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Volumn 55, Issue 1, 2002, Pages 1-18

Haemophilia A and haemophilia B: Molecular insights

Author keywords

[No Author keywords available]

Indexed keywords

ANTICOAGULANT AGENT; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; FIBRIN; MESSENGER RNA; MICROSATELLITE DNA; VON WILLEBRAND FACTOR;

EID: 0036164276     PISSN: 13668714     EISSN: None     Source Type: Journal    
DOI: 10.1136/mp.55.1.1     Document Type: Review
Times cited : (103)

References (162)
  • 15
    • 0022454539 scopus 로고
    • Proteolytic processing of human factor VIII. Correlation of specific cleavages by thrombin, factor Xa, and activated protein C with activation and inactivation of factor VIII coagulant activity
    • (1986) Biochemistry , vol.25 , pp. 505-512
    • Eaton, D.1    Rodriguez, H.2    Vehar, G.A.3
  • 16
    • 0017754787 scopus 로고
    • Stabilization of factor VIII in plasma by the von Willebrand factor. Studies on posttransfusion and dissociated factor VIII and in patients with von Willebrand's disease
    • (1977) J Clin Invest , vol.60 , pp. 390-404
    • Weiss, H.J.1    Sussman, I.I.2    Hoyer, L.W.3
  • 23
    • 0021052320 scopus 로고
    • The activation of factor IX by tissue factor-factor VII in a bovine plasma system lacking factor X
    • (1983) Thromb Res , vol.32 , pp. 171-181
    • Jesty, J.1    Morrison, S.A.2
  • 32
  • 52
    • 0021340565 scopus 로고
    • Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency)
    • (1984) Lancet , vol.1 , pp. 239-241
    • Giannelli, F.1    Anson, D.S.2    Choo, K.H.3
  • 62
    • 0034101481 scopus 로고    scopus 로고
    • An effective route for the isolation of human genetic loci exemplified using the BgII restriction fragment length polymorphism of the factor VIII gene
    • (2000) Thromb Haemost , vol.83 , pp. 512-513
    • Bowen, D.J.1
  • 64
    • 0031794398 scopus 로고    scopus 로고
    • Linkage analysis in haemophilia A: Simultaneous genotyping of two polymorphisms of the human factor VIII gene using induced heteroduplex formation
    • (1998) Haemophilia , vol.4 , pp. 812-819
    • Howarth, A.1    Bowen, D.J.2
  • 71
    • 0025205085 scopus 로고
    • Common intragenic and extragenic polymorphisms of blood coagulation factors VIII and IX are different in Chinese and Caucasian populations
    • (1990) Clin Genet , vol.38 , pp. 434-440
    • De la, S.C.1    Wu, Q.2    Baas, M.J.3
  • 74
    • 0024338991 scopus 로고
    • The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence -561. The BamHI/MSPI haplotypes in blacks and Caucasians
    • (1989) Hum Genet , vol.82 , pp. 283-284
    • Zhang, M.1    Chen, S.H.2    Scott, C.R.3
  • 78
    • 0033039498 scopus 로고    scopus 로고
    • Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays
    • (1999) Nat Genet , vol.22 , pp. 164-167
    • Hacia, J.G.1    Fan, J.B.2    Ryder, O.3
  • 80
    • 0033779661 scopus 로고    scopus 로고
    • Sequencing with microarray technology - A powerful new tool for molecular diagnostics
    • (2000) Clin Chem , vol.46 , pp. 1523-1525
    • Diamandis, E.P.1
  • 81
    • 0030903424 scopus 로고    scopus 로고
    • A molecular model for the triplicated A domains of human factor VIII based on the crystal structure of human ceruloplasmin
    • (1997) Blood , vol.89 , pp. 2413-2421
    • Pemberton, S.1    Lindley, P.2    Zaitsev, V.3
  • 84
    • 0032746250 scopus 로고    scopus 로고
    • Region of factor IXa protease domain that interacts with factor VIIIa: Analysis of select hemophilia B mutants
