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Volumn 31, Issue 2, 2003, Pages 150-158

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)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; GLUTAMIC ACID; MUTANT PROTEIN; PROLINE; PROTEIN; UNCLASSIFIED DRUG; WISKOTT ALDRICH SYNDROME PROTEIN; WISKOTT ALDRICH SYNDROME PROTEIN INTERACTING PROTEIN;

EID: 0037312567     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0301-472X(02)01023-8     Document Type: Article
Times cited : (35)

References (38)
  • 1
    • 0001102239 scopus 로고
    • Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea
    • Aldrich R.A., Steinberg A.G., Campbell D.C. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics. 13:1954;133-138.
    • (1954) Pediatrics. , vol.13 , pp. 133-138
    • Aldrich, R.A.1    Steinberg, A.G.2    Campbell, D.C.3
  • 2
    • 0035100982 scopus 로고    scopus 로고
    • The Wiskott-Aldrich syndrome
    • Ochs H.D. The Wiskott-Aldrich syndrome. Clin Rev Allergy Immunol. 20:2001;61-86.
    • (2001) Clin Rev Allergy Immunol. , vol.20 , pp. 61-86
    • Ochs, H.D.1
  • 3
    • 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. 9:1995;414-417.
    • (1995) Nat Genet. , vol.9 , pp. 414-417
    • Villa, A.1    Notarangelo, L.2    Macchi, P.3
  • 4
    • 0018932524 scopus 로고
    • The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979)
    • Perry G.S. 3rd, Spector B.D., Schuman L.M.et al. The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr. 97:1980;72-78.
    • (1980) J Pediatr. , vol.97 , pp. 72-78
    • Perry G.S. III1    Spector, B.D.2    Schuman, L.M.3
  • 5
    • 0032576743 scopus 로고    scopus 로고
    • X-linked Wiskott-Aldrich syndrome in a girl
    • Parolini O., Ressmann G., Haas O.A.et al. X-linked Wiskott-Aldrich syndrome in a girl. N Engl J Med. 338:1998;291-295.
    • (1998) N Engl J Med. , vol.338 , pp. 291-295
    • Parolini, O.1    Ressmann, G.2    Haas, O.A.3
  • 6
    • 0023192321 scopus 로고
    • Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome
    • Peacocke M., Siminovitch K.A. Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome. Proc Natl Acad Sci U S A. 84:1987;3430-3433.
    • (1987) Proc Natl Acad Sci U S A. , vol.84 , pp. 3430-3433
    • Peacocke, M.1    Siminovitch, K.A.2
  • 7
    • 0024051574 scopus 로고
    • Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers
    • Kwan S.P., Sandkuyl L.A., Blaese M.et al. Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers. Genomics. 3:1988;39-43.
    • (1988) Genomics. , vol.3 , pp. 39-43
    • Kwan, S.P.1    Sandkuyl, L.A.2    Blaese, M.3
  • 8
    • 0024314141 scopus 로고
    • Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome
    • de Saint Basile G., Arveiler B., Fraser N.J.et al. Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome. Lancet. 2:1989;1319-1321.
    • (1989) Lancet. , vol.2 , pp. 1319-1321
    • De Saint Basile, G.1    Arveiler, B.2    Fraser, N.J.3
  • 9
    • 0027937223 scopus 로고
    • Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
    • Derry J.M., Ochs H.D., Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 78:1994;635-644.
    • (1994) Cell. , vol.78 , pp. 635-644
    • Derry, J.M.1    Ochs, H.D.2    Francke, U.3
  • 10
    • 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. 90:1997;2680-2689.
    • (1997) Blood. , vol.90 , pp. 2680-2689
    • Zhu, Q.1    Watanabe, C.2    Liu, T.3
  • 11
    • 0032146170 scopus 로고    scopus 로고
    • Characterization of the Wiskott-Aldrich syndrome protein and its role in the disease
    • Nonoyama S., Ochs H.D. Characterization of the Wiskott-Aldrich syndrome protein and its role in the disease. Curr Opin Immunol. 10:1998;407-412.
    • (1998) Curr Opin Immunol. , vol.10 , pp. 407-412
    • Nonoyama, S.1    Ochs, H.D.2
  • 12
    • 0030006284 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization
    • Symons M., Derry J.M., Karlak B.et al. Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell. 84:1996;723-734.
    • (1996) Cell. , vol.84 , pp. 723-734
    • Symons, M.1    Derry, J.M.2    Karlak, B.3
  • 14
    • 0029680639 scopus 로고    scopus 로고
    • Two GTPases, Cdc42 and Rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott-Aldrich syndrome
    • Aspenstrom P., Lindberg U., Hall A. Two GTPases, Cdc42 and Rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott-Aldrich syndrome. Curr Biol. 6:1996;70-75.
