메뉴 건너뛰기




Volumn 7, Issue 4, 2009, Pages 278-292

Inherited platelet disorders: Thrombocytopenias and thrombocytopathies

Author keywords

[No Author keywords available]

Indexed keywords

DESMOPRESSIN;

EID: 73449114642     PISSN: 17232007     EISSN: None     Source Type: Journal    
DOI: 10.2450/2009.0078-08     Document Type: Review
Times cited : (47)

References (92)
  • 2
    • 84957409544 scopus 로고
    • Sur une nouvelle variete de dystropfie thrombocytaire-hemorragipare congenitale
    • Bernard J, Soulier JP. Sur une nouvelle variete de dystropfie thrombocytaire-hemorragipare congenitale. Semin Hop Paris 1948; 24 :3217-23.
    • (1948) Semin Hop Paris , vol.24 , pp. 3217-3223
    • Bernard, J.1    Soulier, J.P.2
  • 4
    • 0032722464 scopus 로고    scopus 로고
    • The glycoprotein Ib-IX-V complex in platelet adhesion and signaling
    • Andrews RK, Shen Y, Gardiner EE, et al. The glycoprotein Ib-IX-V complex in platelet adhesion and signaling. Thromb Haemost 1999; 82:357-64.
    • (1999) Thromb Haemost , vol.82 , pp. 357-364
    • Andrews, R.K.1    Shen, Y.2    Gardiner, E.E.3
  • 5
    • 0035448514 scopus 로고    scopus 로고
    • Biosynthesis and intracellular post-translational processing of normal and mutant platelet glycoprotein GPIb-IX
    • Ulsemer P, Strassel C, Baas MJ, et al. Biosynthesis and intracellular post-translational processing of normal and mutant platelet glycoprotein GPIb-IX. Biochem J 2001; 358: 295-303.
    • (2001) Biochem J , vol.358 , pp. 295-303
    • Ulsemer, P.1    Strassel, C.2    Baas, M.J.3
  • 6
    • 34548295151 scopus 로고    scopus 로고
    • Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran
    • Afrasiabi A, Lecchi A, Artoni A, et al. Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran. Platelets 2007; 18: 409-13.
    • (2007) Platelets , vol.18 , pp. 409-413
    • Afrasiabi, A.1    Lecchi, A.2    Artoni, A.3
  • 7
    • 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: 1330-5.
    • (2001) Blood , vol.97 , pp. 1330-1335
    • Savoia, A.1    Balduini, C.L.2    Savino, M.3
  • 8
    • 0026595653 scopus 로고
    • Mutation of leucine -57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard Soulier disease
    • Miller JL, Lyle VA, Cunningham D. Mutation of leucine -57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard Soulier disease. Blood 1992; 79: 439-46.
    • (1992) Blood , vol.79 , pp. 439-446
    • Miller, J.L.1    Lyle, V.A.2    Cunningham, D.3
  • 9
    • 0032955854 scopus 로고    scopus 로고
    • Compound heterozygosity (554-589 del, C515-T transition) in the platelet glycoprotein Ib alpha gene in a patient with a severe bleeding tendency
    • Margaglione M, D'Andrea G, Grandone E, et al. Compound heterozygosity (554-589 del, C515-T transition) in the platelet glycoprotein Ib alpha gene in a patient with a severe bleeding tendency. Thromb Haemost 1999; 81: 486-92.
    • (1999) Thromb Haemost , vol.81 , pp. 486-492
    • Margaglione, M.1    D'Andrea, G.2    Grandone, E.3
  • 10
    • 73449119177 scopus 로고    scopus 로고
    • Bernard-Soulier syndrome http://www.bernardsoulier.org/
    • Bernard-Soulier syndrome http://www.bernardsoulier.org/
  • 11
    • 24944581751 scopus 로고    scopus 로고
    • A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier syndrome (BSS)
    • Liang HP, Morel-Kopp MC, Clemetson JM, et al. A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier syndrome (BSS). Thromb Haemost 2005; 94: 599-605.
    • (2005) Thromb Haemost , vol.94 , pp. 599-605
    • Liang, H.P.1    Morel-Kopp, M.C.2    Clemetson, J.M.3
  • 12
    • 0035843178 scopus 로고    scopus 로고
    • Identification of the platelet ADP receptor targeted by antithrombotic drugs
    • Hollopeter G, Jantzen HM, Vincent D, et al. Identification of the platelet ADP receptor targeted by antithrombotic drugs. Nature 2001; 409: 202-7.
