A potential role for α-actinin in inside-out αIIbβ3 signaling
PMID: 20940419
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: No proband or variant information; however, there is potential experimental assay information
324 Matching Annotations
- Oct 2026
-
ashpublications.org ashpublications.org
-
-
www.sciencedirect.com www.sciencedirect.com
-
Inherited traits affecting platelet function
PMID: 18180086
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article gives background information on GT; there is no mention of GT probands with variants in ITGA2B and/or ITGB3
-
-
link.springer.com link.springer.com
-
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy
PMID: 27696190
Gene: ITGA2B
HGNC: 6138
-
-
reader.elsevier.com reader.elsevier.com
-
Inhibition of Platelet Aggregation byAbciximab but Not by Aspirin Can BeDetected by a New Point-of-Care Test, the Hemostatus
PMID: 10418797
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, there is no mention of variants in ITGA2B and/or ITGB3; therefore, there is insufficient evidence
PreviouslyPublished: The GT patient in this article has been previously published in this PMID: 2180491
-
-
ashpublications.org ashpublications.org
-
Recombinant factor VIIa enhances deposition of platelets with congenital or acquired αIIbβ3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor–independent thrombin generation
PMID: 12411291
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands with variants in ITGA2B and/or ITGB3 therefore there is no evdience; however, there may be potenetial experimental assay information
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Interactionofhumanplateletswithlamininandidentificationofthe67kDalamininreceptoronplatelets
PMID: 1826081
Gene: ITGA2B and ITGB3 (we are noting these gene names even though there is no evidence for GT in this article, because we are curating for these genes-- CThaxton advised it would be a good idea to always note down Genes and HGNC)
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. The studies performed in this article were undertaken to characterize the interaction of platelets with laminin.
-
-
Local file Local file
-
Are bone defects in rare patients with Glanzmann’s thrombastheniaassociated withITGB3orITGA2Bmutations?
PMID: 21557682
Gene: ITGA2B
HGNC: 6138
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Successful Management of Acute Catastrophic Juvenile Vaginal Bleeding in Glanzmann's Thromboasthenia by Uterine Tamponade: A Case Report and Review of The Literature
PMID: 22928124
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article reports a case of acute catastrophic vaginal bleeding in a girl, who was diagnosed with GT and responded to uterine tamponade for acute control of vaginal bleeding; however, no variants in ITGA2B and/or ITGB3 are mentioned in this article therefore we have insufficient evidence
-
-
www.tandfonline.com www.tandfonline.com
-
FLOW CYTOMETRIC ANALYSIS OF PLATELET SURFACE GLYCOPROTEINS IN THE DIAGNOSIS OF BERNARD-SOULIER SYNDROME
PMID: 9021812
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
reader.elsevier.com reader.elsevier.com
-
VISUALIZATION OF PLATELET GLYCOPROTEINS Ib AND IIIa BY IMMUNOENZYMATIC STAIN USING AVIDIN-BIOTIN PEROXIDASE COMPLE
PMID: 1788826
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
-
-
www.ahajournals.org www.ahajournals.org
-
Platelet Glycoprotein IIb/IIIa Receptors and Glanzmann’s Thrombasthenia Deborah L. French and Uri SeligsohnFrom the Mount Sinai School of Medicine (D.L.F.), New York, NY, and The Chaim Sheba Medical Center (U.S.), Tel-Hashomer, Israel.
PMID: 10712380
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This review mentions many variants in ITGA2B and ITGB3; however, there are no probands to tie these variants to therefore there is insufficient evidence
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia
PMID: 9734640
Gene: ITGA2B
HGNC: 6138
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend
PMID: 18840725
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article is a review discussing the integrin αIIbβ3, there is no mention of probands with variants in ITGA2B and/or ITGB3
-
-
reader.elsevier.com reader.elsevier.com
-
Inherited bleeding disorders: disorders of plateletadhesion and aggregation
PMID: 9351872
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT
-
-
www.haematologica.org www.haematologica.org
-
A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia
PMID: 18450741
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InusufficientEvidence: This article used a bifunctional bioengineered disintegrin/alkaline phosphatase hybrid protein ErAPv to evaluate 14 consecutive cases of Glanzmann thrombasthenia and 20 normal healthy controls. Thererefore, GT probands are mentioned; however, no specific variants in ITGA2B and/or ITBG3 have been mentioned in these patients
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A Rare Case of Bleeding Disorder: Glanzmann's Thrombasthenia
PMID: 29063905
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case of an individual with Glanzmann thrombasthenia; however, no specific variants mentioned in proband.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
High-level transgene expression in induced pluripotent stem cell–derived megakaryocytes: correction of Glanzmann thrombasthenia
PMID: 24335497
Gene: ITGA2B
HGNC: 6138
-
-
www.jimmunol.org www.jimmunol.org
-
Human IgG Monoclonal Anti-αIIbβ3-Binding Fragments Derived from Immunized Donors Using Phage Display
PMID: 11823541
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 1 GT proband; however, variants in ITGA2B and/or ITGB3 are not mentioned.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Iraqi-JewishandArabpopulationsinIsrael
PMID: 2014236
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article does not mention specific case reports- rather, this article mentions two different populations harboring variants. I have annotated the 2 variants each cohort harbors
-
-
www.sciencedirect.com www.sciencedirect.com
-
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?
