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Volumn 105, Issue 4, 1999, Pages 1101-1108

Mechanism underlying factor VII deficiency in Jewish populations with the Ala244Val mutation

Author keywords

Bleeding disorder; Coagulation factor VII; Factor VII deficiency; Missense mutation; Molecular defect

Indexed keywords

ALANINE; VALINE;

EID: 0033022075     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1999.01436.x     Document Type: Article
Times cited : (11)

References (33)
  • 1
    • 0028059812 scopus 로고
    • Molecular analysis of Polish patients with factor VII deficiency
    • Arbini, A.A., Bodkin, D., Lopaciuk, S. & Bauer, K.A. (1994) Molecular analysis of Polish patients with factor VII deficiency. Blood, 84, 2214-2220.
    • (1994) Blood , vol.84 , pp. 2214-2220
    • Arbini, A.A.1    Bodkin, D.2    Lopaciuk, S.3    Bauer, K.A.4
  • 2
    • 0029665491 scopus 로고    scopus 로고
    • 359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule
    • 359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. Blood, 87, 5085-5094.
    • (1996) Blood , vol.87 , pp. 5085-5094
    • Arbini, A.A.1    Mannucci, P.M.2    Bauer, K.A.3
  • 3
    • 0031026003 scopus 로고    scopus 로고
    • Severe factor VII deficiency due to a mutation disrupting a hepetocyte nuclear factor 4 binding site in the factor VII promoter
    • Arbini, A.A., Pollak, E.S., Bayleram, J.K., High, K.A. & Bauer, K.A. (1996b) Severe factor VII deficiency due to a mutation disrupting a hepetocyte nuclear factor 4 binding site in the factor VII promoter. Blood, 89, 176-182.
    • (1996) Blood , vol.89 , pp. 176-182
    • Arbini, A.A.1    Pollak, E.S.2    Bayleram, J.K.3    High, K.A.4    Bauer, K.A.5
  • 4
    • 0024997547 scopus 로고
    • Factor IX is activated in vivo by the tissue factor mechanism
    • Bauer, K.A., Kass, B.L., ten Cate, H., Hawiger, J.J. & Rosenberg, R.D. (1990) Factor IX is activated in vivo by the tissue factor mechanism. Blood, 76, 731-736.
    • (1990) Blood , vol.76 , pp. 731-736
    • Bauer, K.A.1    Kass, B.L.2    Ten Cate, H.3    Hawiger, J.J.4    Rosenberg, R.D.5
  • 8
    • 0025948892 scopus 로고
    • Missense mutations and evolutionary conservation of amino acids: Evidence that many of the amino acids in factor IX function as 'spacer' elements
    • Bottema, C.D.K., Ketterling, R.P., Li, S., Yoon, H.S., Philips, J.A. & Sommer, S.S. (1991) Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as 'spacer' elements. American Journal of Human Genetics, 49, 820-838.
    • (1991) American Journal of Human Genetics , vol.49 , pp. 820-838
    • Bottema, C.D.K.1    Ketterling, R.P.2    Li, S.3    Yoon, H.S.4    Philips, J.A.5    Sommer, S.S.6
  • 9
    • 0022368335 scopus 로고
    • Monoclonal anti-human factor VII antibodies: Detection in plasma of a second protein antigenically and genetically related to factor VII
    • Broze, G.J., Jr (1985) Monoclonal anti-human factor VII antibodies: detection in plasma of a second protein antigenically and genetically related to factor VII. Journal of Clinical Investigation, 76, 937-946.
    • (1985) Journal of Clinical Investigation , vol.76 , pp. 937-946
    • Broze G.J., Jr.1
  • 11
    • 0020556855 scopus 로고
    • Quntitation of factor VII in the plasma of normal and warfarin-treated individuals by radioimmunoassay
    • Fair, D.S. (1983) Quntitation of factor VII in the plasma of normal and warfarin-treated individuals by radioimmunoassay. Blood, 62, 784-791.
    • (1983) Blood , vol.62 , pp. 784-791
    • Fair, D.S.1
  • 12
    • 0025860324 scopus 로고
    • A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals
    • Green, F., Kelleher, C., Wilkes, H., Temple, A., Meade, T. & Humphries, S. (1991) A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arteriosclerosis and Thrombosis, 11, 540-546.
    • (1991) Arteriosclerosis and Thrombosis , vol.11 , pp. 540-546
    • Green, F.1    Kelleher, C.2    Wilkes, H.3    Temple, A.4    Meade, T.5    Humphries, S.6
  • 14
    • 0029919365 scopus 로고    scopus 로고
    • Low plasma levels of factor VIIc and antigen are more strongly associated with the 10 base promoter (-323) insertion than the glutamine 353 variant
    • Humphries, S., Temple, A., Lane, A., Green, F., Cooper, J. & Miller, G. (1996) Low plasma levels of factor VIIc and antigen are more strongly associated with the 10 base promoter (-323) insertion than the glutamine 353 variant. Thrombosis and Haemostasis, 75, 567-572.
    • (1996) Thrombosis and Haemostasis , vol.75 , pp. 567-572
    • Humphries, S.1    Temple, A.2    Lane, A.3    Green, F.4    Cooper, J.5    Miller, G.6
  • 15
    • 0026498483 scopus 로고
    • The study of gene-environmental interactions that influence thrombosis and fibrinolysis: Genetic variation at the loci for factor VII and plasminogen activator inhibitor-1
    • Humphries, S.E., Lane, A., Dawson, S. & Green, F.R. (1992) The study of gene-environmental interactions that influence thrombosis and fibrinolysis: genetic variation at the loci for factor VII and plasminogen activator inhibitor-1. Archives of Pathology Laboratory Medicine, 116, 1322-1329.
