메뉴 건너뛰기




Volumn 16, Issue 1, 2004, Pages 15-22

Inherited thrombocytopenias: Toward a molecular understanding of disorders of platelet production

Author keywords

Congenital; Hematopoiesis; Platelet; Thrombocytopenia

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; HUMAN; MAY HEGGLIN ANOMALY; MEGAKARYOCYTE; MOLECULAR DYNAMICS; PRIORITY JOURNAL; REVIEW; SYNOSTOSIS; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; WISKOTT ALDRICH SYNDROME;

EID: 0842330260     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200402000-00005     Document Type: Review
Times cited : (62)

References (155)
  • 1
    • 0016862422 scopus 로고
    • Specific roles for platelet surface glycoproteins in platelet function
    • Nurden AT, Caen JP: Specific roles for platelet surface glycoproteins in platelet function. Nature 1975, 255:720-722.
    • (1975) Nature , vol.255 , pp. 720-722
    • Nurden, A.T.1    Caen, J.P.2
  • 2
    • 0028467947 scopus 로고
    • Development of hematopoietic stem cell activity in the mouse embryo
    • Muller AM, Medvinsky A, Strouboulis J, et al.: Development of hematopoietic stem cell activity in the mouse embryo. Immunity 1994, 1:291-301.
    • (1994) Immunity , vol.1 , pp. 291-301
    • Muller, A.M.1    Medvinsky, A.2    Strouboulis, J.3
  • 3
    • 0028842147 scopus 로고
    • Emergence of multipotent hemopoietic cells in the yolk sac and paraaortic splanchnopleura in mouse embryos, beginning at 8.5 days postcoitus
    • Godin I, Dieterlen-Lievre F, Cumano A: Emergence of multipotent hemopoietic cells in the yolk sac and paraaortic splanchnopleura in mouse embryos, beginning at 8.5 days postcoitus. Proc Natl Acad Sci USA 1995, 92:773-777.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 773-777
    • Godin, I.1    Dieterlen-Lievre, F.2    Cumano, A.3
  • 4
    • 0028343099 scopus 로고
    • Identification and cloning of a megakaryocyte growth and development factor that is a ligand for the cytokine receptor Mpl
    • Bartley TD, Bogenberger J, Hunt P, et al.: Identification and cloning of a megakaryocyte growth and development factor that is a ligand for the cytokine receptor Mpl. Cell 1994, 77:1117-1124.
    • (1994) Cell , vol.77 , pp. 1117-1124
    • Bartley, T.D.1    Bogenberger, J.2    Hunt, P.3
  • 5
    • 0028302409 scopus 로고
    • Stimulation of megakaryocytopoiesis and thrombopoiesis by the c-Mpl ligand
    • de Sauvage FJ, Hass PE, Spencer SD, et al.: Stimulation of megakaryocytopoiesis and thrombopoiesis by the c-Mpl ligand. Nature 1994, 369:533-538.
    • (1994) Nature , vol.369 , pp. 533-538
    • De Sauvage, F.J.1    Hass, P.E.2    Spencer, S.D.3
  • 6
    • 0028109434 scopus 로고
    • The structure, biology and potential therapeutic applications of recombinant thrombopoietin
    • Lok S, Foster DC: The structure, biology and potential therapeutic applications of recombinant thrombopoietin. Stem Cells 1994, 12:586-598.
    • (1994) Stem Cells , vol.12 , pp. 586-598
    • Lok, S.1    Foster, D.C.2
  • 7
    • 0028199208 scopus 로고
    • Cloning and expression of murine thrombopoietin cDNA and stimulation of platelet production in vivo
    • Lok S, Kaushansky K, Holly RD, et al.: Cloning and expression of murine thrombopoietin cDNA and stimulation of platelet production in vivo. Nature 1994, 369:565-568.
    • (1994) Nature , vol.369 , pp. 565-568
    • Lok, S.1    Kaushansky, K.2    Holly, R.D.3
  • 8
    • 0027992924 scopus 로고
    • Molecular cloning and chromosomal localization of the human thrombopoietin gene
    • Sohma Y, Akahori H, Seki N, et al.: Molecular cloning and chromosomal localization of the human thrombopoietin gene. FEBS Lett 1994, 353:57-61.
    • (1994) FEBS Lett , vol.353 , pp. 57-61
    • Sohma, Y.1    Akahori, H.2    Seki, N.3
  • 9
    • 0030014681 scopus 로고    scopus 로고
    • The effect of thrombopoietin on the proliferation and differentiation of murine hematopoietic stem cells
    • Sitnicka E, Lin N, Priestley GV, et al.: The effect of thrombopoietin on the proliferation and differentiation of murine hematopoietic stem cells. Blood 1996, 87:4998-5005.
    • (1996) Blood , vol.87 , pp. 4998-5005
    • Sitnicka, E.1    Lin, N.2    Priestley, G.V.3
  • 10
    • 85047696981 scopus 로고    scopus 로고
    • Mpl and the hematopoietic stem cell
    • Kaushansky K: Mpl and the hematopoietic stem cell. Leukemia 2002, 16:738-739.
    • (2002) Leukemia , vol.16 , pp. 738-739
    • Kaushansky, K.1
  • 11
    • 0032126638 scopus 로고    scopus 로고
    • Role of c-mpl in early hematopoiesis
    • Solar GP, Kerr WG, Zeigler FC, et al.: Role of c-mpl in early hematopoiesis. Blood 1998, 92:4-10.
    • (1998) Blood , vol.92 , pp. 4-10
    • Solar, G.P.1    Kerr, W.G.2    Zeigler, F.C.3
  • 12
    • 0035986783 scopus 로고    scopus 로고
    • Inherited thrombocytopenias: From genes to therapy
    • Balduini CL, Iolascon A, Savoia A: Inherited thrombocytopenias: from genes to therapy. Haematologica 2002, 87:860-880. An excellent review including a discussion of new treatment options for inherited thrombocytopenias.
    • (2002) Haematologica , vol.87 , pp. 860-880
    • Balduini, C.L.1    Iolascon, A.2    Savoia, A.3
  • 13
    • 19044370248 scopus 로고    scopus 로고
    • Treatment of bleeding in patients with platelet disorders: Is there a place for recombinant factor VIIa?
    • Laurian Y: Treatment of bleeding in patients with platelet disorders: is there a place for recombinant factor VIIa? Pathophysiol Haemost Thromb 2002, 32(Suppl 1):37-40.
    • (2002) Pathophysiol Haemost Thromb , vol.32 , Issue.1 SUPPL. , pp. 37-40
    • Laurian, Y.1
  • 15
    • 0033994422 scopus 로고    scopus 로고
    • Inherited giant platelet disorders. Classification and literature review
    • Mhawech P, Saleem A: Inherited giant platelet disorders. Classification and literature review. Am J Clin Pathol 2000, 113:176-190.
    • (2000) Am J Clin Pathol , vol.113 , pp. 176-190
    • Mhawech, P.1    Saleem, A.2
  • 16
    • 0011416218 scopus 로고    scopus 로고
    • CAMT: New findings and new questions
    • Kaushansky K: CAMT: new findings and new questions. Blood 2001, 97:1-2.
    • (2001) Blood , vol.97 , pp. 1-2
    • Kaushansky, K.1
  • 17
    • 0038129842 scopus 로고    scopus 로고
    • Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: Development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia
    • Ballmaier M, Germeshausen M, Krukemeier S, Weite K: Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. Ann N Y Acad Sci 2003, 996:17-25. Summarizes data regarding the role of TPO in maintaining the HSC compartment in both human CAMT and murine C-Mpl knockout models.
    • (2003) Ann N Y Acad Sci , vol.996 , pp. 17-25
    • Ballmaier, M.1    Germeshausen, M.2    Krukemeier, S.3    Weite, K.4
  • 18
    • 10544241190 scopus 로고    scopus 로고
    • Serum thrombopoietin (TPO) levels in patients with amegakaryocytic thrombocytopenia are much higher than those with immune thrombocytopenic purpura
    • Mukai HY, Kojima H, Todokoro K, et al.: Serum thrombopoietin (TPO) levels in patients with amegakaryocytic thrombocytopenia are much higher than those with immune thrombocytopenic purpura. Thromb Haemost 1996, 76:675-678.