PMID: 28395882
Gene: ITGA2B and ITGB3
HGNC: 6139 and 6156
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
From thrombasthenia to next generation thrombocytopenia: Neonatal alloimmune thrombocytopenia induced by maternal Glanzmann thrombasthenia
PMID: 30216638
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions mothers with GT and their newborns. Table 1 shows very general/vague genetic data for the mothers, it is not easy to determine what the actual genetic defects are from Table 1; therefore, there is insufficient evidence
-
-
stke.sciencemag.org stke.sciencemag.org
-
Platelets contribute to amyloid-β aggregation in cerebral vessels through integrin αIIbβ3–induced outside-in signaling and clusterin release
PMID: 27221710
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands with variants in ITGA2B or ITGB3
-
-
Local file Local fileuntitled1
-
Allogeneic Hematopoietic Stem Cell Transplantation in Glanzmann Thrombasthenia Complicated by Platelet Alloimmunization
PMID: 21567370
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, no mention of the proband with variants in ITGA2B and ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A Two–Amino Acid Insertion in the Cys146–Cys167 Loop of the aIIb Subunit Is Associated with a Variant of Glanzmann Thrombasthenia
PMID: 9739052
Gene: ITGA2B
HGNC: 6138
-
-
www.jbc.org www.jbc.org
-
The Role of Conserved Amino Acid Motifs within theIntegrinb3Cytoplasmic Domain in Triggering FocalAdhesion Kinase Phosphorylation*
PMID: 9065456
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and/or ITGB3; however, no specific GT probands are mentioned harboring these variants mentioned therefore there is insufficient evidence
-
-
-
Qualitative disorders of platelets and megakaryocytes
PMID: 16102044
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions variants in ITGA2B; however, the variants are not linked to individuals bearing them therefore we have insufficient evidence
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Platelet and granulocyte alloimmunisation in multitransfused Tunisian patients
PMID: 16104882
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: The purpose of our study was to determine the frequency of alloimmunisation against platelets and leukocytes in multiply transfused Tunisian patients; there are 3 GT probands in this article; however, no mention of variants in ITGA2B and/or ITBG3; therefore, we have insufficient evidence
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
A naturally occurring mutation near the C terminus of the β‐propeller of αIIb impair the transport of αIIbβ3 complexes from the endoplasmic reticulum to the Golgi apparatus
PMID: 15946231
Gene: ITGA2B
HGNC: 6138
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Platelet collagen receptor Glycoprotein VI-dimer recognizesfibrinogen and fibrin through their D-domains, contributing toplatelet adhesion and activation during thrombus formation
PMID: 29210180
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: Article does not mention GT probands with specific variants in ITGA2B and/or ITGB3
-
-
-
Novel mutations in Thai patients with glanzmann thrombasthenia
PMID: 28888044
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
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A 10-Base-Pair Deletion in the Gene Encoding Platelet GlycoproteinIIb Associated with Glanzmann Thrombasthenia in a Horse
PMID: 17338169
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article discusses a 10 base pair deletion in GT; however, in a horse, not human therefore there is insufficient evidence
-
-
watermark.silverchair.com watermark.silverchair.com3212.pdf1
-
Molecular Basis for Glanzmann’s Thrombasthenia (GT) in a Compound Heterozygote With Glycoprotein IIb Gene: A Proposal for the Classification of GT Based on the Biosynthetic Pathway of Glycoprotein IIb-IIIa Complex
PMID: 1317725
Gene: ITGA2B
HGNC: 6138
-
-
journals.lww.com journals.lww.com
-
Glanzmann thrombasthenia detected because of knee hemarthrosis: a case report
PMID: 20736850
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an individual with GT; however, no variants in ITGA2B or ITGB3 are mentioned
-
-
watermark.silverchair.com watermark.silverchair.com1857.pdf1
-
A Point Mutation in the Integrin p3 Cytoplasmic Domain (S752 + P) Impairs Bidirectional Signaling Through aIIbP3 (Platelet Glycoprotein IIb-IIIa)
PMID: 8080992
Gene: ITGB3
HGNC: 6138
InsufficentEvidence: This article mentions a variant in ITGB3; however, the article does not mention a GT case report with the variant in detail, rather this paper cites another paper of a proband harboring the variant of interest
-
-
journals.sagepub.com journals.sagepub.com
-
Glanzmann'sThrombastheniaProposedOptimalManagementDuringSurgeryandDelivery
PMID: 12812388
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 34 year old proband with GT; however, there is no mention of variants in ITGA2B and/or ITGB3 in the proband that is mentioned
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Three novel β-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-αIIb, but variably impaired progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi
PMID: 16359515
Gene: ITGA2B
HGNC: 6138
-
-
search.proquest.com search.proquest.com
-
Successful surgery using recombinant factor VIIa for recurrent, idiopathic nonulcer duodenal bleeding in a patient with Glanzmann's thrombasthenia
PMID: 12353868
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease.
PMID: 24418945
Gene: ITGA2B
HGNC: 6138
-
-
www.tandfonline.com www.tandfonline.com
-
Glanzmann's thrombasthenia in North Indians: Sub classification and carrier detection by flow cytometry
PMID: 19172516
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions individuals with GT; however, there are no variants in ITGA2B and/or ITGB3 mentioned here
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Insertion of a C in the exon 28 of integrin αIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case
PMID: 15748238
Gene: ITGA2B
HGNC: 6138
-
-
www.fertstert.org www.fertstert.org
-
Endometriosis in two sisters with Glanzmann's thrombasthenia
PMID: 19647234
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two individuals with GT; however, there is no mention of variants in ITGA2B and/or ITGB3
-
-
watermark.silverchair.com watermark.silverchair.com369.pdf1
-
Platelet Glycoprotein IIb-III, (ffIIbp3 Integrin) Confers Fibrinogen- and Ac tiva tion-Dependen t Aggregation on Heterologous Cells
PMID: 2070074
Gene: N/A
HGNC: N/A
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
Note: Although there is no evidence regarding GT probands and variants-- there is some experimental assay evidence, where methods for the experiment may be useful
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Glanzmann's thrombasthenia and pregnancy: report of a case and literature review
PMID: 22384307
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an individual with GT however there are no variants in ITGA2B or ITGB3 mentioned
-
-
Local file Local file
-
Inherited platelet disorders
PMID: 22726100
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This review mentions variants in ITGA2B and ITGB3; however, variants are not tied to specific probands therefore there is insufficient evidence
-
-
Local file Local file
-
Inherited platelet disorders and oral health
PMID: 22583386
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention probands or variants with GT however this has a general summary of Glanzmann thrombasthenia
-
-
pdf.sciencedirectassets.com pdf.sciencedirectassets.com
-
Glanzmann thrombasthenia: An update
PMID: 19854165
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article describes many variants in ITGA2B and ITGB3 however no probands to tie variants to therefore insufficient evidence
-
-
www.jisppd.com www.jisppd.com
-
Hematological and surgical management in Glanzmann's thrombasthenia: A case report
PMID: 24739923
Gene: ITGA2B and/or ITGB3 (These genes may be involved since this patient has GT)
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an individual with Glanzmann thrombasthenia; however, there are no ITGA2B or ITGB3 variants in this proband
-
-
instructure-uploads.s3.amazonaws.com instructure-uploads.s3.amazonaws.com
-
Norethisterone therapy for bleeding due to gastrointestinaltelangiectases in Glanzmann’s thrombasthenia
PMID: 9504647
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
pdfs.semanticscholar.org pdfs.semanticscholar.org45-1.pmd1
-
Pyelolithotomy in a patient with Glanzmann thrombasthenia andantiglycoprotein IIb/IIIa antibodies: the shortest possibleduration of treatment with recombinant activated factor VII andplatelet transfusions
PMID: 12718376
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Thus article mentions a Glanzmann thrombasthenia proband; however, no variants in ITGA2B and/or ITGB3 were reported in this patient
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Role of RFLP using TspRI for carrier detection in Glanzmann’s thrombasthenia: a report on two families M. KANNAN Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author B. K. YADAV Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author F. AHMAD Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. SAXENA Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author
PMID: 19170775
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
-
DDAVP-induced enhancement of platelet retention: Its dependence on platelet-von Willebrand Factor and the platelet receptor GP IIb/IIIa
PMID: 1499698
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient (29 years old); however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence. The aim of the present study was to investigate the mechanism by which DDAVP induces increased platelet adhesiveness, as measured in a platelet retention test.
