메뉴 건너뛰기




Volumn 97, Issue 6, 2007, Pages 914-921

International registry of factor XIII dediciency: A Basis formed mostly on European data

Author keywords

FXIII deficiency; Genotyping; International FXIII registry; Phenotyping

Indexed keywords

BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 13 CONCENTRATE; BLOOD CLOTTING FACTOR 13A; BLOOD CLOTTING FACTOR 13B; FRESH FROZEN PLASMA; PLASMA SUBSTITUTE;

EID: 34250758556     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH07-01-0034     Document Type: Article
Times cited : (129)

References (28)
  • 1
    • 0034924217 scopus 로고    scopus 로고
    • Physiopathology and regulation of factor XIII
    • Ichinose A. Physiopathology and regulation of factor XIII. Thromb Haemost 2001; 86: 57-65.
    • (2001) Thromb Haemost , vol.86 , pp. 57-65
    • Ichinose, A.1
  • 3
    • 33947268119 scopus 로고
    • A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency
    • Duckert F, Jung E, Schmerling DH. A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. Thromb Diath Haemorrh 1960; 5: 179-186.
    • (1960) Thromb Diath Haemorrh , vol.5 , pp. 179-186
    • Duckert, F.1    Jung, E.2    Schmerling, D.H.3
  • 4
    • 33645539709 scopus 로고    scopus 로고
    • Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder
    • Schroeder V, Meili E, Cung T, et al. Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder. Thromb Haemost 2006; 95: 77-84.
    • (2006) Thromb Haemost , vol.95 , pp. 77-84
    • Schroeder, V.1    Meili, E.2    Cung, T.3
  • 5
    • 0015935236 scopus 로고
    • Human Factor XIII from plasma and platelets. Molecular weights, subunit structures, proteolytic activation, and cross-linking of fibrinogen and fibrin
    • Schwartz ML, Pizzo SV, Hill RL, et al. Human Factor XIII from plasma and platelets. Molecular weights, subunit structures, proteolytic activation, and cross-linking of fibrinogen and fibrin. J Biol Chem 1973; 248: 1395-1407.
    • (1973) J Biol Chem , vol.248 , pp. 1395-1407
    • Schwartz, M.L.1    Pizzo, S.V.2    Hill, R.L.3
  • 6
    • 0028226016 scopus 로고
    • Three-dimensional structure of a transglutaminase: Human blood coagulation factor XIII
    • Yee VC, Pedersen LC, Le Trong I, et al. Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII. Proc Natl Acad Sci USA 1994; 91: 7296-7300.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 7296-7300
    • Yee, V.C.1    Pedersen, L.C.2    Le Trong, I.3
  • 7
    • 0029064315 scopus 로고
    • Structural evidence that the activation peptide is not released upon thrombin cleavage of factor XIII
    • Yee VC, Pedersen LC, Bishop PD, et al. Structural evidence that the activation peptide is not released upon thrombin cleavage of factor XIII. Thromb Res 1995; 78: 389-397.
    • (1995) Thromb Res , vol.78 , pp. 389-397
    • Yee, V.C.1    Pedersen, L.C.2    Bishop, P.D.3
  • 8
    • 0022496583 scopus 로고
    • Amino acid sequence of the b subunit of human factor XIII, a protein composed of ten repetitive segments
    • Ichinose A, McMullen BA, Fujikawa K, et al. Amino acid sequence of the b subunit of human factor XIII, a protein composed of ten repetitive segments. Biochemistry 1986; 25: 4633-4638.
    • (1986) Biochemistry , vol.25 , pp. 4633-4638
    • Ichinose, A.1    McMullen, B.A.2    Fujikawa, K.3
  • 9
    • 8044259620 scopus 로고    scopus 로고
    • ETRO Working Party on Factor XIII questionnaire on congenital factor XIII deficiency in Europe: Status and perspectives. Study Group
    • Seitz R, Duckert F, Lopaciuk S, 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: 415-418.
    • (1996) Semin Thromb Hemost , vol.22 , pp. 415-418
