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Volumn 40, Issue 4, 2014, Pages 487-492

Inherited thrombotic thrombocytopenic purpura in children

Author keywords

ADAMTS 13; molecular genetics; thrombotic thrombocytopenic purpura; Upshaw Schulman syndrome; von Willebrand factor

Indexed keywords

VON WILLEBRAND FACTOR CLEAVING PROTEINASE; ADAM PROTEIN; ADAMTS13 PROTEIN, HUMAN;

EID: 84902277744     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0034-1376152     Document Type: Article
Times cited : (27)

References (23)
  • 1
    • 0037158606 scopus 로고    scopus 로고
    • Thrombotic microangiopathies
    • Moake J. L. Thrombotic microangiopathies. N Engl J Med: 2002; 347 589 600
    • (2002) N Engl J Med , vol.347 , pp. 589-600
    • Moake, J.L.1
  • 2
    • 0025044664 scopus 로고
    • Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor
    • Dent J. A., Berkowitz S. D., Ware J., Kasper C. K., Ruggeri Z. M. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci U S A: 1990; 87 6306 6310
    • (1990) Proc Natl Acad Sci U S A , vol.87 , pp. 6306-6310
    • Dent, J.A.1    Berkowitz, S.D.2    Ware, J.3    Kasper, C.K.4    Ruggeri, Z.M.5
  • 3
    • 0002978048 scopus 로고
    • Hyaline thrombosis of the terminal arterioles and capillaries: A hitherto undescribed disease
    • Moschcowitz E. Hyaline thrombosis of the terminal arterioles and capillaries: a hitherto undescribed disease. Proc N Y Pathol Soc: 1924; 24 21 24
    • (1924) Proc N y Pathol Soc , vol.24 , pp. 21-24
    • Moschcowitz, E.1
  • 4
    • 72849154313 scopus 로고
    • Studies on thrombopoiesis. I. A factor in normal human plasma required for platelet production; Chronic thrombocytopenia due to its deficiency
    • Schulman I., Pierce M., Lukens A., Currinbhoy Z. Studies on thrombopoiesis. I. A factor in normal human plasma required for platelet production; chronic thrombocytopenia due to its deficiency. Blood: 1960; 16 943 957
    • (1960) Blood , vol.16 , pp. 943-957
    • Schulman, I.1    Pierce, M.2    Lukens, A.3    Currinbhoy, Z.4
  • 5
    • 0018098453 scopus 로고
    • Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia
    • Upshaw J. D. Jr. Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. N Engl J Med: 1978; 298 1350 1352
    • (1978) N Engl J Med , vol.298 , pp. 1350-1352
    • Upshaw Jr., J.D.1
  • 6
    • 0020428664 scopus 로고
    • Unusually large plasma factor VIII: Von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura
    • Moake J. L., Rudy C. K., Troll J. H., et al. Unusually large plasma factor VIII: von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med: 1982; 307 1432 1435
    • (1982) N Engl J Med , vol.307 , pp. 1432-1435
    • Moake, J.L.1    Rudy, C.K.2    Troll, J.H.3
  • 7
    • 0029925856 scopus 로고    scopus 로고
    • Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis
    • Furlan M., Robles R., Lamie B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood: 1996; 87 4223 4234
    • (1996) Blood , vol.87 , pp. 4223-4234
    • Furlan, M.1    Robles, R.2    Lamie, B.3
  • 8
    • 0029878123 scopus 로고    scopus 로고
    • Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion
    • Tsai H. M. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood: 1996; 87 4235 4244
    • (1996) Blood , vol.87 , pp. 4235-4244
    • Tsai, H.M.1
  • 9
    • 0035885972 scopus 로고    scopus 로고
    • Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family
    • Fujikawa K., Suzuki H., McMullen B., Chung D. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. Blood: 2001; 98 1662 1666
    • (2001) Blood , vol.98 , pp. 1662-1666
    • Fujikawa, K.1    Suzuki, H.2    McMullen, B.3    Chung, D.4
  • 10
    • 0035885962 scopus 로고    scopus 로고
    • Partial amino acid sequence of purified von Willebrand factor-cleaving protease