-
-
watermark.silverchair.com watermark.silverchair.com75.pdf1
-
Plat el et Vitro nec t in Receptor Exp res s ion Differentiates Iraqi - Jewi s h From Arab Patients With Glanzmann Thrombasthenia in Israel
PMID: 1949709
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article examined platelets of the Iraqi-Jewish and Arab Glanzmann thrombasthenia population; however, no specific proband information or variants in ITGA2B and/or ITGB3 were mentioned. This could be classified as "NoEvidence"; however, due to the fact the article mentioned two specific populations, I have noted it under "InsufficientEvidence"
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia
PMID: 23346430
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
-
Presentation and Pattern of Symptoms in 382 PatientsWith Glanzmann Thrombasthenia in Iran
PMID: 15389911
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article looks at the presentation and pattern of symptoms in 382 patients with GT. There are no variants associated with probands in ITGA2B and/or ITBG3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Use of rFVIIa in 4 children with Glanzmann thrombasthenia.
PMID: 17023825
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions individuals with GT; however, there is no mention of these individuals bearing variants in ITGA2B and/or ITBG3
-
-
www.jstage.jst.go.jp www.jstage.jst.go.jpen1
-
Acute Epidural Hematoma in a PatientWith Glanzmann's Thrombasthenia—Case Report—
PMID: 21030808
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 7 year old girl with GT; however, there are no variants in ITGA2B or ITGB3 mentioned in this article
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families
PMID: 21487445
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
-
Acquired thrombasthenia due to GPIIbIIIaplatelet autoantibodies in a 4-yr-old child
PMID: 15748238
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions proband with acquired thrombasthenia; however, there is no mention of variants in ITGA2B and/or ITGB3
-
Acquired thrombasthenia due to GPIIbIIIaplatelet autoantibodies in a 4-yr-old child
PMID: 16343278
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 4 year old with acquired thrombasthenia; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore there is insufficient evidence
-
-
Local file Local file
-
PeriodontalManagementofGlanzmann'sThrombasthenia:Reportof3Cases
PMID: 8866321
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions 3 Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in these individuals; therefore, we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A Glanzmann’s mutation in β3 integrin specifically impairs osteoclast function
PMID: 11342577
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B/ITGB3; however, there is no mention of individual(s) with GT therefore we have insufficient evidence
-
-
reader.elsevier.com reader.elsevier.com
-
Hematologically Important Mutations: Glanzmann Thrombasthenia
PMID: 9215749
Gene: ITGA2B and ITGB3
HGNC: 6138 abd 6156
-
-
Local file Local fileuntitled1
-
aIIbb3 Integrin: New Allelic Variants in GlanzmannThrombasthenia, Effects onITGA2BandITGB3mRNASplicing, Expression, and Structure–Function
PMID: 20020534
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia
PMID: 22210999
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, it is examined in a horse not human
-
-
europepmc.org europepmc.org
-
Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia
PMID: 21113249
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
link.springer.com link.springer.com
-
Molecular analysis of a patient with type I Glanzmannthrombasthenia and clinical impact of the presenceof anti-aIIbb3 alloantibodies
PMID: 21136216
Gene: ITGB3
HGNC: 6138
-
-
Local file Local file
-
The Level of Laboratory Testing Requiredfor Diagnosis or Exclusion of a PlateletFunction Disorder Using Platelet Aggregationand Secretion Assays
PMID: 19408197
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article provides background information on Glanzmann thrombasthenia; however, does not mention probands or variants in ITGA2B and ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Thrombin generation assays: accruing clinical relevance.
PMID: 15257016
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITGB3; however, this may be useful for experimental assay purposes
-
-
Local file Local file
-
DentalConsiderationsforaGlanzmann'sThrombastheniaPatient:CaseReport
PMID: 8724714
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
pdfs.semanticscholar.org pdfs.semanticscholar.org
-
Platelet Fibrinogen and Vitronectin in Glanzmann Thrombasthenia: Evidence Consistent With Specific Roles for Glycoprotein IIb/IIIa and a,P3 Integrins in Platelet Protein Trafficking
PMID: 1726706
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
www.tandfonline.com www.tandfonline.com
-
ITGA2B and ITGB3 gene mutations associated withGlanzmann thrombasthenia
PMID: 29125375
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
NoEvidence This article gives a general overview of Glanzmann thrombasthenia, it does not discuss a proband or variants within probands.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Congenital disorders associated with platelet dysfunctions.
PMID: 18278172
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions Glanzamnnt thrombasthenia variants; however, these variants are not tied to individual probands
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Hematuria: An uncommon presentation of Glanzmann's thrombasthenia—Lessons learnt
PMID: 20535297
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case study of a 55 year old male with GT; however, no variants in ITGA2B/ITGB3 are presented here
-
-
www.jbc.org.libproxy.lib.unc.edu www.jbc.org.libproxy.lib.unc.edu
-
Platelet-derived Microparticle Formation Involves Glycoprotein IIb-IIIa
PMID: 8325838
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients
PMID: 30792900
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156 respectively as shown above
-
-
Local file Local file
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First description of an IgM monoclonal antibody causingaIIbb3integrin activation and acquired Glanzmannthrombasthenia associated with macrothrombocytopenia
PMID: 30868743
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as shown above
InsufficientEvidence: Article discusses case report; however, no variants were reported in either ITGA2B or ITGB3 among sequencing analysis for proband.
