메뉴 건너뛰기




Volumn 124, Issue 4, 2010, Pages 229-234

Ox brain versus rabbit brain thromboplastin assays are the best tool for a preliminary diagnosis of the Arg304Gln factor VII defect (FVII Padua)

Author keywords

Arg304Gln mutation; Factor VII levels; Tissue thromboplastins

Indexed keywords

BLOOD CLOTTING FACTOR 7; RECOMBINANT THROMBOPLASTIN; THROMBIN;

EID: 78449254568     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000321534     Document Type: Article
Times cited : (9)

References (37)
  • 1
    • 0000824389 scopus 로고
    • Congenital SPCA deficiency: A hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions
    • Alexander B, Goldstein R, Landwehr G, Cook CD: Congenital SPCA deficiency: a hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions. J Clin Invest 1951; 30: 596-608.
    • (1951) J. Clin. Invest. , vol.30 , pp. 596-608
    • Alexander, B.1    Goldstein, R.2    Landwehr, G.3    Cook, C.D.4
  • 2
    • 0036040213 scopus 로고    scopus 로고
    • Factor VII deficiency
    • Perry DJ: Factor VII deficiency. Br J Haematol 2002; 118: 689-700.
    • (2002) Br. J. Haematol. , vol.118 , pp. 689-700
    • Perry, D.J.1
  • 4
    • 0022410305 scopus 로고
    • Hereditary factor VII eficiency: Heterogeneity defined by combined functional and immunochemical analysis
    • Triplett DA, Brandt JT, Batard MA, Dixon JL, Fair DS: Hereditary factor VII eficiency: heterogeneity defined by combined functional and immunochemical analysis. Blood 1985; 66: 1284-1287.
    • (1985) Blood , vol.66 , pp. 1284-1287
    • Triplett, D.A.1    Brandt, J.T.2    Batard, M.A.3    Dixon, J.L.4    Fair, D.S.5
  • 5
    • 0018192517 scopus 로고
    • Factor VII Padua: A ongenital coagulation disorder due to an abnormal factor VII with a peculiar activation pattern
    • Girolami A, Fabris F, Dal Bo Zanon R, Ghiotto G, Burul A: Factor VII Padua: a ongenital coagulation disorder due to an abnormal factor VII with a peculiar activation pattern. J Lab Clin Med 1978; 91: 387-395.
    • (1978) J. Lab. Clin Med. , vol.91 , pp. 387-395
    • Girolami, A.1    Fabris, F.2    Dal Bo Zanon, R.3    Ghiotto, G.4    Burul, A.5
  • 7
    • 0019995501 scopus 로고
    • Further studies on factor VII Padua defect: The report of the fourth homozygous patient from the same valley
    • Girolami A, Gaio A, Doglioni L, Procidano M, Saltarin P: Further studies on factor VII Padua defect: the report of the fourth homozygous patient from the same valley. Blut 1982; 44: 363-369.
    • (1982) Blut , vol.44 , pp. 363-369
    • Girolami, A.1    Gaio, A.2    Doglioni, L.3    Procidano, M.4    Saltarin, P.5
  • 9
    • 78650175151 scopus 로고
    • Variant coagulation Factor X and II with point mutations in a highly conserved motif in the substrate binding pocket abstract comparative molecular modeling
    • James HL, Kumar A, Girolami A, Hubbert J, Fair D: Variant coagulation Factor X and II with point mutations in a highly conserved motif in the substrate binding pocket (abstract). Comparative molecular modelling. Thromb Hemost 1991; 65: 937.
    • (1991) Thromb. Hemost. , vol.65 , pp. 937
    • James, H.L.1    Kumar, A.2    Girolami, A.3    Hubbert, J.4    Fair, D.5
  • 10
    • 0025871447 scopus 로고
    • Purification and characterization of factor VII 304-Gln: A variant molecule with reduced activity isolated from a clinically unaffected male
    • O'Brien DP, Gale KM, Anderson JS, McVey JH, Miller GJ, Meade TW, Tuddenham EG: Purification and characterization of factor VII 304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male. Blood 1991; 78: 132-140.
    • (1991) Blood , vol.78 , pp. 132-140
    • O'Brien, D.P.1    Gale, K.M.2    Anderson, J.S.3    McVey, J.H.4    Miller, G.J.5    Meade, T.W.6    Tuddenham, E.G.7
  • 11
    • 0020036783 scopus 로고
    • Factor VII Padua 1 another case
    • Croze M, Brizard CP: Factor VII Padua 1. Another case. Haemostasis 1982; 11: 185-188.
    • (1982) Haemostasis , vol.11 , pp. 185-188
    • Croze, M.1    Brizard, C.P.2
  • 12
    • 0027528846 scopus 로고