    • (1996) Thromb Haemost , vol.76 , pp. 675-678
    • Mukai, H.Y.1    Kojima, H.2    Todokoro, K.3
  • 19
    • 0030950319 scopus 로고    scopus 로고
    • Serum thrombopoietin level is not regulated by transcription but by the total counts of both megakaryocytes and platelets during thrombocytopenia and thrombocytosis
    • Nagata Y, Shozaki Y, Nagahisa H, et al.: Serum thrombopoietin level is not regulated by transcription but by the total counts of both megakaryocytes and platelets during thrombocytopenia and thrombocytosis. Thromb Haemost 1997, 77:808-814.
    • (1997) Thromb Haemost , vol.77 , pp. 808-814
    • Nagata, Y.1    Shozaki, Y.2    Nagahisa, H.3
  • 20
    • 0033019932 scopus 로고    scopus 로고
    • Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
    • Ihara K, Ishii E, Eguchi M, et al.: Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci USA 1999, 96:3132-3136.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 3132-3136
    • Ihara, K.1    Ishii, E.2    Eguchi, M.3
  • 21
    • 0033781085 scopus 로고    scopus 로고
    • Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)
    • Tonelli R, Scardovi AL, Pession A, et al.: Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). Hum Genet 2000, 107:225-233.
    • (2000) Hum Genet , vol.107 , pp. 225-233
    • Tonelli, R.1    Scardovi, A.L.2    Pession, A.3
  • 22
    • 0033845012 scopus 로고    scopus 로고
    • Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia
    • van den Oudenrijn S, Bruin M, Folman CC, et al.: Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. Br J Haematol 2000, 110:441-448.
    • (2000) Br J Haematol , vol.110 , pp. 441-448
    • Van Den Oudenrijn, S.1    Bruin, M.2    Folman, C.C.3
  • 23
    • 0035174334 scopus 로고    scopus 로고
    • c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia
    • Ballmaier M, Germeshausen M, Schulze H, et al.: c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood 2001, 97:139-146.
    • (2001) Blood , vol.97 , pp. 139-146
    • Ballmaier, M.1    Germeshausen, M.2    Schulze, H.3
  • 24
    • 0030307545 scopus 로고    scopus 로고
    • Studies of the c-Mpl thrombopoietin receptor through gene disruption and activation
    • Alexander WS, Roberts AW, Maurer AB, et al.: Studies of the c-Mpl thrombopoietin receptor through gene disruption and activation. Stem Cells 1996, 14(Suppl 1):124-132.
    • (1996) Stem Cells , vol.14 , Issue.1 SUPPL. , pp. 124-132
    • Alexander, W.S.1    Roberts, A.W.2    Maurer, A.B.3
  • 25
    • 0029684417 scopus 로고    scopus 로고
    • Low levels of erythroid and myeloid progenitors in thrombopoietin-and c-mpl-deficient mice
    • Carver-Moore K, Broxmeyer HE, Luoh SM, et al.: Low levels of erythroid and myeloid progenitors in thrombopoietin-and c-mpl-deficient mice. Blood 1996, 88:803-808.
    • (1996) Blood , vol.88 , pp. 803-808
    • Carver-Moore, K.1    Broxmeyer, H.E.2    Luoh, S.M.3
  • 26
    • 0032477741 scopus 로고    scopus 로고
    • Hematopoietic stem cell deficiencies in mice lacking c-Mpl, the receptor for thrombopoietin
    • Kimura S, Roberts AW, Metcalf D, Alexander WS: Hematopoietic stem cell deficiencies in mice lacking c-Mpl, the receptor for thrombopoietin. Proc Natl Acad Sci USA 1998, 95:1195-1200.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1195-1200
    • Kimura, S.1    Roberts, A.W.2    Metcalf, D.3    Alexander, W.S.4
  • 27
    • 0031910136 scopus 로고    scopus 로고
    • Hematopoietic deficiencies in c-mpl and TPO knockout mice
    • Murone M, Carpenter DA, de Sauvage FJ: Hematopoietic deficiencies in c-mpl and TPO knockout mice. Stem Cells 1998, 16:1-6.
    • (1998) Stem Cells , vol.16 , pp. 1-6
    • Murone, M.1    Carpenter, D.A.2    De Sauvage, F.J.3
  • 28
    • 0030307599 scopus 로고    scopus 로고
    • Dissection of c-Mpl and thrombopoietin function: Studies of knockout mice and receptor signal transduction
    • Gurney AL, de Sauvage FJ: Dissection of c-Mpl and thrombopoietin function: studies of knockout mice and receptor signal transduction. Stem Cells 1996, 14(Suppl 1):116-123.
    • (1996) Stem Cells , vol.14 , Issue.1 SUPPL. , pp. 116-123
    • Gurney, A.L.1    De Sauvage, F.J.2
  • 29
    • 0033662329 scopus 로고    scopus 로고
    • Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation
    • Thompson AA, Nguyen LT: Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet 2000, 26:397-398.
    • (2000) Nat Genet , vol.26 , pp. 397-398
    • Thompson, A.A.1    Nguyen, L.T.2
  • 30
    • 0034936465 scopus 로고    scopus 로고
    • Congenital thrombocytopenia and radio-ulnar synostosis: A new familial syndrome
    • Thompson AA, Woodruff K, Feig SA, et al.: Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome. Br J Haematol 2001, 113:866-870.
    • (2001) Br J Haematol , vol.113 , pp. 866-870
    • Thompson, A.A.1    Woodruff, K.2    Feig, S.A.3
  • 31
    • 0029954818 scopus 로고    scopus 로고
    • The role of HOX homeobox genes in normal and leukemic hematopoiesis
    • Lawrence HJ, Sauvageau G, Humphries RK, Largman C: The role of HOX homeobox genes in normal and leukemic hematopoiesis. Stem Cells 1996, 14:281-291.
    • (1996) Stem Cells , vol.14 , pp. 281-291
    • Lawrence, H.J.1    Sauvageau, G.2    Humphries, R.K.3    Largman, C.4
  • 32
    • 0030729371 scopus 로고    scopus 로고
    • Effects of HOX homeobox genes in blood cell differentiation
    • Magli MC, Largman C, Lawrence HJ: Effects of HOX homeobox genes in blood cell differentiation. J Cell Physiol 1997, 173:168-177.
    • (1997) J Cell Physiol , vol.173 , pp. 168-177
    • Magli, M.C.1    Largman, C.2    Lawrence, H.J.3
  • 35
    • 0035761453 scopus 로고    scopus 로고
    • Proliferation of primitive myeloid progenitors can be reversibly induced by HOXA10
    • Bjornsson JM, Andersson E, Lundstrom P, et al: Proliferation of primitive myeloid progenitors can be reversibly induced by HOXA10. Blood 2001, 98:3301-3308.
    • (2001) Blood , vol.98 , pp. 3301-3308
    • Bjornsson, J.M.1    Andersson, E.2    Lundstrom, P.3
  • 36
    • 0034892945 scopus 로고    scopus 로고
    • HOXB4 overexpression mediates very rapid stem cell regeneration and competitive hematopoietic repopulation
    • Antonchuk J, Sauvageau G, Humphries RK: HOXB4 overexpression mediates very rapid stem cell regeneration and competitive hematopoietic repopulation. Exp Hematol 2001, 29:1125-1134.
    • (2001) Exp Hematol , vol.29 , pp. 1125-1134
    • Antonchuk, J.1    Sauvageau, G.2    Humphries, R.K.3
  • 37
    • 0031031880 scopus 로고    scopus 로고
    • Overexpression of HOXA10 in murine hematopoietic cells perturbs both myeloid and lymphoid differentiation and leads to acute myeloid leukemia
    • Thorsteinsdottir U, Sauvageau G, Hough MR, et al.: Overexpression of HOXA10 in murine hematopoietic cells perturbs both myeloid and lymphoid differentiation and leads to acute myeloid leukemia. Mol Cell Biol 1997, 17:495-505.
    • (1997) Mol Cell Biol , vol.17 , pp. 495-505
    • Thorsteinsdottir, U.1    Sauvageau, G.2    Hough, M.R.3
  • 38
    • 0036385417 scopus 로고    scopus 로고
    • Duplication of the Hoxd11 gene causes alterations in the axial and appendicular skeleton of the mouse
    • Boulet AM, Capecchi MR: Duplication of the Hoxd11 gene causes alterations in the axial and appendicular skeleton of the mouse. Dev Biol 2002, 249:96-107.
    • (2002) Dev Biol , vol.249 , pp. 96-107
    • Boulet, A.M.1    Capecchi, M.R.2
  • 39
    • 0032830638 scopus 로고    scopus 로고
    • Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
    • Song WJ, Sullivan MG, Legare RD, et al.: Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999, 23:166-175.