-
-
watermark.silverchair.com watermark.silverchair.com977.pdf1
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The Molecular Genetic Basis of Glanzmann’s Thrombasthenia in a Gypsy Population in France: Identification of a New Mutation on the &IIb Gene
PMID: 7620188
Gene: ITGA2B
HGNC: 6138
Note: Article mentions, under materials and methods, that the group being studied are two different families (I and II) belonging to the French gypsy community; however, in the results section the article focuses on patient V.17 from Family 1- therefore patient V.17 is annotated as the proband in this article
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Clinical And Molecular Insights into Glanzmann’s Thrombasthenia in China
PMID: 29675921
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as gene names shown above
-
-
www.sciencedirect.com www.sciencedirect.com
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Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs
PMID: 31010659
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as shown above
InsufficientEvidence: This is a review article. There are no specific case reports; however, there are cited articles which may have GT probands states in them
PreviouslyPublished: PMIDs: 3015287, 2935559, 8982055, 12437677
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A novel form of integrin dysfunction involving β1, β2, and β3 integrins
PMID: 12511588
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with LAD-1 and GT like symptoms however no variants in ITGA2B and/or ITGB3 are mentioned
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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The role of platelets in venous thrombosis: a patient with Glanzmann's thrombasthenia and a factor V Leiden mutation suffering from deep venous thrombosis
PMID: 12871523
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Colonoscopy polypectomy management in Glanzmann’s thrombasthenia
PMID: 21160656
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, no variants in ITGA2B and/or ITGB3 mentioned
-
-
journals.sagepub.com journals.sagepub.com
-
Two Genetic Defects in αIIb Are Associated with Type I Glanzmann's Thrombasthenia in a Great Pyrenees Dog: A 14-base Insertion in Exon 13 and a Splicing Defect of Intron 13
PMID: 11105947
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions two genetic defects in the ITGA2B gene; however, in dogs not GT human patients; therefore, we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Functional Comparison of Induced Pluripotent Stem Cell- and Blood-Derived GPIIbIIIa Deficient Platelets
PMID: 25607928
Gene: ITGA2B
HGNC: 6138
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults
PMID: 30117143
Gene: ITGA2B and ITGB3 (Article mentions these genes)
HGNC: 6138 and 6156
NoEvidence: No mention of probands or variants in this article
-
-
watermark.silverchair.com watermark.silverchair.com2344.pdf1
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Effect of Deletion of Glycoprotein IIb Exon 28 on the Expression of the Platelet Glycoprotein IIb/IIIa Complex
PMID: 1932748
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a different variants in ITGA2B/ITGB3; however, no GT probands are mentioned in this article harboring these variants
-
-
Local file Local file
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Novel mutations in GP IIb gene in Glanzmann’s thrombastheniafrom India
PMID: 19172520
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
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Insertion of a C in the exon 28 of integrinaIIb gene leadingto a frameshift mutation is responsible for Glanzmannthrombasthenia in a Japanese case
PMID: 15748238
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
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Description of 10 new mutations in plateletglycoprotein IIb (aIIb) and glycoprotein IIIa (b3)genes
PMID: 11798398
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
www.jbc.org www.jbc.org
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Involvement of Platelet Glycoprotein IIb-IIIa (aIIb-P3 Integrin) in Thrombin-induced Synthesis of Phosphatidylinositol 3’,4’- Bisphosphate
PMID: 1660876
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Multidisciplinary Clinical Management of a Localized Aggressive Periodontitis diagnosed in a Child with Glanzmann’s Thrombasthenia
PMID: 30397380
Gene: ITGA2B and/or ITGB3 (Proband presented with GT; therefore, these genes may involved
HGNC: 6138 and 6156
InsufficientEvidence: Proband with Glanzmann thrombasthenia described in this article; however, no variant is mentioned in this article
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Cytoplasmic regions of the β3 subunit of integrin αIIbβ3 involved in platelet adhesion on fibrinogen under flow conditions
PMID: 12941045
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article does not have any GT case reports; however, this article references another article-- "In an earlier report, Chen et al. [14] described a patient with a variant of Glanzmann's thrombasthenia whose platelets failed to aggregate due to a S752→P mutation"
PreviouslyPublished: PMID: 1438206 and PMID: 8080992
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review
PMID: 25275492
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review, please check tables for previously published probands
PreviouslyPublished: Table 9 has previously published GT patients
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
PMID: 21917754
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT. There are previously published variants and probands with GT mentioned, but no novel case reports presented here
-
-
asbmr.onlinelibrary.wiley.com asbmr.onlinelibrary.wiley.com
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Critical Role of β3 Integrin in Experimental Postmenopausal Osteoporosis† Haibo Zhao Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Hideki Kitaura Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Mark S Sands Department of Medicine, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author F Patrick Ross Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Steven L Teitelbaum Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Deborah Veis Novack MD, PhD Corresponding Author E-mail address: novack@wustl.edu Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USA Department of Medicine, Washington University School of Medicine, St Louis, Missouri, USAWashington University School of Medicine, 660 S. Euclid Avenue, Box 8301, St Louis, MO 63110, USASearch for more papers by this author
PMID: 16294265
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This is a study of ITGAB variants on mice, not humans, therefore we have insufficient evidence; however, this article may be useful for experimental evidence
-
-
link.springer.com link.springer.com
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Glanzmann Thrombasthenia with Acute Myeloid Leukemia Successfully Treated by Bone Marrow Transplantation
PMID: 15717695
Gene: ITGA2B
HGNC: 6138
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Glanzmann thrombasthenia in a 17‐year‐old Peruvian Paso mare
PMID: 21291483
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, in a horse not human
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Antiplatelet antibodies in cases of Glanzmann's thrombasthenia with and without a history of multiple platelet transfusion
PMID: 20407646
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article studies the antiplatelet antibodies in 23 patients with GT who may have missense mutations; however, specific variants/mutations in ITGA2B and ITGB3 are not mentioned; therefore, we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Glanzmann'sthrombastheniawithmildvonWillebrand'sdisease
PMID: 8282841
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
www.tandfonline.com www.tandfonline.com
-
Glanzmann’s thrombasthenia: updated
PMID: 12487785
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article is a review on Glanzmann thrombasthenia. There is no mention of GT patients with variants in ITGA2B and/or ITGB3
Bold
-
-
Local file Local file
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Excessive Gingival Bleeding in Two Patients WithGlanzmann Thrombasthenia
PMID: 17539731
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two GT case reports of individuals with excessive gingival bleeding; however, there was no mention of variants in ITGA2B and/or ITBG3 in these two probands discussed in the article therefore we have insufficient evidene
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Glanzmann Thrombasthenia
PMID: 30855858
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156 respectively as shown above.
InsufficientEvidence: This is a summary and review of Glanzmann thrombasthenia. This article cites other articles which may mention GT patients/case reports.
