A 10-Base-Pair Deletion in the Gene Encoding Platelet Glycoprotein IIb Associated with Glanzmann Thrombasthenia in a Horse
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چکیده
منابع مشابه
Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein
Background—Platelets have been suggested to play a role in the early development of atherosclerosis. As one test of this hypothesis, we assessed whether patients with Glanzmann thrombasthenia who lack platelet glycoprotein IIb 3 (GPIIb/IIIa) complexes or both IIb 3 and the more ubiquitous v 3 cell membrane complexes are protected from development of atherosclerosis. Methods and Results—Seven pa...
متن کاملGlanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene.
Glanzmann's thrombasthenia is a bleeding disorder characterized by a decrease or absence of the functional platelet membrane glycoprotein (GP) complex, GPIIb/IIIa (alpha IIb beta 3). We describe a new deletion-insertion mutation in the GPIIb gene causing type I Glanzmann's thrombasthenia in two siblings of a consanguineous Iranian-Jewish family. The proband's platelets bound more antibodies aga...
متن کاملTherapeutic expression of the platelet-specific integrin, IIb 3, in a murine model for Glanzmann thrombasthenia
Integrins mediate the adhesion of cells to each other and to the extracellular matrix during development, immunity, metastasis, thrombosis, and wound healing. Molecular defects in either the or subunit can disrupt integrin synthesis, assembly, and/or binding to adhesive ligands. This is exemplified by the bleeding disorder, Glanzmann thrombasthenia (GT), where abnormalities of the plateletspeci...
متن کاملGlanzmann thrombasthenia in a compound heterozygote for the α IIb gene . A novel missense
Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by a life-long hemorrhagic tendency and absent or severely reduced platelet aggregation in response to agonists. The thrombasthenic phenotype is associated with quantitative or qualitative abnormalities in the platelet fibrinogen receptor, the αIIbβ3 integrin or glycoprotein (GP) IIb-IIIa, which can also serve as...
متن کاملGlanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.
We studied the defect responsible for Glanzmann thrombasthenia in a patient whose platelets expressed < 5% of the normal amount of GPIIb-IIIa. Genetic and biochemical evidence indicated that the patient's GPIIIa genes were normal. However, DNA analysis revealed the patient homozygous for a G818-->A substitution in her GPIIb genes, resulting in a Gly273-->Asp substitution adjacent to the first G...
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ژورنال
عنوان ژورنال: Journal of Veterinary Internal Medicine
سال: 2007
ISSN: 0891-6640,1939-1676
DOI: 10.1111/j.1939-1676.2007.tb02947.x