{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T09:02:53Z","timestamp":1792918973486,"version":"4.5.0"},"reference-count":115,"publisher":"Georg Thieme Verlag KG","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Semin Thromb Hemost"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glanzmann thrombasthenia (GT) is the most common inherited platelet disorder (IPD) with mucocutaneous bleeding and a failure of platelets to aggregate when stimulated. The molecular cause is insufficient or defective \u03b1IIb\u03b23, an integrin encoded by the ITGA2B and ITGB3 genes. On activation \u03b1IIb\u03b23 undergoes conformational changes and binds fibrinogen (Fg) and other proteins to join platelets in the aggregate. The application of next-generation sequencing (NGS) to patients with IPDs has accelerated genotyping for GT; progress accompanied by improved mutation curation. The evaluation by NGS of variants in other hemostasis and vascular genes is a major step toward understanding why bleeding varies so much between patients. The recently discovered role for glycoprotein VI in thrombus formation, through its binding to fibrin and surface-bound Fg, may offer a mechanosensitive back-up for \u03b1IIb\u03b23, especially at sites of inflammation. The setting up of national networks for IPDs and GT is improving patient care. Hematopoietic stem cell therapy provides a long-term cure for severe cases; however, prophylaxis by monoclonal antibodies designed to accelerate fibrin formation at injured sites in the vasculature is a promising development. Gene therapy using lentil-virus vectors remains a future option with CRISPR\/Cas9 technologies offering a promising alternative route.<\/jats:p>","DOI":"10.1055\/s-0044-1782519","type":"journal-article","created":{"date-parts":[[2024,3,19]],"date-time":"2024-03-19T00:12:47Z","timestamp":1710807167000},"page":"196-208","source":"Crossref","is-referenced-by-count":11,"title":["Glanzmann Thrombasthenia 10 Years Later: Progress Made and Future Directions"],"prefix":"10.1055","volume":"51","author":[{"given":"Alan T.","family":"Nurden","sequence":"additional","affiliation":[{"name":"Institut Hospitalo-Universitaire LIRYC, H\u00f4pital Xavier Arnozan, Pessac, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paquita","family":"Nurden","sequence":"additional","affiliation":[{"name":"Institut Hospitalo-Universitaire LIRYC, H\u00f4pital Xavier Arnozan, Pessac, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2024,3,18]]},"reference":[{"issue":"06","key":"ref1","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1055\/s-0033-1353393","article-title":"Glanzmann thrombasthenia: state of the art and future directions","volume":"39","author":"A T Nurden","year":"2013","journal-title":"Semin Thromb Hemost"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"888","DOI":"10.3324\/haematol.2018.214239","article-title":"Glanzmann thrombasthenia: genetic basis and clinical correlates","volume":"105","author":"J P Botero","year":"2020","journal-title":"Haematologica"},{"issue":"02","key":"ref3","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3324\/haematol.2020.248153","article-title":"Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy","volume":"106","author":"P Nurden","year":"2021","journal-title":"Haematologica"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"581","DOI":"10.2147\/JBM.S273053","article-title":"Profiling the genetic and molecular characteristics of Glanzmann thrombasthenia: can it guide current and future therapies?","volume":"12","author":"A Nurden","year":"2021","journal-title":"J Blood Med"},{"issue":"05","key":"ref5","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.blre.2017.03.005","article-title":"Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?","volume":"31","author":"A T Nurden","year":"2017","journal-title":"Blood Rev"},{"issue":"03","key":"ref6","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1111\/jth.14683","article-title":"Validation of the ISTH\/SSC bleeding assessment tool for inherited platelet disorders: a communication from the Platelet Physiology SSC","volume":"18","author":"P Gresele","year":"2020","journal-title":"J Thromb Haemost"},{"issue":"10","key":"ref7","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1002\/ajh.25910","article-title":"Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects","volume":"95","author":"M W Blaauwgeers","year":"2020","journal-title":"Am J Hematol"},{"issue":"08","key":"ref8","doi-asserted-by":"crossref","first-page":"3011","DOI":"10.1182\/blood-2008-06-077891","article-title":"The GPIIb\/IIIa (integrin alphaIIbbeta3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend","volume":"112","author":"B