    • (2001) Nature , vol.409 , pp. 202-207
    • Hollopeter, G.1    Jantzen, H.M.2    Vincent, D.3
  • 14
    • 33750069428 scopus 로고    scopus 로고
    • Nucleotide receptor signaling in platelets
    • Kahner BN, Shankar H, Murugappan S, et al. Nucleotide receptor signaling in platelets. Thromb Haemost 2006; 4: 2317-26.
    • (2006) Thromb Haemost , vol.4 , pp. 2317-2326
    • Kahner, B.N.1    Shankar, H.2    Murugappan, S.3
  • 15
    • 18044373075 scopus 로고    scopus 로고
    • The P2 receptors and congenital platelet function defects
    • Cattaneo M. The P2 receptors and congenital platelet function defects. Semin Thromb Hemost 2005; 31: 168-73.
    • (2005) Semin Thromb Hemost , vol.31 , pp. 168-173
    • Cattaneo, M.1
  • 16
    • 0037452681 scopus 로고    scopus 로고
    • Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding
    • Cattaneo M, Zinghetti ML, Lombardi R, et al. Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proc Natl Acad Sci USA 2003; 100: 1978-83.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 1978-1983
    • Cattaneo, M.1    Zinghetti, M.L.2    Lombardi, R.3
  • 17
    • 33847124920 scopus 로고    scopus 로고
    • Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis
    • Remijn JA, IJsseldijk MJ, Strunk AL, et al. Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis. Clin Chem Lab Med 2007; 45: 187-9.
    • (2007) Clin Chem Lab Med , vol.45 , pp. 187-189
    • Remijn, J.A.1    IJsseldijk, M.J.2    Strunk, A.L.3
  • 18
    • 0030747037 scopus 로고    scopus 로고
    • Inherited disorders of platelet a-granules
    • Hayward CP. Inherited disorders of platelet a-granules. Platelets 1997; 8: 197-9.
    • (1997) Platelets , vol.8 , pp. 197-199
    • Hayward, C.P.1
  • 19
    • 18844478726 scopus 로고    scopus 로고
    • Platelet ultrastructural morphometry for diagnosis of partial ä-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. Study of 24 cases
    • Pujol-Moix N, Hernandez A, Escolar G, et al. Platelet ultrastructural morphometry for diagnosis of partial ä-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. Study of 24 cases. Haematologica 2000; 85: 620-7.
    • (2000) Haematologica , vol.85 , pp. 620-627
    • Pujol-Moix, N.1    Hernandez, A.2    Escolar, G.3
  • 20
    • 0002118130 scopus 로고    scopus 로고
    • The molecular basis for platelet activation
    • Hoffman R, Benz EJ, Shattil SJ, et al, editors, New York: Churchill Livingstone;
    • Brass LF. The molecular basis for platelet activation. In: Hoffman R, Benz EJ, Shattil SJ, et al., editors. Hematology. Basic Principles and Practice. New York: Churchill Livingstone; 2000. p.1841-50.
    • (2000) Hematology. Basic Principles and Practice , pp. 1841-1850
    • Brass, L.F.1
  • 21
    • 0018673733 scopus 로고
    • Heterogeneity in storage pool deficiency: Studies on granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, betathromboglobulin, and platelet-derived growth factor
    • Weiss HJ, Witte LD, Kaplan KL, et al. Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, betathromboglobulin, and platelet-derived growth factor. Blood 1979; 54: 1296-319.
    • (1979) Blood , vol.54 , pp. 1296-1319
    • Weiss, H.J.1    Witte, L.D.2    Kaplan, K.L.3
  • 22
    • 33846201270 scopus 로고    scopus 로고
    • The gray platelet syndrome: Clinical spectrum of the disease
    • Nurden AT, Nurden P. The gray platelet syndrome: clinical spectrum of the disease. Blood Rev 2007; 21: 21-36.
