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Article

Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia.

Haematologica - 1 Jan 2016

Bury Loredana, Falcinelli Emanuela, Chiasserini Davide, Springer Timothy A, Italiano Joseph E, Gresele Paolo

Abstract excerpt

Several patients have been reported to have variant dominant forms of Glanzmann thrombasthenia, associated with macrothrombocytopenia and caused by gain-of-function mutations of ITGB3 or ITGA2B leading to reduced surface expression and constitutive activation of integrin αIIbβ3. The mechanisms leading to a bleeding phenotype of these patients have never been addressed. The aim of this study was to unravel the...

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Source

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Identifiers

PMID: 26452979
DOI: 10.3324/haematol.2015.130849
PMCID: PMC4697891

Genes

ITGB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia.PMID 26452979Read ↗

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