S Coller","year":"2008","journal-title":"Blood"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.thromres.2022.08.010","article-title":"Molecular basis of clot retraction and its role in wound healing","volume":"231","author":"A T Nurden","year":"2023","journal-title":"Thromb Res"},{"issue":"05","key":"ref10","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/humu.22776","article-title":"Expanding the mutation spectrum affecting \u03b1IIb\u03b23 integrin in Glanzmann thrombasthenia: screening of the ITGA2B and ITGB3 genes in a large international cohort","volume":"36","author":"A T Nurden","year":"2015","journal-title":"Hum Mutat"},{"issue":"15","key":"ref11","doi-asserted-by":"crossref","first-page":"E1898","DOI":"10.1073\/pnas.1422238112","article-title":"\u03b1IIb\u03b23 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia","volume":"112","author":"L Buitrago","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"01","key":"ref12","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1080\/09537104.2017.1371291","article-title":"ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia","volume":"29","author":"A T Nurden","year":"2018","journal-title":"Platelets"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1126\/science.1064535","article-title":"Crystal structure of the extracellular segment of integrin \u03b1Vbeta3","volume":"294","author":"J P Xiong","year":"2001","journal-title":"Science"},{"issue":"07","key":"ref14","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1083\/jcb.201212037","article-title":"Complete integrin headpiece opening in eight steps","volume":"201","author":"J Zhu","year":"2013","journal-title":"J Cell Biol"},{"issue":"01","key":"ref15","doi-asserted-by":"crossref","first-page":"4168","DOI":"10.1038\/s41467-023-39763-0","article-title":"Cryo-EM structures of full-length integrin \u03b1IIb\u03b23 in native lipids","volume":"14","author":"B D Adair","year":"2023","journal-title":"Nat Commun"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.blre.2019.03.004","article-title":"Acquired Glanzmann thrombasthenia: from antibodies to anti-platelet drugs","volume":"36","author":"A T Nurden","year":"2019","journal-title":"Blood Rev"},{"issue":"04","key":"ref17","doi-asserted-by":"crossref","first-page":"937","DOI":"10.3324\/haematol.2023.282836","article-title":"The GPIIb-IIIa defect of platelets in Glanzmann thrombasthenia","volume":"108","author":"A T Nurden","year":"2023","journal-title":"Haematologica"},{"issue":"07","key":"ref18","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1111\/jth.13729","article-title":"Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders","volume":"15","author":"A Greinacher","year":"2017","journal-title":"J Thromb Haemost"},{"issue":"05","key":"ref19","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1182\/blood-2015-02-629717","article-title":"Platelet glycoprotein VI binds to polymerized fibrin and promotes thrombin generation","volume":"126","author":"E Mammadova-Bach","year":"2015","journal-title":"Blood"},{"issue":"05","key":"ref20","doi-asserted-by":"crossref","first-page":"898","DOI":"10.3324\/haematol.2017.182972","article-title":"Immobilized fibrinogen activates human platelets through glycoprotein VI","volume":"103","author":"P H Mangin","year":"2018","journal-title":"Haematologica"},{"issue":"07","key":"ref21","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1016\/j.jtha.2023.03.022","article-title":"Glycoprotein VI interplay with fibrin(ogen) in thrombosis","volume":"21","author":"P H Mangin","year":"2023","journal-title":"J Thromb Haemost"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"100592","DOI":"10.1016\/j.blre.2019.100592","article-title":"Clinical significance of altered collagen-receptor functioning in platelets with emphasis on glycoprotein VI","volume":"38","author":"A T Nurden","year":"2019","journal-title":"Blood Rev"},{"issue":"02","key":"ref23","doi-asserted-by":"crossref","first-page":"e97","DOI":"10.1161\/ATVBAHA.120.314641","article-title":"Nonredundant roles of platelet glycoprotein VI and integrin alphaIIbbeta3 in fibrin-mediated microthrombus formation","volume":"41","author":"G Perrella","year":"2021","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"01","key":"ref24","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/s41467-019-13928-2","article-title":"Structure-guided design of pure orthosteric inhibitors of \u03b1IIb\u03b23 that prevent thrombosis but preserve hemostasis","volume":"11","author":"B D Adair","year":"2020","journal-title":"Nat Commun"},{"issue":"20","key":"ref25","doi-asserted-by":"crossref","first-page":"3986","DOI":"10.1182\/bloodadvances.2021005142","article-title":"Platelet