    • (1999) Nat Genet , vol.23 , pp. 166-175
    • Song, W.J.1    Sullivan, M.G.2    Legare, R.D.3
  • 40
    • 0037082499 scopus 로고    scopus 로고
    • In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: Implications for mechanisms of pathogenesis
    • Michaud J, Wu F, Osato M, et al.: In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002, 99:1364-1372.
    • (2002) Blood , vol.99 , pp. 1364-1372
    • Michaud, J.1    Wu, F.2    Osato, M.3
  • 41
    • 0030588487 scopus 로고    scopus 로고
    • The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo
    • Wang Q, Stacy T, Miller JD, et al.: The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo. Cell 1996, 87:697-708.
    • (1996) Cell , vol.87 , pp. 697-708
    • Wang, Q.1    Stacy, T.2    Miller, J.D.3
  • 42
    • 0030061554 scopus 로고    scopus 로고
    • AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis
    • Okuda T, van Deursen J, Hiebert SW, et al.: AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 1996, 84:321-330.
    • (1996) Cell , vol.84 , pp. 321-330
    • Okuda, T.1    Van Deursen, J.2    Hiebert, S.W.3
  • 43
    • 0031025416 scopus 로고    scopus 로고
    • Embryonic lethality and impairment of haematopoiesis in mice heterozygous for an AML1-ETO fusion gene
    • Yergeau DA, Hetherington CJ, Wang Q, et al.: Embryonic lethality and impairment of haematopoiesis in mice heterozygous for an AML1-ETO fusion gene. Nat Genet 1997, 15:303-306. Mice heterozygous for and Runx-1-Eto allele were generated as a model of human t(8;21) leukemia, demonstrating the effect of this fusion protein on blocking normal Runx-1 function.
    • (1997) Nat Genet , vol.15 , pp. 303-306
    • Yergeau, D.A.1    Hetherington, C.J.2    Wang, Q.3
  • 44
    • 0029918597 scopus 로고    scopus 로고
    • Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis
    • Wang Q, Stacy T, Binder M, et al.: Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc Natl Acad Sci U S A 1996, 93:3444-3449.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 3444-3449
    • Wang, Q.1    Stacy, T.2    Binder, M.3
  • 45
    • 0028925282 scopus 로고
    • The t(8;21) fusion protein interferes with AML-1B-dependent transcriptional activation
    • Meyers S, Lenny N, Hiebert SW: The t(8;21) fusion protein interferes with AML-1B-dependent transcriptional activation. Mol Cell Biol 1995, 15:1974-1982.
    • (1995) Mol Cell Biol , vol.15 , pp. 1974-1982
    • Meyers, S.1    Lenny, N.2    Hiebert, S.W.3
  • 46
    • 0037309377 scopus 로고    scopus 로고
    • The core-binding factor leukemias: Lessons learned from murine models
    • Downing JR: The core-binding factor leukemias: lessons learned from murine models. Curr Opin Genet Dev 2003, 13:48-54.
    • (2003) Curr Opin Genet Dev , vol.13 , pp. 48-54
    • Downing, J.R.1
  • 47
    • 0037438515 scopus 로고    scopus 로고
    • The AML1-ETO fusion gene promotes extensive self-renewal of human primary erythroid cells
    • Tonks A, Pearn L, Tonks AJ, et al.: The AML1-ETO fusion gene promotes extensive self-renewal of human primary erythroid cells. Blood 2003, 101:624-632.
    • (2003) Blood , vol.101 , pp. 624-632
    • Tonks, A.1    Pearn, L.2    Tonks, A.J.3
  • 48
    • 0036317908 scopus 로고    scopus 로고
    • Hematopoietic stem cell expansion and distinct myeloid developmental abnormalities in a murine model of the AML1-ETO translocation
    • de Guzman CG, Warren AJ, Zhang Z, et al.: Hematopoietic stem cell expansion and distinct myeloid developmental abnormalities in a murine model of the AML1-ETO translocation. Mol Cell Biol 2002, 22:5506-5517.
    • (2002) Mol Cell Biol , vol.22 , pp. 5506-5517
    • De Guzman, C.G.1    Warren, A.J.2    Zhang, Z.3
  • 49
    • 0037092966 scopus 로고    scopus 로고
    • Cooperative function of Aml1-ETO core-pressor recruitment domains in the expansion of primary bone marrow cells
    • Hug BA, Lee SY, Kinsler EL, et al.: Cooperative function of Aml1-ETO core-pressor recruitment domains in the expansion of primary bone marrow cells. Cancer Res 2002, 62:2906-2912.
    • (2002) Cancer Res , vol.62 , pp. 2906-2912
    • Hug, B.A.1    Lee, S.Y.2    Kinsler, E.L.3
  • 50
    • 0036095217 scopus 로고    scopus 로고
    • The AML1-ETO fusion protein promotes the expansion of human hematopoietic stem cells
    • Mulloy JC, Cammenga J, MacKenzie KL, et al.: The AML1-ETO fusion protein promotes the expansion of human hematopoietic stem cells. Blood 2002, 99:15-23. Retroviral transduction is used to show that introduction of Runx-1 -Eto into human HSCs significantly enhanced HSC expansion at the expense of lineage commitment.
    • (2002) Blood , vol.99 , pp. 15-23
    • Mulloy, J.C.1    Cammenga, J.2    MacKenzie, K.L.3
  • 51
    • 0032079424 scopus 로고    scopus 로고
    • Expression of a knocked-in AML1-ETO leukemia gene inhibits the establishment of normal definitive hematopoiesis and directly generates dysplastic hematopoietic progenitors
    • Okuda T, Cai Z, Yang S, et al.: Expression of a knocked-in AML1-ETO leukemia gene inhibits the establishment of normal definitive hematopoiesis and directly generates dysplastic hematopoietic progenitors. Blood 1998, 91:3134-3143.
    • (1998) Blood , vol.91 , pp. 3134-3143
    • Okuda, T.1    Cai, Z.2    Yang, S.3
  • 52
    • 0034665765 scopus 로고    scopus 로고
    • Analysis of the role of AML1-ETO in leukemogenesis, using an inducible transgenic mouse model
    • Rhoades KL, Hetherington CJ, Harakawa N, et al.: Analysis of the role of AML1-ETO in leukemogenesis, using an inducible transgenic mouse model. Blood 2000, 96:2108-2115.
    • (2000) Blood , vol.96 , pp. 2108-2115
    • Rhoades, K.L.1    Hetherington, C.J.2    Harakawa, N.3
  • 53
    • 0038819114 scopus 로고    scopus 로고
    • RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation
    • Elagib KE, Racke FK, Mogass M, et al.: RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation. Blood 2003, 101:4333-4341. This work demonstrates an interaction between Gata-1 and Runx-1, a potential basis for the megakaryocytic phenotype seen in FPS/AML and in the transient abnormal myelopoiesis in Down syndrome.
    • (2003) Blood , vol.101 , pp. 4333-4341
    • Elagib, K.E.1    Racke, F.K.2    Mogass, M.3
  • 54
    • 0032509511 scopus 로고    scopus 로고
    • Key residues characteristic of GATA N-fingers are recognized by FOG
    • Fox AH, Kowalski K, King GF, et al.: Key residues characteristic of GATA N-fingers are recognized by FOG. J Biol Chem 1998, 273:33595-33603.
    • (1998) J Biol Chem , vol.273 , pp. 33595-33603
    • Fox, A.H.1    Kowalski, K.2    King, G.F.3
  • 55
    • 0031472234 scopus 로고    scopus 로고
    • FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation
    • Tsang AP, Visvader JE, Turner CA, et al.: FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. Cell 1997, 90:109-119.
    • (1997) Cell , vol.90 , pp. 109-119
    • Tsang, A.P.1    Visvader, J.E.2    Turner, C.A.3
  • 56
    • 0028894781 scopus 로고
    • The C-terminal zinc finger of GATA-1 or GATA-2 is sufficient to induce megakaryocytic differentiation of an early myeloid cell line
    • Visvader JE, Crossley M, Hill J, et al.: The C-terminal zinc finger of GATA-1 or GATA-2 is sufficient to induce megakaryocytic differentiation of an early myeloid cell line. Mol Cell Biol 1995, 15:634-641.