    • (1999) Thromb Haemost , vol.82 , pp. 218-225
    • Bajaj, S.P.1
  • 88
    • 0031719415 scopus 로고    scopus 로고
    • Molecular diagnostics of 15 hemophilia A patients: Characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping
    • (1998) Hum Mutat , vol.12 , pp. 301-303
    • Tavassoli, K.1    Eigel, A.2    Wilke, K.3
  • 97
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
    • (1998) Blood , vol.92 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 103
    • 0025202103 scopus 로고
    • The molecular genetic analysis of hemophilia A: A directed search strategy for the detection of point mutations in the human factor VIII gene
    • (1990) Blood , vol.76 , pp. 2242-2248
    • Pattinson, J.K.1    Millar, D.S.2    McVey, J.H.3
  • 115
    • 0027457180 scopus 로고
    • A factor VIII neutralizing monoclonal antibody and a human inhibitor alloantibody recognizing epitopes in the C2 domain inhibit factor VIII binding to von Willebrand factor and to phosphatidylserine
    • (1993) Thromb Haemost , vol.69 , pp. 240-246
    • Shima, M.1    Scandella, D.2    Yoshioka, A.3
  • 116
    • 0030800963 scopus 로고    scopus 로고
    • The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von willebrand factor
    • (1997) J Biol Chem , vol.272 , pp. 18007-18014
    • Saenko, E.L.1    Scandella, D.2
  • 117
    • 0034254727 scopus 로고    scopus 로고
    • A novel cause of mild/moderate hemophilia A: Mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor
    • (2000) Blood , vol.96 , pp. 958-965
    • Jacquemin, M.1    Lavend'homme, R.2    Benhida, A.3
  • 129
  • 131
    • 0023617281 scopus 로고
    • Effect of propeptide mutations on post-translational processing of factor IX. Evidence that beta-hydroxylation and gamma-carboxylation are independent events
    • (1987) J Biol Chem , vol.262 , pp. 14895-14898
    • Rabiet, M.J.1    Jorgensen, M.J.2    Furie, B.3
  • 138
    • 0025286228 scopus 로고
    • Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B
    • (1990) Nature , vol.345 , pp. 444-446
    • Crossley, M.1    Brownlee, G.G.2
  • 141
    • 0034124571 scopus 로고    scopus 로고
    • Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate)
    • Recombinate PUP study group
    • (2000) Thromb Haemost , vol.83 , pp. 844-848
    • Goodeve, A.C.1    Williams, I.2    Bray, G.L.3
  • 145
    • 0025733518 scopus 로고
    • Haemophilia B mutations in a complete Swedish population sample: A test of new strategy for the genetic counselling of diseases with high mutational heterogeneity
    • (1991) Br J Haematol , vol.78 , pp. 390-397
    • Green, P.M.1    Montandon, A.J.2    Ljung, R.3
  • 147
  • 153
    • 0032872459 scopus 로고    scopus 로고
    • Molecular biological aspects of inhibitor development
    • (1999) Vox Sang , vol.77 , Issue.SUPPL. 1 , pp. 13-16
    • Tuddenham, E.G.1
  • 155
    • 0031057651 scopus 로고    scopus 로고
    • HLA class II profile: A weak determinant of factor VIII inhibitor development in severe haemophilia A
    • UKHCDO inhibitor working party
    • (1997) Thromb Haemost , vol.77 , pp. 234-237
    • Hay, C.R.1    Ollier, W.2    Pepper, L.3
  • 161
    • 0034161385 scopus 로고    scopus 로고
    • Involvement of low-density lipoprotein receptor-related protein (LRP) in the clearance of factor VIII in von Willebrand factor-deficient mice
    • (2000) Blood , vol.95 , pp. 1703-1708
    • Schwarz, H.P.1    Lending, P.J.2    Binder, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.