binding to polymerizing fibrin is avidity driven and requires activated \u03b1IIb\u03b23 but not fibrin cross-linking","volume":"5","author":"L Buitrago","year":"2021","journal-title":"Blood Adv"},{"issue":"01","key":"ref26","doi-asserted-by":"crossref","first-page":"5428","DOI":"10.1038\/s41598-018-23684-w","article-title":"Morphometric analysis of spread platelets identifies integrin \u03b1IIb\u03b23-specific contractile phenotype","volume":"8","author":"S Lickert","year":"2018","journal-title":"Sci Rep"},{"issue":"04","key":"ref27","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1046\/j.1365-2141.2002.03758.x","article-title":"A Ser752\u2013>Pro substitution in the cytoplasmic domain of \u03b23 in a Glanzmann thrombasthenia variant fails to prevent interactions between the alphaIIbbeta3 integrin and the platelet granule pool of fibrinogen","volume":"118","author":"P Nurden","year":"2002","journal-title":"Br J Haematol"},{"issue":"01","key":"ref28","doi-asserted-by":"crossref","first-page":"2362","DOI":"10.1038\/s41467-022-30117-w","article-title":"Mechanism of integrin activation by talin and its cooperation with kindlin","volume":"13","author":"F Lu","year":"2022","journal-title":"Nat Commun"},{"issue":"13","key":"ref29","doi-asserted-by":"crossref","first-page":"3180","DOI":"10.1182\/bloodadvances.2022009495","article-title":"A single F153S\u03b23 mutation causes constitutive integrin \u03b1IIb\u03b23 activation in a variant form of Glanzmann thrombasthenia","volume":"7","author":"S B Koukouritaki","year":"2023","journal-title":"Blood Adv"},{"issue":"01","key":"ref30","doi-asserted-by":"crossref","first-page":"100023","DOI":"10.1016\/j.rpth.2022.100023","article-title":"Blood clot contraction: Mechanisms, pathophysiology, and disease","volume":"7","author":"R I Litvinov","year":"2022","journal-title":"Res Pract Thromb Haemost"},{"issue":"09","key":"ref31","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1161\/ATVBAHA.122.318767","article-title":"Antagonistic roles of \u03b1 II b\u03b23 and chemokines in regulating neutrophil activation and fate on arterial thrombi under flow","volume":"43","author":"C Sch\u00f6nichen","year":"2023","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"17","key":"ref32","doi-asserted-by":"crossref","first-page":"13352","DOI":"10.3390\/ijms241713352","article-title":"Regulation of glycoprotein VI-dependent platelet activation and thrombus formation by heparan sulfate proteoglycan perlecan","volume":"24","author":"I Provenzale","year":"2023","journal-title":"Int J Mol Sci"},{"issue":"07","key":"ref33","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1007\/s00018-017-2694-7","article-title":"Human endoglin as a potential new partner involved in platelet-endothelium interactions","volume":"75","author":"E Rossi","year":"2018","journal-title":"Cell Mol Life Sci"},{"issue":"07","key":"ref34","doi-asserted-by":"crossref","first-page":"1943","DOI":"10.1016\/j.jtha.2023.03.023","article-title":"Soluble endoglin reduces thrombus formation and platelet aggregation via interaction with \u03b1IIb\u03b23 integrin","volume":"21","author":"E Rossi","year":"2023","journal-title":"J Thromb Haemost"},{"issue":"18","key":"ref35","doi-asserted-by":"crossref","first-page":"2265","DOI":"10.3390\/cells12182265","article-title":"Virtual screening of protein data bank via docking simulation identified the role of integrins in growth factor signaling, the allosteric activation of integrins, and P-selectin as a new integrin ligand","volume":"12","author":"Y Takada","year":"2023","journal-title":"Cells"},{"issue":"03","key":"ref36","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1160\/TH16-07-0515","article-title":"Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B","volume":"117","author":"S Loroch","year":"2017","journal-title":"Thromb Haemost"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3389\/fcvm.2020.00015","article-title":"Procoagulant phosphatidylserine-exposing platelets in vitro and in vivo","volume":"7","author":"E C Reddy","year":"2020","journal-title":"Front Cardiovasc Med"},{"issue":"06","key":"ref38","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1160\/TH13-08-0704","article-title":"Phosphatidylserine exposure, microparticle formation and mitochondrial depolarisation in Glanzmann thrombasthenia platelets","volume":"111","author":"H Wang","year":"2014","journal-title":"Thromb Haemost"},{"issue":"15","key":"ref39","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1161\/CIRCULATIONAHA.114.015036","article-title":"Coordinated membrane ballooning and procoagulant spreading in human platelets","volume":"132","author":"E O