메뉴 건너뛰기




Volumn 88, Issue 5, 1996, Pages 1666-1675

A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (β3) in a Chinese patient with Glanzmann's thrombasthenia

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; ADRENALIN; COLLAGEN; CYSTEINE; FIBRINOGEN RECEPTOR; GLYCOPROTEIN IIB; GLYCOPROTEIN IIIA; TYROSINE; VITRONECTIN;

EID: 0029794830     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v88.5.1666.bloodjournal8851666     Document Type: Article
Times cited : (43)

References (64)
  • 1
    • 0022502048 scopus 로고
    • Platelet membrane glycoprotein IIb/IIIa: Member of a family of Arg-Gly-Asp-specific adhesion receptors
    • Pytela R, Pierschbacher MD, Ginsberg MH, Plow EF, Ruoslahti E: Platelet membrane glycoprotein IIb/IIIa: Member of a family of Arg-Gly-Asp-specific adhesion receptors. Science 231:1559, 1986
    • (1986) Science , vol.231 , pp. 1559
    • Pytela, R.1    Pierschbacher, M.D.2    Ginsberg, M.H.3    Plow, E.F.4    Ruoslahti, E.5
  • 3
    • 0026356066 scopus 로고
    • The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel
    • Newman PJ, Seligsohn U, Lyman S, Coller BS: The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc Natl Acad Sci USA 88:3160, 1991
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 3160
    • Newman, P.J.1    Seligsohn, U.2    Lyman, S.3    Coller, B.S.4
  • 4
    • 0026035227 scopus 로고
    • A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia
    • Burk CD, Newman PJ, Lyman S, Gill J, Coller BS, Poncz, M: A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. J Clin Invest 87:270, 1991
    • (1991) J Clin Invest , vol.87 , pp. 270
    • Burk, C.D.1    Newman, P.J.2    Lyman, S.3    Gill, J.4    Coller, B.S.5    Poncz, M.6
  • 5
    • 0027437275 scopus 로고
    • Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia
    • Li L, Bray PF: Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia. Am J Hum Genet 53:140, 1993
    • (1993) Am J Hum Genet , vol.53 , pp. 140
    • Li, L.1    Bray, P.F.2
  • 8
    • 0028936301 scopus 로고
    • Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein lib gene
    • Peretz H, Rosenberg N, Usher S, Graff E, Newman PJ, Coller BS, Seligsohn U: Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein lib gene. Blood 85:414, 1995
    • (1995) Blood , vol.85 , pp. 414
    • Peretz, H.1    Rosenberg, N.2    Usher, S.3    Graff, E.4    Newman, P.J.5    Coller, B.S.6    Seligsohn, U.7
  • 10
    • 0342387848 scopus 로고
    • 3 complex in a variant type of Glanzmann thrombasthenia
    • abstr
    • 3 complex in a variant type of Glanzmann thrombasthenia. Blood 84:244a, 1994 (abstr, suppl 1)
    • (1994) Blood , vol.84 , Issue.1 SUPPL.
