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Journal Abstract Search

337 related items for PubMed ID: 17139364

  • 1. Differential effects of the loss of intrachain- versus interchain-disulfide bonds in the cystine-knot domain of von Willebrand factor on the clinical phenotype of von Willebrand disease.
    Tjernberg P, Vos HL, Spaargaren-van Riel CC, Luken BM, Voorberg J, Bertina RM, Eikenboom JC.
    Thromb Haemost; 2006 Dec; 96(6):717-24. PubMed ID: 17139364
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  • 2. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease.
    Schneppenheim R, Budde U, Obser T, Brassard J, Mainusch K, Ruggeri ZM, Schneppenheim S, Schwaab R, Oldenburg J.
    Blood; 2001 Apr 01; 97(7):2059-66. PubMed ID: 11264172
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  • 4. Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.
    Gadisseur A, Berneman Z, Schroyens W, Michiels JJ.
    Acta Haematol; 2009 Apr 01; 121(2-3):128-38. PubMed ID: 19506359
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  • 5. Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain.
    Casonato A, De Marco L, Gallinaro L, Sztukowska M, Mazzuccato M, Battiston M, Pagnan A, Ruggeri ZM.
    Thromb Haemost; 2007 Apr 01; 97(4):527-33. PubMed ID: 17393013
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  • 7. Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease.
    Hommais A, Stépanian A, Fressinaud E, Mazurier C, Pouymayou K, Meyer D, Girma JP, Ribba AS.
    Thromb Haemost; 2006 May 01; 95(5):776-81. PubMed ID: 16676067
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  • 8. Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.
    Wang JW, Groeneveld DJ, Cosemans G, Dirven RJ, Valentijn KM, Voorberg J, Reitsma PH, Eikenboom J.
    Haematologica; 2012 Jun 01; 97(6):859-66. PubMed ID: 22207689
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  • 11. VWF-Gly2752Ser, a novel non-cysteine substitution variant in the CK domain, exhibits severe secretory impairment by hampering C-terminal dimer formation.
    Okamoto S, Tamura S, Sanda N, Odaira K, Hayakawa Y, Mukaide M, Suzuki A, Kanematsu T, Hayakawa F, Katsumi A, Kiyoi H, Kojima T, Matsushita T, Suzuki N.
    J Thromb Haemost; 2022 Aug 01; 20(8):1784-1796. PubMed ID: 35491445
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  • 13. A novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers.
    O'Brien LA, Sutherland JJ, Hegadorn C, Benford K, Racz H, Rapson D, Hough C, Lillicrap D.
    J Thromb Haemost; 2004 Jul 01; 2(7):1135-42. PubMed ID: 15219197
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  • 14. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.
    Eikenboom JC, Matsushita T, Reitsma PH, Tuley EA, Castaman G, Briët E, Sadler JE.
    Blood; 1996 Oct 01; 88(7):2433-41. PubMed ID: 8839833
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