    • (1995) Mol Cell Biol , vol.15 , pp. 634-641
    • Visvader, J.E.1    Crossley, M.2    Hill, J.3
  • 57
    • 0027500843 scopus 로고
    • The two zinc finger-like domains of GATA-1 have different DNA binding specificities
    • Whyatt DJ, deBoer E, Grosveld F: The two zinc finger-like domains of GATA-1 have different DNA binding specificities. EMBO J 1993, 12:4993-5005.
    • (1993) EMBO J , vol.12 , pp. 4993-5005
    • Whyatt, D.J.1    DeBoer, E.2    Grosveld, F.3
  • 58
    • 0035412362 scopus 로고    scopus 로고
    • Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation
    • Freson K, Devriendt K, Matthijs G, et al.: Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood 2001, 98:85-92.
    • (2001) Blood , vol.98 , pp. 85-92
    • Freson, K.1    Devriendt, K.2    Matthijs, G.3
  • 59
    • 0037081819 scopus 로고    scopus 로고
    • Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation
    • Freson K, Matthijs G, Thys C, et al.: Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet 2002, 11:147-152.
    • (2002) Hum Mol Genet , vol.11 , pp. 147-152
    • Freson, K.1    Matthijs, G.2    Thys, C.3
  • 60
    • 0034052854 scopus 로고    scopus 로고
    • Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
    • Nichols KE, Crispino JD, Poncz M, et al.: Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000, 24:266-270.
    • (2000) Nat Genet , vol.24 , pp. 266-270
    • Nichols, K.E.1    Crispino, J.D.2    Poncz, M.3
  • 61
    • 0035525746 scopus 로고    scopus 로고
    • X-linked thrombocytopenia caused by a novel mutation of GATA-1
    • Mehaffey MG, Newton AL, Gandhi MJ, et al.: X-linked thrombocytopenia caused by a novel mutation of GATA-1. Blood 2001, 98:2681-2688.
    • (2001) Blood , vol.98 , pp. 2681-2688
    • Mehaffey, M.G.1    Newton, A.L.2    Gandhi, M.J.3
  • 62
    • 0037105495 scopus 로고    scopus 로고
    • X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction
    • Yu C, Niakan KK, Matsushita M, et al.: X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood 2002, 100:2040-2045.
    • (2002) Blood , vol.100 , pp. 2040-2045
    • Yu, C.1    Niakan, K.K.2    Matsushita, M.3
  • 63
    • 0031024994 scopus 로고    scopus 로고
    • Erythroid-cell-specific properties of transcription factor GATA-1 revealed by phenotypic rescue of a gene-targeted cell line
    • Weiss MJ, Yu C, Orkin SH: Erythroid-cell-specific properties of transcription factor GATA-1 revealed by phenotypic rescue of a gene-targeted cell line. Mol Cell Biol 1997, 17:1642-1651.
    • (1997) Mol Cell Biol , vol.17 , pp. 1642-1651
    • Weiss, M.J.1    Yu, C.2    Orkin, S.H.3
  • 64
    • 0030963918 scopus 로고    scopus 로고
    • A "knockdown" on created by cis-element gene targeting reveals the dependence of erythroid cell maturation on the level of transcription factor GATA-1
    • McDevitt MA, Shivdasani RA, Fujiwara Y, et al.: A "knockdown" on created by cis-element gene targeting reveals the dependence of erythroid cell maturation on the level of transcription factor GATA-1. Proc Natl Acad Sci U S A 1997, 94:6781-6785.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 6781-6785
    • McDevitt, M.A.1    Shivdasani, R.A.2    Fujiwara, Y.3
  • 65
    • 0029926485 scopus 로고    scopus 로고
    • Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1
    • Fujiwara Y, Browne CP, Cunniff K, et al.: Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proc Natl Acad Sci U S A 1996, 93:12355-12358.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 12355-12358
    • Fujiwara, Y.1    Browne, C.P.2    Cunniff, K.3
  • 66
    • 0036435483 scopus 로고    scopus 로고
    • Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage
    • Ohneda K, Yamamoto M: Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage. Acta Haematol 2002, 108:237-245.
    • (2002) Acta Haematol , vol.108 , pp. 237-245
    • Ohneda, K.1    Yamamoto, M.2
  • 67
    • 0030926006 scopus 로고    scopus 로고
    • A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development
    • Shivdasani RA, Fujiwara Y, McDevitt MA, Orkin SH: A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development. EMBO J 1997, 16:3965-3973.
    • (1997) EMBO J , vol.16 , pp. 3965-3973
    • Shivdasani, R.A.1    Fujiwara, Y.2    McDevitt, M.A.3    Orkin, S.H.4
  • 68
    • 0032522474 scopus 로고    scopus 로고
    • Failure of megakaryopoiesis and arrested erythropoiesis in mice lacking the GATA-1 transcriptional cofactor FOG
    • Tsang AP, Fujiwara Y, Hom DB, Orkin SH: Failure of megakaryopoiesis and arrested erythropoiesis in mice lacking the GATA-1 transcriptional cofactor FOG. Genes Dev 1998, 12:1176-1188.
    • (1998) Genes Dev , vol.12 , pp. 1176-1188
    • Tsang, A.P.1    Fujiwara, Y.2    Hom, D.B.3    Orkin, S.H.4
  • 69
    • 0026691333 scopus 로고
    • GATA-binding transcription factors in hematopoietic cells
    • Orkin SH: GATA-binding transcription factors in hematopoietic cells. Blood 1992, 80:575-581.
    • (1992) Blood , vol.80 , pp. 575-581
    • Orkin, S.H.1
  • 70
    • 0033134831 scopus 로고    scopus 로고
    • Consequences of GATA-1 deficiency in megakaryocytes and platelets
    • Vyas P, Ault K, Jackson CW, et al.: Consequences of GATA-1 deficiency in megakaryocytes and platelets. Blood 1999, 93:2867-2875.
    • (1999) Blood , vol.93 , pp. 2867-2875
    • Vyas, P.1    Ault, K.2    Jackson, C.W.3
  • 71
    • 0032227812 scopus 로고    scopus 로고
    • Transcription factor GATA-1 in megakaryocyte development
    • Orkin SH, Shivdasani RA, Fujiwara Y, McDevitt MA: Transcription factor GATA-1 in megakaryocyte development. Stem Cells 1998, 16(Suppl 2):79-83.
    • (1998) Stem Cells , vol.16 , Issue.2 SUPPL. , pp. 79-83
    • Orkin, S.H.1    Shivdasani, R.A.2    Fujiwara, Y.3    McDevitt, M.A.4
  • 72
    • 0028952956 scopus 로고
    • A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23
    • Breton-Gorius J, Favier R, Guichard J, et al.: A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Blood 1995, 85:1805-1814.
    • (1995) Blood , vol.85 , pp. 1805-1814
    • Breton-Gorius, J.1    Favier, R.2    Guichard, J.3
  • 73
    • 0027433157 scopus 로고
    • A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion at 11q23
    • Favier R, Douay L, Esteva B, et al.: A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23. C R Acad Sci III 1993, 316:698-701.
    • (1993) C R Acad Sci III , vol.316 , pp. 698-701
    • Favier, R.1    Douay, L.2    Esteva, B.3
  • 74
    • 0035091521 scopus 로고    scopus 로고
    • Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome
    • Krishnamurti L, Neglia JP, Nagarajan R, et al.: Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome. Am J Hematol 2001, 66:295-299.
    • (2001) Am J Hematol , vol.66 , pp. 295-299
    • Krishnamurti, L.1    Neglia, J.P.2    Nagarajan, R.3
  • 75
    • 0025138488 scopus 로고
    • Identification and mapping of a common proviral integration site Fli-1 in erythroleukemia cells induced by Friend murine leukemia virus
    • Ben-David Y, Giddens EB, Bernstein A: Identification and mapping of a common proviral integration site Fli-1 in erythroleukemia cells induced by Friend murine leukemia virus. Proc Natl Acad Sci USA 1990, 87:1332-1336.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 1332-1336
    • Ben-David, Y.1    Giddens, E.B.2    Bernstein, A.3
  • 76
    • 0025736350 scopus 로고
    • Erythroleukemia induction by Friend murine leukemia virus: Insertional activation of a new member of the ets gene family, Fli-1, closely linked to c-ets-1
    • Ben-David Y, Giddens EB, Letwin K, Bernstein A: Erythroleukemia induction by Friend murine leukemia virus: insertional activation of a new member of the ets gene family, Fli-1, closely linked to c-ets-1. Genes Dev 1991, 5:908-918.
