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Volumn 96, Issue 2, 2006, Pages 228-230

R924Q substitution encoded within exon 21 of the von Willebrand factor gene related to mild bleeding phenotype

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; DESMOPRESSIN; VON WILLEBRAND FACTOR;

EID: 33747103062     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH06-03-0144     Document Type: Article
Times cited : (10)

References (23)
  • 1
    • 0027458101 scopus 로고
    • Prevalence of von Willebrand disease in children: A multiethnic study
    • Werner EJ, Broxson EH, Tucker EL, et al. Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr 1993; 123: 893-8.
    • (1993) J Pediatr , vol.123 , pp. 893-898
    • Werner, E.J.1    Broxson, E.H.2    Tucker, E.L.3
  • 2
    • 0031029879 scopus 로고    scopus 로고
    • Reviews in molecular Medicine. Von Willebrand disease
    • Nichols WC, Ginsburg D. Reviews in molecular Medicine. Von Willebrand disease. Medicine 1997; 76: 1-19.
    • (1997) Medicine , vol.76 , pp. 1-19
    • Nichols, W.C.1    Ginsburg, D.2
  • 3
    • 0032824575 scopus 로고    scopus 로고
    • A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations
    • Nesbitt IM, Hampton KK, Preston FE, et al. A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations. Thromb Haemost 1999; 82: 1061-4.
    • (1999) Thromb Haemost , vol.82 , pp. 1061-1064
    • Nesbitt, I.M.1    Hampton, K.K.2    Preston, F.E.3
  • 4
    • 84887773412 scopus 로고    scopus 로고
    • International Society on Thrombosis and Haemostasis
    • von Willebrand disease mutation database, International Society on Thrombosis and Haemostasis http://www.sheffield.ac.uk/vwf/.
    • Von Willebrand Disease Mutation Database
  • 5
    • 13244291501 scopus 로고    scopus 로고
    • INSERM Network on Molecular Abnormalities in von Willebrand Disease. First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene
    • Hilbert L, D'Oiron R, Fressinaud E, et al.; INSERM Network on Molecular Abnormalities in von Willebrand Disease. First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene. J Thromb Haemost 2004; 2: 2271-3.
    • (2004) J Thromb Haemost , vol.2 , pp. 2271-2273
    • Hilbert, L.1    D'Oiron, R.2    Fressinaud, E.3
  • 6
    • 3543041260 scopus 로고    scopus 로고
    • Recombinant expression of mutations causing von Willebrand disease type Normandy: Characterization of a combined defect of factor VIII binding and multimerization
    • Schneppenheim R, Lenk H, Obser T, et al. Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization. Thromb Haemost 2004; 92: 36-41.
    • (2004) Thromb Haemost , vol.92 , pp. 36-41
    • Schneppenheim, R.1    Lenk, H.2    Obser, T.3
  • 7
    • 0034658433 scopus 로고    scopus 로고
    • Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment
    • Jorieux S, Fressinaud E, Goudemand J, et al. Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment. Blood 2000; 95: 3139-45.
    • (2000) Blood , vol.95 , pp. 3139-3145
    • Jorieux, S.1    Fressinaud, E.2    Goudemand, J.3
  • 8
    • 0034653497 scopus 로고    scopus 로고
    • Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
    • Allen S, Abuzenadah AM, Blagg JL, et al. Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. Blood 2000; 95: 2000-7.
    • (2000) Blood , vol.95 , pp. 2000-2007
    • Allen, S.1    Abuzenadah, A.M.2    Blagg, J.L.3
  • 9
    • 0037328171 scopus 로고    scopus 로고
    • INSERM Network on Molecular Abnormalities in von Willebrand Disease. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity
    • Hilbert L, Jorieux S, Proulle V, et al.; INSERM Network on Molecular Abnormalities in von Willebrand Disease. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity. Br J Haematol 2003; 120: 627-32.
    • (2003) Br J Haematol , vol.120 , pp. 627-632
    • Hilbert, L.1    Jorieux, S.2    Proulle, V.3
  • 10
    • 0023881694 scopus 로고
    • The application of the biotin/avidin system to the von Willebrand factor antigen immunoassay
    • Taylor LD. The application of the biotin/avidin system to the von Willebrand factor antigen immunoassay. Thromb Haemost 1988; 59: 251-4.
    • (1988) Thromb Haemost , vol.59 , pp. 251-254
    • Taylor, L.D.1
  • 11
    • 0018081398 scopus 로고
    • Standarization of the one stage assay for FVIII (antihemophilic factor)
    • Zacharsky LR, Rosenstein R. Standarization of the one stage assay for FVIII (antihemophilic factor). Am J Clin Pathol 1978; 70: 280-6.
    • (1978) Am J Clin Pathol , vol.70 , pp. 280-286
    • Zacharsky, L.R.1    Rosenstein, R.2
  • 12
    • 0016865340 scopus 로고
    • A method for assaying von Willebrand factor (ristocetin cofactor)
    • Macfarlane DE, Stibbe J, Kirby EP, et al. A method for assaying von Willebrand factor (ristocetin cofactor). Thromb Diath Haemorrh 1975; 34: 306-8.
    • (1975) Thromb Diath Haemorrh , vol.34 , pp. 306-308
    • Macfarlane, D.E.1    Stibbe, J.2    Kirby, E.P.3
  • 13
    • 0031887381 scopus 로고    scopus 로고
    • The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: Significance and practical implications
