A Novel Leukocyte Adhesion Deficiency III Variant:Kindlin-3 Deficiency Results in Integrin- andNonintegrin-Related Defects in Different Steps of LeukocyteAdhesion
PMID: 21441448
Gene: ITGA2B
HGNC: 6138
49 Matching Annotations
- Last 7 days
-
www.jimmunol.org www.jimmunol.org
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
-
-
www.thieme-connect.com www.thieme-connect.com
-
Low Concentrations of Recombinant Factor VIIaMay Improve the Impaired Thrombin Generationof Glanzmann Thrombasthenia Patients
PMID: 30597506
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
Local file Local file
-
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
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
-
-
Local file Local file
-
Bilateral linkage between a new deletion polymorphism in intron 21 of the GP IIb gene and the HPA-3b (Bakb) determinant
PMID: 8555087
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, there are no specific case reports in this article, rather a large cohort that was tested
-
-
www.sciencedirect.com www.sciencedirect.com
-
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression
PMID: 28232155
Gene: ITGA2B
HGNC: 6138
-
-
europepmc.org europepmc.org
-
In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.
PMID: 29385657
Gene: ITGA2B
HGNC: 6138
See Page Notes for Supplemental Proband Data
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
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
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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.
-
-
Local file Local file
-
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
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
-
-
ashpublications.org ashpublications.org
-
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
-
-
Local file Local file
-
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"
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
-
-
link.springer.com link.springer.com
-
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
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
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
-
-
Local file Local fileuntitled1
-
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
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
-
-
Local file Local file
-
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
-
-
www.thieme-connect.com www.thieme-connect.com
-
Alloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard–Soulier's Syndrome
PMID: 29879742
Gene:ITGA2B
HGNC: 6138
InsufficientEvidence Variant IVS15(+1)G > A mutation in ITGA2B is mentioned in this article; however, no proband to tie variant to therefore we have insufficient evidence
-
-
Local file Local file
-
Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high- resolution melting analysis
PMID: 20886184
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: Variant mentioned here; however, specific proband information is not provided here, probands are clumped together in cohort
-
-
www.haematologica.org www.haematologica.org
-
Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia
PMID: 17488698
Gene: ITGA2B
HGNC: 6138
-
-
reader.elsevier.com reader.elsevier.com
-
Triplejeopardy:AcaseofGlanzmann'sthrombastheniawithanti-GPIIb-IIIaantibodiesandHPAincompatibilityresultinginstillbirth
PMID: 31404847
Gene: ITGA2B
HGNC: 6138
-
-
journals.lww.com journals.lww.com
-
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
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense‐mediated decay of GPIIb‐mRNA, and type II Glanzmann's thrombasthenia C. González‐Manchón Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author E. G. Arias‐Salgado Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author N. Butta Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author G. Martín Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author R. B. Rodríguez Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author I. Elalamy Service d'Hématologie Biologique, Hôpital d'Enfants A Trousseau, Paris, FranceSearch for more papers by this author R. Parrilla Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author R. Favier Service d'Hématologie Biologique, Hôpital d'Enfants A Trousseau, Paris, FranceSearch for more papers by this author
PMID: 12871379
Gene: ITGA2B
HGNC: 6138
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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.
-
-
reader.elsevier.com reader.elsevier.com
-
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
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
-
-
www.tandfonline.com www.tandfonline.com
-
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.
-
-
reader.elsevier.com reader.elsevier.com
-
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
-
-
ojrd-biomedcentral-com.libproxy.lib.unc.edu ojrd-biomedcentral-com.libproxy.lib.unc.edu
-
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
-
-
reader.elsevier.com reader.elsevier.comPII: S101
-
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
-
-
www.jbc.org.libproxy.lib.unc.edu www.jbc.org.libproxy.lib.unc.edu
-
A Single Amino Acid Substitution Flanking the Fourth Calcium Binding Domain of aIm Prevents Maturation of the aImp, Integrin Complex
PMID: 7508443
Gene: ITGA2B
HGNC: 6138
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
-
-
reader.elsevier.com reader.elsevier.com
-
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
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
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
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia.
PMID: 20819594
Gene: ITGA2B
HGNC: 6138
-
-
pdf.sciencedirectassets.com pdf.sciencedirectassets.com
-
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
-
-
www.thieme-connect.com www.thieme-connect.com
-
Phosphatidylserine exposure, microparticle formation and mitochondrial depolarisation in Glanzmann thrombasthenia platelets
PMID: 24477274
Gene: ITGA2B
HGNC: 6138
-
-
link.springer.com link.springer.com
-
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
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
-
-
Local file Local file
-
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
-
-
www.thieme-connect.com www.thieme-connect.com
-
Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B
PMID: 29385657
Gene: ITGA2B
HGNC: 6138
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the αIIb gene to be strongly linked to the HPA‐1b polymorphism in β3
PMID: 12871468
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
-
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
-
-
Local file Local file
-
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
-