    • (2007) Blood Rev , vol.21 , pp. 21-36
    • Nurden, A.T.1    Nurden, P.2
  • 23
    • 0035196989 scopus 로고    scopus 로고
    • A new genetic isolate of gray platelet syndrome (GPS): Clinical, cellular, and hematologic characteristics
    • Falik-Zaccai TC, Anikster Y, Rivera CE, et al. A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. Mol Genet Metab 2001; 74: 303-13.
    • (2001) Mol Genet Metab , vol.74 , pp. 303-313
    • Falik-Zaccai, T.C.1    Anikster, Y.2    Rivera, C.E.3
  • 24
    • 0021748223 scopus 로고
    • Electron microscopic and functional studies on platelets in gray platelet syndrome
    • Mori K, Suzuki S, Sugai K. Electron microscopic and functional studies on platelets in gray platelet syndrome. Tohoku J Exp Med 1984; 143: 261-87.
    • (1984) Tohoku J Exp Med , vol.143 , pp. 261-287
    • Mori, K.1    Suzuki, S.2    Sugai, K.3
  • 25
    • 3042839777 scopus 로고    scopus 로고
    • Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome
    • Nurden P, Jandrot-Perrus M, Combrie R, et al. Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. Blood 2004; 104: 107-14.
    • (2004) Blood , vol.104 , pp. 107-114
    • Nurden, P.1    Jandrot-Perrus, M.2    Combrie, R.3
  • 26
    • 34147165665 scopus 로고    scopus 로고
    • X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation
    • Tubman VN, Levine JE, Campagna DR, et al. X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood 2007; 109: 3297-9.
    • (2007) Blood , vol.109 , pp. 3297-3299
    • Tubman, V.N.1    Levine, J.E.2    Campagna, D.R.3
  • 28
    • 0035880246 scopus 로고    scopus 로고
    • Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator
    • Kahr WH, Zheng S, Sheth PM, et al. Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. Blood 2001; 98: 257-65.
    • (2001) Blood , vol.98 , pp. 257-265
    • Kahr, W.H.1    Zheng, S.2    Sheth, P.M.3
  • 29
    • 0029952371 scopus 로고    scopus 로고
    • An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect
    • Hayward CPM, Rivard GE, Kane WH, et al. An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect. Blood 1996; 87: 4967-78.
    • (1996) Blood , vol.87 , pp. 4967-4978
    • Hayward, C.P.M.1    Rivard, G.E.2    Kane, W.H.3
  • 30
    • 0030293220 scopus 로고    scopus 로고
    • Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
    • Oh J, Bailin T, Fukai K, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996: 14; 300-6.
    • (1996) Nat Genet , vol.14 , pp. 300-306
    • Oh, J.1    Bailin, T.2    Fukai, K.3
  • 31
    • 0029145950 scopus 로고
    • Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3
    • Fukai K, Oh J, Frenk E, et al. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Human Mol Genet 1995; 4: 1665-9.
    • (1995) Human Mol Genet , vol.4 , pp. 1665-1669
    • Fukai, K.1    Oh, J.2    Frenk, E.3
  • 32
    • 1842581837 scopus 로고    scopus 로고
    • The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (bloc-2)
    • Gautam R, Chintala S, Li W, et al. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (bloc-2). J Biol Chem 2004; 279: 12935-42.
    • (2004) J Biol Chem , vol.279 , pp. 12935-12942
    • Gautam, R.1    Chintala, S.2    Li, W.3
  • 33
    • 0036157244 scopus 로고    scopus 로고
    • Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
    • Huizing M, Scher CD, Strovel E, et al. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res 2002; 51: 150-8.
    • (2002) Pediatr Res , vol.51 , pp. 150-158
    • Huizing, M.1    Scher, C.D.2    Strovel, E.3
  • 34
    • 0037666799 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics
    • Anderson PD, Huizing M, Claassen DA, et al. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet 2003; 113: 10-7.
    • (2003) Hum Genet , vol.113 , pp. 10-17
    • Anderson, P.D.1    Huizing, M.2    Claassen, D.A.3
  • 35
    • 73449134708 scopus 로고    scopus 로고
    • Mutations of the Hermansky-Pudlak syndrome-1 gene (HPS1) associated with Hermansky-Pudlak syndrome albinism database. International Albinism Center. University of Minnesota. In: Albinism Datebase Center. University of Minnesota. Available at URL:http://www.cbc.umn.edu/tad/hps1mut.htm.