    • Casonato A, Pontara E, Zerbinati P, et al. The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: significance and practical implications. Am J Clin Pathol 1998; 109: 347-52.
    • (1998) Am J Clin Pathol , vol.109 , pp. 347-352
    • Casonato, A.1    Pontara, E.2    Zerbinati, P.3
  • 14
    • 0024537312 scopus 로고
    • Visualization of the multimeric structure of von Willebrand factor by immunoenzymatic stain using avidin-peroxidase complex instead of avidin-biotin peroxidase complex
    • Farías C, Kempfer AC, Blanco A, et al. Visualization of the multimeric structure of von Willebrand factor by immunoenzymatic stain using avidin-peroxidase complex instead of avidin-biotin peroxidase complex. Thromb Res 1989; 53: 513-8.
    • (1989) Thromb Res , vol.53 , pp. 513-518
    • Farías, C.1    Kempfer, A.C.2    Blanco, A.3
  • 15
    • 0031949845 scopus 로고    scopus 로고
    • Type 2N von Willebrand disease: Rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F) - Detection of a novel candidate type 2N mutation: C2810T (R854W)
    • Bowen DJ, Standen GR, Mazurier C, et al. Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F) - detection of a novel candidate type 2N mutation: C2810T (R854W). Thromb Haemost 1998; 80: 32-6
    • (1998) Thromb Haemost , vol.80 , pp. 32-36
    • Bowen, D.J.1    Standen, G.R.2    Mazurier, C.3
  • 16
    • 0027433113 scopus 로고
    • Conformation-Sensitive Gel Electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: Evidences for solvent-induced bends in DNA heteroduplexes
    • Ganguly A, Rock MJ, Prockop DJ. Conformation-Sensitive Gel Electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: evidences for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90: 10325-9
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 17
    • 33746604693 scopus 로고    scopus 로고
    • Mutation Profile in Patients Diagnosed with Type 1 von Willebrand Disease in the European Study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD)
    • Goodeve A, Hashemi M, Castaman G, et al. Mutation Profile in Patients Diagnosed with Type 1 von Willebrand Disease in the European Study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD), J Thromb Haemost 2005; 3: S 1: OR281.
    • (2005) J Thromb Haemost , vol.3 , Issue.S1
    • Goodeve, A.1    Hashemi, M.2    Castaman, G.3
  • 18
    • 33747090531 scopus 로고    scopus 로고
    • The Incidence and Penetrance of Common VWF Gene Mutations in a Cohort of Type 1 VWD Patients: Results from the EU Funded MCMDM-1VWD Project
    • Hashemi M, Peake I, Goodeve A, et al. The Incidence and Penetrance of Common VWF Gene Mutations in a Cohort of Type 1 VWD Patients: Results from the EU Funded MCMDM-1VWD Project. J Thromb Haemost 2005; 3: S 1: P1469.
    • (2005) J Thromb Haemost , vol.3 , Issue.S1
    • Hashemi, M.1    Peake, I.2    Goodeve, A.3
  • 19
    • 0037222943 scopus 로고    scopus 로고
    • An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant
    • Casonato A, Sartorello F, Cattini MG, et al. An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant. Blood 2003; 101: 151-6.
    • (2003) Blood , vol.101 , pp. 151-156
    • Casonato, A.1    Sartorello, F.2    Cattini, M.G.3
  • 20
    • 0028097422 scopus 로고
    • Biological effect of desmopressin in eight patients with type 2N ('Normandy') von Willebrand disease
    • Collaborative Group
    • Mazurier C, Gaucher C, Jorieux S, et al. Biological effect of desmopressin in eight patients with type 2N ('Normandy') von Willebrand disease. Collaborative Group. Br J Haematol 1994; 88: 849-54.
    • (1994) Br J Haematol , vol.88 , pp. 849-854
    • Mazurier, C.1    Gaucher, C.2    Jorieux, S.3
  • 21
    • 12144289138 scopus 로고    scopus 로고
    • Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: Results of a multicenter European study
    • Federici AB, Mazurier C, Berntorp E, et al. Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study. Blood 2004; 103: 2032-8.
    • (2004) Blood , vol.103 , pp. 2032-2038
    • Federici, A.B.1    Mazurier, C.2    Berntorp, E.3
  • 22
    • 0026562062 scopus 로고
    • Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII
    • Lopez-Fernandez MF, Blanco-Lopez MJ, Castineira MP, et al. Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII. Am J Hematol 1992; 40: 20-7.
    • (1992) Am J Hematol , vol.40 , pp. 20-27
    • Lopez-Fernandez, M.F.1    Blanco-Lopez, M.J.2    Castineira, M.P.3
  • 23
    • 33747103757 scopus 로고    scopus 로고
    • Responsiveness to Desmopressin: Influence of Genotype in Patients Diagnosed with Type 1 von Willebrand Disease in the European Study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD
    • Lethagen S, Castaman G, Federici A, et al. Responsiveness to Desmopressin: Influence of Genotype in Patients Diagnosed with Type 1 von Willebrand Disease in the European Study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD. J Thromb Haemost 2005; 3: S 1: H08.
    • (2005) J Thromb Haemost , vol.3 , Issue.S1
    • Lethagen, S.1    Castaman, G.2    Federici, A.3


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