Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Demonstration of novel gain‐of‐function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia‐like phenotype

22 Apr 2013

Abstract excerpt

Integrin αIIbβ3 is indispensable for normal hemostasis, but its role for thrombopoiesis is still controversial. Recently, αIIb and β3 mutations have been identified in patients with congenital macrothrombocytopenia. We analyzed three unrelated Japanese families with congenital macrothrombocytopenia. Expression and activation state of αIIbβ3 in platelets was examined by flow cytometry and immunoblotting. Sequence...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood properties and coagulation
Share to Cell Adhesion Molecules Research
Share to Platelet Disorders and Treatments

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24498605
DOI: 10.1002/mgg3.9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Demonstration of novel gain‐of‐function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia‐like phenotypePMID 24498605Read ↗

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.Semantic proximity Read ↗

Knock-in mice bearing constitutively active αIIb(R990W) mutation develop macrothrombocytopenia with severe platelet dysfunction.Semantic proximity Read ↗

Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin.Semantic proximity Read ↗

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.Semantic proximity Read ↗

Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia.Semantic proximity Read ↗

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.Semantic proximity Read ↗

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

Dominant inheritance of a novel integrin 3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian familiesSemantic proximity Read ↗

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of<b>α</b>IIb<b>β</b>3 integrin (<i>ITGA2B, ITGB3</i>)Semantic proximity Read ↗

αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Semantic proximity Read ↗

Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.Semantic proximity Read ↗

Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.