Agbani","year":"2015","journal-title":"Circulation"},{"issue":"11","key":"ref40","doi-asserted-by":"crossref","first-page":"2484","DOI":"10.1161\/ATVBAHA.107.151100","article-title":"Segregation of platelet aggregatory and procoagulant microdomains in thrombus formation: regulation by transient integrin activation","volume":"27","author":"I C Munnix","year":"2007","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"01","key":"ref41","doi-asserted-by":"crossref","first-page":"2770","DOI":"10.1038\/s41598-017-02933-4","article-title":"Membrane ballooning in aggregated platelets is synchronized and mediates a surge in microvesiculation","volume":"7","author":"E O Agbani","year":"2017","journal-title":"Sci Rep"},{"issue":"41","key":"ref42","doi-asserted-by":"crossref","first-page":"29621","DOI":"10.1074\/jbc.M113.474163","article-title":"Procoagulant platelets form an \u03b1-granule protein-covered \u201ccap\u201d on their surface that promotes their attachment to aggregates","volume":"288","author":"A A Abaeva","year":"2013","journal-title":"J Biol Chem"},{"issue":"03","key":"ref43","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.jtha.2022.09.004","article-title":"Fibrin-glycoprotein VI interaction increases platelet procoagulant activity and impacts clot structure","volume":"21","author":"J S Gauer","year":"2023","journal-title":"J Thromb Haemost"},{"issue":"04","key":"ref44","doi-asserted-by":"crossref","first-page":"427","DOI":"10.3324\/haematol.2015.131441","article-title":"Coated platelets function in platelet-dependent fibrin formation via integrin \u03b1IIb\u03b23 and transglutaminase factor XIII","volume":"101","author":"N J Mattheij","year":"2016","journal-title":"Haematologica"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.atherosclerosis.2020.07.015","article-title":"Complementary roles of platelet \u03b1IIb\u03b23 integrin, phosphatidylserine exposure and cytoskeletal rearrangement in the release of extracellular vesicles","volume":"310","author":"A CA Heinzmann","year":"2020","journal-title":"Atherosclerosis"},{"issue":"02","key":"ref46","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1111\/cge.13366","article-title":"Clinical and molecular insights into Glanzmann's thrombasthenia in China","volume":"94","author":"L Zhou","year":"2018","journal-title":"Clin Genet"},{"issue":"04","key":"ref47","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1080\/09537104.2021.1947481","article-title":"New \u03b1IIb\u03b23 variants in 28 Turkish Glanzmann patients; structural hypothesis for complex activation by residues variations in I-EGF domains","volume":"33","author":"M Y Koker","year":"2022","journal-title":"Platelets"},{"issue":"02","key":"ref48","doi-asserted-by":"crossref","first-page":"213","DOI":"10.3390\/cells12020213","article-title":"Glanzmann thrombasthenia in Pakistani patients: Identification of 7 novel pathogenic variants in the fibrinogen receptor \u03b1IIb\u03b23","volume":"12","author":"M YJ Siddiqi","year":"2023","journal-title":"Cells"},{"issue":"23","key":"ref49","doi-asserted-by":"crossref","first-page":"2791","DOI":"10.1182\/blood-2015-12-688267","article-title":"A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders","volume":"127","author":"I Simeoni","year":"2016","journal-title":"Blood"},{"issue":"23","key":"ref50","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1182\/blood.2018891192","article-title":"Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders","volume":"134","author":"K Downes","year":"2019","journal-title":"Blood"},{"issue":"12","key":"ref51","doi-asserted-by":"crossref","first-page":"3597","DOI":"10.1016\/j.jtha.2023.08.012","article-title":"SINE-VNTR-Alu\u2002retrotransposon\u2002insertion as a\u2002novel mutational event underlying Glanzmann thrombasthenia","volume":"21","author":"J Zhang","year":"2023","journal-title":"J Thromb Haemost"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1038\/s41525-019-0079-6","article-title":"Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients","volume":"4","author":"T Owaidah","year":"2019","journal-title":"NPJ Genom Med"},{"issue":"05","key":"ref53","doi-asserted-by":"crossref","first-page":"693","DOI":"10.3390\/genes12050693","article-title":"Genetic confirmation and identification of novel variants for Glanzmann thrombasthenia and other inherited platelet function disorders: a study by the Korean pediatric hematology Oncology group (KPHOG)","volume":"12","author":"E J Yang","year":"2021","journal-title":"Genes (Basel)"},{"issue":"10","key":"ref54","doi-asserted-by":"crossref","first-page":"2612","DOI":"10.1111\/jth.15459","article-title":"GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis","volume":"19","author":"K