    • (1996) Curr Biol. , vol.6 , pp. 70-75
    • Aspenstrom, P.1    Lindberg, U.2    Hall, A.3
  • 15
    • 0029815611 scopus 로고    scopus 로고
    • N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kinases
    • Miki H., Miura K., Takenawa T. N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kinases. EMBO J. 15:1996;5326-5335.
    • (1996) EMBO J. , vol.15 , pp. 5326-5335
    • Miki, H.1    Miura, K.2    Takenawa, T.3
  • 16
    • 0033578780 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein induces actin clustering without direct binding to Cdc42
    • Kato M., Miki H., Imai K.et al. Wiskott-Aldrich syndrome protein induces actin clustering without direct binding to Cdc42. J Biol Chem. 274:1999;27225-27230.
    • (1999) J Biol Chem. , vol.274 , pp. 27225-27230
    • Kato, M.1    Miki, H.2    Imai, K.3
  • 17
    • 0028308576 scopus 로고
    • Physical association between Src homology 3 elements and the protein product of the c-Cbl proto-oncogene
    • Rivero-Lezcano O.M., Sameshima J.H., Marcilla A., Robbins K.C. Physical association between Src homology 3 elements and the protein product of the c-Cbl proto-oncogene. J Biol Chem. 269:1994;17363-17366.
    • (1994) J Biol Chem. , vol.269 , pp. 17363-17366
    • Rivero-Lezcano, O.M.1    Sameshima, J.H.2    Marcilla, A.3    Robbins, K.C.4
  • 18
    • 0030221475 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases
    • Banin S., Truong O., Katz D.R., Waterfield M.D., Brickell P.M., Gout I. Wiskott-Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases. Curr Biol. 6:1996;981-988.
    • (1996) Curr Biol. , vol.6 , pp. 981-988
    • Banin, S.1    Truong, O.2    Katz, D.R.3    Waterfield, M.D.4    Brickell, P.M.5    Gout, I.6
  • 19
    • 0030292702 scopus 로고    scopus 로고
    • Evidence that the Wiskott-Aldrich syndrome protein may be involved in lymphoid cell signaling pathways
    • Cory G.O., MacCarthy-Morrogh L., Banin S.et al. Evidence that the Wiskott-Aldrich syndrome protein may be involved in lymphoid cell signaling pathways. J Immunol. 157:1996;3791-3795.
    • (1996) J Immunol. , vol.157 , pp. 3791-3795
    • Cory, G.O.1    MacCarthy-Morrogh, L.2    Banin, S.3
  • 20
    • 0030000795 scopus 로고    scopus 로고
    • Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src homology 3 domains
    • Finan P.M., Soames C.J., Wilson L.et al. Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src homology 3 domains. J Biol Chem. 271:1996;26291-26295.
    • (1996) J Biol Chem. , vol.271 , pp. 26291-26295
    • Finan, P.M.1    Soames, C.J.2    Wilson, L.3
  • 21
    • 0032791313 scopus 로고    scopus 로고
    • The pleckstrin homology domain of the Wiskott-Aldrich syndrome protein is involved in the organization of actin cytoskeleton
    • Imai K., Nonoyama S., Miki H.et al. The pleckstrin homology domain of the Wiskott-Aldrich syndrome protein is involved in the organization of actin cytoskeleton. Clin Immunol. 92:1999;128-137.
    • (1999) Clin Immunol. , vol.92 , pp. 128-137
    • Imai, K.1    Nonoyama, S.2    Miki, H.3
  • 22
    • 0032414603 scopus 로고    scopus 로고
    • EVH1/WH1 domains of VASP and WASP proteins belong to a large family including Ran-binding domains of the RanBP1 family
    • Callebaut I., Cossart P., Dehoux P. EVH1/WH1 domains of VASP and WASP proteins belong to a large family including Ran-binding domains of the RanBP1 family. FEBS Lett. 441:1998;181-185.
    • (1998) FEBS Lett. , vol.441 , pp. 181-185
    • Callebaut, I.1    Cossart, P.2    Dehoux, P.3
  • 23
    • 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 I.M., Hartwig J.H., Geha R.S. WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. Proc Natl Acad Sci U S A. 94:1997;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    Geha, R.S.4
  • 24
    • 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 D.M., Tian L., Nelson D.L. Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein. J Immunol. 162:1999;5019-5024.
    • (1999) J Immunol. , vol.162 , pp. 5019-5024
    • Stewart, D.M.1    Tian, L.2    Nelson, D.L.3
  • 25
    • 0032516877 scopus 로고    scopus 로고
    • The Wiskott-Aldrich syndrome protein-interacting protein (WIP) binds to the adaptor protein Nck
    • Anton I.M., Lu W., Mayer B.J., Ramesh N., Geha R.S. The Wiskott-Aldrich syndrome protein-interacting protein (WIP) binds to the adaptor protein Nck. J Biol Chem. 273:1998;20992-20995.