PreviouslyPublished: PMID: 26185478
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-
Local file Local fileThomson1
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Molecular genetic diagnosis of Tunisian Glanzmannthrombasthenia patients reveals a common nonsensemutation in theITGA2Bgene that seems to be specificfor the studied population
PMID: 30325339
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
ashpublications.org ashpublications.org
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Recombinant Factor VIIa Is Effective for Bleeding and Surgery in Patients With Glanzmann Thrombasthenia
PMID: 10572113
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions Glanzmann thrombasthenia patients; however, there is no mention of variants in ITGA2B and/or ITGB3 within these patients; therefore, there is insufficient evidence
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorder
PMID: 15461628
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, variants in ITGA2B and/or ITGB3 are not mentioned
-
-
journals.sagepub.com journals.sagepub.com
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Intensive Menstrual BleedingSuccessfully Treated With RecombinantFactor VIIa in Glanzmann Thrombasthenia
PMID: 20460355
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with GT; however, no variants in ITGA2B or ITGB3 are mentioned
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
GlanzmannThrombastheniaResultingfromaSingleAminoAcidSubstitutionbetweentheSecondandThirdCalcium-bindingD
PMID: 7706461
Gene: ITGA2B
HGNC: 6138
-
-
watermark.silverchair.com watermark.silverchair.com1562.pdf1
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Glycoprotein IIb Leu214Pro Mutation Produces Glanzmann ThrombastheniaWith Both Quantitative and Qualitative Abnormalities in GPIIb/IIIa
PMID: 9473221
Gene: ITGA2B
HGNC: 6138
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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β3-integrin–deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival
PMID: 9916135
Gene: ITGA2B and/or ITGB3
NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITBG3; therefore there is no evidence. Researchers in this study generated a strain of B3 null mice, these mice will allow analysis of other suggested functions of B3 integrins.
-
-
ashpublications.org ashpublications.org
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Recombinant factor VIIa restores aggregation of αIIbβ3-deficient platelets via tissue factor–independent fibrin generation
PMID: 14592825
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
In this particular study, the effect of rFVIIa on the aggregation of αIIbβ3-deficient platelets was investigated in a system consisting of isolated platelets and purified coagulation factors.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Involvement of GPIIb-IIIa on Human Platelets in Phosphotyrosine-Specific Dephosphorylation
PMID: 7687438
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and ITGB3. Rather, This article reports another aspect of relationship between GPIIIb -IIIa and protein tyrosine phosphorylation, that is, the involvement of GPIIb-IIIa in dephosphorylation of certain tyrosine phosphorylated proteins
-
-
www.tandfonline.com www.tandfonline.com
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Use of allogeneic stem cell transplantation for moderate–severe Glanzmann thrombasthenia
PMID: 25548835
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article reports a case study with an individual with GT; however, no variants in ITGA2B or ITGB3 are reported here
-
-
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Linkage of four polymorphisms on theaIIbgene
PMID: 9695983
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there is no specific details of the GT patient's blood that was drawn to study these variants; therefore, there is insufficient evidence
-
-
Local file Local file
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INVITEDREVIEWAdvances in our understanding of the molecular basis ofdisorders of platelet function
PMID: 21781244
Genes: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions several variants in ITGB3; however no mention of individual probands with these variants
-
-
Local file Local file
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Spontaneoushaemothorax:anuncommonpresentationofGlanzmannthrombasthenia
PMID: 12434904
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, the article does not discuss this patient having variants in ITGA2B and/or ITGB3 therefore there is insufficient evidence
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-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Anti‐αIIbβ3 immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations Mathieu Fiore Corresponding Author E-mail address: mathieu.fiore@chu-bordeaux.fr http://orcid.org/0000-0002-2526-8826 Laboratory of Haematology, Reference Centre for Platelet Disorders, University Hospital of Bordeaux, Pessac, France Correspondence: Dr Mathieu Fiore, Laboratoire d'hématologie, Centre de Référence des Pathologies Plaquettaires, CHU de Bordeaux, Hôpital Cardiologique, Pessac, France. E‐mail: mathieu.fiore@chu-bordeaux.frSearch for more papers by this author Roseline d'Oiron Centre for Haemophilia and Rare Congenital Disorders, University Hospital Paris‐Sud, AP‐HP, Bicêtre Hospital, Kremlin‐Bicêtre, FranceSearch for more papers by this author Xavier Pillois Laboratory of Haematology, Reference Centre for Platelet Disorders, University Hospital of Bordeaux, Pessac, France Cardiovascular Adaptation to Ischaemia, Inserm U1034, Pessac, FranceSearch for more papers by this author Marie‐Christine Alessi Laboratory of Haematology, University Hospital of La Timone, French Reference Centre for Rare Platelet Disorders, Marseille, FranceSearch for more papers by this author
PMID:
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: Article mentions French gypsy mutation (c.1544+1G>A); however, no single proband to tie information to therefore we have insufficient evidence
-
-
www.tandfonline.com www.tandfonline.com
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Hereditary Disorders of Platelet Function
PMID: 21043747
Gene: N/A
HGNC: N/A
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. This article gives a general overview of bleeding disorders including GT, and variants that have been reported in previous papers.
-
-
www.jbc.org www.jbc.org
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The αvβ3 Integrin Regulates α5β1-mediated Cell Migration toward Fibronectin
PMID: 9361020
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT variants in ITGA2B/ITGB3; however, there are no GT patients harboring these variants; therefore, there is insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations
PMID: 31029159
Gene: ITGB3 and ITGA2B
HGNC: 6156 and 6138 respectively as shown above.
-
-
www.sciencedirect.com www.sciencedirect.com
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Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series
PMID: 28341450
General: ITGA2B and/or ITGB3 (Not mentioned in article; however, implied due to patients having GT)
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with Glanzmann thrombasthenia; however no mention of variants in ITGA2B or ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Clinical use of recombinant human activated factor VII (rFVIIa) in the prevention and treatment of bleeding episodes in patients with Glanzmann’s thrombasthenia
PMID: 18078017
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article summarizes GT and its mechanism of action. No information on GT probands or variants in ITGA2B and/or ITGB3
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-
www.sciencedirect.com www.sciencedirect.com
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Glanzmann thrombasthenia and pregnancy: about a case, a review of the literature Glanzmann's Thrombasthenia and pregnancy: a case and a review of the literature
PMID: 14612172
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review of GT and pregnancy. This article mentions a GT proband; however, there is no mention of variants in ITGA2B and/or ITGB3
-
-
www.ahajournals.org www.ahajournals.org
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Rapid and Simple Platelet Function Assay to Assess Glycoprotein IIb/IIIa Receptor Blockade
PMID: 9054743
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
www.sciencedirect.com www.sciencedirect.com
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Pregnancy in mother with Glanzmann's thrombasthenia and isoantibody against GPIIb–IIIa: Is there a foetal risk?