    • Mutations of the Hermansky-Pudlak syndrome-1 gene (HPS1) associated with Hermansky-Pudlak syndrome albinism database. International Albinism Center. University of Minnesota. In: Albinism Datebase Center. University of Minnesota. Available at URL:http://www.cbc.umn.edu/tad/hps1mut.htm.
  • 36
    • 17344369131 scopus 로고    scopus 로고
    • Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity
    • Oh J, Ho L, Ala-Mello S, et al. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 1998; 62: 593-8.
    • (1998) Am J Hum Genet , vol.62 , pp. 593-598
    • Oh, J.1    Ho, L.2    Ala-Mello, S.3
  • 37
    • 2942703713 scopus 로고    scopus 로고
    • Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency
    • Corral J, Gonzalez-Conejero R, Pujol-Moix N, et al. Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency. Haematologica 2004; 89: 325-9.
    • (2004) Haematologica , vol.89 , pp. 325-329
    • Corral, J.1    Gonzalez-Conejero, R.2    Pujol-Moix, N.3
  • 39
    • 0032729471 scopus 로고    scopus 로고
    • Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome
    • Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab 1999; 68: 283-303.
    • (1999) Mol Genet Metab , vol.68 , pp. 283-303
    • Introne, W.1    Boissy, R.E.2    Gahl, W.A.3
  • 40
    • 0026678470 scopus 로고
    • Chediak-Higashi lymphoblastoid cell lines: Granule characteristics and expression of lysosome-associated membrane proteins
    • Jones KL, Stewart RM, Fowler M, et al. Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins. Clin Immunol Immunopathol 1992; 65: 219-26.
    • (1992) Clin Immunol Immunopathol , vol.65 , pp. 219-226
    • Jones, K.L.1    Stewart, R.M.2    Fowler, M.3
  • 41
    • 12944277163 scopus 로고    scopus 로고
    • Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome
    • Certain S, Barrat F, Pastural E, et al. Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. Blood 2000; 95: 979-83.
    • (2000) Blood , vol.95 , pp. 979-983
    • Certain, S.1    Barrat, F.2    Pastural, E.3
  • 42
    • 0030293556 scopus 로고    scopus 로고
    • Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
    • Nagle DL, Karim MA, Woolf EA, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 1996; 14: 307-11.
    • (1996) Nat Genet , vol.14 , pp. 307-311
    • Nagle, D.L.1    Karim, M.A.2    Woolf, E.A.3
  • 43
    • 0025253068 scopus 로고
    • Glanzmann's thrombasthenia: The spectrum of clinical disease
    • George JN, Caen JP, Nurden AT. Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood 1990; 75: 1383-95.
    • (1990) Blood , vol.75 , pp. 1383-1395
    • George, J.N.1    Caen, J.P.2    Nurden, A.T.3
  • 44
    • 0042600681 scopus 로고
    • Thrombocytoasthenia and thrombocytopathia. Old names and new diseases
    • Braunsteiner H, Pakesch F. Thrombocytoasthenia and thrombocytopathia. Old names and new diseases. Blood 1956; 11: 965-76.
    • (1956) Blood , vol.11 , pp. 965-976
    • Braunsteiner, H.1    Pakesch, F.2
  • 45
    • 0029763215 scopus 로고    scopus 로고
    • Analysis of GP IIb/IIIa receptor number by quantification of 7E3 binding to human platelets
    • Wagner CL, Mascelli MA Neblock DS, et al. Analysis of GP IIb/IIIa receptor number by quantification of 7E3 binding to human platelets. Blood 1996; 88: 907-14.
    • (1996) Blood , vol.88 , pp. 907-914
    • Wagner, C.L.1    Mascelli, M.A.2    Neblock, D.S.3
  • 46
    • 26044467953 scopus 로고    scopus 로고
    • Afrasiabi A, Artoni A, Karimi M, et al. Glanzmann thrombasthenia and Bernard-Soulier syndrome in south Iran. Clin Lab Haematol 2005; 27: 324-7. Erratum in: Clin Lab Haematol 2006; 28: 290.
    • Afrasiabi A, Artoni A, Karimi M, et al. Glanzmann thrombasthenia and Bernard-Soulier syndrome in south Iran. Clin Lab Haematol 2005; 27: 324-7. Erratum in: Clin Lab Haematol 2006; 28: 290.
