Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the α IIb β 3 integrin (original) (raw)

A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg214Trp mutation

Miguel Morales

Journal of Clinical Investigation, 1992

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Two human antibodies reacting with different epitopes on integrin beta3 of platelets and endothelial cells

A. Nurden, Maribel Díaz-Ricart

European Journal of Biochemistry, 1994

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Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients

Xavier Pillois

Haemophilia, 2012

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Monoclonal Antibodies to Platelet Glycoprotein IIb/IIIa as Antithrombotic Agentsa

Harvey Berger, Harlan Weisman

Annals of the New York Academy of Sciences, 1991

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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 IIb and/or IIIa

Ellinor Peerschke

Journal of Clinical Investigation, 1983

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Critical Residues of Integrin αIIb Subunit for Binding of αIIbβ3 (Glycoprotein IIb-IIIa) to Fibrinogen and Ligand-mimetic Antibodies (PAC-1, OP-G2, and LJ-CP3)

yoshikazu takada

Journal of Biological Chemistry, 1996

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A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (αIIbβ3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia–like phenotype

Peter Newman

2001

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Truncation of the Cytoplasmic Domain of b 3 in a Variant Form of Glanzmann Thrombasthenia Abrogates Signaling through the Integrin a IIb b 3 Complex

Peter Newman

2013

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Decreased stability and structural heterogeneity of the residual platelet glycoprotein IIb/IIIa complex in a variant of Glanzmann's thrombasthenia

Marie-Christine Kopp

British Journal of Haematology, 1989

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Therapeutic expression of the platelet-specific integrin, IIb 3, in a murine model for Glanzmann thrombasthenia

Richard Hynes

Blood, 2005

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

János Kappelmayer

Haematologica, 2007

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Variant type Glanzmann thrombasthenia caused by homozygous p.724R>X mutation in β3 integrin

László Muszbek

Thrombosis Research, 2010

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Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex

Peter Newman

Journal of Clinical Investigation, 1997

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Dissociation between fibrinogen and fibrin interaction with platelets in patients with different subtypes of Glanzmann's thrombasthenia: studies in an ex vivo perfusion chamber model

Ludovic Drouet

British Journal of Haematology, 2002

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Antiplatelet antibodies in cases of Glanzmann′s thrombasthenia with and without a history of multiple platelet transfusion

Kanjaksha Ghosh

Indian Journal of Human Genetics, 2009

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Unique Pathway of Thrombin-induced Platelet Aggregation Mediated by Glycoprotein Ib

Gerald Soslau

Carolina Digital Repository (University of North Carolina at Chapel Hill), 2001

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A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia

Peter Newman

Journal of Clinical Investigation, 1991

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Anti–β2-glycoprotein I antibodies in complex with β2-glycoprotein I can activate platelets in a dysregulated manner via glycoprotein Ib-IX-V

Steven Krilis

Arthritis & Rheumatism, 2006

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The glycoprotein Ib complex of human blood platelets

Kenneth Clemetson

European Journal of Biochemistry, 1987

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Detection of the Leu40Arg variant of the platelet glycoprotein IIb/IIIa receptor in subjects with thrombotic diseases

Gyula Mózsik

Thrombosis Research, 2005

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Expression and Purification of a Soluble Functional form of the Platelet alphaIIbbeta3 Integrin

Alain Duperray

European Journal of Biochemistry, 1995

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Further characterization of the thrombasthenia-related idiotype OG. Antiidiotype defines a novel epitope(s) shared by fibrinogen B beta chain, vitronectin, and von Willebrand factor and required for binding to beta 3

Diane J Nugent

Journal of Experimental Medicine, 1994

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Use of monoclonal antibodies to study the interaction between an integrin adhesion receptor, GP IIb-IIIa, and its physiological ligand, fibrinogen

John Weisel

ImmunoMethods, 1992

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A monoclonal anti-platelet antibody with decreased reactivity for autoimmune thrombocytopenic platelets

David Varon

Proceedings of the National Academy of Sciences, 1983

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Immunodiagnosis of platelet activation in immune thrombocytopenia through scFv antibodies cognate to activated IIb3 integrins

preeti bhoria

mAbs, 2015

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A variant thrombasthenic phenotype associated with compound heterozygosity of integrin β3-subunit: (Met124Val)β3 alters the subunit dimerization rendering a decreased number of constitutive active αIIbβ3 receptors

N. Butta

Thrombosis and Haemostasis, 2004

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