Megy","year":"2021","journal-title":"J Thromb Haemost"},{"issue":"02","key":"ref55","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1182\/bloodadvances.2020003712","article-title":"Specifications of the variant curation guidelines for ITGA2B\/ITGB3: ClinGen platelet disorder variant curation panel","volume":"5","author":"J E Ross","year":"2021","journal-title":"Blood Adv"},{"issue":"03","key":"ref57","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1055\/s-0033-1334466","article-title":"Genetic loci associated with platelet traits and platelet disorders","volume":"39","author":"N Bunimov","year":"2013","journal-title":"Semin Thromb Hemost"},{"issue":"01","key":"ref58","doi-asserted-by":"crossref","first-page":"3626","DOI":"10.1038\/s41467-021-23470-9","article-title":"Genome sequencing unveils a regulatory landscape of platelet reactivity","volume":"12","author":"A R Keramati","year":"2021","journal-title":"Nat Commun"},{"issue":"03","key":"ref59","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/s41588-022-01286-7","article-title":"Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism","volume":"55","author":"J Ghouse","year":"2023","journal-title":"Nat Genet"},{"issue":"24","key":"ref60","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1182\/blood.2023020118","article-title":"The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140\u2009214 UK Biobank participants","volume":"142","author":"L Stefanucci","year":"2023","journal-title":"Blood"},{"issue":"12","key":"ref61","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1111\/jth.14622","article-title":"A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia","volume":"17","author":"B Guillet","year":"2019","journal-title":"J Thromb Haemost"},{"issue":"08","key":"ref62","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.1093\/cvr\/cvad046","article-title":"Post-transcriptional control of haemostatic genes: mechanisms and emerging therapeutic concepts in thrombo-inflammatory disorders","volume":"119","author":"S Danckwardt","year":"2023","journal-title":"Cardiovasc Res"},{"issue":"08","key":"ref63","doi-asserted-by":"crossref","first-page":"7650","DOI":"10.3390\/ijms24087650","article-title":"The novel role of noncoding RNAs in modulating platelet function: implications in activation and aggregation","volume":"24","author":"G Cimmino","year":"2023","journal-title":"Int J Mol Sci"},{"issue":"09","key":"ref64","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1055\/a-1497-9649","article-title":"miR-204-5p and platelet function regulation: insight into a mechanism mediated by CDC42 and GPIIbIIIa","volume":"121","author":"A Garcia","year":"2021","journal-title":"Thromb Haemost"},{"issue":"11","key":"ref65","doi-asserted-by":"crossref","first-page":"3129","DOI":"10.1182\/blood-2011-02-331579","article-title":"S6K1 and mTOR regulate Rac1-driven platelet activation and aggregation","volume":"118","author":"J E Aslan","year":"2011","journal-title":"Blood"},{"issue":"08","key":"ref66","doi-asserted-by":"crossref","first-page":"2004","DOI":"10.3324\/haematol.2019.233197","article-title":"Inherited thrombocytopenias: history, advances and perspectives","volume":"105","author":"A T Nurden","year":"2020","journal-title":"Haematologica"},{"issue":"01","key":"ref67","doi-asserted-by":"crossref","first-page":"46","DOI":"10.3324\/haematol.2015.130849","article-title":"Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia","volume":"101","author":"L Bury","year":"2016","journal-title":"Haematologica"},{"issue":"19","key":"ref68","doi-asserted-by":"crossref","first-page":"4747","DOI":"10.1182\/blood-2008-10-186551","article-title":"Interactions of platelet integrin alphaIIb and \u03b23 transmembrane domains in mammalian cell membranes and their role in integrin activation","volume":"113","author":"C Kim","year":"2009","journal-title":"Blood"},{"issue":"02","key":"ref69","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/mgg3.9","article-title":"Demonstration of novel gain-of-function mutations of \u03b1IIb\u03b23: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype","volume":"1","author":"H Kashiwagi","year":"2013","journal-title":"Mol Genet Genomic Med"},{"issue":"02","key":"ref70","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1111\/jth.14678","article-title":"Knock-in mice bearing constitutively active \u03b1IIb(R990W) mutation develop macrothrombocytopenia with severe platelet dysfunction","volume":"18","author":"K Akuta","year":"2020","journal-title":"J Thromb Haemost"},{"issue":"02","key":"ref71","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/ajh.24958","article-title":"Mutations of the integrin \u03b1IIb\/\u03b23 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet \u03b1-granules","volume":"93","author":"M Favier","year":"2018","journal-title":"Am J Hematol"},{"issue":"12","key":"ref72","doi-asserted-by":"crossref","first-page":"e0235136","DOI":"10.1371\/journal.pone.0235136","article-title":"\u03b1IIb\u03b23 variants in ten families with autosomal dominant macrothrombocytopenia: expanding the mutational and clinical spectrum","volume":"15","author":"S Morais","year":"2020","journal-title":"PLoS One"},{"issue":"08","key":"ref73","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1182\/bloodadvances.2016002808","article-title":"An intracytoplasmic \u03b23 Leu718 deletion in a patient with a novel platelet phenotype","volume":"1","author":"P Nurden","year":"2017","journal-title":"Blood Adv"},{"issue":"04","key":"ref74","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1007\/s00277-017-3214-4","article-title":"A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin \u03b1IIb\u03b23 in autosomal dominant macrothrombocytopenia with aggregation dysfunction","volume":"97","author":"N Miyashita","year":"2018","journal-title":"Ann Hematol"},{"key":"ref75","doi-asserted-by":"crossref","first-page":"4497","DOI":"10.1016\/j.csbj.2023.09.022","article-title":"Family-wide analysis of integrin structures predicted by AlphaFold2","volume":"21","author":"H Zhang","year":"2023","journal-title":"Comput Struct Biotechnol J"},{"issue":"08","key":"ref76","first-page":"1031","article-title":"The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia","volume":"100","author":"G Di Minno","year":"2015","journal-title":"Haematologica"},{"issue":"08","key":"ref77","first-page":"1038","article-title":"The international, prospective Glanzmann Thrombasthenia Registry: treatment and outcomes in surgical intervention","volume":"100","author":"MC Poon","year":"2015","journal-title":"Haematologica"},{"issue":"07","key":"ref78","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.3324\/haematol.2016.160754","article-title":"Bleeding risk of surgery and its prevention in patients with inherited platelet disorders","volume":"102","author":"S Orsini","year":"2017","journal-title":"Haematologica"},{"issue":"03","key":"ref79","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1111\/bjh.14623","article-title":"Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions","volume":"181","author":"S Al-Battat","year":"2018","journal-title":"Br J Haematol"},{"issue":"522","key":"ref80","doi-asserted-by":"crossref","first-page":"aay0203","DOI":"10.1126\/scitranslmed.aay0203","article-title":"Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications","volume":"11","author":"R H Lee","year":"2019","journal-title":"Sci Transl Med"},{"issue":"02","key":"ref81","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/bjh.15087","article-title":"Anti-\u03b1IIb\u03b23 immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations","volume":"181","author":"M Fiore","year":"2018","journal-title":"Br J Haematol"},{"issue":"10","key":"ref82","doi-asserted-by":"crossref","first-page":"2855","DOI":"10.3324\/haematol.2022.281973","article-title":"The Glanzmann Thrombasthenia Registry: safety of platelet therapy in patients with Glanzmann thrombasthenia and changes in alloimmunization status","volume":"108","author":"M-C Poon","year":"2023","journal-title":"Haematologica"},{"issue":"02","key":"ref83","first-page":"262","article-title":"Immunisation against \u03b1IIb\u03b23 and \u03b1v\u03b23 in a type 1 variant of Glanzmann's thrombasthenia caused by a missense mutation Gly540Asp on \u03b23","volume":"116","author":"H Wihadmadyatami","year":"2016","journal-title":"Thromb Haemost"},{"issue":"08","key":"ref84","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1161\/ATVBAHA.116.307281","article-title":"Antiendothelial alphavbeta3 antibodies are a major cause of intracranial bleeding in fetal\/neonatal alloimmune thrombocytopenia","volume":"36","author":"S Santoso","year":"2016","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"17","key":"ref85","doi-asserted-by":"crossref","first-page":"2632","DOI":"10.1182\/blood.2021011595","article-title":"How I manage pregnancy in women with Glanzmann thrombasthenia","volume":"139","author":"M Fiore","year":"2022","journal-title":"Blood"},{"issue":"03","key":"ref86","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1055\/s-0040-1718373","article-title":"The use of recombinant activated Factor VII in patients with Glanzmann's thrombasthenia","volume":"121","author":"M-C Poon","year":"2021","journal-title":"Thromb Haemost"},{"issue":"04","key":"ref87","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1111\/hae.12473","article-title":"Use