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Research Article

The molecular genetics of Glanzmann's thrombasthenia

Pages 5-20 | Published online: 07 Jul 2009

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (4)

Natalie Mathews, Georges-Etienne Rivard & Arnaud Bonnefoy. (2021) Glanzmann Thrombasthenia: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment Strategies. Journal of Blood Medicine 12, pages 449-463.
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Luís Bernardo Pina-Cabral, Miguel Carneiro, Begoña Criado & Pedro José Esteves. (2019) Maximum likelihood approach suggests positive selection in platelet integrin αIIbβ3 in mammalian species. Platelets 30:4, pages 460-466.
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A. Farsinejad, H. Abolghasemi, A. Kazemi, M. Aghaiipour, E. Hadjati, M. Faranoush, M. Jazebi & F. Ala. (2011) Classification of Iranian patients with Glanzmann's Thrombasthenia using a flow cytometric method. Platelets 22:5, pages 321-327.
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Loida Corbillon Garcia, Christelle Breillat, Margarida Lima, Robert Combrié, Sara Morais, Maria dos Anjos Teixera, Manuel Campos, Benvindo Justica & Alan T. Nurden. (2004) Mutations in the β3 gene giving rise to type I Glanzmann thrombasthenia in two families in Portugal. Platelets 15:1, pages 15-22.
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Articles from other publishers (49)

