메뉴 건너뛰기




Volumn 20, Issue 1, 1998, Pages 69-73

Giant platelets with abnormal surface glycoproteins: A new familial disorder associated with mitral valve insufficiency

Author keywords

Integrins; Thrombocytopenia

Indexed keywords

ARTICLE; BLEEDING DISORDER; BLEEDING TIME; CASE REPORT; CELL SIZE; CHILD; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; HUMAN; IMMUNOBLOTTING; MALE; MITRAL VALVE REGURGITATION; PRIORITY JOURNAL; SYNDROME DELINEATION; THROMBOCYTE; THROMBOCYTE AGGLUTINATION; THROMBOCYTE AGGREGATION; THROMBOCYTOPATHY; THROMBOCYTOPENIA;

EID: 0031910488     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/00043426-199801000-00011     Document Type: Article
Times cited : (11)

References (27)
  • 1
    • 0015404446 scopus 로고
    • The increased percentage of megathrombocytes in various clinical disorders
    • Garg SK, Lackner H, Karpatkin S. The increased percentage of megathrombocytes in various clinical disorders. Ann Intern Med 1972;77:361-9.
    • (1972) Ann Intern Med , vol.77 , pp. 361-369
    • Garg, S.K.1    Lackner, H.2    Karpatkin, S.3
  • 2
    • 0020008173 scopus 로고
    • Human platelet size, shape and related functions in health and disease
    • Frojmovic MM, Milton JG. Human platelet size, shape and related functions in health and disease. Physiol Rev 1982;62:185-261.
    • (1982) Physiol Rev , vol.62 , pp. 185-261
    • Frojmovic, M.M.1    Milton, J.G.2
  • 3
    • 0018341219 scopus 로고
    • Shape-changing agents produce abnormally large platelets in a hereditary "giant platelets syndrome (MPS)."
    • Milton JG, Frojmovic MM. Shape-changing agents produce abnormally large platelets in a hereditary "giant platelets syndrome (MPS)." J Lab Clin Med 1979;93:154-61.
    • (1979) J Lab Clin Med , vol.93 , pp. 154-161
    • Milton, J.G.1    Frojmovic, M.M.2
  • 4
    • 0016782782 scopus 로고
    • Mediterranean macrothrombocytopenia
    • von Behrens WE. Mediterranean macrothrombocytopenia. Blood 1975;46:199-208.
    • (1975) Blood , vol.46 , pp. 199-208
    • Von Behrens, W.E.1
  • 5
    • 0019973882 scopus 로고
    • Characterization of the platelet membrane glycoprotein abnormalities in Bernard-Soulier syndrome and comparison with normal by surface-labeling techniques and high-resolution two-dimensional gel electrophoresis
    • Clemetson KJ, McGregor JL, James E, et al. Characterization of the platelet membrane glycoprotein abnormalities in Bernard-Soulier syndrome and comparison with normal by surface-labeling techniques and high-resolution two-dimensional gel electrophoresis. J Clin Invest 1982;70:304-11.
    • (1982) J Clin Invest , vol.70 , pp. 304-311
    • Clemetson, K.J.1    McGregor, J.L.2    James, E.3
  • 6
    • 0024688920 scopus 로고
    • GP Ib and Bernard-Soulier platelets
    • Nurden AT, Jallu V, Hourdille P. GP Ib and Bernard-Soulier platelets. Blood 1989;73:2225-7.
    • (1989) Blood , vol.73 , pp. 2225-2227
    • Nurden, A.T.1    Jallu, V.2    Hourdille, P.3
  • 7
    • 0021687476 scopus 로고
    • Platelet membrane glycoprotein IIIa contains target antigens that bind anti-platelet antibodies in immune thrombocytopenias
    • Beardsley DS, Spiegel JE, Jacobs MM, et al. Platelet membrane glycoprotein IIIa contains target antigens that bind anti-platelet antibodies in immune thrombocytopenias. J Clin Invest 1984;74:1701.
    • (1984) J Clin Invest , vol.74 , pp. 1701
    • Beardsley, D.S.1    Spiegel, J.E.2    Jacobs, M.M.3
  • 8
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during the assembly of the head of bacteriophage T4
    • Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970;227:680-5.
    • (1970) Nature , vol.227 , pp. 680-685
    • Laemmli, U.K.1
  • 9
    • 0017350087 scopus 로고
    • Platelet plasma membrane glycoproteins: Evidence for the presence of nonequivalent disulfide bonds using nonreduced-reduced two-dimensional gel electrophoresis
    • Phillips DR, Agin PP. Platelet plasma membrane glycoproteins: Evidence for the presence of nonequivalent disulfide bonds using nonreduced-reduced two-dimensional gel electrophoresis. J Biol Chem 1977;252:2121-6.
    • (1977) J Biol Chem , vol.252 , pp. 2121-2126
    • Phillips, D.R.1    Agin, P.P.2
  • 10
    • 0009482260 scopus 로고
    • Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications
    • Towbin HT, Staebelin T, Gordon J. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc Natl Acad Sci USA 1979;76:43-50.
    • (1979) Proc Natl Acad Sci USA , vol.76 , pp. 43-50
    • Towbin, H.T.1    Staebelin, T.2    Gordon, J.3
  • 12
    • 0019442921 scopus 로고
    • Platelet membrane studies in the May-Hegglin anomaly
    • Coller BS, Zarrabi MH. Platelet membrane studies in the May-Hegglin anomaly. Blood 1981;58:279-84.
    • (1981) Blood , vol.58 , pp. 279-284
    • Coller, B.S.1    Zarrabi, M.H.2
  • 13
    • 0014381858 scopus 로고