  • 47
    • 0346102708 scopus 로고    scopus 로고
    • Glanzmann's Thrombasthemia Italian Team (GLATIT). Glanzmann's thrombasthenia: Modulation of clinical phenotype by alpha2C807T gene polymorphism
    • D'Andrea G, Margaglione M, Glanzmann's Thrombasthemia Italian Team (GLATIT). Glanzmann's thrombasthenia: modulation of clinical phenotype by alpha2C807T gene polymorphism. Haematologica 2003; 88: 1378-82.
    • (2003) Haematologica , vol.88 , pp. 1378-1382
    • D'Andrea, G.1    Margaglione, M.2
  • 48
    • 0031929048 scopus 로고    scopus 로고
    • The molecular genetics of Glanzmann's thrombasthenia
    • French DL. The molecular genetics of Glanzmann's thrombasthenia. Platelets 1998; 9: 5-20.
    • (1998) Platelets , vol.9 , pp. 5-20
    • French, D.L.1
  • 49
    • 0036282646 scopus 로고    scopus 로고
    • Glanzmann's thrombasthenia: Identification of 19 new mutations in 30 patients
    • D'Andrea G, Colaizzo D, Vecchione G, et al. Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. Thromb Haemost 2002; 87: 1034-42.
    • (2002) Thromb Haemost , vol.87 , pp. 1034-1042
    • D'Andrea, G.1    Colaizzo, D.2    Vecchione, G.3
  • 50
    • 0031013031 scopus 로고    scopus 로고
    • Folding of the N-terminal, ligand-binding region of integrin α-subunits into a β - propeller domain
    • Springer TA. Folding of the N-terminal, ligand-binding region of integrin α-subunits into a β - propeller domain. Proc Natl Acad Sci USA 1997; 94: 65-72.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 65-72
    • Springer, T.A.1
  • 51
    • 0026761286 scopus 로고
    • A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site
    • Bajt ML, Ginsberg MH, Frelinger AL 3rd, et al. A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. J Biol Chem 1992; 267: 3789-3.
    • (1992) J Biol Chem , vol.267 , pp. 3789-3793
    • Bajt, M.L.1    Ginsberg, M.H.2    Frelinger 3rd, A.L.3
  • 52
    • 0029786892 scopus 로고    scopus 로고
    • Ligand binding to integrin aIIb3b is dependent on MIDAS-like domain in the b3 Subunit
    • Tozer EC, Liddington RC, Sutcliffe MJ, et al. Ligand binding to integrin aIIb3b is dependent on MIDAS-like domain in the b3 Subunit. J Biol Chem 1996; 271: 21978-84.
    • (1996) J Biol Chem , vol.271 , pp. 21978-21984
    • Tozer, E.C.1    Liddington, R.C.2    Sutcliffe, M.J.3
  • 53
    • 0036729273 scopus 로고    scopus 로고
    • Molecular basis of Glanzmann's thrombasthenia and current strategies in treatment
    • Bellucci S, Caen J. Molecular basis of Glanzmann's thrombasthenia and current strategies in treatment. Blood Rev 2002; 16: 193-202.
    • (2002) Blood Rev , vol.16 , pp. 193-202
    • Bellucci, S.1    Caen, J.2
  • 54
    • 0027999286 scopus 로고
    • Scott syndrome: A disorder of platelet coagulant activity
    • Weiss HJ. Scott syndrome: a disorder of platelet coagulant activity. Semin Hematol 1994; 31: 312-9.
    • (1994) Semin Hematol , vol.31 , pp. 312-319
    • Weiss, H.J.1
  • 55
    • 0035900574 scopus 로고    scopus 로고
    • Characterization of the ATPase cycle of human ABCA1: Implications for its function as a regulator rather than an active transporter
    • Szakacs G, Langmann T, Ozvegy C, et al. Characterization of the ATPase cycle of human ABCA1: implications for its function as a regulator rather than an active transporter. Biochem Biophys Res Commun 2001; 288: 1258-64.
    • (2001) Biochem Biophys Res Commun , vol.288 , pp. 1258-1264
    • Szakacs, G.1    Langmann, T.2    Ozvegy, C.3
  • 56
    • 22144479426 scopus 로고    scopus 로고
    • A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome
    • Albrecht C, McVey JH, Elliott JI, et al. A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. Blood 2005; 106: 542-9.
