Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00035024.xml
Download PDF
Thromb Haemost 1995; 74(01): 313-321
DOI: 10.1055/s-0038-1642696
DOI: 10.1055/s-0038-1642696
Symposium
Molecular Basis of Haemophilias
Inherited Factor VII Deficiency: Genetics and Molecular Pathology
Authors
Further Information
Publication History
Publication Date:
09 July 2018 (online)
-
References
- 1 Meade TW. Factor VII and ischaemic heart disease: epidemiologic evidence. Haemostasis 1983; 13: 178-185
- 2 Meade TW, Mellows S, Brozovic M, Miller G J, Chakrabarti RR, North WR S, Haines AP, Stirling Y, Imeson JD, Thompson SG. Haemostatic function and ischaemic heart disease: principal results of the North wick Park Heart Study. Lancet 1986; ii: 533-537
- 3 Wion KL, Kelly D, Summerfield JA, Tuddenham EG D, Lawn RM. Distribution of factor VIII mRNA and antigen in human liver and other tissues. Nature 1985; 317: 726-729
- 4 Fair DS. Quantitation of factor VII in the plasma of normal and warfarin-treated individuals by radioimmunoassay. Blood 1983; 62: 784-791
- 5 Iwanaga S, Nishimura H, Kawabata S, Kisiel W, Hase S, Ikenaka T. A new trisaccharide sugar chain linked to a serine residue in the first EGF-like domain of clotting factors VII and IX and protein Z. Adv. Exp. Med. Biol 1990; 281: 121-131
- 6 Bjoem S, Foster DC, Thim L, Wiberg FC, Christensen M, Komiyama Y, Pedersen AH, Kisiel W. Human plasma and recombinant factor VII. Characterization of O-glycosylations at serine residues 52 and 60 and effects of site-directed mutagenesis of serine 52 to alanine J. Biol. Chem 1991; 266: 11051-11057
- 7 Thim L, Bjoem S, Christensen M, Nicolai sen EM, Lund-Hansen T, Pedersen AH, Hedner U. Amino acid sequence and posttranslational modifications of human factor Vila from plasma and transfected baby hamster kidney cells. Biochemistry 1988; 27: 7785-7793
- 8 Nemerson Y. Tissue factor and hemostasis. Blood 1988; 71: 1-8
- 9 Wildgoose P, Berkner KL, Kisiel W. Synthesis, purification and characterization of an Argl52-→Gln site directed mutant of recombinant human blood clotting factor VII. Biochemistry 1990; 29: 3413-3420
- 10 Komiyama Y, Pedersen AH, Kisiel W. Proteolytic activation of human factors IX and X by recombinant human factor Vila: effects of calcium, phospholipids and tissue factor. Biochemistry 1990; 29: 9418-9425
- 11 Repke K, Gemmell CH, Guha A, Turitto VT, Broze GJ, Nemerson Y. Hemophilia as a defect of the tissue factor pathway of blood coagulation. Effect of factors VIII and IX on factor X activation in a continuous flow reactor Proc. Natl. Acad. Sci. USA 1990; 87: 7623-7627
- 12 Harlos K, Martin DM A, O’Brien DP, Jones EY, Stuart DI, Polikarpov I, Miller A, Tuddenham EG D, Boys C WG. Crystal structure of the extracellular region of human tissue factor. Nature 1994; 370: 662-666
- 13 Muller YA, Ultsch MH, Kelley RF, de Vos AM. Structure of the extracellular domain of human tisue factor: location of the factor Vila binding site. Biochemistry 1994; 33: 10864-10870
- 14 Ruf W, Schullek JR, Stone MJ, Edgington TS. Mutational mapping of functional residues in tissue factor: identification of factor VII recognition determinants in both structural modules of the predicted cytokine receptor homology domain. Biochemistry 1994; 33: 1565-1572
- 15 Gibbs CS, McCurdy SN, Leung LL K, Paborsky LR. Identification of the factor Vila binding site on tissue factor by homologous loop swap and alanine scanning mutagenesis. Biochemistry 1994; 33: 14003-14010
- 16 Hagen FS, Gray CL, O’Hara P, Grant FJ, Saari GC, Woodbury RG, Hart CE, Insley M, Kisiel W, Kurachi K, Davie EW. Characterization of a cDNA coding for human factor VII. Proc. Natl. Acad. Sci. USA 1986; 83: 2412-2416
- 17 O’Hara PJ, Grant FJ, Haldeman BA, Gray CL, Insley MY, Hagen FS, Murray MJ. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc. Natl. Acad. Sci. USA 1987; 84: 5158-5162
- 18 Miao CH, Leytus SP, Chung DW, Davie EW. Liver-specific expression of the gene coding for human factor X, a blood coagulation factor. J. Biol. Chem 1992; 267: 7395-7401
- 19 Berkner K, Busby S, Davie E, Hart C, Insley M, Kisiel W, Kumar A, Murray M, O’Hara P, Woodbury R, Hagen F. Isolation and expression of cDNAs encoding human factor VII. Cold Spring Harb. Symp. Quant. Biol 1986; 51: 531-541