    • (1991) Genes Dev , vol.5 , pp. 908-918
    • Ben-David, Y.1    Giddens, E.B.2    Letwin, K.3    Bernstein, A.4
  • 77
    • 0026729269 scopus 로고
    • Interaction of murine ets-1 with GGA-binding sites establishes the ETS domain as a new DNA-binding motif
    • Nye JA, Petersen JM, Gunther CV, et al.: Interaction of murine ets-1 with GGA-binding sites establishes the ETS domain as a new DNA-binding motif. Genes Dev 1992, 6:975-990.
    • (1992) Genes Dev , vol.6 , pp. 975-990
    • Nye, J.A.1    Petersen, J.M.2    Gunther, C.V.3
  • 78
    • 0029982649 scopus 로고    scopus 로고
    • Generation of a novel Fli-1 protein by gene targeting leads to a defect in thymus development and a delay in Friend virus-induced erythroleukemia
    • Melet F, Motro B, Rossi DJ, et al.: Generation of a novel Fli-1 protein by gene targeting leads to a defect in thymus development and a delay in Friend virus-induced erythroleukemia. Mol Cell Biol 1996, 16:2708-2718.
    • (1996) Mol Cell Biol , vol.16 , pp. 2708-2718
    • Melet, F.1    Motro, B.2    Rossi, D.J.3
  • 79
    • 0032401618 scopus 로고    scopus 로고
    • Both Ets-1 and GATA-1 are essential for positive regulation of platelet factor 4 gene expression
    • Minami T, Tachibana K, Imanishi T, Doi T: Both Ets-1 and GATA-1 are essential for positive regulation of platelet factor 4 gene expression. Eur J Biochem 1998, 258:879-889.
    • (1998) Eur J Biochem , vol.258 , pp. 879-889
    • Minami, T.1    Tachibana, K.2    Imanishi, T.3
  • 80
    • 0027300255 scopus 로고
    • The Fli-1 proto-oncogene, involved in erythroleukemia and Ewing's sarcoma, encodes a transcriptional activator with DNA-binding specificities distinct from other Ets family members
    • Zhang L, Lemarchandel V, Romeo PH, et al.: The Fli-1 proto-oncogene, involved in erythroleukemia and Ewing's sarcoma, encodes a transcriptional activator with DNA-binding specificities distinct from other Ets family members. Oncogene 1993, 8:1621-1630.
    • (1993) Oncogene , vol.8 , pp. 1621-1630
    • Zhang, L.1    Lemarchandel, V.2    Romeo, P.H.3
  • 81
    • 0029944191 scopus 로고    scopus 로고
    • Analysis of the thrombopoietin receptor (MPL) promoter implicates GATA and Ets proteins in the coregulation of megakaryocyte-specific genes
    • Deveaux S, Filipe A, Lemarchandel V, et al.: Analysis of the thrombopoietin receptor (MPL) promoter implicates GATA and Ets proteins in the coregulation of megakaryocyte-specific genes. Blood 1996, 87:4678-4685.
    • (1996) Blood , vol.87 , pp. 4678-4685
    • Deveaux, S.1    Filipe, A.2    Lemarchandel, V.3
  • 82
    • 0038642045 scopus 로고    scopus 로고
    • Protein-protein interaction between Fli-1 and GATA-1 mediates synergistic expression of megakaryocyte-specific genes through cooperative DNA binding
    • Eisbacher M, Holmes ML, Newton A, et al.: Protein-protein interaction between Fli-1 and GATA-1 mediates synergistic expression of megakaryocyte- specific genes through cooperative DNA binding. Mol Cell Biol 2003, 23:3427-3441. The interaction between Fli-1 and Gata-1 is mapped and demonstrated to confer synergistic activation of megakaryocytic promoters in an in vitro system.
    • (2003) Mol Cell Biol , vol.23 , pp. 3427-3441
    • Eisbacher, M.1    Holmes, M.L.2    Newton, A.3
  • 83
    • 0029910191 scopus 로고    scopus 로고
    • Increased expression of the ETS-related transcription factor FLI-1/ERGB correlates with and can induce the megakaryocytic phenotype
    • Athanasiou M, Clausen PA, Mavrothalassitis GJ, et al.: Increased expression of the ETS-related transcription factor FLI-1/ERGB correlates with and can induce the megakaryocytic phenotype. Cell Growth Differ 1996, 7:1525-1534.
    • (1996) Cell Growth Differ , vol.7 , pp. 1525-1534
    • Athanasiou, M.1    Clausen, P.A.2    Mavrothalassitis, G.J.3
  • 84
    • 0033714882 scopus 로고    scopus 로고
    • Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia
    • Hart A, Melet F, Grossfeld P, et al.: Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia. Immunity 2000, 13:167-177.
    • (2000) Immunity , vol.13 , pp. 167-177
    • Hart, A.1    Melet, F.2    Grossfeld, P.3
  • 85
    • 0028100843 scopus 로고
    • Retroviral integration within the Fli-2 locus results in inactivation of the erythroid transcription factor NF-E2 in Friend erythroleukemias: Evidence that NF-E2 is essential for globin expression
    • Lu SJ, Rowan S, Bani MR, Ben-David Y: Retroviral integration within the Fli-2 locus results in inactivation of the erythroid transcription factor NF-E2 in Friend erythroleukemias: evidence that NF-E2 is essential for globin expression. Proc Natl Acad Sci U S A 1994, 91:8398-8402.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 8398-8402
    • Lu, S.J.1    Rowan, S.2    Bani, M.R.3    Ben-David, Y.4
  • 86
    • 0027295567 scopus 로고
    • Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner
    • Ney PA, Andrews NC, Jane SM, et al.: Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner. Mol Cell Biol 1993, 13:5604-5612.
    • (1993) Mol Cell Biol , vol.13 , pp. 5604-5612
    • Ney, P.A.1    Andrews, N.C.2    Jane, S.M.3
  • 87
    • 0027243681 scopus 로고
    • Erythroid transcription factor NF-E2 is a haematopoietic-specific basic-leucine zipper protein
    • Andrews NC, Erdjument-Bromage H, Davidson MB, et al.: Erythroid transcription factor NF-E2 is a haematopoietic-specific basic-leucine zipper protein. Nature 1993, 362:722-728.
    • (1993) Nature , vol.362 , pp. 722-728
    • Andrews, N.C.1    Erdjument-Bromage, H.2    Davidson, M.B.3
  • 88
    • 0027145162 scopus 로고
    • The ubiquitous subunit of erythroid transcription factor NF-E2 is a small basic-leucine zipper protein related to the v-maf oncogene
    • Andrews NC, Kotkow KJ, Ney PA, et al.: The ubiquitous subunit of erythroid transcription factor NF-E2 is a small basic-leucine zipper protein related to the v-maf oncogene. Proc Natl Acad Sci USA 1993, 90:11488-11492.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 11488-11492
    • Andrews, N.C.1    Kotkow, K.J.2    Ney, P.A.3
  • 89
    • 0034663319 scopus 로고    scopus 로고
    • Hematopoietic-specific beta 1 tubulin participates in a pathway of platelet biogenesis dependent on the transcription factor NF-E2
    • Lecine P, Italiano JE Jr, Kim SW, et al.: Hematopoietic-specific beta 1 tubulin participates in a pathway of platelet biogenesis dependent on the transcription factor NF-E2. Blood 2000, 96:1366-1373.
    • (2000) Blood , vol.96 , pp. 1366-1373
    • Lecine, P.1    Italiano Jr., J.E.2    Kim, S.W.3
  • 90
    • 85117739084 scopus 로고    scopus 로고
    • A role for Rab27b in NF-E2-dependent pathways of platelet formation
    • in press
    • Tiwari S, Italiano JE, Barrai DC, et al.: A role for Rab27b in NF-E2-dependent pathways of platelet formation. Blood 2003, in press.
    • (2003) Blood
    • Tiwari, S.1    Italiano, J.E.2    Barrai, D.C.3
  • 91
    • 0030865547 scopus 로고    scopus 로고
    • p45 NF-E2 regulates expression of thromboxane synthase in megakaryocytes
    • Deveaux S, Cohen-Kaminsky S, Shivdasani RA, et al.: p45 NF-E2 regulates expression of thromboxane synthase in megakaryocytes. EMBO J 1997, 16:5654-5661.
