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Zheng X, Chung D, Takayama TK, Majerus EM, Sadler JE, Fujikawa K. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem. 2001;276 :41059-63
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Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D, Tsai HM. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001;413:488-94
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Padilla A, Moake JL, Bernardo A, Ball C, Wang Y, Arya M, Nolasco L, Turner N, Berndt MC, Anvari B, Lopez JA, Dong JF. P-selectin anchors newly released ultralarge von Willebrand factor multimers to the endothelial cell surface. Blood. 2004; 103:2150-6
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Dong JF, Moake JL, Nolasco L, Bernardo A, Arceneaux W, Shrimpton CN, Schade AJ, McIntire LV, Fujikawa K, Lopez JA. ADAMTS-13 rapidly cleaves newly secreted ultralarge von Willebrand factor multimers on the endothelial surface under flowing conditions. Blood. 2002 ;100:4033-9
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Dong JF, Moake JL, Bernardo A, Fujikawa K, Ball C, Nolasco L, Lopez JA, Cruz MA. ADAMTS-13 metalloprotease interacts with the endothelial cell-derived ultra-large von Willebrand factor. J Biol Chem. 2003; 278:29633-9
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Upshaw JD. Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. N Engl J Med. 1978;298:1350-2; 10
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Rieger M, Mannucci PM, Kremer Hovinga JA, et al. ADAMTS13 autoantibodies in patients with thrombotic microangiopathies and other immunomediated diseases. Blood. 2005;106:1262-1267.
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Tsai HM, Raoufi M, Zhou W, et al. ADAMTS13-binding IgG are present in patients with thrombotic thrombocytopenic purpura. Thromb Haemost. 2006;95:886-892.
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Shelat SGP, Smith J, Zheng XL. Inhibitory antibodies against ADAMTS-13 in patients with thrombotic thrombocytopenic purpura bind ADAMTS-13 protease and may accelarate its clearance in vivo. J Thromb Haemost. 2006;4:1707-1717.
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Sadler JE. Thrombotic thrombocytopenic purpura: a moving target. Hematology Am Soc Hematol Educ Program. 2006;415-20
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Remuzzi G, Galbusera M, Noris M, Canciani MT, Daina E, Bresin E, Contaretti S, Caprioli J, Gamba S, Ruggenenti P, Perico N, Mannucci PM; Italian Registry of Recurrent and Familial HUS/TTP. Thrombotic thrombocytopenic purpura/hemolytic uremic syndrome. von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. Blood. 2002;100:778-85
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George JN, Vesely SK, Terrell DR. The Oklahoma Thrombotic Thrombocytopenic Purpura-Hemolytic Uremic Syndrome (TTP-HUS) Registry: a community perspective of patients with clinically diagnosed TTP-HUS. Semin Hematol. 2004;41:60-7
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Coppo P, Bengoufa D, Veyradier A, Wolf M, Bussel A, Millot GA, Malot S, Heshmati F, Mira JP, Boulanger E, Galicier L, Durey-Dragon MA, Fremeaux-Bacchi V, Ramakers M, Pruna A, Bordessoule D, Gouilleux V, Scrobohaci ML, Vernant JP, Moreau D, Azoulay E, Schlemmer B, Guillevin L, Lassoued K; Reseau d'Etude des Microangiopathies Thrombotiques de l'Adulte. Severe ADAMTS13 deficiency in adult idiopathic thrombotic microangiopathies defines a subset of patients characterized by various autoimmune manifestations, lower platelet count, and mild renal involvement. Medicine (Baltimore) 2004;83:233-44
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Peyvandi F, Ferrari S, Lavoretano S, Canciani MT, Mannucci PM. von Willebrand factor cleaving protease (ADAMTS-13) and ADAMTS-13 neutralizing autoantibodies in 100 patients with thrombotic thrombocytopenic purpura. Br J Haematol. 2004;127:433-9
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Veyradier A, Lavergne JM, Ribba AS, Obert B, Loirat C, Meyer D, Girma JP. Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). J Thromb Haemost. 2004;2:424-9
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Furlan M, Lammle B. Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome: the role of von Willebrand factor-cleaving protease. Best Pract Res Clin Haematol. 2001;14:437-54
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Chang JC, Kathula SK. Various clinical manifestation in patients with thrombotic microangiopahty. Journal of Investigative Medicine 2002;50:201-6
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Guideline of the diagnosis and management of thrombotic microangiopathic haemolytic anemias. British Journal of Hematology 2003; 120: 556-573
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Bell WR, Braine HG, Ness PM, Kickler TS. Improved survival in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome. Clinical experience in 108 patiens. N Engl J Med 1991;325: 398-403
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Dervenoulas J, Tsirigotis P, Bollas G, Koumarianou AA, Pappa V, Mantzios G, Xiros N, Economopoulos T, Papageorgiou E, Pappa M, Raptis SA. Efficacy of intravenous immunoglobulin in the treatment of thrombotic thrombocytopaenic purpura. A study of 44 cases. Acta Haematol 2001;105:204-8