- 20 Brothers AB, Clarke BJ, Sheffield WP, Blajchman MA. Complete nucleotide sequence of the cDNA encoding rabbit coagulation factor VII. Thromb. Res 1993; 69: 231-238
- 21 Murakawa M, Okamura T, Kamura T, Kuroiwa M, Harada M, Niho Y. Analysis of the partial nucleotide sequences and deuced primary structures of the protease domains of mammalian blood coagulation factors VII and X. Eur. J. Haematol 1994; 52: 162-168
- 22 Hassan HJ, Leonardi A, Chelucci C, Mattia G, Macioce G, Guerriero R, Russo G, Mannucci PM, Peschle C. Blood coagulation factors in human embryonic fetal development: preferential expression of the FVII/tissue factor pathway. Blood 1990; 76: 1158-1164
- 23 Hassan HJ, Chelucci C, Peschle C, Sorrentino V. Transforming growth factor Binhibits expression of fibrinogen and factor VII in a hepatoma cell line. Thromb. Haemost 1992; 67: 478-483
- 24 Ragni MV, Lewis JH, Spero JA, Hasiba U. Factor VII deficiency. Am. J. Hematol 1981; 10: 79-88
- 25 Mariani G, Mazzucconi MG, Hermans J, Ciavarella N, Faiella A, Hassan HJ, Mannucci PM, Nenci GG, Orlando M, Romoli D, Mandelli F. Factor VII deficiency: immunological characterization of genetic variants and detection of carriers. Br. J. Haematol 1981; 48: 7-14
- 26 Triplett DA, Brandt JT, Batard MA, Dixon JS, Fair DS. Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis. Blood 1985; 66: 1284-1287
- 27 Tuddenham EG D, Cooper DN. The Molecular Genetics of Haemostasis and its Inherited Disorders. Oxford University Press, Oxford; 1994
- 28 Goodnough LT, Saito H, Ratnoff OD. Thrombosis or myocardial infarction in congenital clotting factor abnormalities. Medicine 1983; 62: 248-255
- 29 Takamiya O, Kemball-Cook G, Martin DM A, Cooper DN, von Felten A, Meili E, Hann I, Prangnell DR, Lumley H, Tuddenham EG D, McVey JH. Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII. Hum. Molec. Genet 1993; 2: 1355-1359
- 30 Cooper DN, Krawczak M. Human Gene Mutation. Bios Scientific, Oxford; 1993
- 31 Bemardi F, Patracchini P, Gemmati D, Ferrati M, Arcieri P, Papacchini M, Redaelli R, Baudo F, Mariani G, Marchetti G. Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region. Hum. Genet 1993; 92: 446-450
- 32 Bemardi F, Liney DL, Patracchini P, Gemmati D, Legnani C, Arcieri P, Pinotti M, Redaelli R, Ballerini G, Pemberton S, Wacey AI, Mariani G, Tuddenham EG D, Marchetti G. Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII. Br. J. Haematol 1994; 86: 610-618
- 33 Marchetti G, Patracchini P, Gemmati D, DeRosa V, Pinotti M, Rodorigo G, Casonato A, Girolami A, Bemardi F. Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). Hum. Genet 1992; 89: 497-502
- 34 O’Brien DP, Gale KM, Anderson JS, McVey JH, Miller GJ, Meade TW, Tuddenham EG D. 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
- 35 Bottema CD K, Ketterling RP, Li S, Yoon H-S, Phillips JA, Sommer SS. Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as “spacer” elements. Am. J. Hum. Genet 1991; 49: 820-838
- 36 Wacey AI, Krawczak M, Kakkar VV, Cooper DN. Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein. Hum. Genet 1994; 94: 594-608
- 37 Green F, Kelleher C, Wilkes H, Temple A, Meade T, Humphries SA. common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterioscl. Thromb 1991; 11: 540-546
- 38 Mariani G, Marchetti G, Arcieri P, Bemardi F. The role of factor VII gene polymorphism in determining FVII activity and antigen plasma level. Blood 1994; 84 (01) 86-86 a
- 39 Peake I, Thomson J, Poller L, Crowe W, Goodeve A. The factor VII Arg 353 Gin polymorphism as a predictor of high plasma factor VII levels in a normal population. Thromb. Haemost 1993; 69: 624-624
- 40 Arbini AA, Bauer KA. Reduced plasma factor VII coagulant activity due to the Arg353Gln polymorphism in the factor VII gene results from defective secretion. Blood 1994; 84 (01) 86-86 a
- 41 Arbini AA, Bodkin D, Lopaciuk S, Bauer KA. Molecular analysis of Polish patients with factor VII deficiency. Blood 1994; 84: 2214-2220
- 42 Lane A, Cruickshank JK, Mitchell J, Henderson A, Humphries S, Green F. Genetic and environmental determinants of factor VII coagulant activity in different ethnic groups at differing risk of coronary heart disease. Atherosclerosis 1992; 94: 43-50
