A unique phenotype of acquired Glanzmann thrombastheniadue to non-function-blocking anti-aIIbb3 autoantibodies
PMID: 30388316
Gene: ITGA2B and/or ITGB3 (Proband presented with GT therefore these two genes may be involved)
HGNC: 6138 and 6156
InsufficientEvidence: Proband with Glanzmann thrombasthenia presented in this article; however, no variant information provided
Expanding the Mutation Spectrum AffectingαIIbβ3Integrin in Glanzmann Thrombasthenia: Screening of theITGA2BandITGB3Genes in a Large International Cohor
PMID: 25728920
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
Note: In the annotations, case #'s don't always match up with the exact proband #, because not all probands had GT variants identified in them
Type I Glanzmann Thrombasthenia: Most CommonSubtypes in North Indians
PMID: 14508803
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients however no variants in ITGA2B and/or ITGB3 are mentioned in these patients.
In this study the goal was to determine what the common subtype of GT was: The expression of GPIIb/IIIa on the platelet surface was assessed in 10 patients with Glanzmann thrombasthenia and their families by flow cytometry to determine the common subtype in North Indians
Identifying human platelet glycoproteins IIb and IIIa by capillary electrophoresis
PMID: 9694297
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
Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples
PMID: 28299211
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions cases of patients with Glanzmann thrombasthenia and their phenotypes; however, no mention of variants in ITGB3 or ITGA2B
Talin distribution and phosphorylation in thrombin-activated platelets
PMID: 8126100
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands or variants in ITGA2B and ITGB3. In this study, researchers have examined the talin phosphorylation and proteolytic cleavage as possible mechanisms by which talin's subcellular distribution could be regulated in platelets.
A New Case of Acquired Glanzmann’sThrombasthenia: Diagnostic Value ofFlow Cytometry
PMID: 18200593
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 27 year old proband with Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 were mentioned in this proband therefore we have insufficient evidence
A novel Phe171Cys mutation in integrin αIIb causes Glanzmann thrombasthenia by abrogating αIIbβ3 complex formation
PMID: 15219201
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
Ultrastructural analysis of the distribution of the vitronectinreceptor (avb3) in human platelets and megakaryocytes revealsan intracellular pool and labelling of thea-granule membrane
PMID: 9074427
Gene: ITGA2B
HGNC 6156
PreviouslyPublished:The proband in this article is from PMID: 2180491 and the variant this proband has is from PMID: Not available, (Bourre et al. 1990)
Severe Intestinal Bleeding in a Woman with Glanzmann Thrombasthenia
PMID: 30756012
Gene: ITGA2B and/or ITGB3 (Patient has GT; therefore, these two genes may be implicated)
HGNC: 6138 and 6156
InsufficientEvidence: Case report presented here; however, no mention of variants in ITGA2B or ITGB3.
STUDIES OF THE PLATELET FIBRINOGEN RECEPTOR IN GLANZMANN PATIENTS AND UREMIC PATIENTS
PMID: 1412224
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions 2 Glanzmann thrombasthenia patients; however, no variants in ITGA2B and/or ITGB3 are mentioned in the patients. The purpose of this study was to investigate fibrinogen binding to the platelet receptor in normal subjects, patients with GT, and carriers of this disorder, s well as in patients with chronic uremia before and after treatment with recombinant erythropoiten.
