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   Articles with "glanzmann thrombasthenia" as a keyword



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In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia

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recommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.365

Abstract: Studies on the inherited bleeding disorder, Glanzmann thrombasthenia (GT), have helped define the role of the αIIbβ3 integrin in platelet aggregation. Stable bent αIIbβ3 undergoes conformation changes on activation allowing fibrinogen binding and its taking… read more here.

Keywords: glanzmann thrombasthenia; silico analysis; iib genu; iib ... See more keywords
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Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann’s thrombasthenia living in Eastern Turkey

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recommendations! Published in 2020 at "Platelets"

DOI: 10.1080/09537104.2020.1732331

Abstract: Abstract Glanzmann’s thrombasthenia (GT) is an autosomal recessive disorder in which the underlying problem is the lack or dysfunction of the GpIIb/IIIa receptor on the platelet surface. The present study determines the genetic mutation typology… read more here.

Keywords: hematology; glanzmann thrombasthenia; novel pathogenic; clinical findings ... See more keywords
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Unexplained bruising in an infant: Glanzmann thrombasthenia.

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recommendations! Published in 2023 at "Clinical and experimental dermatology"

DOI: 10.1093/ced/llad002

Abstract: Glanzmann's thrombasthenia is a rare clotting disorder caused by impaired platelet function that can present with unexplained bruising. We present a 4-month-old girl and outline the assessment and management of this condition, as well as… read more here.

Keywords: glanzmann thrombasthenia; infant glanzmann; unexplained bruising; dermatology ... See more keywords
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Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees

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recommendations! Published in 2020 at "International Journal of Laboratory Hematology"

DOI: 10.1111/ijlh.13266

Abstract: Glanzmann thrombasthenia (GT) is most common of inherited platelet disorders, resulting from quantitative/qualitative defects in platelet surface integrin αIIbβ3, encoded by ITGA2B and ITGB3 genes. Little is known about clinical and molecular characteristics of GT… read more here.

Keywords: two homozygous; homozygous missense; glanzmann thrombasthenia; missense mutations ... See more keywords
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A unique phenotype of acquired Glanzmann thrombasthenia due to non‐function‐blocking anti‐αIIbβ3 autoantibodies

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recommendations! Published in 2019 at "Journal of Thrombosis and Haemostasis"

DOI: 10.1111/jth.14323

Abstract: Essentials Acquired Glanzmann thrombasthenia (aGT) is generally caused by function‐blocking antibodies (Abs). We demonstrated a unique aGT case due to marked reduction of αIIbβ3 with anti‐αIIbβ3 Abs. The anti‐αIIbβ3 Abs of the patient did not… read more here.

Keywords: function blocking; acquired glanzmann; anti iib; glanzmann thrombasthenia ... See more keywords
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How I manage pregnancy in women with Glanzmann thrombasthenia.

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recommendations! Published in 2022 at "Blood"

DOI: 10.1182/blood.2021011595

Abstract: Glanzmann thrombasthenia (GT) is a rare inherited platelet function disorder caused by a quantitative and/or qualitative defect of the αIIbβ3 integrin. Pregnancy and delivery is a recognized risk period for bleeding in women with GT.… read more here.

Keywords: glanzmann thrombasthenia; manage pregnancy; pregnancy; women glanzmann ... See more keywords
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A Single F153Sβ3 Mutation Causes Constitutive Integrin αIIbβ3 Activation in a Variant Form of Glanzmann Thrombasthenia.

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recommendations! Published in 2023 at "Blood advances"

DOI: 10.1182/bloodadvances.2022009495

Abstract: This report identifies a novel variant form of the inherited bleeding disorder, Glanzmann thrombasthenia (GT) exhibiting only mild bleeding in a physically active individual. The platelets cannot aggregate ex vivo with physiologic agonists of activation,… read more here.

Keywords: variant form; iib activation; glanzmann thrombasthenia; single f153s ... See more keywords
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Utility of the ISTH bleeding assessment tool (BAT) in diagnosis of Glanzmann Thrombasthenia patients

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recommendations! Published in 2022 at "Pakistan Journal of Medical Sciences"

DOI: 10.12669/pjms.38.4.5361

Abstract: Objectives: To assess the utility of ISTH-BAT (International Society on Thrombosis and Hemostasis- Bleeding Assessment Tool) in the diagnosis of Glanzmann Thrombasthenia (GT) in comparison to controls. Methods: It was a case-control study carried out… read more here.

Keywords: isth bat; glanzmann thrombasthenia; diagnosis; bat ... See more keywords
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Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

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recommendations! Published in 2023 at "Frontiers in Pediatrics"

DOI: 10.3389/fped.2022.1062900

Abstract: Glanzmann thrombasthenia (GT) is a rare inherited disease characterized by mucocutaneous bleeding due to the abnormalities in quantity or quality of platelet membrane GP IIb (CD41) or GP IIIa (CD61). GP IIb and GP IIIa… read more here.

Keywords: homozygous silent; itgb3; glanzmann thrombasthenia; itgb3 gene ... See more keywords