    • (1997) EMBO J , vol.16 , pp. 5654-5661
    • Deveaux, S.1    Cohen-Kaminsky, S.2    Shivdasani, R.A.3
  • 92
    • 0033230336 scopus 로고    scopus 로고
    • Pathophysiology of thrombocytopenia and anemia in mice lacking transcription factor NF-E2
    • Levin J, Peng JP, Baker GR, et al.: Pathophysiology of thrombocytopenia and anemia in mice lacking transcription factor NF-E2. Blood 1999, 94:3037-3047.
    • (1999) Blood , vol.94 , pp. 3037-3047
    • Levin, J.1    Peng, J.P.2    Baker, G.R.3
  • 93
    • 0030307598 scopus 로고    scopus 로고
    • The role of transcription factor NF-E2 in megakaryocyte maturation and platelet production
    • Shivdasani RA: The role of transcription factor NF-E2 in megakaryocyte maturation and platelet production. Stem Cells 1996, 14:112-115.
    • (1996) Stem Cells , vol.14 , pp. 112-115
    • Shivdasani, R.A.1
  • 94
    • 0029050860 scopus 로고
    • Erythropoiesis and globin gene expression in mice lacking the transcription factor NF-E2
    • Shivdasani RA, Orkin SH: Erythropoiesis and globin gene expression in mice lacking the transcription factor NF-E2. Proc Natl Acad Sci U S A 1995, 92:8690-8694.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 8690-8694
    • Shivdasani, R.A.1    Orkin, S.H.2
  • 95
    • 0029051295 scopus 로고
    • Transcription factor NF-E2 is required for platelet formation independent of the actions of thrombopoietin/MGDF in megakaryocyte development
    • Shivdasani RA, Rosenblatt MF, Zucker-Franklin D, et al.: Transcription factor NF-E2 is required for platelet formation independent of the actions of thrombopoietin/MGDF in megakaryocyte development. Cell 1995, 81:695-704.
    • (1995) Cell , vol.81 , pp. 695-704
    • Shivdasani, R.A.1    Rosenblatt, M.F.2    Zucker-Franklin, D.3
  • 96
    • 0036916738 scopus 로고    scopus 로고
    • Thrombocytopenia-absent radius syndrome: A clinical genetic study
    • Greenhalgh KL, Howell RT, Bottani A, et al.: Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet 2002, 39:876-881.
    • (2002) J Med Genet , vol.39 , pp. 876-881
    • Greenhalgh, K.L.1    Howell, R.T.2    Bottani, A.3
  • 97
    • 17744405964 scopus 로고    scopus 로고
    • Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome
    • Letestu R, Vitrat N, Masse A, et al.: Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome. Blood 2000, 95:1633-1641.
    • (2000) Blood , vol.95 , pp. 1633-1641
    • Letestu, R.1    Vitrat, N.2    Masse, A.3
  • 98
    • 0030789326 scopus 로고    scopus 로고
    • Thrombopoietin in patients with congenital thrombocytopenia and absent radii: Elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin
    • Ballmaier M, Schulze H, Strauss G, et al.: Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood 1997, 90:612-619.
    • (1997) Blood , vol.90 , pp. 612-619
    • Ballmaier, M.1    Schulze, H.2    Strauss, G.3
  • 99
    • 0023720268 scopus 로고
    • Defective megakaryocytopoiesis in the syndrome of thrombocytopenia with absent radii
    • Homans AC, Cohen JL, Mazur EM: Defective megakaryocytopoiesis in the syndrome of thrombocytopenia with absent radii. Br J Haematol 1988, 70:205-210.
    • (1988) Br J Haematol , vol.70 , pp. 205-210
    • Homans, A.C.1    Cohen, J.L.2    Mazur, E.M.3
  • 100
    • 0026034496 scopus 로고
    • Thrombocytopenia and absent radii syndrome: Defective megakaryocytopoiesis-thrombocytopoiesis
    • de Alarcon PA, Graeve JA, Levine RF, et al.: Thrombocytopenia and absent radii syndrome: defective megakaryocytopoiesis-thrombocytopoiesis. Am J Pediatr Hematol Oncol 1991, 13:77-83.
    • (1991) Am J Pediatr Hematol Oncol , vol.13 , pp. 77-83
    • De Alarcon, P.A.1    Graeve, J.A.2    Levine, R.F.3
  • 101
    • 0023158893 scopus 로고
    • Thrombocytopenia and absent radius (TAR) syndrome
    • Hall JG: Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet 1987, 24:79-83.
    • (1987) J Med Genet , vol.24 , pp. 79-83
    • Hall, J.G.1
  • 102
    • 7844223621 scopus 로고    scopus 로고
    • Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)
    • Strippoli P, Savoia A, Iolascon A et al.: Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). Br J Haematol 1998, 103:311-314.
    • (1998) Br J Haematol , vol.103 , pp. 311-314
    • Strippoli, P.1    Savoia, A.2    Iolascon, A.3
  • 103
    • 0032227283 scopus 로고    scopus 로고
    • Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii
    • Ballmaier M, Schulze H, Cremer M, et al.: Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii. Stem Cells 1998, 16:177-184.
    • (1998) Stem Cells , vol.16 , pp. 177-184
    • Ballmaier, M.1    Schulze, H.2    Cremer, M.3
  • 104
    • 0030051857 scopus 로고    scopus 로고
    • Thrombin-induced GPIb-IX centralization on the platelet surface requires actin assembly and myosin II activation
    • Kovacsovics TJ, Hartwig JH: Thrombin-induced GPIb-IX centralization on the platelet surface requires actin assembly and myosin II activation. Blood 1996, 87:618-629.
    • (1996) Blood , vol.87 , pp. 618-629
    • Kovacsovics, T.J.1    Hartwig, J.H.2
  • 105
    • 0032504209 scopus 로고    scopus 로고
    • Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha
    • Takafuta T, Wu G, Murphy GF, Shapiro SS: Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha. J Biol Chem 1998, 273:17531-17538.
    • (1998) J Biol Chem , vol.273 , pp. 17531-17538
    • Takafuta, T.1    Wu, G.2    Murphy, G.F.3    Shapiro, S.S.4
  • 106
    • 0037105457 scopus 로고    scopus 로고
    • Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome
    • Kanaji T, Russell S, Ware J: Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome. Blood 2002, 100:2102-2107. Studies of the mouse model of BSS demonstrates that the cytoplasmic domain of GPIbα interacts with β-filamin and that reestablishment of this interaction partially corrects platelet size; however, a significant functional platelet defect remains, confirming the importance of the extracellular domain of GPIbα in hemostasis.
    • (2002) Blood , vol.100 , pp. 2102-2107
    • Kanaji, T.1    Russell, S.2    Ware, J.3
  • 107
    • 0035282727 scopus 로고    scopus 로고
    • Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome
    • Savoia A, Balduini CL, Savino M, et al.: Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001, 97:1330-1335.
    • (2001) Blood , vol.97 , pp. 1330-1335
    • Savoia, A.1    Balduini, C.L.2    Savino, M.3
  • 108
    • 0035201349 scopus 로고    scopus 로고
    • Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder
    • Kunishima S, Naoe T, Kamiya T, Saito H: Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder. Am J Hematol 2001, 68:249-255.
    • (2001) Am J Hematol , vol.68 , pp. 249-255
    • Kunishima, S.1    Naoe, T.2    Kamiya, T.3
  • 109
    • 0035313920 scopus 로고    scopus 로고
    • Bernard-Soulier syndrome associated with 22q11.2 microdeletion
    • Nakagawa M, Okuno M, Okamoto N, et al.: Bernard-Soulier syndrome associated with 22q11.2 microdeletion. Am J Med Genet 2001, 99:286-288.
    • (2001) Am J Med Genet , vol.99 , pp. 286-288
    • Nakagawa, M.1    Okuno, M.2    Okamoto, N.3
  • 110
    • 0028926898 scopus 로고
    • Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2
    • Budarf ML, Konkle BA, Ludlow LB, et al.: Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 1995, 4:763-766.
    • (1995) Hum Mol Genet , vol.4 , pp. 763-766
    • Budarf, M.L.1    Konkle, B.A.2    Ludlow, L.B.3
  • 111
    • 0034501036 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein and platelets
    • Oda A, Ochs HD: Wiskott-Aldrich syndrome protein and platelets. Immunol Rev 2000, 178:111-117.
    • (2000) Immunol Rev , vol.178 , pp. 111-117
    • Oda, A.1    Ochs, H.D.2
  • 112
    • 0033791690 scopus 로고    scopus 로고
    • Molecular biology of the Wiskott-Aldrich syndrome
    • Rengan R, Ochs HD: Molecular biology of the Wiskott-Aldrich syndrome. Rev Immunogenet 2000, 2:243-255.