    • Wang, R.1    Ambruso, D.R.2    Newman, P.J.3
  • 15
    • 0027499394 scopus 로고
    • Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA
    • Simsek S, Heyboer H, de Bruijne-Admiraal LG, Goldschmeding R, Cuijpers HThM, von dem Borne AEGKr: Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA. Blood 81:2044, 1993
    • (1993) Blood , vol.81 , pp. 2044
    • Simsek, S.1    Heyboer, H.2    De Bruijne-Admiraal, L.G.3    Goldschmeding, R.4    Cuijpers, H.Th.M.5    Von Dem Borne, A.E.G.Kr.6
  • 17
    • 0027367949 scopus 로고
    • Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa
    • Jin Y, Dietz HC, Nurden A, Bray PF: Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa. Blood 82:2281, 1993
    • (1993) Blood , vol.82 , pp. 2281
    • Jin, Y.1    Dietz, H.C.2    Nurden, A.3    Bray, P.F.4
  • 18
    • 0000650163 scopus 로고
    • Type II Glanzmann thrombasthenia due to a destabilizing amino acid substitution in platelet membrane glycoprotein IIIa
    • abstr
    • Newman PJ, Weyerbusch-Bottum S, Visentin GP, Gidwitz S, White GC II: Type II Glanzmann thrombasthenia due to a destabilizing amino acid substitution in platelet membrane glycoprotein IIIa. Thromb Haemost 69:1017, 1993 (abstr)
    • (1993) Thromb Haemost , vol.69 , pp. 1017
    • Newman, P.J.1    Weyerbusch-Bottum, S.2    Visentin, G.P.3    Gidwitz, S.4    White II, G.C.5
  • 20
    • 0342387848 scopus 로고
    • A two base deletion in exon 4 of the PI allelic form of GPIIIa: Implications for the correlation of serologic versus genotypic analysis of human platelet alloantigens
    • abstr
    • Skogen B, Wang R, McFarland JG, Newman PJ: A two base deletion in exon 4 of the PI allelic form of GPIIIa: Implications for the correlation of serologic versus genotypic analysis of human platelet alloantigens. Blood 84:244a, 1994 (abstr, suppl 1)
    • (1994) Blood , vol.84 , Issue.1 SUPPL.
    • Skogen, B.1    Wang, R.2    McFarland, J.G.3    Newman, P.J.4
  • 21
    • 0026711020 scopus 로고
    • Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: A proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex
    • Kato A, Yamamoto K, Miyazaki S, Jung SM, Moroi M, Aoki N: Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: A proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex. Blood 79:3212, 1992
    • (1992) Blood , vol.79 , pp. 3212
    • Kato, A.1    Yamamoto, K.2    Miyazaki, S.3    Jung, S.M.4    Moroi, M.5    Aoki, N.6
  • 22
    • 0027447751 scopus 로고
    • Identification of a nonsense mutation at amino acid 584-Arginine of platelet glycoprotein lib in patients with type I Glanzmann thrombasthenia
    • Gu JM, Xu WF, Wang XD, Wu QY, Chi CW, Ruan CG: Identification of a nonsense mutation at amino acid 584-Arginine of platelet glycoprotein lib in patients with type I Glanzmann thrombasthenia. Br J Haemotol 83:442, 1993
    • (1993) Br J Haemotol , vol.83 , pp. 442
    • Gu, J.M.1    Xu, W.F.2    Wang, X.D.3    Wu, Q.Y.4    Chi, C.W.5    Ruan, C.G.6
  • 23
    • 0028117258 scopus 로고
    • An exon 28 mutation resulting in alternative splicing of the glycoprotein lib transcript and Glanzmann's thrombasthenia
    • Iwamoto S, Nishiumi E, Kajii E, Ikemoto S: An exon 28 mutation resulting in alternative splicing of the glycoprotein lib transcript and Glanzmann's thrombasthenia. Blood 83:1017, 1994
    • (1994) Blood , vol.83 , pp. 1017
    • Iwamoto, S.1    Nishiumi, E.2    Kajii, E.3    Ikemoto, S.4
  • 24
    • 0028123329 scopus 로고
    • Glanzmann thrombasthenia secondary to a Gly273 Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb
    • Poncz M, Rifat S, Coller BS, Newman PJ, Shattil SJ, Parrella T, Fortina P, Bennett JS: Glanzmann thrombasthenia secondary to a Gly273 Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. J Clin Invest 93:172, 1994
    • (1994) J Clin Invest , vol.93 , pp. 172
    • Poncz, M.1    Rifat, S.2    Coller, B.S.3    Newman, P.J.4    Shattil, S.J.5    Parrella, T.6    Fortina, P.7    Bennett, J.S.8
  • 26
    • 0028951764 scopus 로고
    • Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb
    • Wilcox DA, Paddock CM, Lyman S, Gill JC, Newman PJ: Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. J Clin Invest 95:1553, 1995
    • (1995) J Clin Invest , vol.95 , pp. 1553
    • Wilcox, D.A.1    Paddock, C.M.2    Lyman, S.3    Gill, J.C.4    Newman, P.J.5
  • 27
    • 0029071549 scopus 로고
    • Abnormal processing of the glycoprotein lib transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia
    • Tomiyama Y, Kashiwagi H, Kosugi S, Shiraga M, Kanayama Y, Kurata Y, Matsuzawa Y: Abnormal processing of the glycoprotein lib transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia. Thromb Haemost 73:756, 1995
    • (1995) Thromb Haemost , vol.73 , pp. 756
    • Tomiyama, Y.1    Kashiwagi, H.2    Kosugi, S.3    Shiraga, M.4    Kanayama, Y.5    Kurata, Y.6    Matsuzawa, Y.7
  • 28
    • 0342599549 scopus 로고
    • Glanzmann thrombasthenia due to a glycoprotein IIb missense mutation Leu214Pro
    • abstr
    • Chen FP, Coller BS, Weiss HJ, Xu L-Z, French DL: Glanzmann thrombasthenia due to a glycoprotein IIb missense mutation Leu214Pro. Thromb Haemost 73:1191, 1995 (abstr)
    • (1995) Thromb Haemost , vol.73 , pp. 1191
    • Chen, F.P.1    Coller, B.S.2    Weiss, H.J.3    Xu, L.-Z.4    French, D.L.5
  • 32
    • 0023189463 scopus 로고
    • Protein sequence of endothelial glycoprotein IIIa derived from a cDNA clone. Identity with platelet glycoprotein IIIa and similarity to "integrin."
    • Fitzgerald LA, Steiner B, Rail SC, Lo S-s, Phillips DR: Protein sequence of endothelial glycoprotein IIIa derived from a cDNA clone. Identity with platelet glycoprotein IIIa and similarity to "integrin." J Biol Chem 262:3936, 1987
    • (1987) J Biol Chem , vol.262 , pp. 3936
    • Fitzgerald, L.A.1    Steiner, B.2    Rail, S.C.3    Lo, S.-S.4    Phillips, D.R.5
  • 33
    • 0020692503 scopus 로고
    • Studies with a murine monoclonal antibody that abolishes ristocetin-induced binding of von Willebrand factor to platelets: Additional evidence in support of GPIb as a platelet receptor for von Willebrand factor
    • Coller BS, Peerschke EI, Scudder LE, Sullivan CA: Studies with a murine monoclonal antibody that abolishes ristocetin-induced binding of von Willebrand factor to platelets: Additional evidence in support of GPIb as a platelet receptor for von Willebrand factor. Blood 61:99, 1983
    • (1983) Blood , vol.61 , pp. 99
    • Coller, B.S.1    Peerschke, E.I.2    Scudder, L.E.3    Sullivan, C.A.4
  • 34
    • 0020619733 scopus 로고
    • A murine monoclonal antibody that completely blocks the binding of fibrinogen to platelets produces a thrombasthenic-like state in normal platelets and binds to glycoproteins GPIIb and/or GPIIIa
    • Coller BS, Peerschke EI, Scudder LE, Sullivan CA: A murine monoclonal antibody that completely blocks the binding of fibrinogen to platelets produces a thrombasthenic-like state in normal platelets and binds to glycoproteins GPIIb and/or GPIIIa. J Clin Invest 72:325, 1983
    • (1983) J Clin Invest , vol.72 , pp. 325