Hüseyin TOKGÖZ, Ümran ÇALIŞKAN, Tuğçe DURAN & Kaniye Zeynep ÇALIŞKAN SAK. (2023) A case report of Glanzman Thrombasthenia with anterior mediastinal hematoma and Factor V Leiden mutationÖn mediastende hematomu olan ve Faktör V Leiden mutasyonu bulunan Glanzman Trombastenili bir olgu sunumu. KTO Karatay Üniversitesi Sağlık Bilimleri Dergisi 4:1, pages 17-22.
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Maryam Khan, Raheel Iftikhar, Tariq Ghafoor, Fayyaz Hussain, Qamar un Nisa Chaudhry, Syed Kamran Mahmood, Nighat Shahbaz, Mehreen Ali Khan, Tariq Azam Khattak, Ghassan Umair Shamshad, Jahanzeb Rehman, Sundas Ali, Zunaira Shah, Abdul Rafae, Muhammad Farhan, Faiz Anwer & Parvez Ahmed. (2020) Allogeneic hematopoietic stem cell transplant in rare hematologic disorders: a single center experience from Pakistan. Bone Marrow Transplantation 56:4, pages 863-872.
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Gisha Mohan, Srikrishna V Malayala, Parth Mehta & Mamtha Balla. (2020) A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies. Cureus.
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Walter P. Jeske & Phillip J. DeChristopher. 2020. Rodak's Hematology. Rodak's Hematology 675 694 .
Kenneth J. Clemetson. 2019. Molecular Hematology 4e. Molecular Hematology 4e 251 266 .
A. Eghbali, L. Melikof, H. Taherahmadi & B. Bagheri. (2016) Efficacy of tranexamic acid for the prevention of bleeding in patients with von Willebrand disease and Glanzmann thrombasthenia: a controlled, before and after trial. Haemophilia 22:5, pages e423-e426.
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Man-Chiu Poon, Giovanni Di Minno, Roseline d’Oiron & Rainer Zotz. (2016) New Insights Into the Treatment of Glanzmann Thrombasthenia. Transfusion Medicine Reviews 30:2, pages 92-99.
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Andrew D. Mumford & Amanda Clark. 2015. Disorders of Thrombosis and Hemostasis in Pregnancy. Disorders of Thrombosis and Hemostasis in Pregnancy 223 236 .
Alireza Farsinejad, Mohammad M. Farajollahi, Ahmad Kazemi, Nazanin Saemi & Mohammad Faranoush. (2013) Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran. Blood Coagulation & Fibrinolysis 24:6, pages 613-618.
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Ahmad Y. Sheikh, Charles C. Hill, Lawrence T. Goodnough, Lawrence L. Leung & Michael P. Fischbein. (2013) Open aortic valve replacement in a patient with Glanzmann's thrombasthenia: a multidisciplinary strategy to minimize perioperative bleeding. Transfusion, pages n/a-n/a.
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V. Wiegering, K. Sauer, B. Winkler, M. Eyrich & P. G. Schlegel. (2017) Indication for allogeneic stem cell transplantation in Glanzmann’s thrombasthenia. Hämostaseologie 33:04, pages 305-312.
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Vivian Lobo, Shrimati Shetty, Bipin Kulkarni & Kanjaksha Ghosh. (2011) A novel ELISA for diagnosis of Glanzmann’s thrombasthenia and the heterozygote carriers. Annals of Hematology 91:6, pages 917-921.
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Andrew D. Mumford & Amanda Clark. 2012. Disorders of Thrombosis and Hemostasis in Pregnancy. Disorders of Thrombosis and Hemostasis in Pregnancy 143 156 .
S. SIDDIQ, A. CLARK & A. MUMFORD. (2011) A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia. Haemophilia, pages no-no.
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R. Raul Rosas, Margaret Heisel Kurth & James Sidman. (2010) Treatment and outcomes for epistaxis in children with Glanzmann's thrombasthenia. The Laryngoscope 120:12, pages 2374-2377.
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S. J. ISRAELS, M. EL‐EKIABY, T. QUIROGA & D. MEZZANO. (2010) Inherited disorders of platelet function and challenges to diagnosis of mucocutaneous bleeding. Haemophilia 16:s5, pages 152-159.
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Kenneth J Clemetson. 2010. Molecular Hematology. Molecular Hematology 246 258 .
Weston Miller, Amy Dunn & Kuang-Yueh Chiang. (2009) Sustained Engraftment and Resolution of Bleeding Phenotype After Unrelated Cord Blood Hematopoietic Stem Cell Transplantation for Severe Glanzmann Thrombasthenia. Journal of Pediatric Hematology/Oncology 31:6, pages 437-439.
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Meganathan Kannan, Birendra Kumar Yadav, Firdos Ahmad, Arijit Biswas & Renu Saxena. (2009) Modulation of clinical phenotype of Glanzmann's thrombasthenia by thrombogenic mutations. Clinica Chimica Acta 403:1-2, pages 156-158.
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Meganathan Kannan & Renu Saxena. (2008) Glanzmann's Thrombasthenia: An Overview. Clinical and Applied Thrombosis/Hemostasis 15:2, pages 152-165.
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D. SIMON, T. KUNICKI & D. NUGENT. (2008) Platelet function defects. Haemophilia 14:6, pages 1240-1249.
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Vineet Gupta, José Luis Alonso, Takashi Sugimori, Makram Issafi, Jiang-Ping Xiong & M. Amin Arnaout. (2008) Role of the β-Subunit Arginine/Lysine Finger in Integrin Heterodimer Formation and Function. The Journal of Immunology 180:3, pages 1713-1718.
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Alan T. Nurden & Paquita Nurden. 2007. Platelets. Platelets 1029 1050 .
Alan T Nurden. (2006) Glanzmann thrombasthenia. Orphanet Journal of Rare Diseases 1:1.
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S. Tanaka, T. Hayashi, K. Yoshimura, M. Nakayama, T. Fujita, T. Amano & Y. Tani. (2005) Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin β3gene as a cause of the absence of platelet αIIbβ3in Glanzmann's thrombasthenia. Journal of Thrombosis and Haemostasis 3:1, pages 68-73.