    • Observations on platelet ultrastructure in familial thrombocytopathic thrombocytopenia
    • Vossen MEMH, Stadhouders AM, Kurstjens R, et al. Observations on platelet ultrastructure in familial thrombocytopathic thrombocytopenia. Am J Pathol 1968;53:1021-39.
    • (1968) Am J Pathol , vol.53 , pp. 1021-1039
    • Vossen, M.E.M.H.1    Stadhouders, A.M.2    Kurstjens, R.3
  • 14
    • 0014328182 scopus 로고
    • Familial thrombopathic thrombocytopenia
    • Kurstjens R, Bolt C, Vossen M, et al. Familial thrombopathic thrombocytopenia. Br J Haematol 1968;15:305-16.
    • (1968) Br J Haematol , vol.15 , pp. 305-316
    • Kurstjens, R.1    Bolt, C.2    Vossen, M.3
  • 15
    • 0028171639 scopus 로고
    • Cys209 Ser mutation in the platelet membrane glycoprotein Ibα gene is associated with Bernard-Soulier syndrome
    • Simsek S, Noris P, Lozano M, et al. Cys209 Ser mutation in the platelet membrane glycoprotein Ibα gene is associated with Bernard-Soulier syndrome. Br J Haematol 1994;88:839-44.
    • (1994) Br J Haematol , vol.88 , pp. 839-844
    • Simsek, S.1    Noris, P.2    Lozano, M.3
  • 16
    • 0028785277 scopus 로고
    • The genetic defect in two well-studied cases of Bernard-Soulier syndrome: A point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ibα
    • Li C, Martin SE, Roth GJ. The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ibα. Blood 1995;86: 3805-14.
    • (1995) Blood , vol.86 , pp. 3805-3814
    • Li, C.1    Martin, S.E.2    Roth, G.J.3
  • 17
    • 0028061263 scopus 로고
    • Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibα causing Bernard-Soulier syndrome
    • Simsek S, Admiraal LG, Modderman PW, et al. Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibα causing Bernard-Soulier syndrome. Thromb Haemost 1994;72:444-9.
    • (1994) Thromb Haemost , vol.72 , pp. 444-449
    • Simsek, S.1    Admiraal, L.G.2    Modderman, P.W.3
  • 18
    • 0023574858 scopus 로고
    • Gray platelet syndrome: Demonstration of alpha granule membranes that can fuse with the cell surface
    • Rosa J-P, George JN, Bainton DF, et al. Gray platelet syndrome: demonstration of alpha granule membranes that can fuse with the cell surface. J Clin Invest 1987;80:1138-46.
    • (1987) J Clin Invest , vol.80 , pp. 1138-1146
    • Rosa, J.-P.1    George, J.N.2    Bainton, D.F.3
  • 19
    • 0015743503 scopus 로고
    • Thrombasthenic-thrombopathic thrombocytopenia with giant, "swiss-cheese" platelets
    • Smith TP, Dodds WJ, Tartaglia P. Thrombasthenic-thrombopathic thrombocytopenia with giant, "swiss-cheese" platelets. Ann Intern Med 1973;79:828-33.
    • (1973) Ann Intern Med , vol.79 , pp. 828-833
    • Smith, T.P.1    Dodds, W.J.2    Tartaglia, P.3
  • 20
    • 0015304377 scopus 로고
    • Hereditary macrothrombocytopathia, nephritis and deafness
    • Epstein CJ, Sahud MA, Piel CF, et al. Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med 1972;52:299-310.
    • (1972) Am J Med , vol.52 , pp. 299-310
    • Epstein, C.J.1    Sahud, M.A.2    Piel, C.F.3
  • 21
    • 0021956321 scopus 로고
    • Fechmer syndrome-a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia
    • Peterson LC, Rao KV, Crosson JT, et al. Fechmer syndrome-a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 1985;65:397-406.
    • (1985) Blood , vol.65 , pp. 397-406
    • Peterson, L.C.1    Rao, K.V.2    Crosson, J.T.3
  • 22
    • 0023733193 scopus 로고
    • Fechtner syndrome: Clinical and genetic aspects
    • Gershoni-Baruch R, Baruch Y, Viener A, et al. Fechtner syndrome: clinical and genetic aspects. Am J Med Genet 1988;31:357-67.
    • (1988) Am J Med Genet , vol.31 , pp. 357-367
    • Gershoni-Baruch, R.1    Baruch, Y.2    Viener, A.3
  • 24
    • 0023226894 scopus 로고
    • A new familial "giant platelet syndrome" with structural, metabolic and functional abnormalities of platelets due to a primary megakaryocyte defect
    • Greaves M, Pickering C, Martin J, et al. A new familial "giant platelet syndrome" with structural, metabolic and functional abnormalities of platelets due to a primary megakaryocyte defect. Br J Haematol 1987;65:429-35.
    • (1987) Br J Haematol , vol.65 , pp. 429-435
    • Greaves, M.1    Pickering, C.2    Martin, J.3
  • 25
    • 0029063428 scopus 로고
    • The Sebastian platelet syndrome. Report of the first native Saudi Arabian patient
    • Khalil SH, Qari MH. The Sebastian platelet syndrome. Report of the first native Saudi Arabian patient. Pathology 1995;27:197-8.
    • (1995) Pathology , vol.27 , pp. 197-198
    • Khalil, S.H.1    Qari, M.H.2
  • 26
  • 27
    • 0016506243 scopus 로고
    • Hereditary thrombocytopenia,deafness, and renal disease
    • Eckstein JD, Filip DJ, Watts JC. Hereditary thrombocytopenia,deafness, and renal disease. Ann Intern Med 1975;82:639-45.
    • (1975) Ann Intern Med , vol.82 , pp. 639-645
    • Eckstein, J.D.1    Filip, D.J.2    Watts, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.