메뉴 건너뛰기




Volumn 92, Issue 5, 2007, Pages 698-701

Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia

Author keywords

Fibrinogen receptor; Glanzmann thrombasthenia; Glycoprotein IIb mutations

Indexed keywords

GLYCOPROTEIN IIB; GLYCOPROTEIN IIIA; MESSENGER RNA; ALPHA2 INTEGRIN; BETA3 INTEGRIN; FIBRINOGEN; HYBRID PROTEIN; ITGA2B PROTEIN, HUMAN; ITGB3 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

EID: 34447299176     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.10847     Document Type: Article
Times cited : (10)

References (14)
  • 1
    • 18044376863 scopus 로고    scopus 로고
    • Platelet receptors: Fibrinogen
    • Gresele P, Page C, Fuster V, Vermylen J, eds, Cambridge: Cambridge University Press;
    • Plow EF, Haas TA, Byzova TW. Platelet receptors: fibrinogen. In: Gresele P, Page C, Fuster V, Vermylen J, eds. Platelets in thrombotic and non-thrombotic disorders. Cambridge: Cambridge University Press; 2002. p. 188-203.
    • (2002) Platelets in thrombotic and non-thrombotic disorders , pp. 188-203
    • Plow, E.F.1    Haas, T.A.2    Byzova, T.W.3
  • 2
    • 33646803323 scopus 로고    scopus 로고
    • Inherited abnormalities of the platelet membrane: Glanzmann thrombasthenia, Bernard-Soulier syndrome, and other disorders
    • Colman RW, Marder VJ, Clowes AW, George JN, Goldhaber SZ, ed, Philadelphia: Lippincott
    • Nurden AT, George JN. Inherited abnormalities of the platelet membrane: Glanzmann thrombasthenia, Bernard-Soulier syndrome, and other disorders. In: Colman RW, Marder VJ, Clowes AW, George JN, Goldhaber SZ, ed. Hemostasis and Thrombosis. Philadelphia: Lippincott, 2006. p. 987-1010.
    • (2006) Hemostasis and Thrombosis , pp. 987-1010
    • Nurden, A.T.1    George, J.N.2
  • 3
    • 18844366702 scopus 로고    scopus 로고
    • A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa
    • Losonczy G, Rosenberg N, Kiss C, Kappelmayer J, Vereb G, Kerényi A, et al. A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa. Thromb Haemost 2005;93:904-9.
    • (2005) Thromb Haemost , vol.93 , pp. 904-909
    • Losonczy, G.1    Rosenberg, N.2    Kiss, C.3    Kappelmayer, J.4    Vereb, G.5    Kerényi, A.6
  • 4
    • 85117737839 scopus 로고    scopus 로고
    • Rosenberg N, Yatuv R, Sobolev V, Peretz H, Zivelin A, Seligsohn U. Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus. Blood 2003; 101:4808-15.
    • Rosenberg N, Yatuv R, Sobolev V, Peretz H, Zivelin A, Seligsohn U. Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus. Blood 2003; 101:4808-15.
  • 7
    • 0345004833 scopus 로고    scopus 로고
    • Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: Disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes
    • González-Mancho̧n C, Ferna̧ndez-Pinel M, Arias-Salgado EG, Ferrer M, Alvarez MV, Garcia-Munoz S, et al. Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes. Blood 1999;93:866-75.
    • (1999) Blood , vol.93 , pp. 866-875
    • González-Mancho̧n, C.1    Ferna̧ndez-Pinel, M.2    Arias-Salgado, E.G.3    Ferrer, M.4    Alvarez, M.V.5    Garcia-Munoz, S.6
  • 8
    • 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 1992;79:3212-8.
    • (1992) Blood , vol.79 , pp. 3212-3218
    • Kato, A.1    Yamamoto, K.2    Miyazaki, S.3    Jung, S.M.4    Moroi, M.5    Aoki, N.6
  • 9
    • 0036212986 scopus 로고    scopus 로고
    • Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb(¢597-1008) to form stable complexes with GPIIIa
    • Arias-Salgado EG, Tao J, González-Manchón C, Butta N, Vicente V, Ayuso MS, et al. Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb(¢597-1008) to form stable complexes with GPIIIa. Thromb Haemost 2002;87:684-91.
    • (2002) Thromb Haemost , vol.87 , pp. 684-691
    • Arias-Salgado, E.G.1    Tao, J.2    González-Manchón, C.3    Butta, N.4    Vicente, V.5    Ayuso, M.S.6
  • 11
    • 0026583536 scopus 로고
    • Proteolytic dissection of the isolated platelet fibrinogen receptor, integrin GPIIb/IIIa: Localization of GPIIb and GPIIIa sequences putatively involved in the subunit interface and in intrasubunit and intrachain contacts
    • Calvete JJ, Mann K, Alvarez MV, Lopez MM, Gonzalez-Rodrigues J. Proteolytic dissection of the isolated platelet fibrinogen receptor, integrin GPIIb/IIIa: localization of GPIIb and GPIIIa sequences putatively involved in the subunit interface and in intrasubunit and intrachain contacts. Biochem J 1992;282:523-32.
    • (1992) Biochem J , vol.282 , pp. 523-532
    • Calvete, J.J.1    Mann, K.2    Alvarez, M.V.3    Lopez, M.M.4    Gonzalez-Rodrigues, J.5
  • 12
    • 0037031906 scopus 로고    scopus 로고
    • Global conformational rearrangements in integrin extracellular domains in outside-in and inside-out signaling
    • Takagi J, Petre BM, Walz T, Springer T. Global conformational rearrangements in integrin extracellular domains in outside-in and inside-out signaling. Cell 2002;110:599-611.
    • (2002) Cell , vol.110 , pp. 599-611
    • Takagi, J.1    Petre, B.M.2    Walz, T.3    Springer, T.4
  • 13
    • 0032531431 scopus 로고    scopus 로고
    • A Gln747→Pro substitution in the allb subunit is responsible for a moderate αIIbβ3 deficiency in Glanzmann thrombasthenia
    • Tadokoro S, Tomiyama Y, Honda S, Arai M, Yamamoto M, Shiraga M, et al. A Gln747→Pro substitution in the allb subunit is responsible for a moderate αIIbβ3 deficiency in Glanzmann thrombasthenia. Blood 1998;92:2750-8.
    • (1998) Blood , vol.92 , pp. 2750-2758
    • Tadokoro, S.1    Tomiyama, Y.2    Honda, S.3    Arai, M.4    Yamamoto, M.5    Shiraga, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.