40719922)
    • (2005) Current Opinion in Cell Biology , vol.17 , Issue.3 , pp. 309-315
    • Lejeune, F.1    Maquat, L.E.2
  • 46
    • 0017700478 scopus 로고
    • Association of factor XI and high molecular weight kininogen in human plasma
    • Thompson RE, Mandle RJr, Kaplan AP. Association of factor XI and high molecular weight kininogen in human plasma. J Clin Invest 1977;60:1376-1380 (Pubitemid 8238653)
    • (1977) Journal of Clinical Investigation , vol.60 , Issue.6 , pp. 1376-1380
    • Thompson, R.E.1    Mandle Jr., R.2    Kaplan, A.P.3
  • 47
    • 0023043178 scopus 로고
    • Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein
    • Fujikawa K, Chung DW, Hendrickson LE, Davie EW. Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein. Biochemistry 1986; 25:2417-2424
    • (1986) Biochemistry , vol.25 , pp. 2417-2424
    • Fujikawa, K.1    Chung, D.W.2    Hendrickson, L.E.3    Davie, E.W.4
  • 48
    • 0025975587 scopus 로고
    • Location of the disulfide bonds in human coagulation factor XI: The presence of tandem apple domains
    • McMullen BA, Fujikawa K, Davie EW. Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains. Biochemistry 1991;30:2056-2060
    • (1991) Biochemistry , vol.30 , pp. 2056-2060
    • McMullen, B.A.1    Fujikawa, K.2    Davie, E.W.3
  • 49
  • 50
    • 0036796423 scopus 로고    scopus 로고
    • Molecular cloning and biochemical characterization of rabbit factor XI
    • DOI 10.1042/BJ20020232
    • Sinha D, Marcinkiewicz M, Gailani D, Walsh PN. Molecular cloning and biochemical characterization of rabbit factor XI. Biochem J 2002;367(Pt 1):49-56 (Pubitemid 35176890)
    • (2002) Biochemical Journal , vol.367 , Issue.1 , pp. 49-56
    • Sinha, D.1    Marcinkiewicz, M.2    Gailani, D.3    Walsh, P.N.4
  • 51
    • 49649099783 scopus 로고    scopus 로고
    • Factor XI homodimer structure is essential for normal proteolytic activation by factor XIIa, thrombin, and factor XIa
    • Wu W, Sinha D, Shikov S, et al. Factor XI homodimer structure is essential for normal proteolytic activation by factor XIIa, thrombin, and factor XIa. J Biol Chem 2008; 283:18655-18664
    • (2008) J Biol Chem , vol.283 , pp. 18655-18664
    • Wu, W.1    Sinha, D.2    Shikov, S.3
  • 52
    • 0025874052 scopus 로고
    • Factor XI activation in a revised model of blood coagulation
    • Gailani D, Broze GJ Jr. Factor XI activation in a revised model of blood coagulation. Science 1991;253:909-912 (Pubitemid 21917236)
    • (1991) Science , vol.253 , Issue.5022 , pp. 909-912
    • Gailani, D.1    Broze Jr., G.J.2
  • 53
    • 0017900590 scopus 로고
    • Activation of human factor IX (Christmas factor)
    • Di Scipio RG, Kurachi K, Davie EW. Activation of human factor IX (Christmas factor). J Clin Invest 1978;61:1528-1538
    • (1978) J Clin Invest , vol.61 , pp. 1528-1538
    • Di Scipio, R.G.1    Kurachi, K.2    Davie, E.W.3
  • 54
    • 0028843737 scopus 로고
    • Feedback activation of factor XI by thrombin in plasma results in additional formation of thrombin that protects fibrin clots from fibrinolysis
    • von dem Borne PAK, Meijers JCM, Bouma BN. Feedback activation of factor XI by thrombin in plasma results in additional formation of thrombin that protects fibrin clots from fibrinolysis. Blood 1995;86:3035-3042
    • (1995) Blood , vol.86 , pp. 3035-3042
    • Von Dem Borne, P.A.K.1    Meijers, J.C.M.2    Bouma, B.N.3
  • 55
    • 35848963637 scopus 로고    scopus 로고
    • Retraction of: " Baglia FA, Walsh PN. Biochemistry. 1998 Feb 24;37(8):2271-81
    • Walsh PN. Retraction of: " Baglia FA, Walsh PN. Biochemistry. 1998 Feb 24;37(8):2271-81. Biochemistry 2007;46:12886-12887
    • (2007) Biochemistry , vol.46 , pp. 12886-12887
    • Walsh, P.N.1
  • 61
    • 24344435451 scopus 로고    scopus 로고
    • Factor XI deficiency database: An interactive web database of mutations, phenotypes, and structural analysis tools
    • 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;26:192-198
    • (2005) Hum Mutat , vol.26 , pp. 192-198
    • Saunders, R.E.1    O'Connell, N.M.2    Lee, C.A.3    Perry, D.J.4    Perkins, S.J.5
  • 62
    • 18944401610 scopus 로고    scopus 로고
    • Coagulation factor XI: A database of mutations and polymorphisms associated with factor XI deficiency