    • Coller, B.S.1    Peerschke, E.I.2    Scudder, L.E.3    Sullivan, C.A.4
  • 35
    • 0021965983 scopus 로고
    • A new murine monoclonal antibody reports an activation-dependent change in the conformation and/or microenvironment of the platelet GPIIb/IIIa complex
    • Coller BS: A new murine monoclonal antibody reports an activation-dependent change in the conformation and/or microenvironment of the platelet GPIIb/IIIa complex. J Clin Invest 76:101, 1985
    • (1985) J Clin Invest , vol.76 , pp. 101
    • Coller, B.S.1
  • 36
    • 0023612102 scopus 로고
    • Biosynthetic and functional properties of an Arg-Gly-Asp-directed receptor involved in human melanoma cell attachment to vitronectin, fibrinogen, and von Willebrand factor
    • Cheresh DA, Spiro RC: Biosynthetic and functional properties of an Arg-Gly-Asp-directed receptor involved in human melanoma cell attachment to vitronectin, fibrinogen, and von Willebrand factor. J Biol Chem 262:17703, 1987
    • (1987) J Biol Chem , vol.262 , pp. 17703
    • Cheresh, D.A.1    Spiro, R.C.2
  • 37
    • 0026024976 scopus 로고
    • Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann thrombasthenia in Israel
    • Coller BS, Cheresh DA, Asch E, Seligsohn U: Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann thrombasthenia in Israel. Blood 77:75, 1991
    • (1991) Blood , vol.77 , pp. 75
    • Coller, B.S.1    Cheresh, D.A.2    Asch, E.3    Seligsohn, U.4
  • 38
    • 0023234277 scopus 로고
    • Type I Glanzmann thrombasthenia patients from the Iraqi-Jewish and Arab populations in Israel can be differentiated by platelet glycoprotein IIIa immunoblot analysis
    • Coller BS, Seligsohn U, Little PA: Type I Glanzmann thrombasthenia patients from the Iraqi-Jewish and Arab populations in Israel can be differentiated by platelet glycoprotein IIIa immunoblot analysis. Blood 69:1696, 1987
    • (1987) Blood , vol.69 , pp. 1696
    • Coller, B.S.1    Seligsohn, U.2    Little, P.A.3
  • 39
    • 0028643611 scopus 로고
    • Partial inhibition of platelet aggregation and fibrinogen binding by a murine monoclonal antibody to GPIIIa: Requirement for antibody bivalency
    • Kutok JL, Coller BS: Partial inhibition of platelet aggregation and fibrinogen binding by a murine monoclonal antibody to GPIIIa: Requirement for antibody bivalency. Thromb Haemost 72:964, 1994
    • (1994) Thromb Haemost , vol.72 , pp. 964
    • Kutok, J.L.1    Coller, B.S.2
  • 40
    • 0024359032 scopus 로고
    • Evidence that platelet glycoprotein IIIa has a large disulfide-bonded loop that is susceptible to proteolytic cleavage
    • Beer J, Coller BS: Evidence that platelet glycoprotein IIIa has a large disulfide-bonded loop that is susceptible to proteolytic cleavage. J Biol Chem 264:15564, 1989
    • (1989) J Biol Chem , vol.264 , pp. 15564
    • Beer, J.1    Coller, B.S.2
  • 41
    • 0021684626 scopus 로고
    • Platelet-collagen adhesion: Inhibition by a monoclonal antibody that binds glycoprotein IIb
    • Shadle PJ, Ginsberg MH, Plow EF, Barondes SH: Platelet-collagen adhesion: Inhibition by a monoclonal antibody that binds glycoprotein IIb. J Cell Biol 99:2056, 1984
    • (1984) J Cell Biol , vol.99 , pp. 2056
    • Shadle, P.J.1    Ginsberg, M.H.2    Plow, E.F.3    Barondes, S.H.4
  • 42
    • 0024208260 scopus 로고
    • Occupancy of an adhesion glycoprotein receptor modulates expression of an antigenic site involved in cell adhesion
    • Frelinger AL III, Lam SC, Plow EF, Smith MA, Loftus JC, Ginsberg MH: Occupancy of an adhesion glycoprotein receptor modulates expression of an antigenic site involved in cell adhesion. J Biol Chem 263:12397, 1988