    • (2005) Blood , vol.106 , pp. 542-549
    • Albrecht, C.1    McVey, J.H.2    Elliott, J.I.3
  • 57
    • 0942266051 scopus 로고    scopus 로고
    • Inherited thrombocytopenia: When a low platelet count does not mean ITP
    • Drachman JG. Inherited thrombocytopenia: when a low platelet count does not mean ITP. Blood 2004; 103: 390-8.
    • (2004) Blood , vol.103 , pp. 390-398
    • Drachman, J.G.1
  • 58
    • 0034506070 scopus 로고    scopus 로고
    • The Wiskott-Aldrich syndrome: Disordered actin dynamics in haematopoietic cells
    • Thrasher AJ, Bums S, Lorenzi R, Jones GE. The Wiskott-Aldrich syndrome: disordered actin dynamics in haematopoietic cells. Immunol Rev 2000; 178: 118-28.
    • (2000) Immunol Rev , vol.178 , pp. 118-128
    • Thrasher, A.J.1    Bums, S.2    Lorenzi, R.3    Jones, G.E.4
  • 60
    • 9144241005 scopus 로고    scopus 로고
    • Clinical course of patients with WASP gene mutations
    • Imai K, Morio T, Jin Y, et al. Clinical course of patients with WASP gene mutations. Blood 2004; 103: 456-64.
    • (2004) Blood , vol.103 , pp. 456-464
    • Imai, K.1    Morio, T.2    Jin, Y.3
  • 61
    • 33745609531 scopus 로고    scopus 로고
    • Deficiency in the Wiskott-Aldrich syndrome protein induces premature proplatelet formation and platelet production in the bone marrow compartment
    • Sabri S, Foudi A, Boukour S, et al. Deficiency in the Wiskott-Aldrich syndrome protein induces premature proplatelet formation and platelet production in the bone marrow compartment. Blood 2006; 108: 134-40.
    • (2006) Blood , vol.108 , pp. 134-140
    • Sabri, S.1    Foudi, A.2    Boukour, S.3
  • 62
    • 10244243692 scopus 로고    scopus 로고
    • Mutations of the Wiskott-Aldrich syndrome protein (WASP): Hotspots, effect on transcription, and translation and phenotype/ genotype correlation
    • Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott-Aldrich syndrome protein (WASP): hotspots, effect on transcription, and translation and phenotype/ genotype correlation. Blood 2004; 104: 4010-9.
    • (2004) Blood , vol.104 , pp. 4010-4019
    • Jin, Y.1    Mazza, C.2    Christie, J.R.3
  • 63
    • 0030804315 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression and phenotype
    • Zhu QL, Watanabe C, Liu T, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression and phenotype. Blood 1997; 90: 2680-9.
    • (1997) Blood , vol.90 , pp. 2680-2689
    • Zhu, Q.L.1    Watanabe, C.2    Liu, T.3
  • 64
    • 0024267689 scopus 로고
    • Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome
    • Donner M, Schwartz M, Carlsson KU, Holmberg L. Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood 1988; 72: 1849-53.
    • (1988) Blood , vol.72 , pp. 1849-1853
    • Donner, M.1    Schwartz, M.2    Carlsson, K.U.3    Holmberg, L.4
  • 65
    • 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. Nature Genet 1995; 9: 414-7.
    • (1995) Nature Genet , vol.9 , pp. 414-417
    • Villa, A.1    Notarangelo, L.2    Macchi, P.3
  • 66
    • 36348961924 scopus 로고    scopus 로고
    • Congenital amegakaryocytic thrombocytopenia: Clinical and biological consequences of five novel mutations
    • Savoia A, Dufour C, Locatelli F, et al. Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica 2007; 92: 1158-64.
    • (2007) Haematologica , vol.92 , pp. 1158-1164
    • Savoia, A.1    Dufour, C.2    Locatelli, F.3
  • 67
    • 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: 139-46.
    • (2001) Blood , vol.97 , pp. 139-146
    • Ballmaier, M.1    Germeshausen, M.2    Schulze, H.3
  • 68
    • 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: 612-9.
