메뉴 건너뛰기




Volumn 5, Issue SUPPL. 1, 2007, Pages 7-11

Type 1 von Willebrand disease

Author keywords

Mutation analysis; Type 1; von Willebrand disease; von Willebrand factor

Indexed keywords

VON WILLEBRAND FACTOR;

EID: 34250726088     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2007.02488.x     Document Type: Review
Times cited : (21)

References (24)
  • 1
    • 0028201807 scopus 로고
    • A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
    • Sadler JE. A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1994; 71: 520-5.
    • (1994) Thromb Haemost , vol.71 , pp. 520-525
    • Sadler, J.E.1
  • 3
    • 0029817840 scopus 로고    scopus 로고
    • Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor
    • Briët E, Sadler JE. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood 1996; 88: 2433-41.
    • (1996) Blood , vol.88 , pp. 2433-2441
    • Briët, E.1    Sadler, J.E.2
  • 4
    • 0035892101 scopus 로고    scopus 로고
    • Type 1 von Willebrand disease mutations Cys1149Arg causes intracellular retention and degradation of heterodimers: A possible general mechanism for dominant mutations of oligomeric proteins
    • BodóI, Katsumi A, Tuleu EA, Eikenboom JC, Dong Z, Sadler JE. Type 1 von Willebrand disease mutations Cys1149Arg causes intracellular retention and degradation of heterodimers: A possible general mechanism for dominant mutations of oligomeric proteins. Blood 2001; 98: 2973-9.
    • (2001) Blood , vol.98 , pp. 2973-2979
    • Bodó, I.1    Katsumi, A.2    Tuleu, E.A.3    Eikenboom, J.C.4    Dong, Z.5    Sadler, J.E.6
  • 5
    • 4644240711 scopus 로고    scopus 로고
    • Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues
    • Tjernerg P, Vox HL, Castaman G, Bertina RM, Eikenboom JC. Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues. J Thromb Haemost 2004; 2: 257-65.
    • (2004) J Thromb Haemost , vol.2 , pp. 257-265
    • Tjernerg, P.1    Vox, H.L.2    Castaman, G.3    Bertina, R.M.4    Eikenboom, J.C.5
  • 6
    • 0036715153 scopus 로고    scopus 로고
    • Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156 M) in the D3 d]omain of the von Willebrand factor and a stop mutation (Q2470X)
    • Lethagen S, Isaksson C, Schaedel C, Holmberg L. Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156 M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X). Thromb Haemost 2002; 88: 421-6.
    • (2002) Thromb Haemost , vol.88 , pp. 421-426
    • Lethagen, S.1    Isaksson, C.2    Schaedel, C.3    Holmberg, L.4
  • 11
    • 0023815697 scopus 로고
    • Luminography - An alternative assay for the detection of von Willebrand factor multimers
    • Schneppenheim R, Plendl H, Budde U. Luminography - an alternative assay for the detection of von Willebrand factor multimers. Thromb. Haemost 1988; 60: 133-6.
    • (1988) Thromb. Haemost , vol.60 , pp. 133-136
    • Schneppenheim, R.1    Plendl, H.2    Budde, U.3
  • 12
    • 0034912338 scopus 로고    scopus 로고
    • Type 2 N von Willebrand disease: Clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology
    • Mazurier C, Goudemand J, Hilbert L, Caron C, Fressinaud E, Meyer D. Type 2 N von Willebrand disease: Clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol 2001; 14: 337-47.
    • (2001) Best Pract Res Clin Haematol , vol.14 , pp. 337-347
    • Mazurier, C.1    Goudemand, J.2    Hilbert, L.3    Caron, C.4    Fressinaud, E.5    Meyer, D.6
  • 13
  • 17
    • 33644984651 scopus 로고    scopus 로고
    • Genetic linkage and association analysis in type 1 von Willebrand disease: Results from the Canadian Type 1 VWD Study
    • Association of Hemophilia Clinic Directors of Canada, D Lillicrap
    • James PD, Paterson AD, Notley C, Cameron C, Hegadorn C, Tinlin S, Brown C, O'Brien L, Leggo J, Association of Hemophilia Clinic Directors of Canada, D Lillicrap. Genetic linkage and association analysis in type 1 von Willebrand disease: Results from the Canadian Type 1 VWD Study. J Thromb Haemost 2006; 4: 783-92.
    • (2006) J Thromb Haemost , vol.4 , pp. 783-792
    • James, P.D.1    Paterson, A.D.2    Notley, C.3    Cameron, C.4    Hegadorn, C.5    Tinlin, S.6    Brown, C.7    O'Brien, L.8    Leggo, J.9
  • 18
    • 0032823229 scopus 로고
    • Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation
    • Castaman G, Eikenboom JCJ, Bertina RM, Rodeghiero F. Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb Haemost 1992; 82: 1065-70.
    • (1992) Thromb Haemost , vol.82 , pp. 1065-1070
    • Castaman, G.1    Eikenboom, J.C.J.2    Bertina, R.M.3    Rodeghiero, F.4
  • 19
    • 0035676504 scopus 로고    scopus 로고
    • Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene
    • Casana O, Martinez F, Haya S, Espinos C, Aznar JA. Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene. Br J Haematol 2001; 115: 692-700.
    • (2001) J Haematol , vol.115 , pp. 692-700
    • Casana, O.1    Martinez, F.2    Haya, S.3    Espinos, C.4    Aznar, J.A.5
  • 21
    • 0033137301 scopus 로고    scopus 로고
    • Low platelet alpha2beta1 levels in type 1 von Willebrand disease correlate with impaired platelet function in a high shear stress system
    • Di Paola J, Federici AB, Mannucci PM, Canciani MT, Kritzik M, Kunicki TJ, Nugent D. Low platelet alpha2beta1 levels in type 1 von Willebrand disease correlate with impaired platelet function in a high shear stress system. Blood 1999; 93: 3578-82.
    • (1999) Blood , vol.93 , pp. 3578-3582
    • Di Paola, J.1    Federici, A.B.2    Mannucci, P.M.3    Canciani, M.T.4    Kritzik, M.5    Kunicki, T.J.6    Nugent, D.7
  • 23
    • 33846430575 scopus 로고    scopus 로고
    • Genetic regulation of plasma von Willebrand factor levels: Quantitative trait loci analysis in a mouse model
    • Lemmerhirt HL, Broman KW, Shavit JA, Ginsburg D. Genetic regulation of plasma von Willebrand factor levels: Quantitative trait loci analysis in a mouse model. J Thromb Haemost 2007; 5: 329-35.
    • (2007) J Thromb Haemost , vol.5 , pp. 329-335
    • Lemmerhirt, H.L.1    Broman, K.W.2    Shavit, J.A.3    Ginsburg, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.