of recombinant activated factor VII in patients with Glanzmann's thrombasthenia: a review of the literature","volume":"20","author":"M Rajpurkar","year":"2014","journal-title":"Haemophilia"},{"key":"ref88","doi-asserted-by":"crossref","first-page":"95","DOI":"10.2147\/IJGM.S128953","article-title":"Recognition and management of platelet-refractory bleeding in patients with Glanzmann's thrombasthenia and other severe platelet function disorders","volume":"10","author":"M Chitlur","year":"2017","journal-title":"Int J Gen Med"},{"issue":"04","key":"ref89","doi-asserted-by":"crossref","first-page":"100183","DOI":"10.1016\/j.rpth.2023.100183","article-title":"Apixaban for treatment of venous thromboembolism in an obese patient with Glanzmann thrombasthenia","volume":"7","author":"L Sattler","year":"2023","journal-title":"Res Pract Thromb Haemost"},{"key":"ref90","doi-asserted-by":"crossref","first-page":"e53353","DOI":"10.7554\/eLife.53353","article-title":"Activated \u03b1IIb\u03b23 on platelets mediates flow-dependent NETosis via SLC44A2","volume":"9","author":"A Constantinescu-Bercu","year":"2020","journal-title":"eLife"},{"issue":"07","key":"ref91","first-page":"e254","article-title":"Antithrombin, protein C, and protein S: genome and transcriptome-wide association studies identify 7 novel loci regulating plasma levels","volume":"43","author":"Y Ji","year":"2023","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"06","key":"ref92","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1038\/nrmicro3269","article-title":"Platelets: at the nexus of antimicrobial defence","volume":"12","author":"M R Yeaman","year":"2014","journal-title":"Nat Rev Microbiol"},{"issue":"04","key":"ref93","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.tmrv.2020.09.005","article-title":"The immune nature of platelets revisited","volume":"34","author":"A Maouia","year":"2020","journal-title":"Transfus Med Rev"},{"issue":"10","key":"ref94","doi-asserted-by":"crossref","first-page":"e28662","DOI":"10.1002\/pbc.28662","article-title":"COVID-19 in a pediatric patient with Glanzmann thrombasthenia","volume":"67","author":"L Sattler","year":"2020","journal-title":"Pediatr Blood Cancer"},{"key":"ref95","doi-asserted-by":"crossref","first-page":"100434","DOI":"10.1016\/j.eclinm.2020.100434","article-title":"Megakaryocytes and platelet-fibrin thrombi characterize multi-organ thrombosis at autopsy in COVID-19: a case series","volume":"24","author":"A V Rapkiewicz","year":"2020","journal-title":"EClinicalMedicine"},{"issue":"06","key":"ref96","doi-asserted-by":"crossref","first-page":"1368","DOI":"10.1016\/j.cell.2017.11.001","article-title":"Migrating platelets are mechano-scavengers that collect and bundle bacteria","volume":"171","author":"F Gaertner","year":"2017","journal-title":"Cell"},{"issue":"07","key":"ref97","doi-asserted-by":"crossref","first-page":"3868","DOI":"10.3390\/ijms23073868","article-title":"Beyond hemostasis: Platelet Innate immune interactions and thromboinflammation","volume":"23","author":"J Mandel","year":"2022","journal-title":"Int J Mol Sci"},{"issue":"02","key":"ref98","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1182\/blood.2021014914","article-title":"Procoagulant platelet sentinels prevent inflammatory bleeding through GPIIBIIIA and GPVI","volume":"140","author":"R Kaiser","year":"2022","journal-title":"Blood"},{"issue":"17","key":"ref99","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1182\/blood.2023020535","article-title":"Hemostasis without clot formation: how platelets guard the vasculature in inflammation, infection, and malignancy","volume":"142","author":"R Kaiser","year":"2023","journal-title":"Blood"},{"key":"ref100","doi-asserted-by":"crossref","first-page":"1078005","DOI":"10.3389\/fimmu.2023.1078005","article-title":"Vitronectin promotes immunothrombotic dysregulation in the venular microvasculature","volume":"14","author":"B Uhl","year":"2023","journal-title":"Front Immunol"},{"issue":"06","key":"ref101","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1111\/tme.12911","article-title":"Efficacy of octreotide in the treatment of gastrointestinal angiodysplasia in a patient with Glanzmann thrombasthenia","volume":"32","author":"D Desprez","year":"2022","journal-title":"Transfus Med"},{"issue":"02","key":"ref102","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1080\/09537104.2020.1745169","article-title":"Long-term treatment with thalidomide for severe recurrent hemorrhage from intestinal angiodysplasia in Glanzmann Thrombasthenia","volume":"32","author":"F