    • Dossenbach-Glaninger A, Hopmeier P. Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency. Blood Coagul Fibrinolysis 2005; 16:231-238 (Pubitemid 40705043)
    • (2005) Blood Coagulation and Fibrinolysis , vol.16 , Issue.4 , pp. 231-238
    • Dossenbach-Glaninger, A.1    Hopmeier, P.2
  • 63
    • 0032211183 scopus 로고    scopus 로고
    • Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting
    • Martincic D, Zimmerman SA, Ware RE, Sun MF, Whitlock JA, Gailani D. Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting. Blood 1998;92:3309-3317 (Pubitemid 28492339)
    • (1998) Blood , vol.92 , Issue.9 , pp. 3309-3317
    • Martincic, D.1    Zimmerman, S.A.2    Ware, R.E.3    Sun, M.-F.4    Whitlock, J.A.5    Gailani, D.6
  • 64
    • 13244298150 scopus 로고    scopus 로고
    • Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): A cross-reactive material positive variant defective in factor IX activation
    • DOI 10.1111/j.1538-7836.2004.00882.x
    • Zivelin A, Ogawa T, Bulvik S, et al. Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in factor IX activation. J Thromb Haemost 2004;2:1782-1789 (Pubitemid 40192720)
    • (2004) Journal of Thrombosis and Haemostasis , vol.2 , Issue.10 , pp. 1782-1789
    • Zivelin, A.1    Ogawa, T.2    Bulvik, S.3    Landau, M.4    Toomey, J.R.5    Lane, J.6    Seligsohn, U.7    Gailani, D.8
  • 65
    • 15244349227 scopus 로고    scopus 로고
    • Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency
    • Germanos-Haddad M, de Moerloose P, Boehlen F, Peyvandi F, Neerman-Arbez M. Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. Haematologica 2005;90:418-419 (Pubitemid 40389001)
    • (2005) Haematologica , vol.90 , Issue.3 , pp. 418-419
    • Germanos-Haddad, M.1    De Moerloose, P.2    Boehlen, F.3    Peyvandi, F.4    Neerman-Arbez, M.5
  • 69
    • 4944221562 scopus 로고    scopus 로고
    • An Alu-mediated 31.5-kb deletion as the cause of factor XI deficiency in 2 unrelated patients
    • DOI 10.1182/blood-2004-04-1318
    • Mitchell M, Dai L, Savidge G, Alhaq A. An Alu-mediated 31.5-kb deletion as the cause of factor XI deficiency in 2 unrelated patients. Blood 2004;104:2394-2396 (Pubitemid 39331838)
    • (2004) Blood , vol.104 , Issue.8 , pp. 2394-2396
    • Mitchell, M.1    Dai, L.2    Savidge, G.3    Alhaq, A.4
  • 71
    • 0012992989 scopus 로고
    • Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations
    • Asakai R, Chung DW, Ratnoff OD, Davie EW. Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci U S A 1989;86:7667-7671
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 7667-7671
    • Asakai, R.1    Chung, D.W.2    Ratnoff, O.D.3    Davie, E.W.4
  • 72
    • 0030006913 scopus 로고    scopus 로고
    • A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency
    • DOI 10.1002/(SICI)1098-1004(1996)8:1<77::AID-HUMU12>3.0.CO;2-O
    • Peretz H, Zivelin A, Usher S, Seligsohn U. A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency. Hum Mutat 1996; 8:77-78 (Pubitemid 26238974)
    • (1996) Human Mutation , vol.8 , Issue.1 , pp. 77-78
    • Peretz, H.1    Zivelin, A.2    Usher, S.3    Seligsohn, U.4
  • 74
    • 0026606348 scopus 로고
    • Expression of human blood coagulation factor XI: Characterization of the defect in factor XI type III deficiency
    • Meijers JC, Davie EW, Chung DW. Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. Blood 1992;79:1435-1440
    • (1992) Blood , vol.79 , pp. 1435-1440
    • Meijers, J.C.1    Davie, E.W.2    Chung, D.W.3
  • 76
    • 42249109383 scopus 로고    scopus 로고
    • Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect
    • DOI 10.1160/TH07-12-0723
    • Guella I, Soldà G, Spena S, et al. Molecular characterization of two novel mutations causing factor XI deficiency: a splicing defect and a missense mutation responsible for a CRM+ defect. Thromb Haemost 2008;99:523-530 (Pubitemid 351549288)
    • (2008) Thrombosis and Haemostasis , vol.99 , Issue.3 , pp. 523-530
    • Guella, I.1    Solda, G.2    Spena, S.3    Asselta, R.4    Ghiotto, R.5    Tenchini, M.L.6    Castaman, G.7    Duga, S.8
  • 78
    • 0038015838 scopus 로고    scopus 로고
    • Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography
    • DOI 10.1046/j.1365-2141.2003.04302.x
