Structural Analysis of Four Newly Identified Extracellular Membrane-Proximal Missense Mutations in Patients with Glanzmann Thrombasthenia
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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 thrombasthenia
Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. The molecular basis is linked to quantitative and/or qualitative abnormalities of alphaIIb beta3 integrin. This receptor mediates the binding of adhesive proteins that attach aggregating platelets and ensure thrombus formation at si...
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Introduction: Abortion is a common complication that refers to the early termination of pregnancy with the death of the fetus before the 20th week of pregnancy. Previous studies show that many genes are involved in this disease, including the CX3CR1 gene, which is one of the inflammatory response genes in the immune system. The pathogenicity of these variants was determined in this study using ...
متن کاملGlanzmann thrombasthenia in a neonate.
Glanzmann thrombasthenia is a qualitative platelet function disorder manifested by skin bleeds, epistaxis, gingival bleeding, gastrointestinal hemorrhage, hematuria, hemarthrosis, intracranial hemorrhage and visceral hematomas. We report a six day old newborn presenting with hematuria following suprapubic aspiration, who was diagnosed as Glanzmann thrombasthenia. We believe it to be the younges...
متن کاملExcessive gingival bleeding in two patients with Glanzmann thrombasthenia.
BACKGROUND Glanzmann thrombasthenia (GT) is an exceedingly rare but well-defined inherited disorder of platelet function caused by a defect in the glycoprotein IIb/IIIa complex. The association of GT with consanguinity has been noted, especially in geographic regions in which intermarriage is common. In most patients, GT is diagnosed during early infancy or before the age of 5 years. Common man...
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ژورنال
عنوان ژورنال: Blood
سال: 2014
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v124.21.1452.1452