Glanzmann’s Thrombasthenia: AnOverview
PMID: 18930954
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article summarizes Glanzmann thrombasthenia (GT); however, there is no mention of GT probands with variants in ITGA2B and/or ITGB3; therefore there is no evidence for our purpose
Novel mutations of integrinaIIb andb3 genes in Turkish children withGlanzmann’s thrombasthenia
PMID: 25734216
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 20 GT patients and variants in ITGA2B and ITGB3, which these patients harbor. However, the variants are not specific to the patient, the article has just listed a table of the variants not identifying them with their respective patients
Sustained engraftment post bone marrow transplant despite anti‐platelet antibodies in Glanzmann thrombasthenia Veronica H. Flood MD Corresponding Author E-mail address: floodv@ohsu.edu Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonDivision of Pediatric Hematology/Oncology, CDRCP, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.===Search for more papers by this author F. Leonard Johnson MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Lynn K. Boshkov MD Department of Pathology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Gregory A. Thomas MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Diane J. Nugent MD Division of Hematology, Children's Hospital of Orange County, Orange, CaliforniaSearch for more papers by this author Antony C. Bakke PhD Department of Pathology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author H. Stacy Nicholson MD, MPH Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author David Tilford MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Mary P. Brown MD Central Oregon Pediatrics, Bend, OregonSearch for more papers by this author Kamar T. Godder MD, MPH Corresponding Author E-mail address: godderk@ohsu.edu Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonDivision of Pediatric Hematology/Oncology, CDRCP, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.===Search for more papers by this author
PMID: 15768382
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 3 probands with Glanzmann thrombasthenia; however, there is no mention of these probands bearing variants in ITGA2B and/or ITGB3; therefore, we have insufficient evidence
Demonstration of a marked reduction in the amount of GPIIb in most type I1 patients with Glanzmann’s thrombasthenia
PMID: 7947235
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article employees a sensitive immunoblot assay, where researchers characterized thrombasthenic platelets from 11 GT patients. There are no specific case reports of these patients, or mention of specific variants in ITGA2B/ITGB3 which these patients harbor, therefore there is insufficient evidence
PreviouslyPublished: Molecular defects in some of these patients has been demonstrated in these articles: Burk et al. 1991; Newman et al, 1991: Kato et al, 1992: Gu et al. 1993
Evaluation of rFVIIa (NovoSeven) in Glanzmann patients with thromboelastogram
PMID: 18070065
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Glanzmann thrombasthenia patients are mentioned in this article; however, variants in ITGA2B and/or ITGB3 are not mentioned in patients
Immunisation against IIb3 and v3 in a type 1 variant of Glanzmann’s thrombasthenia caused by a missense mutation Gly540Asp on 3
PMID: 27098940
Gene: ITGB3
HGNC: 6156
A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIbβ3 to an active state
PMID: 22136613
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, no individual probands are mentioned
Classification of Iranian patients with Glanzmann's Thrombasthenia using a flow cytometric method
PMID: 21526886
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention individual probands with variants in ITGA2B and ITGB3; however, the article mentions a cohort of GT patients.
Rapid Heterozygote Detection in Glanzmann's Thrombasthenia
PMID: 9576183
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156, respectively
InsufficientEvidence: This article mentions several patients with GT; however, no variants in ITGA2B and/or ITGB3 therefore we have insufficient evidence
Ser-752->Promutationinthecytoplasmicdomainofintegrin.83subunitanddefectiveactivationofplateletintegrinaIlbP3(glycoproteinlib-Illa)inavariantofGlanzmannthrombasthenia
PMID: 1438206
Gene: ITGB3
HGNC: 6156
A Defect of Platelet Aggregation Associated With an Abnormal Distribution of Glycoprotein IIb-IIIa Complexes Within the Platelet: The Cause of a Lifelong Bleeding Disorder
PMID: 1638023
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
Occurrence of thrombosis in congenital thrombocytopenic disorders: a critical annotation of the literature.
PMID: 23037321
Gene: ITGB3
HGNC: 6156
Platelet function tests using plateletaggregometry: need for repetition of the test fordiagnosis of defective platelet function
PMID: 14602548
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is mentions a cohort of 497 patients referred to their laboratory from all over Mumbai for investigation of spontaneous mucocutaneous bleeding. 61 of these patnets had Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 were mentioned in these patients therefore there is insufficient evidence
Characterization of a new hereditary thrombopathy in a closed colony of Wistar rats
PMID: 8960644
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. This study identifies and partially characterizes an inherited thrombopathy in a closed colony of Wistar rats.
Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report
PMID: 30534006
Gene: ITGA2B and/or ITGB3 (Proband has GT; therefore, these two genes may be involved)
HGNC: 6138 and 6156
InsufficientEvidence: Proband with acquired Glanzmann thrombasthenia presented here; however, no mention of any variants therefore insufficient evidence
Characterization of the cDNA Encoding αIIb and β3 in Normal Horses and Two Horses with Glanzmann Thrombasthenia
PMID: 16407493
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a variant in ITGA2B/ITGB3 however in horses not humans
Glanzmann's thrombasthenia: report of a case and review of the literature
PMID: 20490335
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a Peurto Rican female with GT; however, no variants in ITGA2B or ITGB3 are reported in this patient
REPERTOIRE CLONING OF A HUMAN Molecular Immunology, Vol. 32, No. 9, pp. 613-622, 1995 Copyright 0 1995 Elsevier Science Ltd Printed in Great Britain. All rights reserved 0161~5890/95 $9.50 + 0.00 IgG INHIBITOR OF a,,& FUNCTION. THE OG IDIOTYPE
PMID: 7543974
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 in this proband
The Journal of Emergency Medicine, Vol 14, No 3. pp 29Y-303. 1996 Copyright 0 1996 Elsevier Science Inc. Printed in the USA. All rights reserved 0736.4679N6 $lS.On -a- .O
PMID: 8782023
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
Note: Hypothes.is would not let me highlight the title of the article so I highlighted the journal
Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA.
PMID: 8471765
Gene: ITGB3
HGNC 6156
GLYCOPROTEIN h/Ha-MEDIATED ACTIVATION-DEPENDENT PLATELET ADHESION TO COLLAGEN
PMID: 1579893
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. In this study, they developed an assay method of platelet adhesion to collagen in which citrated platelet rich plasma could be used as well as washed platelets in the presence of anti GPIIb/IIIa monoclonal antibody. Here, they provided the first direct evidence that the activation depended platelet adhesion to collagen is induced by ADP and that this adhesion is also mediated by GPIa/IIa.
Dissociation between fibrinogen and fibrin interaction with platelets in patients with different subtypes of Glanzmann's thrombasthenia: studies in an ex vivo perfusion chamber model
PMID: 12472580
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article does not mention any new case reports of GT; however, there are previously published probands mentioned in this article; therefore, there is insufficient evidence.
PreviouslyPublished: PMID: 2180491, 9226191, 3818957, 7509233
A unique combination of inhibitory and partially activating mutations inb3 of a patient with variant-type Glanzmann thrombasthenia
PMID: 20438394
Gene: ITGB3
HGNC:6156
A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations
PMID: 29439184
Gene: ITGB3
HGNC: 6156
DDAVP infusion can modify VASP phosphorylation in humanplatelets
PMID: 15102025
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions "a platelet defect as a heterozygous Glanzmann thrombasthenia" however unable to access the article they cited after that sentence to get further information on the heterozygous variant
Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein αIIbβ3 (GPIIb/IIIa) and αvβ3 Receptors Are Not Protected From Atherosclerosis
PMID: 11877352
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients and 2 variants in ITGA2B and/or ITGB3 that have been seen in these patients; however, there is no direct correlation for which patients harbor which variant; therefore there is insufficient evidence
"Five were homozygous for the 11-bp deletion in the β3 gene11 and 2 were homozygous for a splice site mutation of the αIIb gene"
Molecular basis ofGlanzmann’sThrombasthenia andcurrent strategies intreatment
PMID: 12163005
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT.