    • (1997) Blood , vol.90 , pp. 612-619
    • Ballmaier, M.1    Schulze, H.2    Strauss, G.3
  • 69
    • 7844223621 scopus 로고    scopus 로고
    • Mutational screening of thrombopoietin receptor (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)
    • Strippoli P, Savoia A, Iolascon A, et al. Mutational screening of thrombopoietin receptor (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). Br J Haematol 1998; 103: 1633-41.
    • (1998) Br J Haematol , vol.103 , pp. 1633-1641
    • Strippoli, P.1    Savoia, A.2    Iolascon, A.3
  • 70
    • 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: 397-8.
    • (2000) Nat Genet , vol.26 , pp. 397-398
    • Thompson, A.A.1    Nguyen, L.T.2
  • 71
    • 33644522742 scopus 로고    scopus 로고
    • Congenital macrothrombocytopenia
    • Kunishima S, Saito H. Congenital macrothrombocytopenia. Blood Rev 2006; 20: 111-21.
    • (2006) Blood Rev , vol.20 , pp. 111-121
    • Kunishima, S.1    Saito, H.2
  • 72
    • 0019352243 scopus 로고
    • The velo-cardio-facial syndrome: A clinical and genetic analysis
    • Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981; 67: 167-72.
    • (1981) Pediatrics , vol.67 , pp. 167-172
    • Shprintzen, R.J.1    Goldberg, R.B.2    Young, D.3    Wolford, L.4
  • 73
    • 0016782782 scopus 로고
    • Mediterranean macrothrombocytopenia
    • Behrens WE. Mediterranean macrothrombocytopenia. Blood 1975; 46: 199-208.
    • (1975) Blood , vol.46 , pp. 199-208
    • Behrens, W.E.1
  • 74
    • 0033812573 scopus 로고    scopus 로고
    • Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
    • The May-Hegglin/Fechtner Syndrome Consortium
    • The May-Hegglin/Fechtner Syndrome Consortium. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nat Genet 2000; 26: 103-5.
    • (2000) Nat Genet , vol.26 , pp. 103-105
  • 75
    • 0025141664 scopus 로고
    • Genetic thrombocytopenia with autosomal dominant transmission: A review of 54 cases
    • Najean Y, Lecompte T. Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases. Br J Haematol 1990; 74: 203-8.
    • (1990) Br J Haematol , vol.74 , pp. 203-208
    • Najean, Y.1    Lecompte, T.2
  • 76
    • 0042061198 scopus 로고    scopus 로고
    • Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-β
    • Kato T, Kosaka K, Kimura M, et al. Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-β. Genet Med 2003; 5: 113-9.
    • (2003) Genet Med , vol.5 , pp. 113-119
    • Kato, T.1    Kosaka, K.2    Kimura, M.3
  • 77
    • 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: 763-6.
    • (1995) Hum Mol Genet , vol.4 , pp. 763-766
    • Budarf, M.L.1    Konkle, B.A.2    Ludlow, L.B.3
  • 78
    • 9444242167 scopus 로고    scopus 로고
    • The del 22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis
    • Kelly RG, Jerome-Majewska LA, Papaioannou VE. The del 22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Hum Mol Genet 2004; 13: 2829-40.
    • (2004) Hum Mol Genet , vol.13 , pp. 2829-2840
    • Kelly, R.G.1    Jerome-Majewska, L.A.2    Papaioannou, V.E.3
  • 79
    • 85088603902 scopus 로고    scopus 로고
    • Platelet-type von Willebrand's disease: Characterization of a new bleeding disorder
    • Miller JL, Castella A. Platelet-type von Willebrand's disease: characterization of a new bleeding disorder. Blood 1997; 90: 698-705.
    • (1997) Blood , vol.90 , pp. 698-705
    • Miller, J.L.1    Castella, A.2
  • 80
    • 33750623252 scopus 로고    scopus 로고
    • Impaired megakaryocytopoiesis in type 2B Willebrand disease with severe thrombocytopenia
    • Nurden P, Debili N, Vainchenker W, et al. Impaired megakaryocytopoiesis in type 2B Willebrand disease with severe thrombocytopenia. Blood 2006; 108: 2587-95.