    • The dysfunction of coagulation factor VII Padua results from substitution of arginine-304 by glutamine
    • James HL, Girolami A, Hubbard JG, Kumar A, Fair DS: The dysfunction of coagulation factor VII Padua results from substitution of arginine-304 by glutamine. Biochim Biophys Acta 1993; 1172: 301-305.
    • (1993) Biochim. Biophys. Acta. , vol.1172 , pp. 301-305
    • James, H.L.1    Girolami, A.2    Hubbard, J.G.3    Kumar, A.4    Fair, D.S.5
  • 13
    • 0033867990 scopus 로고    scopus 로고
    • Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency
    • Peyvandi F, Jenkins PV, Mannucci PM, Billio A, Zeinali S, Perkins SJ, Perry DJ: Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency. Thromb Haemost 2000; 84: 250-257.
    • (2000) Thromb. Haemost. , vol.84 , pp. 250-257
    • Peyvandi, F.1    Jenkins, P.V.2    Mannucci, P.M.3    Billio, A.4    Zeinali, S.5    Perkins, S.J.6    Perry, D.J.7
  • 14
    • 0019944283 scopus 로고
    • Congenital factor VII deficiency clinical and laboratory characteristics of a newly discovered kindred
    • Kernoff LM, Hughes J, Denson KW: Congenital factor VII deficiency. Clinical and laboratory characteristics of a newly discovered kindred. Clin Lab Haematol 1982; 4: 109-115.
    • (1982) Clin. Lab. Haematol. , vol.4 , pp. 109-115
    • Kernoff, L.M.1    Hughes, J.2    Denson, K.W.3
  • 16
  • 17
    • 41049100334 scopus 로고    scopus 로고
    • Congenital bleeding disorders of the vitamin K-dependent clotting factors
    • Girolami A, Scandellari R, Scapin M, Vettore S: Congenital bleeding disorders of the vitamin K-dependent clotting factors. Vitam Horm 2008; 78: 281-374.
    • (2008) Vitam. Horm. , vol.78 , pp. 281-374
    • Girolami, A.1    Scandellari, R.2    Scapin, M.3    Vettore, S.4
  • 18
    • 0027309429 scopus 로고
    • Recombinant thromboplastin is slightly more sensitive to factor VII Padua than standard thromboplastins of human origin
    • Girolami A, Sartori MT, Steffan A, Fadin MA: Recombinant thromboplastin is slightly more sensitive to factor VII Padua than standard thromboplastins of human origin. Blood Coagul Fibrinolysis 1993; 4: 497-498.
    • (1993) Blood Coagul Fibrinolysis , vol.4 , pp. 497-498
    • Girolami, A.1    Sartori, M.T.2    Steffan, A.3    Fadin, M.A.4
  • 20
    • 22444446252 scopus 로고    scopus 로고
    • Of four mutations in the factor VII gene in tunisian patients one novel mutation Ser339Phe in three unrelated families abrogates factor X activation
    • Fromovich-Amit Y, Zivelin A, Rosenberg N, Landau M, Rosa JP, Seligsohn U: Of four mutations in the factor VII gene in Tunisian patients, one novel mutation (Ser339Phe) in three unrelated families abrogates factor X activation. Blood Coagul Fibrinolysis 2005; 16: 369-374.
    • (2005) Blood Coagul Fibrinolysis , vol.16 , pp. 369-374
    • Fromovich-Amit, Y.1    Zivelin, A.2    Rosenberg, N.3    Landau, M.4    Rosa, J.P.5    Seligsohn, U.6
  • 22
    • 0035131432 scopus 로고    scopus 로고
    • Study group of factor seven deficiency: Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency
    • Giansily-Blaizot M, Aguilar-Martinez P, Biron- Andreani C, Jeanjean P, Igual H, Schved JF, Study Group of Factor Seven Deficiency: Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency. Eur J Hum Genet 2001; 9: 105-112.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 105-112
    • Giansily-Blaizot, M.1    Aguilar-Martinez, P.2    Biron-Andreani, C.3    Jeanjean, P.4    Igual, H.5    Schved, J.F.6
  • 23
    • 77957754703 scopus 로고
    • Disfunctional human FVII variants and single-strand conformational polymorphism SSC5 abstract
    • suppl
    • Takamiya O, McVey I, Kemhell-Cook G, Tuddenham E: Disfunctional human FVII variants and single-strand conformational polymorphism (SSC5) (abstract). Thromb Hemost 1993; 69(suppl):1291.
    • (1993) Thromb. Hemost. , vol.69 , pp. 1291
    • Takamiya, O.1    McVey, I.2    Kemhell-Cook, G.3    Tuddenham, E.4
  • 24
    • 77957753648 scopus 로고    scopus 로고