- 43 Humphries SE, Lane A, Green F, Cooper J, Miller G. Factor VII coagulant activity and antigen levels in men are determined by interaction between factor VII genotype and plasma triglyceride concentration. Arterioscl. Thromb 1994; 14: 193-198
- 44 Silveira A, Green F, Karpe F, Blomback M, Humphries S, Hamsten A. Elevated levels of factor VII activity in the postprandial state: effect of the factor VII Arg-Gin polymorphism. Thromb. Haemost 1994; 72: 734-739
- 45 Koster T, Rosendaal FR, Reitsma PH, van der Velden PA, Briet E, Vandenbroucke JP. Factor VII and fibrinogen levels as risk factors for venous thrombosis. Thromb. Haemost 1994; 71: 719-722
- 46 Giannelli F, Green PM, Sommer SS, Lillicrap DP, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Brownlee GG, Haemophilia B. database of point mutations and short additions and deletions, fifth edition. 1993; Nucleic Acids Res 1994; 22: 3534-3546
- 47 Kazama Y, Foster DC, Kisiel W. Evidence that an Arg79→Gln substitution in human factor VII is not associated with a reduction in coagulant activity. Blood Coag. Fibrinol 1992; 3: 697-702
- 48 Chaing S, Clarke B, Sridhara S, Chu K, Friedman P, VanDusen W, Roberts HR, Blajchman M, Monroe DM, High KA. Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor. Blood 1994; 83: 3524-3535
- 49 O’Brien DP, Kemball-Cook G, Hutchinson AM, Martin DM A, Johnson DJ D, Byfield PG H, Takamiya O, Tuddenham EG D, McVey JH. Surface plasmon resonance studies of the interaction factor VII and tissue factor. Demonstration of defective tissue factor binding in a variant FVI molecule (FVII-R79Q) Biochemistry 1994; 33: 14162-14169
- 50 Reitsma PH, Bemardi F, Doig RG, Gandrille S, Greengard JS, Ireland H, Krawczak M, Lind B, Long GL, Poort SR, Saito H, Sala N, Witt I, Cooper DN. Protein C deficiency: a database of mutations, 1995 update. Thromb. Haemost. 1995 In press
- 51 Marchetti G, Ferrati M, Patracchini P, Redaelli R, Bemardi F. A missense mutation (178Cys→Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene. Hum. Molec. Genet 1993; 2: 1055-1056
- 52 Ohiwa M, Hayashi T, Wada H, Minamikawa K, Shirakawa S, Suzuki K. Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg (247) (CGC) in the catalytic domain. Thromb. Haemost 1994; 71: 773-777
- 53 Bemardi F, Castaman G, Redaelli R, Pinotti M, Lunghi B, Rodeghiero F, Marchetti G. Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala→Val) and X (334Ser→Pro). Hum. Molec. Genet 1994; 3: 1175-1177
- 54 Ruf W. Factor Vila residue Arg290 is required for efficient activation of the macromolecular substrate factor X. Biochemistry 1994; 33: 11631-11636
- 55 Wildgoose P, Foster D, Schiodt J, Wiberg FC, Biiktoft JJ, Petersen LC. Identification of a calcium binding site in the protease domain of human blood coagulation factor VII: evidence for its role in factor VII - tissue factor interaction. Biochemistry 1993; 32: 114-119
- 56 Cunningham BC, Wells JA. Comparison of a structural and functional binding domain in human growth hormone. J Mol Biol 1993; 234: 554-563
- 57 Kavlie A, Wright MS, Stormorken H, Prydz H. Mutations in the factor VII gene of Norwegian FVII deficient patients. Thromb. Haemost 1993; 69: 612-612
- 58 Chen Q, Clarke BJ, Blajchman MA, Ofusu FA. Factor VII Hamilton: a novel type 2 mutation located at residue 57 in the first EGF domain ofhuman factor VII. Thromb. Haemost 1993; 69: 1291-1291
- 59 Kuppuswamy MN, Sabharwal AK, Birktoft JJ, Bajaj SP. Molecular characterization of human factor VII Kansas (GK704): substitution of GlnlOO by Arg in one allele and of Arg304 by Gin possibly in the other allele. Thromb. Haemost 1993; 69: 1292-1292
- 60 Millar DS, Cooper DN, Kakkar VV, Schwartz M, Scheibel E. Prenatal exclusion of severe factor VII deficiency by DNA sequencing. Lancet 1992; 339: 1359-1359
- 61 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
- 62 Matsushita T, Kojima T, Emi N, Takahashi I, Saito H. Impaired human tissue factor-mediated activity in blood clotting factor VII Nagoya (Arg304→Trp). J. Biol. Chem 1994; 269: 7355-7363
- 63 James HL, Zheng D-O, Shurafa M. Factor VII Asp331: a dysfunctional molecule with an amino acid substitution which may interfere with substrate binding. Blood 1994; 84 (01) 61 a