PMID: 16054952
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
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-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Novel point mutations in the αIIb subunit (Phe289 → Ser, Glu324 → Lys and Gln747 → Pro) causing thrombasthenic phenotypes in four Japanese patients
PMID: 9722314
Gene: ITGA2B
HGNC: 6138
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-
Local file Local file
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β3 integrins: major therapeutic targets of the near future
PMID: 15544009
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions the variant p.Ser752Pro however the variant is not tied to a proband with GT; therefore, we have insufficient evidence
-
-
www.sciencedirect.com www.sciencedirect.com
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Inherited platelet disorders: Management of the bleeding risk Thrombopathies / Hereditary Thrombocytopenia : Management of a Hemorrhagic Risk
PMID: 30077511
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention probands or variants within ITGA2B and ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran.
PMID: 23912132
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article discusses GT; however no probands with variants in ITGA2B and ITGB3 are discussed.
Note: Annotated on the PubMed Abstract because the journal this article is in, Blood Coagulation and Fibrinolysis does not work properly.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Primary arrest of circulating platelets on collagen involves phosphorylationof Syk, cortactin and focal adhesion kinase : studies under flow conditions
PMID: 11988077
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands with variants in ITGA2B and/or ITGB3 therefore there is insufficient evidence. However, the present study used blood samples from 2 patients with GT; therefore, the gene name and HGNC are included in this annotation
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watermark.silverchair.com watermark.silverchair.com
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A large alteration in the human plateletglycoprotein Ilia (integrin p\) geneassociated with Glanzmann'sthrombasthenia
PMID: 8111390
Gene: ITGA2B
HGNC: 6138
-
-
www.sciencedirect.com www.sciencedirect.com
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Improving selection of αIIbβ3-binding phage antibodies with increased reactivity derived from immunized donors
PMID: 14499243
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions GT case reports; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
Local file Local file
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British Journal of HaematoJogy. 1995. 89. 124-130 Platelets with 10% of the normal amount of glycoprotein VI have an impaired response to collagen that results in a mild bleeding tendency
PMID: 7530476
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
reader.elsevier.com reader.elsevier.com
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Modulation of clinical phenotype of Glanzmann's thrombastheniaby thrombogenic mutations
PMID: 19245802
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients; however, variants in ITGA2B and ITGB3 are not mentioned
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Human platelet alloantigen polymorphism in Glanzmann's thrombasthenia and its impact on the severity of the disease Kanjaksha Ghosh Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Bipin Kulkarni Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Sona Nair Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Shrimati Shetty Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Dipika Mohanty Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author
PMID: 12406067
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article does not mention variants in ITGA2B and/or ITGB3 in the probands in this article; therefore, we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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C560Rβ3 caused platelet integrin αIIbβ3 to Bind Fibrinogen Continuously yet Resulted in a Severe Bleeding Syndrome and Increased Murine Mortality
PMID: 23551977
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article talks about a GT variant however in mice, not humans.
-
-
Local file Local file
-
Integrins on Rat Osteoclasts: Characterization of Two Monoclonal Antibodies (F4 and F11) to Rat p3
PMID: 1585837
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Effectsofanovellowvolumeresuscitationsolutionsoncoagulationandplateletfunction
PMID: 31042735
Gene: ITGA2B and ITGB3
HGNC 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia case reports/probands and variants in ITGA2B and/or ITGB3 are not mentioned.
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia
PMID: 11091187
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Secondary prophylaxis with warfarin for recurrent thrombosis in a patient with Glanzmann thrombasthenia and F5 G1691A
PMID: 21848888
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Glanzmann thrombasthenia
PMID: 16722529
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions many variants in ITGA2B/ITGB3 (See Fig. 1 and 2); however, no mention of probands with these variants
-
-
link.springer.com link.springer.com
-
A novel ELISA for diagnosis of Glanzmann’s thrombasthenia and the heterozygote carriers
PMID: 22183252
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in 10 GT patients; however, it does not specify each case/proband with their gender/age/ethnicity and bleeding phenotypes.
-
-
www.sciencedirect.com www.sciencedirect.com
-
Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease
PMID: 30551951
Gene: ITGA2B and/or ITGB3 (Patient has GT; therefore, these genes may be involved)
HGNC: 6138 and 6156
InsufficientEvidence: Proband is presented in this article with GT; however, no variant information is provided therefore insufficient evidence
-
-
Local file Local file
-
Autoimmune Thrombocytopenic Purpura (AITP) andAcquired Thrombasthenia Due to Autoantibodies to GPIIb-IIIa in a Patient With an Unusual Platelet MembraneGlycoprotein Composition
PMID: 9462551
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a patient with thrombocytopenia; however, there is no mention of this proband harboring variants in ITGA2B and/or ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
The use of recombinant factor VIIa in a patient with severe Glanzmann's thrombasthenia to facilitate insertion of a Port-a-Cath.
PMID: 10695773
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, no variants in ITGA2B and/or ITGB3 were mentioned in this individual therefore there is insufficient evidence
Note: Able to get PDF of article; however, was not able to use Hypothes.is on the PDF
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
A new multiplex PCR and conformation‐sensitive gel electrophoresis strategy for mutation detection in the platelet glycoprotein αIIb and β3 genes
PMID: 17083650
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Two Human Antibodies Reacting With Different Epitopes on Integrin Beta 3 of Platelets and Endothelial Cells
PMID: 7517865
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient (case report); however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
Local file Local file
-
Novel and Recurrent Mutations ofITGA2BandITGB3Genes inKorean Patients with Glanzmann Thrombasthenia
PMID: 22190468
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Severe Juvenile Vaginal Bleeding Due to Glanzmann's Thrombasthenia: Case Report and Review of the Literature
PMID: 9495374
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
Local file Local file
-
Fetal-neonatal alloimmune thrombocytopenia and unexpected Glanzmann thrombasthenia carrier: report of two cases
PMID: 15819676
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
pdfs.semanticscholar.org pdfs.semanticscholar.org
-
Nonsense Mutation in Exon-19 of GPIIb Associatedwith Thrombasthenic Phenotype.Failure of GPIIb(597-1008) to Form Stable Complexeswith GPIIIa
PMID: 12008952
Gene: ITGA2B
HGNC: 6138
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Sustained engraftment and resolution of bleeding phenotype after unrelated cord blood hematopoietic stem cell transplantation for severe glanzmann thrombasthenia.