    • Rastager-Iari: Factor VII genotype and clinical profile in 6 Iranian patients with congenital factor VII deficiency abstract
    • suppl
    • Tahatahary A, Ravanbod S, Baghaipour M, Enayar M, Ala F, Rastager-Iari: Factor VII genotype and clinical profile in 6 Iranian patients with congenital factor VII deficiency (abstract). J Thromb Hemost 2007; 5(suppl): 208.
    • (2007) J. Thromb. Hemost. , vol.5 , pp. 208
    • Tahatahary, A.1    Ravanbod, S.2    Baghaipour, M.3    Enayar, M.4    Ala, F.5
  • 26
    • 0028059812 scopus 로고
    • Molecular analysis of Polish patients with factor VII deficiency
    • Arbini AA, Bodkin D, Lopaciuk S, Bauer KA: Molecular analysis of Polish patients with factor VII deficiency. Blood 1994; 84: 2214-2220.
    • (1994) Blood , vol.84 , pp. 2214-2220
    • Arbini, A.A.1    Bodkin, D.2    Lopaciuk, S.3    Bauer, K.A.4
  • 27
    • 0034091518 scopus 로고    scopus 로고
    • Twenty two novel mutations of the factor VII gene in factor VII deficiency
    • Wulff K, Herrmann FH: Twenty two novel mutations of the factor VII gene in factor VII deficiency. Hum Mutat 2000; 15: 489-496.
    • (2000) Hum. Mutat. , vol.15 , pp. 489-496
    • Wulff, K.1    Herrmann, F.H.2
  • 28
    • 70349979511 scopus 로고    scopus 로고
    • Phenotypic and genotypic characterization of factor VII deficiency patients from Western India
    • 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: 106-111.
    • (2009) Clin. Chim. Acta. , vol.409 , pp. 106-111
    • Mota, L.1    Shetty, S.2    Idicula-Thomas, S.3    Ghosh, K.4
  • 30
    • 0012003407 scopus 로고
    • The interrelationship between normotest and thrombotest
    • Owren PA: The interrelationship between Normotest and Thrombotest. Farmakotherai 1969; 25: 1-13.
    • (1969) Farmakotherai , vol.25 , pp. 1-13
    • Owren, P.A.1
  • 31
    • 0017328988 scopus 로고
    • Normotest thrombotest discrepancy in congenital coagulation disorders of the prothrombin complex and in coumarin treated patients. A nonspecific phenomenon
    • Girolami A, Brunetti A, Patrassi GM: Normotest- thrombotest discrepancy in congenital coagulation disorders of the prothrombin complex and in coumarin-treated patients: a nonspecific phenomenon. Am J Clin Pathol 1977; 67: 57-60. (Pubitemid 8025623)
    • (1977) American Journal of Clinical Pathology , vol.67 , Issue.1 , pp. 57-60
    • Girolami, A.1    Brunetti, A.2    Patrassi, G.M.3
  • 34
    • 15344338660 scopus 로고    scopus 로고
    • Molecular mechanism of dysfunctional factor VII associated with the homozygous missense mutation 331Gly to Ser
    • Takamiya O, Kimura S: Molecular mechanism of dysfunctional factor VII associated with the homozygous missense mutation 331Gly to Ser. Thromb Haemost 2005; 93: 414-419.
    • (2005) Thromb. Haemost. , vol.93 , pp. 414-419
    • Takamiya, O.1    Kimura, S.2
  • 36
    • 33846907390 scopus 로고    scopus 로고
    • Influence of coagulation factors on extrinsic thrombin generation
    • DOI 10.1097/MBC.0b013e32801010ce, PII 0000172120070300000003
    • Stief TW, Wieczerzak A, Renz H: Influence of coagulation factors on extrinsic thrombin generation. Blood Coagul Fibrinolysis 2007; 18: 105-112. (Pubitemid 46232829)
    • (2007) Blood Coagulation and Fibrinolysis , vol.18 , Issue.2 , pp. 105-112
    • Stief, T.W.1    Wieczerzak, A.2    Renz, H.3
  • 37
    • 0028340150 scopus 로고
    • Impaired human tissue factor-mediated activity in blood clotting factor Viinagoya Arg304 Trp evidence that a region in the catalytic domain of factor VII is important for the association with tissue factor
    • Matsushita T, Kojima T, Emi N, Takahashi I, Saito H: Impaired human tissue factor-mediated activity in blood clotting factor VIINagoya (Arg304 ] Trp). Evidence that a region in the catalytic domain of factor VII is important for the association with tissue factor. J Biol Chem 1994; 269: 7355-7363.
    • (1994) J. Biol. Chem. , vol.269 , pp. 7355-7363
    • Matsushita, T.1    Kojima, T.2    Emi, N.3    Takahashi, I.4    Saito, H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.