Paciullo","year":"2021","journal-title":"Platelets"},{"issue":"08","key":"ref103","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1097\/MBC.0000000000001249","article-title":"Glanzmann's thrombasthenia associated with gastrointestinal angiodysplasias successfully treated with bevacizumab","volume":"34","author":"A Saladino","year":"2023","journal-title":"Blood Coagul Fibrinolysis"},{"issue":"10","key":"ref104","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1182\/blood-2015-07-607937","article-title":"Megakaryocyte- and megakaryocyte precursor-related gene therapies","volume":"127","author":"D A Wilcox","year":"2016","journal-title":"Blood"},{"issue":"06","key":"ref105","doi-asserted-by":"crossref","first-page":"449","DOI":"10.3892\/mmr.2021.12088","article-title":"Itgb3-integrin-deficient mice may not be a sufficient model for patients with Glanzmann thrombasthenia","volume":"23","author":"D Li","year":"2021","journal-title":"Mol Med Rep"},{"issue":"23","key":"ref106","doi-asserted-by":"crossref","first-page":"9583","DOI":"10.1073\/pnas.1016394108","article-title":"Platelet gene therapy improves hemostatic function for integrin alphaIIbbeta3-deficient dogs","volume":"108","author":"J Fang","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"05","key":"ref107","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1182\/blood-2013-10-530725","article-title":"High-level transgene expression in induced pluripotent stem cell-derived megakaryocytes: correction of Glanzmann thrombasthenia","volume":"123","author":"S K Sullivan","year":"2014","journal-title":"Blood"},{"key":"ref108","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.scr.2017.02.003","article-title":"Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression","volume":"20","author":"L Hu","year":"2017","journal-title":"Stem Cell Res (Amst)"},{"issue":"06","key":"ref109","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1182\/blood-2015-10-675751","article-title":"CRISPR\/Cas9-mediated conversion of human platelet alloantigen allotypes","volume":"127","author":"N Zhang","year":"2016","journal-title":"Blood"},{"issue":"01","key":"ref110","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1186\/s13023-023-02787-2","article-title":"Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders","volume":"18","author":"M Fiore","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1080\/17474086.2023.2175661","article-title":"Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders","volume":"16","author":"D Nugent","year":"2023","journal-title":"Expert Rev Hematol"},{"issue":"01","key":"ref112","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4103\/joah.joah_68_18","article-title":"Management of Glanzmann's thrombasthenia \u2013 Guidelines based on an expert panel consensus from gulf cooperatic council countries","volume":"10","author":"A Tarawah","year":"2019","journal-title":"J Appl Haematol"},{"key":"ref113","first-page":"289","article-title":"Disease burden in patients with Glanzmann's thrombasthenia: Perspectives from the Glanzmann's thrombasthenia patient\/caregiver questionnaire","volume":"11","author":"A Duncan","year":"2020","journal-title":"J Blood Med"},{"key":"ref114","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1038\/s44161-023-00418-4","article-title":"A bispecific antibody approach for the potential prophylactic treatment of inherited bleeding disorders","volume":"3","author":"P S Gandhi","year":"2024","journal-title":"Nat Cardiovasc Res"},{"key":"ref116","doi-asserted-by":"crossref","first-page":"103638","DOI":"10.1016\/j.jprot.2020.103638","article-title":"Defining the TLT-1 interactome from resting and activated human platelets","volume":"215","author":"A M Schmoker","year":"2020","journal-title":"J Proteomics"},{"issue":"01","key":"ref117","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ajh.24917","article-title":"Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders","volume":"93","author":"E J Romasko","year":"2018","journal-title":"Am J Hematol"}],"container-title":["Seminars in Thrombosis and Hemostasis"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0044-1782519.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T23:43:39Z","timestamp":1740008619000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0044-1782519"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,18]]},"references-count":115,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2025,2,19]]},"published-print":{"date-parts":[[2025,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0044-1782519","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0094-6176","1098-9064"],"issn-type":[{"value":"0094-6176","type":"print"},{"value":"1098-9064","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,18]]}}}