    • Seitz, R.1    Duckert, F.2    Lopaciuk, S.3
  • 10
    • 0025800138 scopus 로고
    • Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1)
    • Polymeropoulos MH, Rath DS, Xiao H, et al. Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nucleic Acids Res 1991; 19: 4306.
    • (1991) Nucleic Acids Res , vol.19 , pp. 4306
    • Polymeropoulos, M.H.1    Rath, D.S.2    Xiao, H.3
  • 11
    • 17144445992 scopus 로고    scopus 로고
    • Delayed umbilical bleeding - a presenting feature for factor XIII deficiency: Clinical features, genetics, and management
    • Anwar R, Minford A, Gallivan L, et al. Delayed umbilical bleeding - a presenting feature for factor XIII deficiency: clinical features, genetics, and management. Pediatrics 2002; 109: E32.
    • (2002) Pediatrics , vol.109
    • Anwar, R.1    Minford, A.2    Gallivan, L.3
  • 12
    • 0024368363 scopus 로고
    • Congenital factor XIII deficiency with multiple benign breast tumours and successful pregnancy with substitutive therapy. A case report
    • Boda Z, Pfliegler G, Muszbek L, et al. Congenital factor XIII deficiency with multiple benign breast tumours and successful pregnancy with substitutive therapy. A case report. Haemostasis 1989; 19: 348-352.
    • (1989) Haemostasis , vol.19 , pp. 348-352
    • Boda, Z.1    Pfliegler, G.2    Muszbek, L.3
  • 13
    • 0028233152 scopus 로고
    • Deficiency in the A-subunit of coagulation factor XIII: Two novel pointmutations demonstrate different effects on transcript levels
    • Mikkola H, Syrjala M, Rasi V, et al. Deficiency in the A-subunit of coagulation factor XIII: two novel pointmutations demonstrate different effects on transcript levels. Blood 1994; 84: 517-525.
    • (1994) Blood , vol.84 , pp. 517-525
    • Mikkola, H.1    Syrjala, M.2    Rasi, V.3
  • 14
    • 0031055171 scopus 로고    scopus 로고
    • Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: A splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA
    • Mikkola H, Muszbek L, Laiho E, et al. Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA. Blood 1997; 89: 1279-1287.
    • (1997) Blood , vol.89 , pp. 1279-1287
    • Mikkola, H.1    Muszbek, L.2    Laiho, E.3
  • 15
    • 0017725091 scopus 로고
    • Congenital deficiency of factor XIII with normal subunit S and lack of subunit A. Report of a new family
    • Girolami A, Burul A, Sticchi A. Congenital deficiency of factor XIII with normal subunit S and lack of subunit A. Report of a new family. Acta Haematol 1977; 58: 17-26.
    • (1977) Acta Haematol , vol.58 , pp. 17-26
    • Girolami, A.1    Burul, A.2    Sticchi, A.3
  • 16
    • 0018092682 scopus 로고
    • Studies on factor XIII antigen in congenital factor XIII deficiency. A tentative classification of the disease in two groups
    • Girolami A, Burul A, Fabris F, et al. Studies on factor XIII antigen in congenital factor XIII deficiency. A tentative classification of the disease in two groups. Folia Haematol Int Mag Klin Morphol Blutforsch 1978; 105: 131-141.
    • (1978) Folia Haematol Int Mag Klin Morphol Blutforsch , vol.105 , pp. 131-141
    • Girolami, A.1    Burul, A.2    Fabris, F.3
  • 17
    • 0029048415 scopus 로고
    • A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency
    • Vreken P, Niessen RW, Peters M, et al. A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency. Thromb Haemost 1995; 74: 584-589.
    • (1995) Thromb Haemost , vol.74 , pp. 584-589
    • Vreken, P.1    Niessen, R.W.2    Peters, M.3
  • 18
    • 0031860623 scopus 로고    scopus 로고
    • New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance
    • Anwar R, Miloszewski KJ, Markham AF. New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance. Thromb Haemost 1998; 79: 1151-1156.
    • (1998) Thromb Haemost , vol.79 , pp. 1151-1156
    • Anwar, R.1    Miloszewski, K.J.2    Markham, A.F.3
  • 19
    • 0029815605 scopus 로고    scopus 로고
    • Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene
    • Suzuki K, Henke J, Iwata M, et al. Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene. Hum Genet 1996; 98: 393-395.
    • (1996) Hum Genet , vol.98 , pp. 393-395
    • Suzuki, K.1    Henke, J.2    Iwata, M.3
  • 20
    • 0030791209 scopus 로고    scopus 로고
    • Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families
    • Inbal A, Yee VC, Kornbrot N, et al. Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families. Thromb Haemost 1997; 77: 1062-1067.
    • (1997) Thromb Haemost , vol.77 , pp. 1062-1067
    • Inbal, A.1    Yee, V.C.2    Kornbrot, N.3
  • 22
    • 0025217734 scopus 로고    scopus 로고
    • Saito M, Asakura H, Yoshida T, et al. A familial factor XIII subunit B deficiency. Br J Haematol 1990; 74: 290-94. Comments in: Br J Haematol 1990; 76: 317, Br J Haematol 1991; 77: 565-566.
    • Saito M, Asakura H, Yoshida T, et al. A familial factor XIII subunit B deficiency. Br J Haematol 1990; 74: 290-94. Comments in: Br J Haematol 1990; 76: 317, Br J Haematol 1991; 77: 565-566.
  • 23
    • 0001040957 scopus 로고
    • Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor
    • Ichinose A, Davie EW. Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci USA 1988; 85: 5829-5833.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 5829-5833
    • Ichinose, A.1    Davie, E.W.2
  • 24
    • 0025613445 scopus 로고
    • Nucleotide sequence of the gene for the b subunit of human factor XIII
    • Bottenus RE, Ichinose A, Davie EW. Nucleotide sequence of the gene for the b subunit of human factor XIII. Biochemistry 1990; 29: 11195-11209.
    • (1990) Biochemistry , vol.29 , pp. 11195-11209
    • Bottenus, R.E.1    Ichinose, A.2    Davie, E.W.3
  • 25
    • 29144522948 scopus 로고    scopus 로고
    • Factor XIII deficiency: New nonsense and deletion mutations in the human factor XIIIA gene
    • Anwar R, Gallivan L, Richards M, Khair K, Wright M, Minford A. Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. Haematologica. 2005; 90: 1718-1720.
    • (2005) Haematologica , vol.90 , pp. 1718-1720
    • Anwar, R.1    Gallivan, L.2    Richards, M.3    Khair, K.4    Wright, M.5    Minford, A.6
  • 26
    • 13344261413 scopus 로고    scopus 로고
    • Four novel mutations in deficiency of coagulation factor XIII: Consequences to expression and structure of the A-subunit
    • Mikkola H, Yee VC, Syrjala M, et al. Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. Blood 1996; 87: 141-151.
    • (1996) Blood , vol.87 , pp. 141-151
    • Mikkola, H.1    Yee, V.C.2    Syrjala, M.3
  • 27
    • 0032523163 scopus 로고    scopus 로고
    • Molecular mechanisms of type II factor XIII deficiency: Novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system
    • Takahashi N, Tsukamoto H, Umeyama H, et al. Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system. Blood 1998; 91: 2830-2838.
    • (1998) Blood , vol.91 , pp. 2830-2838
    • Takahashi, N.1    Tsukamoto, H.2    Umeyama, H.3
  • 28
    • 0029947440 scopus 로고    scopus 로고
    • Izumi T, Hashiguchi T, Castaman G, et al. A. Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain. Blood 1996; 87: 2769-2774.
    • Izumi T, Hashiguchi T, Castaman G, et al. A. Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain. Blood 1996; 87: 2769-2774.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.