    • Mitchell M, Harrington P, Cutler J, Rangarajan S, Savidge G, Alhaq A. Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography. Br J Haematol 2003;121:500-502 (Pubitemid 36628345)
    • (2003) British Journal of Haematology , vol.121 , Issue.3 , pp. 500-502
    • Mitchell, M.1    Harrington, P.2    Cutler, J.3    Rangarajan, S.4    Savidge, G.5    Alhaq, A.6
  • 80
    • 0028122941 scopus 로고
    • Activation of the coagulation cascade after infusion of a factor XI concentrate in congenitally deficient patients
    • Mannucci PM, Bauer KA, Santagostino E, et al. Activation of the coagulation cascade after infusion of a factor XI concentrate in congenitally deficient patients. Blood 1994; 15:1314-1319 (Pubitemid 24245901)
    • (1994) Blood , vol.84 , Issue.4 , pp. 1314-1319
    • Mannucci, P.M.1    Bauer, K.A.2    Santagostino, E.3    Faioni, E.4    Barzegar, S.5    Coppola, R.6    Rosenberg, R.D.7
  • 81
    • 31444452752 scopus 로고    scopus 로고
    • Inhibitors to factor XI in patients with severe factor XI deficiency
    • DOI 10.1053/j.seminhematol.2005.11.018, PII S0037196305002258
    • Salomon O, Zivelin A, Livnat T, Seligsohn U. Inhibitors to factor XI in patients with severe factor XI deficiency. Semin Hematol 2006;43(1, Suppl 1):S10-S12 (Pubitemid 43150492)
    • (2006) Seminars in Hematology , vol.43 , Issue.SUPPL. 1
    • Salomon, O.1    Zivelin, A.2    Livnat, T.3    Seligsohn, U.4
  • 82
    • 47649083020 scopus 로고    scopus 로고
    • Recombinant factor VIIa to prevent surgical bleeding in factor XI deficiency
    • DOI 10.1111/j.1365-2516.2008.01663.x
    • O'Connell NM, Riddell AF, Pascoe G, Perry DJ, Lee CA. Recombinant factor VIIa to prevent surgical bleeding in factor XI deficiency. Haemophilia 2008;14:775-781 (Pubitemid 352016034)
    • (2008) Haemophilia , vol.14 , Issue.4 , pp. 775-781
    • O'Connell, N.M.1    Riddell, A.F.2    Pascoe, G.3    Perry, D.J.4    Lee, C.A.5
  • 83
    • 33645998736 scopus 로고    scopus 로고
    • An illustrative case and a review on the dosing of recombinant factor VIIa in congenital factor XI deficiency
    • Schulman S, Nemeth G. An illustrative case and a review on the dosing of recombinant factor VIIa in congenital factor XI deficiency. Haemophilia 2006;12:223-227
    • (2006) Haemophilia , vol.12 , pp. 223-227
    • Schulman, S.1    Nemeth, G.2
  • 84
    • 0035135796 scopus 로고    scopus 로고
    • A comparison FVII:C and FVIIa assays for the monitoring of recombinant factor VIIa treatment
    • DOI 10.1046/j.1365-2516.2001.00478.x
    • Cid AR, Lorenzo JI, Haya S, Montoro JM, Casaña P, Aznar JA. A comparison of FVII:C and FVIIa assays for the monitoring of recombinant factor VIIa treatment. Haemophilia 2001;7:39-41 (Pubitemid 32162196)
    • (2001) Haemophilia , vol.7 , Issue.1 , pp. 39-41
    • Cid, A.R.1    Lorenzo, J.I.2    Haya, S.3    Montoro, J.M.4    Casana, P.5    Aznar, J.A.6
  • 85
    • 33644858358 scopus 로고    scopus 로고
    • Prerequisites for recombinant factor VIIa-induced thrombin generation in plasmas deficient in factors VIII, IX or XI
    • Livnat T, Zivelin A, Martinowitz U, Salomon O, Seligsohn U. Prerequisites for recombinant factor VIIa-induced thrombin generation in plasmas deficient in factors VIII, IX or XI. J Thromb Haemost 2006;4:192-200
    • (2006) J Thromb Haemost , vol.4 , pp. 192-200
    • Livnat, T.1    Zivelin, A.2    Martinowitz, U.3    Salomon, O.4    Seligsohn, U.5
  • 86
    • 34249821653 scopus 로고    scopus 로고
    • Prevention and treatment of major blood loss
    • Mannucci PM, Levi M. Prevention and treatment of major blood loss. N Engl J Med 2007;356:2301-2311
    • (2007) N Engl J Med , vol.356 , pp. 2301-2311
    • Mannucci, P.M.1    Levi, M.2
  • 87
    • 0033968802 scopus 로고    scopus 로고
    • Prophylactic use of desmopressin in surgery of six patient with symptomatic heterozygous factor XI deficiency
    • Franchini M, de Gironcoli M, Lippi G, Manzato F, Aprili G, Gandini G. Prophylactic use of desmopressin in surgery of six patients with symptomatic heterozygous factor XI deficiency. Haematologica 2000;85:106-107 (Pubitemid 30096905)
    • (2000) Haematologica , vol.85 , Issue.1 , pp. 106-107
    • Franchini, M.1    De Gironcoli, M.2    Lippi, G.3    Manzato, F.4    Aprili, G.5    Gandini, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.