    • (2000) Rev Immunogenet , vol.2 , pp. 243-255
    • Rengan, R.1    Ochs, H.D.2
  • 113
    • 0031755919 scopus 로고    scopus 로고
    • The Wiskott-Aldrich syndrome
    • Ochs HD: The Wiskott-Aldrich syndrome. Semin Hematol 1998, 35:332-345.
    • (1998) Semin Hematol , vol.35 , pp. 332-345
    • Ochs, H.D.1
  • 114
    • 0033566292 scopus 로고    scopus 로고
    • The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation
    • Haddad E, Cramer E, Riviere C, et al.: The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation. Blood 1999 94:509-518.
    • (1999) Blood , vol.94 , pp. 509-518
    • Haddad, E.1    Cramer, E.2    Riviere, C.3
  • 115
    • 0030804315 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype
    • Zhu Q, Watanabe C, Liu T, et al.: Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 1997, 90:2680-2689.
    • (1997) Blood , vol.90 , pp. 2680-2689
    • Zhu, Q.1    Watanabe, C.2    Liu, T.3
  • 116
    • 0029836850 scopus 로고    scopus 로고
    • Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene
    • de Saint Basile G, Lagelouse RD, Lambert N, et al.: Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. J Pediatr 1996, 129:56-62.
    • (1996) J Pediatr , vol.129 , pp. 56-62
    • De Saint Basile, G.1    Lagelouse, R.D.2    Lambert, N.3
  • 117
    • 0037085797 scopus 로고    scopus 로고
    • Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia
    • Notarangelo LD, Mazza C, Giliani S, et al.: Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood 2002, 99:2268-2269.
    • (2002) Blood , vol.99 , pp. 2268-2269
    • Notarangelo, L.D.1    Mazza, C.2    Giliani, S.3
  • 118
    • 0027937223 scopus 로고
    • Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
    • following 922
    • Derry JM, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994, 79:following 922.
    • (1994) Cell , vol.79
    • Derry, J.M.1    Ochs, H.D.2    Francke, U.3
  • 119
    • 0028937177 scopus 로고
    • X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
    • Villa A, Notarangelo L, Macchi P, et al.: X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 1995, 9:414-417.
    • (1995) Nat Genet , vol.9 , pp. 414-417
    • Villa, A.1    Notarangelo, L.2    Macchi, P.3
  • 120
    • 20244379555 scopus 로고    scopus 로고
    • WASPbase: A database of WAS- and XLT-causing mutations
    • Schwarz K: WASPbase: a database of WAS- and XLT-causing mutations. Immunol Today 1 996, 17:496-502.
    • (1996) Immunol Today , vol.17 , pp. 496-502
    • Schwarz, K.1
  • 121
    • 0033485918 scopus 로고    scopus 로고
    • WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction
    • Shcherbina A, Rosen FS, Remold-O'Donnell E: WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction. J Immunol 1999, 163:6314-6320.
    • (1999) J Immunol , vol.163 , pp. 6314-6320
    • Shcherbina, A.1    Rosen, F.S.2
  • 123
    • 0033587188 scopus 로고    scopus 로고
    • The Wiskott-Aldrich syndrome protein directs actin-based motility by stimulating actin nucleation with the Arp2/3 complex
    • Yarar D, To W, Abo A, Welch MD: The Wiskott-Aldrich syndrome protein directs actin-based motility by stimulating actin nucleation with the Arp2/3 complex. Curr Biol 1999, 9:555-558.
    • (1999) Curr Biol , vol.9 , pp. 555-558
    • Yarar, D.1    To, W.2    Abo, A.3
  • 124
    • 0033231935 scopus 로고    scopus 로고
    • The world according to Arp: Regulation of actin nucleation by the Arp2/3 complex
    • Welch MD: The world according to Arp: regulation of actin nucleation by the Arp2/3 complex. Trends Cell Biol 1999, 9:423-427.
    • (1999) Trends Cell Biol , vol.9 , pp. 423-427
    • Welch, M.D.1
  • 125
    • 0037312567 scopus 로고    scopus 로고
    • X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP)
    • Luthi JN, Gandhi MJ, Drachman JG: X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP). Exp Hematol 2003, 31:150-158.
    • (2003) Exp Hematol , vol.31 , pp. 150-158
    • Luthi, J.N.1    Gandhi, M.J.2    Drachman, J.G.3
  • 126
    • 0031446340 scopus 로고    scopus 로고
    • WIP, a protein associated with wiskott-aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells
    • Ramesh N, Anton IM, Hartwig JH, Geha RS: WIP, a protein associated with wiskott-aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. Proc Natl Acad Sci U S A 1997, 94:14671-14676.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 14671-14676
    • Ramesh, N.1    Anton, I.M.2    Hartwig, J.H.3
  • 127
    • 0033561727 scopus 로고    scopus 로고
    • Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein
    • Stewart DM, Tian L, Nelson DL: Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein. J Immunol 1999, 162:5019-5024.
    • (1999) J Immunol , vol.162 , pp. 5019-5024
    • Stewart, D.M.1    Tian, L.2    Nelson, D.L.3
  • 128
    • 0034683746 scopus 로고    scopus 로고
    • Mechanism of N-WASP activation by CDC42 and phosphatidylinositol 4, 5-bisphosphate
    • Rohatgi R, Ho HY, Kirschner MW: Mechanism of N-WASP activation by CDC42 and phosphatidylinositol 4, 5-bisphosphate. J Cell Biol 2000, 150:1299-1310.
    • (2000) J Cell Biol , vol.150 , pp. 1299-1310
    • Rohatgi, R.1    Ho, H.Y.2    Kirschner, M.W.3
  • 129
    • 0030006284 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization
    • Symons M, Derry JM, Karlak B, et al.: Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell 1996, 84:723-734.
    • (1996) Cell , vol.84 , pp. 723-734
    • Symons, M.1    Derry, J.M.2    Karlak, B.3
  • 130
    • 0035093787 scopus 로고    scopus 로고
    • Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
    • Devriendt K, Kim AS, Mathijs G, et al.: Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001, 27:313-317.
    • (2001) Nat Genet , vol.27 , pp. 313-317
    • Devriendt, K.1    Kim, A.S.2    Mathijs, G.3
  • 131
    • 0033552631 scopus 로고    scopus 로고
    • Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes
    • Italiano JE Jr, Lecine P, Shivdasani RA, Hartwig JH: Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes. J Cell Biol 1999, 147:1299-1312.
    • (1999) J Cell Biol , vol.147 , pp. 1299-1312
    • Italiano Jr., J.E.1    Lecine, P.2    Shivdasani, R.A.3    Hartwig, J.H.4
  • 132
    • 0038792174 scopus 로고    scopus 로고
    • Mechanisms and implications of platelet discoid shape
    • Italiano JE Jr, Bergmeier W, Tiwari S, et al.: Mechanisms and implications of platelet discoid shape. Blood 2003, 101:4789-4796. A detailed description of the platelet cytoskeleton.
    • (2003) Blood , vol.101 , pp. 4789-4796
    • Italiano Jr., J.E.1    Bergmeier, W.2    Tiwari, S.3
  • 134
    • 0022370687 scopus 로고
    • Organization of the cytoskeleton in resting, discoid platelets: Preservation of actin filaments by a modified fixation that prevents osmium damage
    • Boyles J, Fo JE, Phillips DR, Stenberg PE: Organization of the cytoskeleton in resting, discoid platelets: preservation of actin filaments by a modified fixation that prevents osmium damage. J Cell Biol 1985, 101:1463-1472.
    • (1985) J Cell Biol , vol.101 , pp. 1463-1472
    • Boyles, J.1    Fo, J.E.2    Phillips, D.R.3    Stenberg, P.E.4
  • 135
    • 0021244965 scopus 로고
    • Actin filament content and organization in unstimulated platelets
    • Fox JE, Boyles JK, Reynolds CC, Phillips DR: Actin filament content and organization in unstimulated platelets. J Cell Biol 1984, 98:1985-1991.
    • (1984) J Cell Biol , vol.98 , pp. 1985-1991
    • Fox, J.E.1    Boyles, J.K.2    Reynolds, C.C.3    Phillips, D.R.4
  • 136
    • 0022272123 scopus 로고
    • The cystoskeleton of unstimulated blood platelets: Structure and composition of the isolated marginal microtubular band
    • Kenney DM, Linck RW: The cystoskeleton of unstimulated blood platelets: structure and composition of the isolated marginal microtubular band. J Cell Sci 1985, 78:1-22.