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients E. J. R. NELSON Departments of HematologySearch for more papers by this author S. C. NAIR Clinical Pathology, Christian Medical College, Vellore, IndiaSearch for more papers by this author H. PERETZ Clinical Biochemistry Laboratory, Tel Aviv Sourasky Medical Center, Tel‐Aviv, IsraelSearch for more papers by this author B. S. COLLER Laboratory of Blood and Vascular Biology, The Rockefeller University, New York, NY, USASearch for more papers by this author U. SELIGSOHN Institute of Thrombosis and Hemostasis, The Chaim Sheba Medical Center, Tel‐Hashomer, IsraelSearch for more papers by this author M. CHANDY Departments of HematologySearch for more papers by this author A. SRIVASTAVA Departments of HematologySearch for more papers by this author
PMID: 16879215
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
Independent adjudicator assessments of platelet refractorinessand rFVIIa efficacy in bleeding episodes and surgeries from themultinational Glanzmann’s thrombasthenia registry
PMID: 28370369
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: No GT probands or variants within ITGA2B or ITGB3 mentioned in this article
Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor VLeiden and Heterozygous MTHFR C677T Gene Mutations
PMID: 30819996
Gene: ITGA2B and/or ITGB3 (Proband has GT; therefore, one of these variants may be implicated)
HGNC: 6138 and 6156
InsufficientEvidence: Case report presented in this article with Glanzmann thrombasthenia; however, sequencing reveals differential diagnosis to GT, with mutations in other genes.
Acquired Glanzmann's thrombasthenia caused by glycoprotein IIb/IIIa autoantibodies of the immunoglobulin G1 (IgG1), IgG2 or IgG4 subclass: a study in six cases.
PMID: 19138263
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, no mention of variants in ITGA2B and/or ITGB3
Note: Full-text found on UNC library website-- was not able to annotate on that document therefore annotation found here
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations
PMID: 25373348
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
Acquired Glanzmann’s Thrombasthenia Associatedwith Hodgkin’s Lymphoma
PMID: 9576300
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
Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization
PMID: 10673707
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
PMA induces platelet activation of specificantigens (CD62/CD63) in GpIIb-IIIa deficientplatelets from Glanzmann's thrombasthenia
PMID: 16793673
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions individuals with Glanzmann thrombasthenia; however, the probands don't have variants in ITGAB and/or ITGB3 mentioned
Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann’s Thrombasthenia
PMID: 28161816
Gene: ITGA2B and ITGB3
HGNC 6138 and 6156
NoEvidence: The aim of this article's study was to evaluate the clinicopathological spectrum of this syndrome and to study the platelet glycoprotein IIb/IIIa complex and platelet antibodies by flow cytometry in a cohort of children with GT in a tertiary care center in Upper Egypt. There is no mention of individual probands with variants in ITGA2B or ITGB3
Acquired Glanzmann’s thrombasthenia associated with Hairy cell leukaemia M. Kannan All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author T. Chatterjee All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author F. Ahmad All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. Kumar DR BRA IRCH, New Delhi, IndiaSearch for more papers by this author V. P. Choudhry All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. Saxena All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author
PMID: 19594615
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with Hairy cell leukemia who presented with bleeding diathesis diagnosed to have acquired GT. There is no mention of ITGA2B/ ITGB3 variants in this individual.
ANEWMETHODFORQUANTITATIVEANALYSISOFWHOLEBLOODPLATELETINTERACTIONWITHEXTRACELLULARMATRIXUNDERFLOWCONDITIONS
PMID: 9062952
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
Fetal‐neonatal alloimmune thrombocytopenia and unexpected Glanzmann thrombasthenia carrier: report of two cases
PMID: 15819676
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
ORIGINAL ARTICLEMutations in GPIIIa molecule as a cause for Glanzmannthrombasthenia in Indian patients
PMID: 15748237
Gene: ITGA2B and ITGB3
HGNC: 6138 and 1656
InsufficientEvidence: This article mentions 22 GT patients and variants, which these patients harbor; however, the article does not specify which patient harbors which variants therefore there is insufficient evidence
The β3 subunit of the integrin αIIbβ3 regulates αIIb-mediated outside-in signaling
PMID: 15701721
Gene: ITGB3
HGNC: 6156
Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin β1 and β3 in platelet adhesion to collagen
PMID: 22065596
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention probands or variants in ITGA2B or ITGB3; however, there are some experimental assays for consideration