PMID: 19648793
Genes: ITGA2B and/or ITBG3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with GT; however, there is no mention of variants in ITGA2B and/or ITGB3 therefore we have insufficient evidence
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
The effect of platelets on fibrin gel structure formed in the presence of recombinant factor VIIa in hemophilia plasma and in plasma from a patient with Glanzmann thrombasthenia
PMID: 15670032
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a patient with GT; however, the patient does not have variants in ITGA2B and/or ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov2267.tif1
-
Further Characterization of the Thrombasthenia-related Idiotype OG. Antiidiotype Defines a Novel Epitope(s) Shared by Fibrinogen BE Chain, Vitronectin, and yon Willebrand Factor and Required for Binding to/33
PMID: 7525851
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a GT proband; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore there is insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Thrombospondin-inducedAdhesionofHumanPlatelets
PMID: 2010551
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
ashpublications.org ashpublications.org
-
A naturally occurring Tyr143HisαIIb mutation abolishes αIIbβ3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects
PMID: 12506038
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
-
Identification of a nonsense mutation at amino acid 5 84-Arginine of platelet glycoprotein IIb in patients with type I Glanzmann thrombasthenia
PMID: 8485050
Gene: ITGA2B
HGNC: 6138
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Study of the Relationship between HPA-1 and HPA-5 Gene Polymorphisms and Refractory to Platelet Therapy and Recombinant Factor VII in Glanzmann Thrombasthenia Patients in Southeast of Iran
PMID: 29951177
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Article mentions Glanzmann thrombasthenia probands; however, no variants associated with patients therefore insufficient evidence
-
-
-
Glanzmann thrombasthenia and Bernard–Souliersyndrome in south Iran
PMID: 16178914
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions various probands with GT; however, there are no mentioned variants in ITGA2B and/or ITGB3, therefore, we have insufficient evidence
-
-
Local file Local file
-
Open aortic valve replacement in a patient with Glanzmann’sthrombasthenia: a multidisciplinary strategy to minimizeperioperative bleeding
PMID: 23710629
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Mention of proband with Glanzmann thrombasthenia however no variants in the proband are mentioned for ITGA2B and ITGB3
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
An αIIb mutation in patients with Glanzmann thrombasthenia located in the N‐terminus of blade 1 of the β‐propeller (Asn2Asp) disrupts a calcium binding site in blade 6
PMID: 21029361
Gene: ITGA2B
HGNC: 6138
Note: Although article mention 4 probands being studied, the caption under Fig 1 with the pedigree states, "Shown are three of the four homozygous patients (lanes 2, 4 and 6), heterozygotes" therefore the 4th proband is not mentioned
-
-
www.thieme-connect.com www.thieme-connect.com
-
Glanzmann’s Thrombasthenia: Identification of 19 New Mutations in 30 Patients
PMID: 12083483
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
Created page notes for proband information because the table will not let me highlight the proband info
-
-
ashpublications.org ashpublications.org
-
Labeling of the Internal Pool of GP IIb-IIIa in Platelets by c7E3 Fab Fragments (abciximab): Flow and Endocytic Mechanisms Contribute to the Transport
PMID: 10029591
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a GT patient in another article; however, this article does not specifically mention any GT case reports
PreviouslyPublished: PMID: 2180491 and PMID:
-
-
link.springer.com link.springer.com
-
Glanzmann Thrombasthenia Associated with a 21–Amino Acid Deletion (Leu817-Gln837) in Glycoprotein IIb due to Abnormal Splicing in Exon 25
PMID: 15293575
Gene: ITGA2B
HGNC: 6138
-
-
-
Inherited mutations within the calcium-binding sites of the integrin orIIb subunit (platelet glycoprotein IIb) Effects of the amino acid side chain and the amino acid position on cation binding
PMID: 8925838
Gene: ITGA2B
HGNC: 6138
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov0912.tif1
-
Integrin-Dependent Phosphorylation and Activation of the Protein Tyrosine Kinase pp125 FAr in Platelets
PMID: 1385445
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Human endoglin as a potential new partner involved in platelet–endothelium interactions
PMID: 29080903
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: No mention of patients with Glanzmann thrombasthenia or variants in probands. This article is about endoglin, an adhesion molecule involved in the interaction between endothelial cells and platelets through intigren recognition
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia
PMID: 25827233
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively
InsufficientEvidence: This article analyzed missense variants in the integrin αIIbβ3 receptor subunit genes ITGA2B and ITGB3 identified by WES comprising around 32,000 alleles from 16,108 individuals. There is no specific tie between variants and probands; therefore, there is insufficient evidence
-
-
www.jbc.org www.jbc.org
-
Proteolysis of Platelet Cortactin by Calpain*
PMID: 9235918
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156, respectively
NoEvdidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
link.springer.com link.springer.com
-
Diagnosis of Disorders of Platelet Function by Flow Cytometry
PMID: 12840847
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two probands with GT; however, no variants in ITGA2B and/or ITGB3 were mentioned
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Glanzmann Thrombasthenia: State of the Art and Future Directions
PMID: 23929305
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT; there are several previously published probands; however, there are no new case reports in this article.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A genetic analysis of integrin function: Glanzmannthrombastheniain vitro
PMID: 9050889
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions ITGA2B/ITGB3 variants and has experimental evidence; however, no GT cases reports are mentioned here
Note: Previously published articles are mentioned here, they have been tagged
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Successful unrelated donor cord blood transplantation for Glanzmann’s thrombasthenia Carrie L. Kitko Department of Pediatrics and Internal Medicine, Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MISearch for more papers by this author John E. Levine Department of Pediatrics and Internal Medicine, Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MISearch for more papers by this author Dana C. Matthews Department of Pediatrics, University of Washington, Seattle, WASearch for more papers by this author Paul A. Carpenter Department of Pediatrics, University of Washington, Seattle, WA Fred Hutchinson Cancer Research Center, Seattle, WA, USASearch for more papers by this author
PMID: 19849809
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions patients with GT however no variants in ITGA2B and/or ITGB3 are mentioned here
-
-
www.researchgate.net www.researchgate.netuntitled1
-
Homozygous Point Mutations in Platelet Glycoprotein ITGA2B Gene as Cause of Glanzmann Thrombasthenia in 2 Families
PMID: 22513797
Gene: ITGA2B
HGNC: 6138
Tags
- ClinGen ITGA2B/ITGB3
- inferred_gene_source:hgnc_tag
- HGNC:6138
- ITGA2B
- inferred_gene_hgnc:6138
- ClinGen
- General
Annotators
URL
-
-
reader.elsevier.com reader.elsevier.com
-
EFFECTS OF TICLOPIDINE ON MONOCLONAL ANTI-CD9 ANTIBODY-INDUCED PLATELET AGGREGATION AND MICROPARTICLE GENERATIO
PMID: 1604445
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as shown above
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. In this study, they analyzed the effects of ticloplidine on anti-CD9 antibody-induced platelet aggregation as well as on the release of microparticles by platelets exposed to the antibodies in vitro.
