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

Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B.

Thrombosis and haemostasis - 28 Feb 2017

Loroch Stefan, Trabold Katharina, Gambaryan Stepan, Reiß Cora, Schwierczek Kathrin, Fleming Ingrid, Sickmann Albert, Behnisch Wolfgang, Zieger Barbara, Zahedi René P, Walter Ulrich, Jurk Kerstin

Abstract excerpt

Glanzmann thrombasthenia (GT) is one of the best characterised inherited platelet function disorders but global platelet proteome has not been determined in these patients. We investigated the proteome and function of platelets from two patients with type I GT, caused by different homozygous ITGA2b mutations, from family members and unrelated controls. The global proteome of highly purified washed platelets was...

Read the complete abstract on PubMed

Topics

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

Share to Blood Platelets
Share to Blood Proteins

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

Share to Frameshift Mutation

Share to Integrin alpha2

Share to Mass Spectrometry

Share to Platelet Function Tests

Share to Proteome

Share to Thrombasthenia

Source

Identifiers

PMID: 28078347
DOI: 10.1160/TH16-07-0515

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.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B.PMID 28078347Read ↗

Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?Semantic proximity Read ↗

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

Molecular Pathogenesis of Inherited Platelet Dysfunction.Semantic proximity Read ↗

Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.Semantic proximity Read ↗

Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.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 ↗

Glanzmann thrombasthenia: state of the art and future directions.Semantic proximity Read ↗

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.Semantic proximity Read ↗

Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?Semantic proximity Read ↗

Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression.Semantic proximity Read ↗

Homozygous point mutations in platelet glycoprotein ITGA2B gene as cause of Glanzmann thrombasthenia in 2 families.Semantic proximity Read ↗

Inherited platelet disorders.Semantic proximity Read ↗

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