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Volumn 18, Issue SUPPL.4, 2012, Pages 154-160

Inherited platelet disorders

Author keywords

Bleeding syndromes; Diagnosis; Inherited disorders; Platelets; Treatment

Indexed keywords

AMINOCAPROIC ACID; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 9; CONJUGATED ESTROGEN; DESMOPRESSIN; ELTROMBOPAG; GESTAGEN; GLYCOPROTEIN IB; HEPATITIS B VACCINE; INTEGRIN; INTEGRIN ALPHA2BETA3; MEDROXYPROGESTERONE ACETATE; NONSTEROID ANTIINFLAMMATORY AGENT; PROCOAGULANT; RECOMBINANT BLOOD CLOTTING FACTOR 7A; ROMIPLOSTIM; THROMBOPOIETIN; TRANEXAMIC ACID; UNCLASSIFIED DRUG;

EID: 84862893491     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2012.02856.x     Document Type: Article
Times cited : (111)

References (48)
  • 2
    • 79960636704 scopus 로고    scopus 로고
    • Advances in our understanding of the molecular basis of disorders of platelet function
    • Nurden A, Nurden P. Advances in our understanding of the molecular basis of disorders of platelet function. J Thromb Haemost 2011; 9: 76-91.
    • (2011) J Thromb Haemost , vol.9 , pp. 76-91
    • Nurden, A.1    Nurden, P.2
  • 3
    • 79957989577 scopus 로고    scopus 로고
    • Diagnostic evaluation of platelet function disorders
    • Hayward CP. Diagnostic evaluation of platelet function disorders. Blood Rev 2011; 25: 169-73.
    • (2011) Blood Rev , vol.25 , pp. 169-173
    • Hayward, C.P.1
  • 5
    • 80052574167 scopus 로고    scopus 로고
    • British Committee for Standards in Haematology. Guidelines for the laboratory investigation of heritable disorders of platelet function
    • Harrison P, Mackie I, Mumford A, Briggs C, Liesner R, Wintger M, Machin S. British Committee for Standards in Haematology. Guidelines for the laboratory investigation of heritable disorders of platelet function. Br J Haematol 2011; 155: 30-44.
    • (2011) Br J Haematol , vol.155 , pp. 30-44
    • Harrison, P.1    Mackie, I.2    Mumford, A.3    Briggs, C.4    Liesner, R.5    Wintger, M.6    Machin, S.7
  • 7
    • 77950967181 scopus 로고    scopus 로고
    • Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B
    • Nurden P, Gobbi G, Nurden A, Enouf J, Youlyouz-Marfak I, Carubbi C, La Marca S, et al. Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B. Blood 2010; 115: 2649-56.
    • (2010) Blood , vol.115 , pp. 2649-2656
    • Nurden, P.1    Gobbi, G.2    Nurden, A.3    Enouf, J.4    Youlyouz-Marfak, I.5    Carubbi, C.6    La Marca, S.7
  • 8
    • 79951848755 scopus 로고    scopus 로고
    • The platelet P2Y12 receptor for adnosine diphosphate: congenital and drug-induced defects
    • Cattaneo M. The platelet P2Y12 receptor for adnosine diphosphate: congenital and drug-induced defects. Blood 2011; 117: 2102-12.
    • (2011) Blood , vol.117 , pp. 2102-2112
    • Cattaneo, M.1
  • 9
    • 77949281858 scopus 로고    scopus 로고
    • Phenotypic approaches to gene mapping in platelet function disorders. Identification of new variant of P2Y12, TxA2 and GPVI receptors
    • Watson S, Daly M, Dawood B, Gissen P, Makris M, Mundell S, Wilde J, Mumford A. Phenotypic approaches to gene mapping in platelet function disorders. Identification of new variant of P2Y12, TxA2 and GPVI receptors. Hämostaseologie 2010; 30: 29-38.
    • (2010) Hämostaseologie , vol.30 , pp. 29-38
    • Watson, S.1    Daly, M.2    Dawood, B.3    Gissen, P.4    Makris, M.5    Mundell, S.6    Wilde, J.7    Mumford, A.8
  • 10
    • 67849104651 scopus 로고    scopus 로고
    • Human platelet pathology related to defects in the G-protein signaling cascade
    • Van Geet C, Izzi B, Labarque V, Freson K. Human platelet pathology related to defects in the G-protein signaling cascade. J Thromb Haemost 2009; 7 (Suppl. 1): 282-6.
    • (2009) J Thromb Haemost , vol.7 , Issue.SUPPL. 1 , pp. 282-286
    • Van Geet, C.1    Izzi, B.2    Labarque, V.3    Freson, K.4
  • 15
    • 77949516918 scopus 로고    scopus 로고
    • Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene
    • Paterson AD, Rommens JM, Bharaj B, Blavignac J, Wong I, Diamandis M, Waye JS, et al. Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood 2010; 115: 1264-6.
    • (2010) Blood , vol.115 , pp. 1264-1266
    • Paterson, A.D.1    Rommens, J.M.2    Bharaj, B.3    Blavignac, J.4    Wong, I.5    Diamandis, M.6    Waye, J.S.7
  • 16
    • 82955207656 scopus 로고    scopus 로고
    • Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 dfefects with emphasis on variants, phenotypic variability, and mouse models
    • Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 dfefects with emphasis on variants, phenotypic variability, and mouse models. Blood 2011; 118: 5996-6005.
    • (2011) Blood , vol.118 , pp. 5996-6005
    • Nurden, A.T.1    Fiore, M.2    Nurden, P.3    Pillois, X.4
  • 17
    • 54049152026 scopus 로고    scopus 로고
    • The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend
    • Coller BS, Shattil SJ. The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend. Blood 2006; 112: 3011-25.
    • (2006) Blood , vol.112 , pp. 3011-3025
    • Coller, B.S.1    Shattil, S.J.2
  • 18
    • 50349098094 scopus 로고    scopus 로고
    • Specific cysteines in β3 are involved in disulfide bond exchange-dependent and -independent activation of αIIbβ3
    • Mor-Cohen R, Rosenberg N, Landau M, Lahav J, Seligsohn U. Specific cysteines in β3 are involved in disulfide bond exchange-dependent and -independent activation of αIIbβ3. J Biol Chem 2008; 283: 19235-44.
    • (2008) J Biol Chem , vol.283 , pp. 19235-19244
    • Mor-Cohen, R.1    Rosenberg, N.2    Landau, M.3    Lahav, J.4    Seligsohn, U.5
  • 19
    • 84862867715 scopus 로고    scopus 로고
    • Macrothrombocytopenias caused by mutations in the genes encoding the αIIbβ3 integrin
    • Nurden AT, Pillois XA, Fiore M, Heilig R, Nurden P. Macrothrombocytopenias caused by mutations in the genes encoding the αIIbβ3 integrin. Semin Thromb Haemost 2011; 37: 696-706.
    • (2011) Semin Thromb Haemost , vol.37 , pp. 696-706
    • Nurden, A.T.1    Pillois, X.A.2    Fiore, M.3    Heilig, R.4    Nurden, P.5
  • 21
    • 78650172970 scopus 로고    scopus 로고
    • Calcium-dependent phospholipid scrambling by TMEM16F
    • Suzuki J, Umeda M, Sims PJ, Nagata S. Calcium-dependent phospholipid scrambling by TMEM16F. Nature 2010; 468: 834-8.
    • (2010) Nature , vol.468 , pp. 834-838
    • Suzuki, J.1    Umeda, M.2    Sims, P.J.3    Nagata, S.4
  • 23
    • 77951044354 scopus 로고    scopus 로고
    • RUNX1/core binding factor A2 regulates platelet 12-lipoxygenase gene (ALOX12): studies in human RUNX1 haplodeficiency
    • Kaur G, Jalagadugula G, Mao G, Rao AK. RUNX1/core binding factor A2 regulates platelet 12-lipoxygenase gene (ALOX12): studies in human RUNX1 haplodeficiency. Blood 2010; 115: 3128-35.
    • (2010) Blood , vol.115 , pp. 3128-3135
    • Kaur, G.1    Jalagadugula, G.2    Mao, G.3    Rao, A.K.4
  • 24
    • 79959848995 scopus 로고    scopus 로고
    • Recent advances in the understanding and management of MYH9-inherited thrombocytopenia
    • Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-inherited thrombocytopenia. Br J Haematol 2011; 154: 161-74.
    • (2011) Br J Haematol , vol.154 , pp. 161-174
    • Balduini, C.L.1    Pecci, A.2    Savoia, A.3
  • 25
    • 82155184530 scopus 로고    scopus 로고
    • Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome
    • Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, et al. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood 2011; 118: 5928-37.
    • (2011) Blood , vol.118 , pp. 5928-5937
    • Nurden, P.1    Debili, N.2    Coupry, I.3    Bryckaert, M.4    Youlyouz-Marfak, I.5    Solé, G.6    Pons, A.C.7
  • 26
    • 79959279291 scopus 로고    scopus 로고
    • Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
    • Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011; 117: 6673-80.
    • (2011) Blood , vol.117 , pp. 6673-6680