    • (1988) J Biol Chem , vol.263 , pp. 12397
    • Frelinger III, A.L.1    Lam, S.C.2    Plow, E.F.3    Smith, M.A.4    Loftus, J.C.5    Ginsberg, M.H.6
  • 44
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyante-phenol-chloroform extraction
    • Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyante-phenol-chloroform extraction. Anal Biochem 162:156, 1987
    • (1987) Anal Biochem , vol.162 , pp. 156
    • Chomczynski, P.1    Sacchi, N.2
  • 45
    • 0015834582 scopus 로고
    • Isolation of highmolecular-weight DNA from mammalian cells
    • Gross-Bellard M, Oudet P, Chambon P: Isolation of highmolecular-weight DNA from mammalian cells. Eur J Biochem 36:32, 1973
    • (1973) Eur J Biochem , vol.36 , pp. 32
    • Gross-Bellard, M.1    Oudet, P.2    Chambon, P.3
  • 47
    • 0023684064 scopus 로고
    • A general method of in vitro preparation and specific mutagenesis of DNA fragments: Study of protein and DNA interactions
    • Higuchi R, Krummel B, Saiki RK: A general method of in vitro preparation and specific mutagenesis of DNA fragments: Study of protein and DNA interactions. Nucleic Acids Res 16:7351, 1988
    • (1988) Nucleic Acids Res , vol.16 , pp. 7351
    • Higuchi, R.1    Krummel, B.2    Saiki, R.K.3
  • 50
    • 0026529029 scopus 로고
    • Platelet α-granular fibrinogen
    • Harrison P: Platelet α-granular fibrinogen. Platelets 3:1, 1992
    • (1992) Platelets , vol.3 , pp. 1
    • Harrison, P.1
  • 54
    • 0026584271 scopus 로고
    • Protein folding in the cell
    • Gething M-J, Sambrook J: Protein folding in the cell. Nature 355:33, 1992
    • (1992) Nature , vol.355 , pp. 33
    • Gething, M.-J.1    Sambrook, J.2
  • 55
  • 56
    • 0026035170 scopus 로고
    • Assignment of disulphide bond in human platelet GPIIIa. A disulfide pattern for the β-subunits of the integrin family
    • Calvete JJ, Henschen A, Gonzalez-Rodriguez J: Assignment of disulphide bond in human platelet GPIIIa. A disulfide pattern for the β-subunits of the integrin family. Biochem J 273:63, 1991
    • (1991) Biochem J , vol.273 , pp. 63
    • Calvete, J.J.1    Henschen, A.2    Gonzalez-Rodriguez, J.3
  • 57
    • 0023666065 scopus 로고
    • Integrins, a family of cell surface receptors
    • Hynes RO: Integrins, a family of cell surface receptors. Cell 48:549, 1987
    • (1987) Cell , vol.48 , pp. 549
    • Hynes, R.O.1
  • 59
    • 0025186078 scopus 로고
    • Platelet α-granule fibrinogen, albumin, and immunoglobulin G are not synthesized by rat and mouse megakaryocytes
    • Handagama P, Rappolee DA, Werb Z, Levin J, Bainton DF: Platelet α-granule fibrinogen, albumin, and immunoglobulin G are not synthesized by rat and mouse megakaryocytes. J Clin Invest 86:1364, 1990
    • (1990) J Clin Invest , vol.86 , pp. 1364
    • Handagama, P.1    Rappolee, D.A.2    Werb, Z.3    Levin, J.4    Bainton, D.F.5
  • 61
    • 0025164791 scopus 로고
    • Plasma membrane GPIIb/IIIa. Evidence for a cycling receptor pool
    • Wencel-Drake, JD: Plasma membrane GPIIb/IIIa. Evidence for a cycling receptor pool. Am J Pathol 136:61, 1990
    • (1990) Am J Pathol , vol.136 , pp. 61
    • Wencel-Drake, J.D.1
  • 63
    • 85088331095 scopus 로고
    • A1 epitope and GPIIb-IIIa complex formation
    • abstr
    • A1 epitope and GPIIb-IIIa complex formation. Blood 82:210a, 1993 (abstr, suppl 1)
    • (1993) Blood , vol.82 , Issue.1 SUPPL.
    • Valentin, N.1    Wilcox, D.A.2    Newman, P.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.