    • (1985) J Cell Sci , vol.78 , pp. 1-22
    • Kenney, D.M.1    Linck, R.W.2
  • 137
    • 0023839824 scopus 로고
    • A novel microtubule protein in the marginal band of human blood platelets
    • Kenney DM, Weiss LD, Linck RW: A novel microtubule protein in the marginal band of human blood platelets. J Biol Chem 1988, 263:1432-1438.
    • (1988) J Biol Chem , vol.263 , pp. 1432-1438
    • Kenney, D.M.1    Weiss, L.D.2    Linck, R.W.3
  • 138
    • 0037105573 scopus 로고    scopus 로고
    • Normal Arp2/3 complex activation in platelets lacking WASp
    • Falet H, Hoffmeister KM, Neujahr R, Hartwig JH: Normal Arp2/3 complex activation in platelets lacking WASp. Blood 2002, 100:2113-2122.
    • (2002) Blood , vol.100 , pp. 2113-2122
    • Falet, H.1    Hoffmeister, K.M.2    Neujahr, R.3    Hartwig, J.H.4
  • 139
    • 0037910378 scopus 로고    scopus 로고
    • MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness
    • Baltimore
    • Seri M, Pecci A, Di Bari F, et al.: MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 2003, 82:203-215.
    • (2003) Medicine , vol.82 , pp. 203-215
    • Seri, M.1    Pecci, A.2    Di Bari, F.3
  • 140
    • 0034755959 scopus 로고    scopus 로고
    • Nonmuscle myosin heavy chain Ua mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
    • Heath KE, Campos-Barros A, Toren A, et al.: Nonmuscle myosin heavy chain UA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 2001, 69:1033-1045.
    • (2001) Am J Hum Genet , vol.69 , pp. 1033-1045
    • Heath, K.E.1    Campos-Barros, A.2    Toren, A.3
  • 141
    • 0026029783 scopus 로고
    • Chicken nonmuscle myosin heavy chains: Differential expression of two mRNAs and evidence for two different polypeptides
    • Kawamoto S, Adelstein RS: Chicken nonmuscle myosin heavy chains: differential expression of two mRNAs and evidence for two different polypeptides. J Cell Biol 1991, 112:915-924.
    • (1991) J Cell Biol , vol.112 , pp. 915-924
    • Kawamoto, S.1    Adelstein, R.S.2
  • 142
    • 0033764817 scopus 로고    scopus 로고
    • Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9
    • Lalwani AK, Goldstein JA, Kelley MJ, et al.: Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 2000, 67:1121-1128.
    • (2000) Am J Hum Genet , vol.67 , pp. 1121-1128
    • Lalwani, A.K.1    Goldstein, J.A.2    Kelley, M.J.3
  • 143
    • 0026045726 scopus 로고
    • Cellular myosin heavy chain in human leukocytes: Isolation of 5′ cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation
    • Toothaker LE, Gonzalez DA, Tung N, et al.: Cellular myosin heavy chain in human leukocytes: isolation of 5′ cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation. Blood 1991, 78:1826-1833.
    • (1991) Blood , vol.78 , pp. 1826-1833
    • Toothaker, L.E.1    Gonzalez, D.A.2    Tung, N.3
  • 144
    • 0034677906 scopus 로고    scopus 로고
    • Myosins: A diverse superfamily
    • 7000
    • Sellers JR: Myosins: a diverse superfamily. Biochim Biophys Acta 7000, 1496:3-22.
    • Biochim Biophys Acta , vol.1496 , pp. 3-22
    • Sellers, J.R.1
  • 145
    • 0036738003 scopus 로고    scopus 로고
    • Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome
    • Di Pumpo M, Noris P, Pecci A, et al.: Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica 2002, 87:943-947.
    • (2002) Haematologica , vol.87 , pp. 943-947
    • Di Pumpo, M.1    Noris, P.2    Pecci, A.3
  • 146
    • 0042173047 scopus 로고    scopus 로고
    • FLJ14813 missense mutation: A candidate for autosomal dominant thrombocytopenia on human chromosome 10
    • Gandhi MJ, Cummings CL, Drachman JG: FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. Hum Hered 2003, 55:66-70. This identification of a new kinase in megakaryocytes suggests that much can still be learned from investigation of families with inherited thrombocytopenia.
    • (2003) Hum Hered , vol.55 , pp. 66-70
    • Gandhi, M.J.1    Cummings, C.L.2    Drachman, J.G.3
  • 148
    • 0015176866 scopus 로고
    • Gray platelet syndrome. A variety of qualitative platelet disorder
    • Raccuglia G: Gray platelet syndrome. A variety of qualitative platelet disorder. Am J Med 1971, 51:818-828.
    • (1971) Am J Med , vol.51 , pp. 818-828
    • Raccuglia, G.1
  • 149
    • 0019434958 scopus 로고
    • Defective alpha-granule production in megakaryocytes from gray platelet syndrome: Ultrastructural studies of bone marrow cells and megakaryocytes growing in culture from blood precursors
    • Breton-Gorius J, Vainchenker W, Nurden A, et al.: Defective alpha-granule production in megakaryocytes from gray platelet syndrome: ultrastructural studies of bone marrow cells and megakaryocytes growing in culture from blood precursors. Am J Pathol 1981, 102:10-19.
    • (1981) Am J Pathol , vol.102 , pp. 10-19
    • Breton-Gorius, J.1    Vainchenker, W.2    Nurden, A.3
  • 150
    • 0019819351 scopus 로고
    • Gray platelet syndrome: Alpha-granule deficiency. Its influence on platelet function
    • Levy-Toledano S, Caen JP, Breton-Gorius J, et al.: Gray platelet syndrome: alpha-granule deficiency. Its influence on platelet function. J Lab Clin Med 1981, 98:831-848.
    • (1981) J Lab Clin Med , vol.98 , pp. 831-848
    • Levy-Toledano, S.1    Caen, J.P.2    Breton-Gorius, J.3
  • 151
    • 0035469816 scopus 로고    scopus 로고
    • Newly recognized cellular abnormalities in the gray platelet syndrome
    • Drouin A, Favier R, Masse JM, et al.: Newly recognized cellular abnormalities in the gray platelet syndrome. Blood 2001, 98:1382-1391.
    • (2001) Blood , vol.98 , pp. 1382-1391
    • Drouin, A.1    Favier, R.2    Masse, J.M.3
  • 152
    • 0023202634 scopus 로고
    • Grey platelet syndrome: Studies on platelet alpha-granules, lysosomes and defective response to thrombin
    • Srivastava PC, Powling MJ, Nokes TJ, et al.: Grey platelet syndrome: studies on platelet alpha-granules, lysosomes and defective response to thrombin. Br J Haematol 1987, 65:441-446.
    • (1987) Br J Haematol , vol.65 , pp. 441-446
    • Srivastava, P.C.1    Powling, M.J.2    Nokes, T.J.3
  • 153
    • 0019441408 scopus 로고
    • Haemorrhagic thrombocytopathy associated with dilatation of the platelet-membrane complex
    • Green D, Ts'ao CH, Cohen I, Rossi EC: Haemorrhagic thrombocytopathy associated with dilatation of the platelet-membrane complex. Br J Haematol 1981, 48:595-600.
    • (1981) Br J Haematol , vol.48 , pp. 595-600
    • Green, D.1    Ts'ao, C.H.2    Cohen, I.3    Rossi, E.C.4
  • 154
    • 0021324548 scopus 로고
    • Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS)
    • Milton JG, Frojmovic MM, Tang SS, White JG: Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS). Am J Pathol 1984, 114:336-345.
    • (1984) Am J Pathol , vol.114 , pp. 336-345
    • Milton, J.G.1    Frojmovic, M.M.2    Tang, S.S.3    White, J.G.4
  • 155
    • 0024402639 scopus 로고
    • Montreal platelet syndrome: A defect in calcium-activated neutral proteinase (calpain)
    • Okita JR, Frojmovic MM, Kristopeit S, et al.: Montreal platelet syndrome: a defect in calcium-activated neutral proteinase (calpain). Blood 1989, 74:715-721.
    • (1989) Blood , vol.74 , pp. 715-721
    • Okita, J.R.1    Frojmovic, M.M.2    Kristopeit, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.