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Journal Abstract Search

198 related items for PubMed ID: 7620154

  • 1. Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.
    Hilbert L, Gaucher C, Mazurier C.
    Blood; 1995 Aug 01; 86(3):1010-8. PubMed ID: 7620154
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  • 2. Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations.
    de Romeuf C, Hilbert L, Mazurier C.
    Thromb Haemost; 1998 Jan 01; 79(1):211-6. PubMed ID: 9459349
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  • 3. A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease.
    Stepanian A, Ribba AS, Lavergne JM, Fressinaud E, Juhan-Vague I, Mazurier C, Girma JP, Meyer D.
    Br J Haematol; 2003 Feb 01; 120(4):643-51. PubMed ID: 12588351
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  • 4. The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor.
    Ribba AN, Hilbert L, Lavergne JM, Fressinaud E, Boyer-Neumann C, Ternisien C, Juhan-Vague I, Goudemand J, Girma J, Mazurier C, Meyer D.
    Blood; 2001 Feb 15; 97(4):952-9. PubMed ID: 11159522
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  • 5. Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib.
    Rabinowitz I, Randi AM, Shindler KS, Tuley EA, Rustagi PK, Sadler JE.
    J Biol Chem; 1993 Sep 25; 268(27):20497-501. PubMed ID: 8376405
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  • 6. Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease.
    Baronciani L, Federici AB, Cozzi G, Canciani MT, Mannucci PM.
    J Thromb Haemost; 2007 Feb 25; 5(2):282-8. PubMed ID: 17155947
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  • 7. Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets.
    Hillery CA, Mancuso DJ, Evan Sadler J, Ponder JW, Jozwiak MA, Christopherson PA, Cox Gill J, Paul Scott J, Montgomery RR.
    Blood; 1998 Mar 01; 91(5):1572-81. PubMed ID: 9473222
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  • 9. Effect of recombinant von Willebrand factor reproducing type 2B or type 2M mutations on shear-induced platelet aggregation.
    Ajzenberg N, Ribba AS, Rastegar-Lari G, Meyer D, Baruch D.
    Blood; 2000 Jun 15; 95(12):3796-803. PubMed ID: 10845912
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  • 12. Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets.
    Kroner PA, Kluessendorf ML, Scott JP, Montgomery RR.
    Blood; 1992 Apr 15; 79(8):2048-55. PubMed ID: 1373334
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  • 17. Recombinant von Willebrand factor Arg578-->Gln. A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not to collagen or heparin.
    Randi AM, Jorieux S, Tuley EA, Mazurier C, Sadler JE.
    J Biol Chem; 1992 Oct 15; 267(29):21187-92. PubMed ID: 1400429
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  • 18. Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease.
    Ribba AS, Christophe O, Derlon A, Cherel G, Siguret V, Lavergne JM, Girma JP, Meyer D, Pietu G.
    Blood; 1994 Feb 01; 83(3):833-41. PubMed ID: 8298143
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  • 20. Influence of mutations and size of multimers in type II von Willebrand disease upon the function of von Willebrand factor.
    Christophe O, Ribba AS, Baruch D, Obert B, Rouault C, Niinomi K, Piétu G, Meyer D, Girma JP.
    Blood; 1994 Jun 15; 83(12):3553-61. PubMed ID: 8204881
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