    • (1998) J Biol Chem. , vol.273 , pp. 20992-20995
    • Anton, I.M.1    Lu, W.2    Mayer, B.J.3    Ramesh, N.4    Geha, R.S.5
  • 26
    • 0031028065 scopus 로고    scopus 로고
    • Thrombopoietin signal transduction in purified murine megakaryocytes
    • Drachman J.G., Sabath D.F., Fox N.E., Kaushansky K. Thrombopoietin signal transduction in purified murine megakaryocytes. Blood. 89:1997;483-492.
    • (1997) Blood. , vol.89 , pp. 483-492
    • Drachman, J.G.1    Sabath, D.F.2    Fox, N.E.3    Kaushansky, K.4
  • 27
    • 0032847451 scopus 로고    scopus 로고
    • Thrombopoietin signal transduction: Studies from cell lines and primary cells
    • Drachman J.G., Rojnuckarin P., Kaushansky K. Thrombopoietin signal transduction. studies from cell lines and primary cells Methods. 17:1999;238-249.
    • (1999) Methods. , vol.17 , pp. 238-249
    • Drachman, J.G.1    Rojnuckarin, P.2    Kaushansky, K.3
  • 28
    • 0033485918 scopus 로고    scopus 로고
    • WASP levels in platelets and lymphocytes of Wiskott-Aldrich syndrome patients correlate with cell dysfunction
    • Shcherbina A., Rosen F.S., Remold-O'Donnell E. WASP levels in platelets and lymphocytes of Wiskott-Aldrich syndrome patients correlate with cell dysfunction. J Immunol. 163:1999;6314-6320.
    • (1999) J Immunol. , vol.163 , pp. 6314-6320
    • Shcherbina, A.1    Rosen, F.S.2    Remold-O'Donnell, E.3
  • 29
    • 0029834737 scopus 로고    scopus 로고
    • Increased levels of megakaryocyte progenitors in peripheral blood mobilised by chemotherapy and/or haemopoietic growth factor protocols
    • Dyson P.G., Jackson K.A., McClure B.J., Rawling T.P., To L.B. Increased levels of megakaryocyte progenitors in peripheral blood mobilised by chemotherapy and/or haemopoietic growth factor protocols. Bone Marrow Transplant. 18:1996;705-712.
    • (1996) Bone Marrow Transplant. , vol.18 , pp. 705-712
    • Dyson, P.G.1    Jackson, K.A.2    McClure, B.J.3    Rawling, T.P.4    To, L.B.5
  • 30
    • 0034052854 scopus 로고    scopus 로고
    • Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
    • Nichols K.E., Crispino J.D., Poncz M.et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 24:2000;266-270.
    • (2000) Nat Genet. , vol.24 , pp. 266-270
    • Nichols, K.E.1    Crispino, J.D.2    Poncz, M.3
  • 31
    • 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. 98:2001;85-92.
    • (2001) Blood. , vol.98 , pp. 85-92
    • Freson, K.1    Devriendt, K.2    Matthijs, G.3
  • 33
    • 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 K.K., Matsushita M., Stamatoyannopoulos G., Orkin S.H., Raskind W.H. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood. 100:2002;2040-2045.
    • (2002) Blood. , vol.100 , pp. 2040-2045
    • Yu, C.1    Niakan, K.K.2    Matsushita, M.3    Stamatoyannopoulos, G.4    Orkin, S.H.5    Raskind, W.H.6
  • 34
    • 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. 94:1999;509-518.
    • (1999) Blood. , vol.94 , pp. 509-518
    • Haddad, E.1    Cramer, E.2    Riviere, C.3
  • 35
    • 0031134088 scopus 로고    scopus 로고
    • Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients
    • Remold-O'Donnell E., Cooley J., Shcherbina A.et al. Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. J Immunol. 158:1997;4021-4025.
    • (1997) J Immunol. , vol.158 , pp. 4021-4025
    • Remold-O'Donnell, E.1    Cooley, J.2    Shcherbina, A.3
  • 36
    • 0032751887 scopus 로고    scopus 로고
    • Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia
    • Thompson L.J., Lalloz M.R., Layton D.M. Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Blood Cells Mol Dis. 25:1999;218-226.
    • (1999) Blood Cells Mol Dis. , vol.25 , pp. 218-226
    • Thompson, L.J.1    Lalloz, M.R.2    Layton, D.M.3
  • 37
    • 0030026729 scopus 로고    scopus 로고
    • Modulation of the phenotypic diversity of sickle cell anemia
    • Steinberg M.H. Modulation of the phenotypic diversity of sickle cell anemia. Hemoglobin. 20:1996;1-19.
    • (1996) Hemoglobin. , vol.20 , pp. 1-19
    • Steinberg, M.H.1
  • 38
    • 0029937671 scopus 로고    scopus 로고
    • Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases
    • Summers K.M. Relationship between genotype and phenotype in monogenic diseases. relevance to polygenic diseases Hum Mutat. 7:1996;283-293.
    • (1996) Hum Mutat. , vol.7 , pp. 283-293
    • Summers, K.M.1


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