-
-
Local file Local file
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Type II Glanzmann thrombasthenia in a compoundheterozygote for the αIIb gene. A novel missensemutation in exon 27
PMID: 17018384
Gene: ITGA2B
HGNC: 6138
-
-
www.tandfonline.com www.tandfonline.com
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A new variant of Glanzmann's thrombasthenia with defective activation-dependent fibrinogen binding and altered expression of epitopes for several monoclonal antibodies against GP IIb-IIIa
PMID: 21043690
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a GT patient LB with GT; however, no specific variants in ITGA2B and/or ITGB3 are mentioned in this patient therefore there is insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms
PMID: 28948953
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: There are no probands with specific variants-- rather, in this article, 51 patients of Glaznmann thrombasthenia were diagnosed by platelet aggregation studies and were evaluated for the expression of CD41, CD61, CD42a and CD42b on platelet surface by flow cytometry. The association between the clinical phenotype based on bleeding score and GT subtype on flow cytometric evaluation was assessed.
-
-
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Sibling allogeneic bone marrow transplantationin a patient with type I Glanzmann’s thrombasthenia
PMID: 9359503
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression
PMID: 27416581
Gene: ITGA2B
HGNC: 6138
-
-
journals.sagepub.com journals.sagepub.com
-
Clinical, Biochemical, and Molecular Aspects of Glanzmann's Thrombasthenia in Humans and Dogs
PMID: 11355654
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article mentions GT in humans and dogs however there is no specific case report or variants in ITGA2B and/or ITGB3 mentioned
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
TheRoleofvonWillebrandFactorandFibrinogeninPlateletAggregationunderVaryingShearStress
PMID: 2010539
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
Local file Local file
-
Antibody Removal Therapy Used Successfully at Delivery of a Pregnant Patient with Glanzmann’s Thrombasthenia and Multiple Anti-Platelet Antibodies
PMID: 1949709
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
ashpublications.org ashpublications.org
-
Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus
PMID: 12609844
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 2 major mutations in the calf-1 and calf-2 domains of ITGA2B. There are no specific Glanzmann thromasthenia patients mentioned that harbor these specific variants; therefore, there is insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome.
PMID: 9834222
Gene: ITGA2B
HGNC: 6138
NOTE: Curated on Pubmed abstract because blood journal is not saving annotations correctly
-
-
www.ahajournals.org www.ahajournals.org
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Two Types of Procoagulant Platelets Are Formed Upon Physiological Activation and Are Controlled by Integrin αIIbβ3
PMID: 22837472
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Glanzmann Thrombasthenia in Children From Argentina
PMID: 8556365
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 10 GT patients; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
Local file Local file
-
PLATELET TRANSFUSION IN A PATIENT AFFECTED BY GLANZMANN'STHROMBASTHENIA WITH ANTIBODIES AGAINST GPIIb-IIIa
PMID: 9107089
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
www.tandfonline.com www.tandfonline.com
-
Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach
PMID: 29227167
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article is about developing a standardized and modular flow cytometric approach, that contributes to clarify impaired platelet function in a rational step by step manner. There is no mention of variants in probands for ITGA2B or ITGB3
-
-
ashpublications.org ashpublications.org
-
Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia
PMID: 11719373
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B/ITGB3; however, no probands discussed in this article
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Glanzmann's Thrombastenia: The Role of Tranexamic Acid in Oral Surgery
PMID: 30254767
Gene: ITGA2B and/or ITGB3 (Proband diagnosed with Gt therefore these genes may be involved here)
HGNC: 6138 and 6156
InsufficientEvidence: Proband with Glanzmann Thrombasthenia described here however no mention of variants therefore insufficient evidence
-
-
reader.elsevier.com reader.elsevier.com
-
BlockingPlateletAggregationInhibitsThromboxaneA2FormationbyLowDoseAgonistsButDoesNotInhibitPhosphotylationandActivationofCytosolicPhospholipaseA2.
PMID: 9361365
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156, respectively
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3. In this study, they made use of Ro 44-9883 as a potent non-peptide GPIIb/IIIa antagonist to address the relationship of platelet aggregation to PLA2 activation, TxA2 formation, and granule secretion.
-
-
www.jbc.org www.jbc.org
-
Mechanistic Insights from a Refined Three-dimensionalModel of IntegrinIIb3*
PMID: 15056669
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions Glanzmann thrombasthenia variants; however, no patients with GT are mentioned with these variants therefore we have insufficient evidence
-
-
ashpublications.org ashpublications.org
-
Fibrin-Dependent Platelet Procoagulant Activity Requires GPIb Receptors and von Willebrand Factor
PMID: 9885217
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article references a GT patient, which was reported as a case report in another article; however, no specific case reports are mentioned in this article
PreviouslyPublished: PMID: 2014236
-
-
www.jbc.org www.jbc.org
-
Critical Residues of IntegrinaIIb Subunit for Binding ofaIIbb3(Glycoprotein IIb-IIIa) to Fibrinogen and Ligand-mimeticAntibodies (PAC-1, OP-G2, and LJ-CP3)*
PMID: 8702512
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and/or ITGB3; however, there are no Glanzmann thrombasthenia case reports mentioned in this article therefore we have insufficient evidence
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Triple heterozygosity in the integrin αIIb subunit in a patient with Glanzmann's thrombasthenia
PMID: 15099289
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
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Coronary Artery Bypass Grafting in aPatient with Glanzmann’sThrombasthenia
PMID: 16309410
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT'; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Thalidomide for the Treatment of Gastrointestinal Bleeding Due to Angiodysplasia in a Patient with Glanzmann’s Thrombasthenia
PMID: 28670433
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article describes a proband with Glanzmann thrombasthenia; however, there is no mention of variants in ITGA2B and ITGB3 in this proband.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Glanzmann's Thrombasthenia Diagnosed following Knee Arthroscopy
PMID: 26000186
Gene: Patient could have variation in ITGA2B or ITGB3, article does not specify; however, patient has GT so it is implied one of the two genes is involved
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband who was diagnosed with Glanzmann thrombasthenia; however, there is no mention of variants in ITGA2B or ITGB3 in this patient; therefore, we have insufficient evidence
-
-
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
-
Binding of plasma factor XIII to thrombin-receptor activated human platelets
PMID: 19572072
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3
-
-
Local file Local file
-
aIIbG236E causes Glanzmann thrombasthenia by impairingassociation withb3
PMID: 18791937
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
-