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Crowther MA, Heddle N, Hayward CP, Warkentin T, Kelton JG. Splenectomy done during hematologic remission to prevent relapse in patients with thrombotic thrombocytopenic purpura. Ann Intern Med 1996; 125:294-6
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Allan DS, Kovasc Mj, Clark WF. Frequently relapsing thrombotic thrombocytopenic purpura treated with cytotoxic immunosuppressive therapy. Haematologica 2001; 86:844-50
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Zheng X, Pallera AM, Goodnough LT. Remission of chronic thrombocytopenic purpura after treatment with cyclophosphamide and rituximab Ann Intern Med 2003;138:105-108
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George JN, Woodson RD, Kiss JE, Kojouri K, Vesely SK. Rituximab therapy for thrombotic thrombocytopenic purpura: a proposed study of the Transfusion Medicine/Hemostasis Clinical Trials Network with a systematic review of rituximab therapy for immune-mediated disorders. J Clin Apher. 2006;21:49-56
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Donadelli R, Banterla F, Galbusera M, Capoferri C, Bucchioni S, Gastoldi S, Nosari S, Monteferrante G, Ruggeri ZM, Bresin E, Scheiflinger F, Rossi E, Martinez C, Coppo R, Remuzzi G, Noris M; on behalf of the International Registry of Recurrent and Familial HUS/TTP. In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura. Thromb Haemost. 2006;96:454-64
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Antoine G, Zimmermann K, Plaimauer B, Grillowitzer M, Studt JD, Lammle B, Scheiflinger F. 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. 2003;120:821-4
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Veyradier A, Lavergne JM, Ribba AS, Obert B, Loirat C, Meyer D, Girma JP. Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). J Thromb Haemost. 2004;2:424-9
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Bestetti G, Stellari A, Lattuada A, Corbellino M, Parravicini C, Calzarossa C, Cenzuales S, Moroni M, Galli M, Rossi E. ADAMTS 13 genotype and vWF protease activity in an Italian family with TTP. Thromb Haemost. 2003;90:955-6
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Matsumoto M, Kokame K, Soejima K, Miura M, Hayashi S, Fujii Y, Iwai A, Ito E, Tsuji Y, Takeda-Shitaka M, Iwadate M, Umeyama H, Yagi H, Ishizashi H, Banno F, Nakagaki T, Miyata T, Fujimura Y. Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome.Blood 2004;103:1305-10
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Studt JD, Hovinga JA, Radonic R, Gasparovic V, Ivanovic D, Merkler M, Wirthmueller U, Dahinden C, Furlan M, Lammle B. Familial acquired thrombotic thrombocytopenic purpura: ADAMTS13 inhibitory autoantibodies in identical twins. Blood 2004;103:4195-7
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Schneppenheim R, Budde U, Oyen F, Angerhaus D, Aumann V, Drewke E, Hassenpflug W, Haberle J, Kentouche K, Kohne E, Kurnik K, Mueller-Wiefel D, Obser T, Santer R, Sykora KW. von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. Blood 2003;101:1845-50
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Shibagaki Y, Matsumoto M, Kokame K, Ohba S, Miyata T, Fujimura Y, Fujita T. Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.
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Assink K, Schiphorst R, Allford S, Karpman D, Etzioni A, Brichard B, van de Kar N, Monnens L, van den Heuvel L. Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. Kidney Int. 2003;63:1995-9
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Uchida T, Wada H, Mizutani M, Iwashita M, Ishihara H, Shibano T, Suzuki M, Matsubara Y, Soejima K, Matsumoto M, Fujimura Y, Ikeda Y, Murata M; Research Project on Genetics of Thrombosis. Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. Blood. 2004;104:2081-3
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Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci U S A. 2002;99:11902-7
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Schneppenheim R, Kremer Hovinga JA, Becker T, Budde U, Karpman D, Brockhaus W, Hrachovinova I, Korczowski B, Oyen F, Rittich S, von Rosen J, Tjonnfjord GE, Pimanda JE, Wienker TF, Lammle B. A common origin of the 4143insA ADAMTS13 mutation. Thromb Haemost. 2006;96:3-6
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Tao Z, Anthony K, Pen ‚Y, Choi H, Nolasco L, Rice L, Moake JL, Dong JF. Novel ADAMTS 13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura. J Thromb Haemost. 2006;4:1931-5
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Licht C, Stapenhorst L, Simon T, Budde U, Schneppenheim R, Hoppe B. Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). Kidney Int. 2004;66:955-8
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Savasan S, Lee SK, Ginsburg D, Tsai HM. ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity. Blood. 2003;101:4449-51
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Peyvandi F, Lavoretano S, Palla R, Valsecchi C, Merati G, De Cristofaro R, Rossi E, Mannuccio Mannucci P. Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity. Hum Mutat. 2006;27:330-6
   
 

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