    • (1992) Archives of Pathology Laboratory Medicine , vol.116 , pp. 1322-1329
    • Humphries, S.E.1    Lane, A.2    Dawson, S.3    Green, F.R.4
  • 18
    • 0029947353 scopus 로고    scopus 로고
    • Protein C Nagoya, an elongated mutant of protein C, is retained within the endoplasmic reticulum and is associated with GRP78 and GRP94
    • Katsumi, A., Senda, T., Yamashita, Y., Yamazaki, T., Hamaguchi, M., Kojima, T., Kobayashi, S. & Saito, II. (1996) Protein C Nagoya, an elongated mutant of protein C, is retained within the endoplasmic reticulum and is associated with GRP78 and GRP94. Blood, 87, 4164-4175.
    • (1996) Blood , vol.87 , pp. 4164-4175
    • Katsumi, A.1    Senda, T.2    Yamashita, Y.3    Yamazaki, T.4    Hamaguchi, M.5    Kojima, T.6    Kobayashi, S.7    Saito, I.I.8
  • 19
    • 0026431613 scopus 로고
    • Improved vectors for stable expression of foreign genes in mammalian cells by use of the untranslated leader sequence from EMC virus
    • Kaufman, R.J., Davies, M.V., Wasley, L.C. & Michnick, D. (1991) Improved vectors for stable expression of foreign genes in mammalian cells by use of the untranslated leader sequence from EMC virus. Nucleic Acids Research, 19, 4485-4490.
    • (1991) Nucleic Acids Research , vol.19 , pp. 4485-4490
    • Kaufman, R.J.1    Davies, M.V.2    Wasley, L.C.3    Michnick, D.4
  • 21
    • 0027537854 scopus 로고
    • A polymorphism in the 5′ region of coagulation factor VII (F7) caused by an inserted decanucleotide
    • Marchetti, G., Patracchini, P., Papacchini, M., Ferrati, M. & Bernardi, F. (1993b) A polymorphism in the 5′ region of coagulation factor VII (F7) caused by an inserted decanucleotide. Human Genetics, 90, 575-576.
    • (1993) Human Genetics , vol.90 , pp. 575-576
    • Marchetti, G.1    Patracchini, P.2    Papacchini, M.3    Ferrati, M.4    Bernardi, F.5
  • 22
    • 0032147133 scopus 로고    scopus 로고
    • Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency
    • McVey, J.H., Boswell, E.J., Takamiya, O., Tamagnini, G., Valente, V., Fidalgo, T., Layton, M. & Tuddenham, E.G.D. (1998) Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. Blood, 92, 920 926.
    • (1998) Blood , vol.92 , pp. 920-926
    • McVey, J.H.1    Boswell, E.J.2    Takamiya, O.3    Tamagnini, G.4    Valente, V.5    Fidalgo, T.6    Layton, M.7    Tuddenham, E.G.D.8
  • 23
    • 0026579362 scopus 로고
    • Prenatal exclusion of severe factor VII deficiency by DNA sequencing
    • Millar, D.S., Cooper, D.N., Kakkar, V.V., Schwartz, M. & Scheibel, E. (1992) Prenatal exclusion of severe factor VII deficiency by DNA sequencing. Lancet, 39, 1359.
    • (1992) Lancet , vol.39 , pp. 1359
    • Millar, D.S.1    Cooper, D.N.2    Kakkar, V.V.3    Schwartz, M.4    Scheibel, E.5
  • 25
    • 0028175691 scopus 로고
    • Factor VII Mie: Homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg (CGC) (247) in the catalytic domain
    • Ohiwa, M., Hayashi, T., Wada, H., Minamikawa, K., Shirakawa, S. & Suzuki, K. (1994) Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg (CGC) (247) in the catalytic domain. Thrombosis and Haemostasis, 71, 773-777.
    • (1994) Thrombosis and Haemostasis , vol.71 , pp. 773-777
    • Ohiwa, M.1    Hayashi, T.2    Wada, H.3    Minamikawa, K.4    Shirakawa, S.5    Suzuki, K.6
  • 26
    • 0017639138 scopus 로고
    • Activation of factor IX by the reaction product of tissue factor and factor VII: Additional pathway for initiating blood coagulation
    • Osterud, B. & Rapaport, S.I. (1977) Activation of factor IX by the reaction product of tissue factor and factor VII: additional pathway for initiating blood coagulation. Proceedings of the National Academy Sciences of the United States of America, 74, 5260-5264.
    • (1977) Proceedings of the National Academy Sciences of the United States of America , vol.74 , pp. 5260-5264
    • Osterud, B.1    Rapaport, S.I.2
  • 28
    • 0029842904 scopus 로고    scopus 로고
    • The effect of molecular chaperones on in vivo and in vitro folding processes
    • Schwarz, E., Lilie, H. & Rudolph, R. (1996) The effect of molecular chaperones on in vivo and in vitro folding processes. Journal of Biological Chemistry 377, 411-416.
    • (1996) Journal of Biological Chemistry , vol.377 , pp. 411-416
    • Schwarz, E.1    Lilie, H.2    Rudolph, R.3
  • 31
    • 0022410305 scopus 로고
    • Hereditary factor VII deficiency: Heterogeneity defined by combined functional and immunochemical analysis
    • Triplett, D.A., Brandt, J.T., McGann Batard, M.A, Schaeffer Dixon, J.L. & Fair, D.S. (1985) Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis. Blood, 66, 1284-1287.
    • (1985) Blood , vol.66 , pp. 1284-1287
    • Triplett, D.A.1    Brandt, J.T.2    McGann Batard, M.A.3    Schaeffer Dixon, J.L.4    Fair, D.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.