    • Gerritsen H. E., Robles R., Lammle B., Furlan M. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood: 2001; 98 1654 1661
    • (2001) Blood , vol.98 , pp. 1654-1661
    • Gerritsen, H.E.1    Robles, R.2    Lammle, B.3    Furlan, M.4
  • 11
    • 0035807348 scopus 로고    scopus 로고
    • Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
    • Levy G. G., Nichols W. C., Lian E. C., et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature: 2001; 413 488 494
    • (2001) Nature , vol.413 , pp. 488-494
    • Levy, G.G.1    Nichols, W.C.2    Lian, E.C.3
  • 12
    • 0034759807 scopus 로고    scopus 로고
    • A novel human metalloprotease synthesized in the liver and secreted into the blood: Possibly, the von Willebrand factor-cleaving protease
    • Soejima K., Mimura N., Hirashima M., et al. A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease? J Biochem: 2001; 130 475 480
    • (2001) J Biochem , vol.130 , pp. 475-480
    • Soejima, K.1    Mimura, N.2    Hirashima, M.3
  • 14
    • 0032841681 scopus 로고    scopus 로고
    • New strategies in diagnosis and treatment of thrombotic thrombocytopenic purpura: Case report and review
    • Haberle J., Kehrel B., Ritter J., et al. New strategies in diagnosis and treatment of thrombotic thrombocytopenic purpura: case report and review. Eur J Pediatr: 1999; 158 883 887
    • (1999) Eur J Pediatr , vol.158 , pp. 883-887
    • Haberle, J.1    Kehrel, B.2    Ritter, J.3
  • 15
    • 0036399645 scopus 로고    scopus 로고
    • Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma
    • Kentouche K., Budde U., Furlan M., et al. 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: 2002; 91 1056 1059
    • (2002) Acta Paediatr , vol.91 , pp. 1056-1059
    • Kentouche, K.1    Budde, U.2    Furlan, M.3
  • 16
    • 4344637504 scopus 로고    scopus 로고
    • Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)
    • Licht C., Stapenhorst L., Simon T., et al. Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). Kidney Int: 2004; 66 955 958
    • (2004) Kidney Int , vol.66 , pp. 955-958
    • Licht, C.1    Stapenhorst, L.2    Simon, T.3
  • 17
    • 0037372508 scopus 로고    scopus 로고
    • Von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP
    • Schneppenheim R., Budde U., Oyen F., et al. von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. Blood: 2003; 101 1845 1850
    • (2003) Blood , vol.101 , pp. 1845-1850
    • Schneppenheim, R.1    Budde, U.2    Oyen, F.3
  • 20
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen J. T., Antonarakis S. E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat: 2000; 15 7 12
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 21
    • 79960635121 scopus 로고    scopus 로고
    • Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan
    • 01
    • Fujimura Y., Matsumoto M., Isonishi A., et al. Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan. J Thromb Haemost: 2011; 9 01 283 301
    • (2011) J Thromb Haemost , vol.9 , pp. 283-301
    • Fujimura, Y.1    Matsumoto, M.2    Isonishi, A.3
  • 22
    • 74049137935 scopus 로고    scopus 로고
    • ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura
    • Lotta L. A., Garagiola I., Palla R., Cairo A., Peyvandi F. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum Mutat: 2010; 31 11 19
    • (2010) Hum Mutat , vol.31 , pp. 11-19
    • Lotta, L.A.1    Garagiola, I.2    Palla, R.3    Cairo, A.4    Peyvandi, F.5
  • 23
    • 84864041240 scopus 로고    scopus 로고
    • Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura
    • Lotta L. A., Wu H. M., Mackie I. J., et al. Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood: 2012; 120 440 448
    • (2012) Blood , vol.120 , pp. 440-448
    • Lotta, L.A.1    Wu, H.M.2    Mackie, I.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.