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Journal Abstract Search
187 related items for PubMed ID: 35064738
1. The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients. Pagliari MT, Baronciani L, Cordiglieri C, Colpani P, Cozzi G, Siboni SM, Peyvandi F. Haemophilia; 2022 Mar; 28(2):292-300. PubMed ID: 35064738 [Abstract] [Full Text] [Related]
2. 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; 5(2):282-8. PubMed ID: 17155947 [Abstract] [Full Text] [Related]
3. Type 2A (IIH) von Willebrand disease is due to mutations that affect von Willebrand factor multimerization. Baronciani L, Federici AB, Punzo M, Solimando M, Cozzi G, La Marca S, Rubini V, Canciani MT, Mannucci PM. J Thromb Haemost; 2009 Jul; 7(7):1114-22. PubMed ID: 19422453 [Abstract] [Full Text] [Related]
10. von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention. Yadegari H, Biswas A, Ahmed S, Naz A, Oldenburg J. Hum Mutat; 2021 Jun; 42(6):731-744. PubMed ID: 33942438 [Abstract] [Full Text] [Related]
11. Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor. Daidone V, Barbon G, Pontara E, Cattini GM, Gallinaro L, Zampese E, Pizzo P, Casonato A. Thromb Haemost; 2014 Dec; 112(6):1159-66. PubMed ID: 25230768 [Abstract] [Full Text] [Related]
12. von Willebrand factor propeptide variants lead to impaired storage and ER retention in patient-derived endothelial colony-forming cells. Bowman M, Casey L, Selvam SN, Lima PDA, Rawley O, Hinds M, Tuttle A, Grabell J, Iorio A, Walker I, Lillicrap D, James P. J Thromb Haemost; 2022 Jul; 20(7):1599-1609. PubMed ID: 35466528 [Abstract] [Full Text] [Related]
17. 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 [Abstract] [Full Text] [Related]