    • (2006) Blood , vol.108 , pp. 2587-2595
    • Nurden, P.1    Debili, N.2    Vainchenker, W.3
  • 81
    • 0025896722 scopus 로고
    • Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease
    • Miller JL, Cunningham D, Lyle VA, Finch CN. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci USA 1991; 88: 4761-5.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 4761-4765
    • Miller, J.L.1    Cunningham, D.2    Lyle, V.A.3    Finch, C.N.4
  • 82
    • 0032748139 scopus 로고    scopus 로고
    • Mapping of a gene for May-Hegglin anomaly to chromosome 22q
    • Kunishima S, Kojima T, Tanaka T, et al. Mapping of a gene for May-Hegglin anomaly to chromosome 22q. Human Genet 1999; 105: 379-83.
    • (1999) Human Genet , vol.105 , pp. 379-383
    • Kunishima, S.1    Kojima, T.2    Tanaka, T.3
  • 83
    • 0034755959 scopus 로고    scopus 로고
    • Nonmuscle myosin heavy chain IIA 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 IIA 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: 1033-45.
    • (2001) Am J Hum Genet , vol.69 , pp. 1033-1045
    • Heath, K.E.1    Campos-Barros, A.2    Toren, A.3
  • 84
    • 0036138503 scopus 로고    scopus 로고
    • Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutation in Epstein and Fechtner syndromes
    • Arrondel C, Vodovar N, Knebelmann B, et al. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutation in Epstein and Fechtner syndromes. J Am Soc Nephrol 2002; 13: 65-74.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 65-74
    • Arrondel, C.1    Vodovar, N.2    Knebelmann, B.3
  • 85
    • 0033812573 scopus 로고    scopus 로고
    • Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner Syndrome Consortium
    • Seri M, Cusano R, Gangarossa S, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner Syndrome Consortium. Nat Genet 2000; 26: 103-5.
    • (2000) Nat Genet , vol.26 , pp. 103-105
    • Seri, M.1    Cusano, R.2    Gangarossa, S.3
  • 86
    • 0242606428 scopus 로고    scopus 로고
    • Paris-Trousseau syndrome: Clinical, haematological, molecular data of ten new cases
    • Favier R, Jondeau K, Boutard P, et al. Paris-Trousseau syndrome: clinical, haematological, molecular data of ten new cases. Thromb Haemost 2003; 90: 893-7.
    • (2003) Thromb Haemost , vol.90 , pp. 893-897
    • Favier, R.1    Jondeau, K.2    Boutard, P.3
  • 87
    • 3342974500 scopus 로고    scopus 로고
    • The 11q terminal deletion disorder: A prospective study of 110 cases
    • Grossfeld PD, Mattina T, Lai Z, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet 2004; 129: 51-61.
    • (2004) Am J Med Genet , vol.129 , pp. 51-61
    • Grossfeld, P.D.1    Mattina, T.2    Lai, Z.3
  • 88
    • 0025191232 scopus 로고
    • Use of DDAVP in inherited and acquired platelet dysfunction
    • DiMichele DM, Hathaway WE. Use of DDAVP in inherited and acquired platelet dysfunction. Am J Hematol 1990; 33: 39-45.
    • (1990) Am J Hematol , vol.33 , pp. 39-45
    • DiMichele, D.M.1    Hathaway, W.E.2
  • 89
    • 34547673114 scopus 로고    scopus 로고
    • The use of desmopressin as a hemostatic agent: A concise review
    • Franchini M. The use of desmopressin as a hemostatic agent: a concise review. Am J Hematol 2007; 82: 731-5.
    • (2007) Am J Hematol , vol.82 , pp. 731-735
    • Franchini, M.1
  • 90
    • 12344265599 scopus 로고    scopus 로고
    • Recombinant activated factor VII in patients at high risk of bleeding
    • Kubisz P, Stasko J. Recombinant activated factor VII in patients at high risk of bleeding. Hematology 2004; 9: 317-32.
    • (2004) Hematology , vol.9 , pp. 317-332
    • Kubisz, P.1    Stasko, J.2
  • 92
    • 0033964201 scopus 로고    scopus 로고
    • Bellucci S, Damaj G, Boval B, et al. Bone marrow transplantation in severe Glanzmann's thromboasthenia with antiplatelet alloimmunization. Bone Marrow Transplant 2000; 25: 327-30.
    • Bellucci S, Damaj G, Boval B, et al. Bone marrow transplantation in severe Glanzmann's thromboasthenia with antiplatelet alloimmunization. Bone Marrow Transplant 2000; 25: 327-30.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.