    • Noris, P.1    Perrotta, S.2    Seri, M.3    Pecci, A.4    Gnan, C.5    Loffredo, G.6    Pujol-Moix, N.7
  • 27
    • 84860227260 scopus 로고    scopus 로고
    • Mean platelet volume: comparison of three analysers towards standardization of platelet morphological phenotype
    • Latger-Cannard V, Hoaru M, Salignac S, Baumgart D, Nurden P, Lecompte T. Mean platelet volume: comparison of three analysers towards standardization of platelet morphological phenotype. Int J Lab Hematol 2012; 34: 300-10.
    • (2012) Int J Lab Hematol , vol.34 , pp. 300-310
    • Latger-Cannard, V.1    Hoaru, M.2    Salignac, S.3    Baumgart, D.4    Nurden, P.5    Lecompte, T.6
  • 29
    • 84863011162 scopus 로고    scopus 로고
    • Megakaryocyte-specific RhoA deficiency causes macrothrombocytopenia and defective platelet activation in hemostasis and thrombosis
    • Peines I, Hagedorn I, Gupta S, May F, Chakarova L, van Hangel J, Offermanns S, et al. Megakaryocyte-specific RhoA deficiency causes macrothrombocytopenia and defective platelet activation in hemostasis and thrombosis. Blood 2012; 119: 1054-63.
    • (2012) Blood , vol.119 , pp. 1054-1063
    • Peines, I.1    Hagedorn, I.2    Gupta, S.3    May, F.4    Chakarova, L.5    van Hangel, J.6    Offermanns, S.7
  • 30
    • 35648954087 scopus 로고    scopus 로고
    • What's new in using platelet research? To unravel thrombopathies and other human disorders
    • Freson K, Labarque V, Thys C, Wittevrongel C, Van Geet C. What's new in using platelet research? To unravel thrombopathies and other human disorders. Eur J Pediatr 2007; 166: 1203-10.
    • (2007) Eur J Pediatr , vol.166 , pp. 1203-1210
    • Freson, K.1    Labarque, V.2    Thys, C.3    Wittevrongel, C.4    Van Geet, C.5
  • 31
    • 77958522328 scopus 로고    scopus 로고
    • Clinical proteomics in platelet research: challenges ahead
    • García A. Clinical proteomics in platelet research: challenges ahead. J Thromb Haemost 2010; 8: 1784-5.
    • (2010) J Thromb Haemost , vol.8 , pp. 1784-1785
    • García, A.1
  • 32
    • 67849089161 scopus 로고    scopus 로고
    • A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways
    • Jones CI, Bray S, Garner SF, Stephens J, de Bono B, Angenent WG, Bentley D, et al. A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways. Blood 2009; 114: 1405-16.
    • (2009) Blood , vol.114 , pp. 1405-1416
    • Jones, C.I.1    Bray, S.2    Garner, S.F.3    Stephens, J.4    de Bono, B.5    Angenent, W.G.6    Bentley, D.7
  • 34
    • 84857789995 scopus 로고    scopus 로고
    • From genetics to epigenetics in platelet research
    • Freson K, Izzi B, Van Geet C. From genetics to epigenetics in platelet research. Thromb Res 2012; 129: 325-9.
    • (2012) Thromb Res , vol.129 , pp. 325-329
    • Freson, K.1    Izzi, B.2    Van Geet, C.3
  • 35
    • 77952540353 scopus 로고    scopus 로고
    • SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles
    • Castermans D, Volders K, Crepel A, Backx L, De Vos R, Freson K, Meulemans S, et al. SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Hum Mol Genet 2010; 19: 1368-78.
    • (2010) Hum Mol Genet , vol.19 , pp. 1368-1378
    • Castermans, D.1    Volders, K.2    Crepel, A.3    Backx, L.4    De Vos, R.5    Freson, K.6    Meulemans, S.7
  • 36
    • 79955056302 scopus 로고    scopus 로고
    • Medical DNA sequencing
    • Marian AJ. Medical DNA sequencing. Curr Opin Cardiol 2011; 26: 175-80.
    • (2011) Curr Opin Cardiol , vol.26 , pp. 175-180
    • Marian, A.J.1
  • 37
    • 80052009471 scopus 로고    scopus 로고
    • A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia
    • Siddiq S, Clark A, Mumford A. A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia. Haemophilia 2011; 17: e858-69.
    • (2011) Haemophilia , vol.17
    • Siddiq, S.1    Clark, A.2    Mumford, A.3
  • 39
    • 84860318053 scopus 로고    scopus 로고
    • A natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients
    • Fiore M, Firah N, Pillois X, Nurden P, Heilig R, Nurden A. A natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients. Haemophilia 2012; 18: e201-9.
    • (2012) Haemophilia , vol.18
    • Fiore, M.1    Firah, N.2    Pillois, X.3    Nurden, P.4    Heilig, R.5    Nurden, A.6
  • 40
    • 0036856212 scopus 로고    scopus 로고
    • Desmopressin in the treatment of patients with defects of platelet function
    • Cattaneo M. Desmopressin in the treatment of patients with defects of platelet function. Haematologica 2002; 87: 1122-4.
    • (2002) Haematologica , vol.87 , pp. 1122-1124
    • Cattaneo, M.1
  • 41
    • 37549058047 scopus 로고    scopus 로고
    • Desmopressin in inherited disorders of platelet function
    • Coppola A, Di Minno G. Desmopressin in inherited disorders of platelet function. Haemophilia 2008; 14(Suppl 1): 31-9.
    • (2008) Haemophilia , vol.14 , Issue.SUPPL 1 , pp. 31-39
    • Coppola, A.1    Di Minno, G.2
  • 42
    • 19944431107 scopus 로고    scopus 로고
    • Prophylactic and therapeutic recombinant factor VIIa administration to patients with Glanzmann's thrombasthenia: results of an international survey
    • Poon MC, D'Oiron R, Von Depka M, et al. Prophylactic and therapeutic recombinant factor VIIa administration to patients with Glanzmann's thrombasthenia: results of an international survey. J Thromb Haemost 2004; 2: 1096-103.
    • (2004) J Thromb Haemost , vol.2 , pp. 1096-1103
    • Poon, M.C.1    D'Oiron, R.2    Von Depka, M.3
  • 43
    • 34250193640 scopus 로고    scopus 로고
    • The evidence for the use of recombinant human activated factor VII in the treatment of bleeding patients with quantitative and qualitative platelet disorders
    • Poon MC. The evidence for the use of recombinant human activated factor VII in the treatment of bleeding patients with quantitative and qualitative platelet disorders. Transfus Med Rev 2007; 21: 223-36.
    • (2007) Transfus Med Rev , vol.21 , pp. 223-236
    • Poon, M.C.1
  • 44
    • 0030695063 scopus 로고    scopus 로고
    • Platelet activity of high-dose factor VIIa is independent of tissue factor
    • Monroe DM, Hoffman M, Oliver JA, Roberts HR. Platelet activity of high-dose factor VIIa is independent of tissue factor. Br J Haematol 1997; 99: 542-7.
    • (1997) Br J Haematol , vol.99 , pp. 542-547
    • Monroe, D.M.1    Hoffman, M.2    Oliver, J.A.3    Roberts, H.R.4
  • 45
    • 0037372315 scopus 로고    scopus 로고
    • Recombinant factor VIIa enhances deposition of platelets with congenital or acquired αIIbβ3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor-independent thrombin generation
    • Lisman T, Moschatsis S, Adelmeijer J, Nieuwenhuis HK, De Groot PG. Recombinant factor VIIa enhances deposition of platelets with congenital or acquired αIIbβ3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor-independent thrombin generation. Blood 2003; 101: 1864-70.
    • (2003) Blood , vol.101 , pp. 1864-1870
    • Lisman, T.1    Moschatsis, S.2    Adelmeijer, J.3    Nieuwenhuis, H.K.4    De Groot, P.G.5
  • 46
    • 1442308083 scopus 로고    scopus 로고
    • Recombinant factor VIIa restores aggregation of αIIbβ3-deficient platelets via tissue factor-independent fibrin generation
    • Lisman T, Adelmeijer J, Heijnen HF, de Groot PG. Recombinant factor VIIa restores aggregation of αIIbβ3-deficient platelets via tissue factor-independent fibrin generation. Blood 2004; 103: 1720-7.
    • (2004) Blood , vol.103 , pp. 1720-1727
    • Lisman, T.1    Adelmeijer, J.2    Heijnen, H.F.3    de Groot, P.G.4
  • 47
    • 77952703684 scopus 로고    scopus 로고
    • Modern management of severe platelet function disorders
    • Alamelu J, Liesner R. Modern management of severe platelet function disorders. Br J Haematol 2010; 149: 813-23.
    • (2010) Br J Haematol , vol.149 , pp. 813-823
    • Alamelu, J.1    Liesner, R.2


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