Upregulation of osteoclast α2β1 integrin compensates for lack of αvβ3 vitronectin receptor in Iraqi‐Jewish‐type Glanzmann thrombasthenia
PMID: 12956766
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients; however, there are no variants presented in ITGA2B and/or ITGB3
L718P mutation in the membrane-proximal cytoplasmic tail of β3 promotes abnormal αIIbβ3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype
PMID: 20081061
Gene: ITGB3
HGNC: 6156
Severe and Relapsing Upper GastrointestinalBleeding in a Patient withGlanzmann’s Thrombasthenia
PMID: 10749344
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient (Patient DM, 55 year old); however, no variants in ITGA2B and/or ITGB3 were mentioned in this proband therefore there is insufficient evidence
A Leu117rTrp Mutation Within the RGD-Peptide Cross-Linking Region ofb3 Results in Glanzmann Thrombasthenia by PreventingaIIbb3 Export tothe Platelet Surface
PMID: 9376589
Gene: ITGB3
HGNC: 6156
Therapeutic expression of the platelet-specific integrin, αIIbβ3, in a murine model for Glanzmann thrombasthenia
PMID:* 15972454
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
Note: This article investigated the practicality of gene therapy for correcting molecular defects in platelets, and targeted expression of the human integrin β3-subunit in megakaryocytes of β3–/– mice affected with GT. Although, this does not apply to the Platelet Disorder VCEP functional criteria, this could be useful experimental assay information as this deals with mouse models
A variant thrombasthenic phenotype associated with compound heterozygosity of integrinβ3-subunit:(Met124Val)β3 alters the subunit dimerization rendering adecreased number of constitutive active αIIbβ3 receptors
PMID: 15583747
Gene: ITGB3
HGNC: 6156
Low Concentrations of Recombinant Factor VIIaMay Improve the Impaired Thrombin Generationof Glanzmann Thrombasthenia Patients
PMID: 30597506
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
Interesting variations on how a disease is defined: comparisonsof von Willebrand disease and Glanzmann thrombasthenia
PMID: 17166245
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
Recognition and management of platelet-refractory bleeding in patients with Glanzmann’s thrombasthenia and other severe platelet function disorders
PMID: 28435309
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article reviews the rFVIIa clinical data in patients with GT and platelet refractoriness and discusses clinical implications relevant to the hospital-based physician. This article does not mention probands with variants in ITGA2B or ITGB3
Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients M. FIORE Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author N. FIRAH Hôpital des Enfants ‐ Hôpital Pellegrin – CHU Bordeaux, Unité d’Hématologie Pédiatrique, BordeauxSearch for more papers by this author X. PILLOIS Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author P. NURDEN Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author R. HEILIG Genoscope, Centre National de Séquençage, 91000, Evry, FranceSearch for more papers by this author A. T. NURDEN Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author
PMID: 22250950
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
The platelet fibrinogen receptor: from megakaryocyte to the mortuary
PMID: 24175064
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a variant; however, not in a human.
Nutritional Zinc Increases Platelet Reactivity
PMID: 1951315
Gene: ITGA2B and ITBG3
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
Association of thrombospondin-1 with the actin cytoskeleton of humanthrombin-activated platelets through anaIIbb3- or CD36-independentmechanism
PMID: 11964147
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient who was studied; however, the patient did not have variants in ITGA2B and/or ITGB3 mentioned in this article, therefore there is insufficient evidence
Real-Time Analysis of Mural Thrombus Formation in Various Platelet Aggregation Disorders: Distinct Shear-Dependent Roles of Platelet Receptors and Adhesive Proteins Under Flow
PMID: 10419888
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 3Glanzmann thrombasthenia patients; however, there is no mention of variants in ITGA2B and/or ITGB3 within these patients; therefore, there is insufficient evidence. In the present study, they observed the real-time process of mural thrombogenesis on a type 1 collagen coated surface under flow conditions with various shear rates in the blood of patients with major congenital platelet aggregation disorders
Congenital platelet disorders and understanding of plateletfunction
PMID: 24286193
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there are no probands with these variants mentioned in this article. Article mentions, "Due to space restrictions, single case reports have mostly been omitted, as have many historical reports with no recent update"
PMID: 7492773
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention a GT case report with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. This article has studied the role of vWF in the interaction of platelets with fibrin under flow conditions.
Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann’s Thrombasthenia: illustrated case series
PMID: 29486748
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: There are two probands in this article with Glanzmann thrombasthenia; however, no mention of variants in these two patients and no mention of ITGA2B or ITBG3 genes
Glanzmann's Thrombasthenia
PMID: 11450390
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two probands with Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 are mentioned in these probands therefore we have insufficient evidence
Protein A Sepharose immunoadsorption can restore the efficacy of platelet concentrates in patients with Glanzmann's thrombasthenia and anti‐glycoprotein IIb–IIIa antibodies Isabelle Martin Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Fayçal Kriaa Service de Néphrologie, CHU Kremlin Bicêtre, Assistance Publique‐Hôpitaux de Paris and Faculté de Médecine Paris XI, Le Kremlin‐Bicêtre,Search for more papers by this author Valérie Proulle Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Benoît Guillet Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Cécile Kaplan Laboratoire d'Immunologie Plaquettaire, INTS,Search for more papers by this author Roseline D'Oiron Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Marianne Debré Unité d'Hématologie et d'Immunologie Pédiatrique, Hôpital Necker‐Enfants Malades, Paris, andSearch for more papers by this author Edith Fressinaud Laboratoire d'Hématologie, Centre Hospitalier Régional de Nantes, FranceSearch for more papers by this author Yyes Laurian Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Gil Tchernia Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Bernard Charpentier Service de Néphrologie, CHU Kremlin Bicêtre, Assistance Publique‐Hôpitaux de Paris and Faculté de Médecine Paris XI, Le Kremlin‐Bicêtre,Search for more papers by this author Thierry Lambert Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Marie Dreyfus Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author
PMID: 12472579
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT probands; however, there is no mention of these patients harboring variants in ITGA2B and/or ITGB3; therefore, we have insufficient evidence
ADeletionintheGeneforGlycoproteinlibAssociatedwithGlanzmann'sThrombasthenia
PMID: 1702098
Gene: ITGA2B
HGNC: 6156
Molecular Diversity of Glanzmann Thrombastheniain Southern India: New Insights Into mRNASplicing and Structure–Function CorrelationsofaIIbb3 Integrin (ITGA2B, ITGB3)
PMID: 16463284
Gene: ITGA2B and ITGB3
HGNC: 6156 and 6156
Truncation of the Cytoplasmic Domain of b3 in a Variant Form of Glanzmann Thrombasthenia Abrogates Signaling through the Integrin aIIbb3 Complex
PMID: 9351872
Gene: ITGB3
HGNC: 6156
AnInheritedBleedingDisorderLinkedtoaDefectiveInteractionbetweenADPandItsReceptoronPlatelets
PMID: 7706468
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
Red blood cell transfusion in patients with type 1 Glanzmann’sthrombasthenia
PMID: 16194208
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, there is no mention of variants in ITGA2B and/or ITGB3, therefore we have insufficient evidence
Identification of the integrinb3 L718P mutation in a pedigreewith autosomal dominant thrombocytopenia with anisocytosis
PMID: 23253071
Gene: ITGB3
HGNC: 6156
Perioperative Management of a Heterozygous Carrier of Glanzmann’s Thrombasthenia Submitted to Coronary Artery Bypass Grafting With Cardiopulmonary Bypass
PMID: 16861409
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
ANewVariantofGlanzmann'sThrombasthenia(StrasbourgI)
PMID: 1602006
Gene: ITGB3
HGNC: 6156
In silico analysis of Glanzmann variants of Calf-1 domain of αIIbβ3 integrin revealed dynamic allosteric effect
PMID: 28808266
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 7 Glanzmann thrombasthenia variants that were identified in a long independent molecular dynamics simulation. There are no probands with these variants mentioned.
Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia
PMID: 31088191
Gene: ITGB3
HGNC: 6156
Inherited Bleeding Disorders in the Obstetric Patient
PMID: 30097224
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mentions Glanzmann thrombasthenia probands or vairants
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations
PMID: 26096001
Gene: ITGB3 and ITGA2B
HGNC: 6156 and 6138, respectively as shown above
Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment
PMID: 23146053
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions many variants in ITGA2B and ITGB3; however, no probands are mentioned in this review.
DISORDERS OF PLATELET FUNCTION
PMID: 1321709
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on Glanzmann thrombasthenia, it does not mention specific patients or variants in ITGA2B and/or ITGB3; however, it does mention probands in other papers
PreviouslyPublished: PMID: 1702098, 1967954
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study
PMID: 25539746
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
The biologic and clinical spectrum of Glanzmann’s Thrombasthenia:implications of integrinaIIbb3for its pathogenesis
PMID: 9246538
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review and goes over many patients from the Glanzmann thrombasthenia database https://glanzmann.mcw.edu/
PreviouslyPublished: All these probands have been previously published in the GT database https://glanzmann.mcw.edu/ please search the database to get info. There are no "new' case reports in this article
Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype
PMID: 24498605
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
QUANTITATIVE ISOLATION OF RNA FROM HUMAN PLATELETS.
PMID: 1716379
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
Perioperative management of Glanzmann's syndrome: how we did it!
PMID: 20182353
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with GT; however, there is no mention of ITGA2B and/or ITGB3 variants in this individual
Platelet aggregation induced by the C‐terminal peptide of thrombospondin‐1 requires the docking protein LAT but is largely independent of αIIb/β3 C. Trumel INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author M. Plantavid INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author S. Lévy‐Tolédano INSERM, Unité 348, Hôpital Lariboisière, Paris;Search for more papers by this author A. Ragab INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author J. P. Caen IVS, Hôpital Lariboisière, Paris; andSearch for more papers by this author E. Aguado Center d'Immunologie de Marseille‐Luminy, INSERM‐CNRS‐University Medical Case 906, Marseille, FranceSearch for more papers by this author B. Malissen Center d'Immunologie de Marseille‐Luminy, INSERM‐CNRS‐University Medical Case 906, Marseille, FranceSearch for more papers by this author B. Payrastre INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author
PMID: 12871507
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, there are no variants in ITGA2B and/or ITGB3, in these probands noted in the article
Inhibitory and activating human antiplatelet antibodies
PMID: 10097812
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
Severe Proximal Deep Vein Thrombosis in a Glanzmann Thrombasthenia Variant Successfully Treated With a Low Molecular Weight Heparin
PMID: 9226191
Gene: ITGB3
HGNC: 6156
Monitoring survival and function of transfused platelets in Glanzmann thrombasthenia by flow cytometry and thrombelastography
PMID: 16907879
Gene: ITGB3
HGNC: 6156
Osteopetrosis and Glanzmanns thrombasthenia in a child
PMID: 12707732
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient with osteoporosis; however, the article does not mention specific variants in ITGA2B and/or ITGB3 in the proband. Rather, the discussion mentions other variants in ITGA2B and/or ITGB3 therefore we have insufficient evidence
The use of recombinant FVIIa in a patient with Glanzmann thrombasthenia with uncontrolled bleeding after tonsillectomy.
PMID: 19657319
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a patient with GT; however, no variants in ITGA2B and/or ITGB3 mentioned here
Procoagulant Platelets Form an α-Granule Protein-covered “Cap” on Their Surface That Promotes Their Attachment to Aggregates*
PMID: 23995838
Gene: ITGB3
HGNC: 6156
The Role of the Platelet Glycoprotein IIb/IIIa in Thrombosis andHaemostasis
PMID: 15134555
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients or variants in ITAG2B and/or ITGB3. This article gives more background on the molecular mechanisms of Glanzmann thrombasthenia
Linkage disequilibrium amongstITGA2BandITGB3genevariants in patients with Glanzmann thrombasthenia confirmsthat most disease-causing mutations are recent
PMID: 27469266
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
See Page Notes for Supplementary Data
AVariantFormofThrombasthenia
PMID: 1908636
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