Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw–Schulman syndrome)

Journal of Thrombosis and Haemostasis - Tập 2 - Trang 424-429 - 2004
A. Veyradier1, J‐M. Lavergne1, A‐S. Ribba1, B. Obert1, C. Loirat2, D. Meyer1, J‐P. Girma1
1INSERM U143, Le Kremlin Bicêtre and
2Service de Néphrologie, Hôpital Robert Debré, Paris, France

Tài liệu tham khảo

Furlan, 2001, Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uremic syndrome: the role of von Willebrand factor‐cleaving protease, Best Pract Res Clin Haematol, 14, 437, 10.1053/beha.2001.0142 Sadler, 2002, A new name in thrombosis, ADAMTS13, Proc Natl Acad Sci USA, 99, 11552, 10.1073/pnas.192448999 Tsai, 2003, Deficiency of ADAMTS13 causes thrombotic thrombocytopenic purpura, Arterioscler Thromb Vasc Biol, 23, 388, 10.1161/01.ATV.0000058401.34021.D4 Fujimura, 2002, von Willebrand factor‐cleaving protease and Upshaw–Schulman syndrome, Int J Hematol, 75, 25, 10.1007/BF02981975 Moake, 2002, Mechanisms of disease—thrombotic microangiopathies, N Engl J Med, 347, 589, 10.1056/NEJMra020528 Furlan, 1996, Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis, Blood, 87, 4223, 10.1182/blood.V87.10.4223.bloodjournal87104223 Tsaï, 1996, Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion, Blood, 87, 4235, 10.1182/blood.V87.10.4235.bloodjournal87104235 Furlan, 1998, von Willebrand factor‐cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic–uremic syndrome, N Engl J Med, 339, 1578, 10.1056/NEJM199811263392202 Tsaï, 1998, Antibodies to von Willebrand factor‐cleaving protease in acute thrombotic thrombocytopenic purpura, N Engl J Med, 339, 1585, 10.1056/NEJM199811263392203 Fujikawa, 2001, Purification of human von Willebrand factor‐cleaving protease and its identification as a new member of the metalloprotease family, Blood, 98, 1662, 10.1182/blood.V98.6.1662 Zheng, 2001, Structure of von Willebrand factor‐cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura, J Biol Chem, 276, 41059, 10.1074/jbc.C100515200 Gerritsen, 2001, Partial amino acid sequence of purified von Willebrand factor‐cleaving protease, Blood, 98, 1654, 10.1182/blood.V98.6.1654 Levy, 2001, Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura, Nature, 413, 488, 10.1038/35097008 Kokame, 2002, Mutations and common polymorphisms in ADAMTS 13 gene responsible for von Willebrand factor‐cleaving protease activity, Proc Natl Acad Sci USA, 99, 11902, 10.1073/pnas.172277399 Motto, 2002, ADAMTS13 mutations identified in familial TTP patients result in loss of von Willebrand factor‐cleaving protease activity, Blood, 100, 15a Kentouche, 2002, Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor‐cleaving protease by infusion of solvent/detergent plasma, Acta Paediatr, 91, 1056, 10.1111/j.1651-2227.2002.tb00099.x Antoine, 2003, ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor‐cleaving protease activity by recombinant human ADAMTS13, Br J Haematol, 120, 821, 10.1046/j.1365-2141.2003.04183.x Schneppenheim, 2003, Von Willebrand factor‐cleaving protease and ADAMTS 13 mutations in childhood TTP, Blood, 101, 1845, 10.1182/blood-2002-08-2399 Assink, 2003, Mutation analysis and clinical implications of von Willebrand factor‐cleaving protease deficiency, Kidney Int, 63, 1995, 10.1046/j.1523-1755.63.6s.1.x Savasan, 2003, ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity, Blood, 101, 4449, 10.1182/blood-2002-12-3796 Matsumoto, 2003, Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw–Schulman syndrome, Blood, 10.1182/blood-2003-06-1796 Pimanda, 2003, Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13, Blood Veyradier, 2001, Specific von Willebrand factor‐cleaving protease in thrombotic microangiopathies: a study of 111 cases, Blood, 98, 1765, 10.1182/blood.V98.6.1765 Veyradier, 2003, Severe deficiency of specific von Willebrand factor‐cleaving protease (ADAMTS 13) activity in a subgroup of children with atypical hemolytic uremic syndrome, J Pediatrics, 142, 310, 10.1067/mpd.2003.79 Deschenes, 2002, Plasma therapy in von Willebrand factor protease deficiency, Pediatr Nephrol, 17, 867, 10.1007/s00467-002-0944-9 Obert, 1999, Estimation of the von Willebrand factor‐cleaving protease in plasma using monoclonal antibodies to vWF, Thromb Haemost, 82, 1382, 10.1055/s-0037-1614779 Zheng, 2003, Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13, J Biol Chem, 278, 30136, 10.1074/jbc.M305331200 Soejima, 2003, ADAMTS13 cysteine‐rich/spacer domains are functionally essential for von Willebrand factor cleavage, Blood, 102, 3232, 10.1182/blood-2003-03-0908 Bernardo, 2003, Peptides from the C‐terminal regions of ADAMTS‐13 specifically block cleavage of ultra‐large von Willebrand factor multimers on the endothelial surface under flow, J Thomb Haemost