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Vassilios Tsikaris. (2004) The anti‐platelet approach targeting the fibrinogen ligand of the GPIIb/IIIa receptor. Journal of Peptide Science 10:10, pages 589-602.
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Deborah L. French, Steven Fruchtman, W. Beau Mitchell, Barry S. Coller & Hava Peretz. (2004) Evidence for megakaryocyte engraftment following reduced-intensity conditioning. Experimental Hematology 32:9, pages 877-880.
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A.T. Nurden, C. Breillat, B. Jacquelin, R. Combrié, J. Freedman, V.S. Blanchette, M. Schmugge & M.L. Rand. (2004) Triple heterozygosity in the integrin αIIbsubunit in a patient with Glanzmann's thrombasthenia. Journal of Thrombosis and Haemostasis 2:5, pages 813-819.
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S. Tanaka, T. Hayashi, C. Terada, Y. Hori, K.S. Han, H.S. Ahn, F. Bourre & Y. Tani. (2003) Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the β3 gene. Journal of Thrombosis and Haemostasis 1:11, pages 2427-2433.
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C. González-Manchón, E.G. Arias-Salgado, N. Butta, G. Martín, R.B. Rodríguez, I. Elalamy, R. Parrilla & R. Favier. (2003) A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia. Journal of Thrombosis and Haemostasis 1:5, pages 1071-1078.
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W. Beau MitchellJi Hong LiFiza SinghAlan D. MichelsonJames BusselBarry S. CollerDeborah L. French. (2003) Two novel mutations in the αIIb calcium-binding domains identify hydrophobic regions essential for αIIbβ3 biogenesis. Blood 101:6, pages 2268-2276.
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Paquita Nurden, Christel Poujol, Joelle Winckler, Robert Combrié, Jacques P. Caen & Alan T. Nurden. (2002) A Ser 752 →Pro substitution in the cytoplasmic domain of β3 in a Glanzmann thrombasthenia variant fails to prevent interactions between the αIIbβ3 integrin and the platelet granule pool of fibrinogen . British Journal of Haematology 118:4, pages 1143-1151.
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S Bellucci & J Caen. (2002) Molecular basis of Glanzmann's Thrombasthenia and current strategies in treatment. Blood Reviews 16:3, pages 193-202.
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M. Amin Arnaout. (2003) Integrin structure: new twists and turns in dynamic cell adhesion. Immunological Reviews 186:1, pages 125-140.
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Guang Fen MaoVijender R. VaidyulaSatya P. KunapuliA. Koneti Rao. (2002) Lineage-specific defect in gene expression in human platelet phospholipase C-β2 deficiency. Blood 99:3, pages 905-911.
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Alan T. Nurden & Paquita Nurden. (2002) I NHERITED D EFECTS OF P LATELET F UNCTION . Reviews in Clinical and Experimental Hematology 5:4, pages 314-334.
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M. K. Boudreaux & D. L. Lipscomb. (2016) Clinical, Biochemical, and Molecular Aspects of Glanzmann's Thrombasthenia in Humans and Dogs. Veterinary Pathology 38:3, pages 249-260.
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Elena G. Arias-SalgadoNora ButtaConsuelo González-ManchónSusana LarruceaMatilde S. AyusoRoberto Parrilla. (2001) Competition between normal [674C] and mutant [674R]GPIIb subunits: role of the molecular chaperone BiP in the processing of GPIIb-IIIa complexes. Blood 97:9, pages 2640-2647.
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Alan T. Nurden, Paquita Nurden & James N. George. 2001. Hemophilia Care in the New Millennium. Hemophilia Care in the New Millennium 13 29 .
Robert Kaplan, Jagadeesh Gabbeta, Ling Sun, Guang Fen Mao & A. Koneti Rao. (2008) Combined defect in membrane expression and activation of platelet GPIIb–IIIa complex without primary sequence abnormalities in myeloproliferative disease. British Journal of Haematology 111:3, pages 954-964.
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Jianming Tao, Elena G. Arias‐Salgado, Consuelo González‐Manchón, Gemma Iruín, Nora Butta, Matilde S. Ayuso & Roberto Parrilla. (2008) A 1063G→A mutation in exon 12 of glycoprotein (GP)IIb associated with a thrombasthenic phenotype: mutation analysis of [324E]GPIIb. British Journal of Haematology 111:3, pages 965-973.
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Jianming Tao, Elena G. Arias-Salgado, Consuelo Gonzalez-Manchon, Gemma Iruin, Nora Butta, Matilde S. Ayuso & Roberto Parrilla. (2000) A 1063GA mutation in exon 12 of glycoprotein (GP)IIb associated with a thrombasthenic phenotype: mutation analysis of [324E]GPIIb. British Journal of Haematology 111:3, pages 965-973.
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Jianming Tao, Elena García Arias‐Salgado, Consuelo González‐Manchón, Juan Díaz‐Cremades, Matilde S. Ayuso & Roberto Parrilla. (2008) A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia. British Journal of Haematology 111:1, pages 96-103.
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Deborah L. FrenchUri Seligsohn. (2000) Platelet Glycoprotein IIb/IIIa Receptors and Glanzmann’s Thrombasthenia. Arteriosclerosis, Thrombosis, and Vascular Biology 20:3, pages 607-610.
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Ramesh B. BasaniDeborah L. FrenchGaston VilaireDeborah L. BrownFangping ChenBarry S. CollerJerry M. DerrickT. Kent GartnerJoel S. BennettMortimer Poncz. (2000) A naturally occurring mutation near the amino terminus of αIIb defines a new region involved in ligand binding to αIIbβ3. Blood 95:1, pages 180-188.
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Jian Ruan, Markus Schmugge, Kenneth J. Clemetson, Eric Cazes, Robert Combrie, François Bourre & Alan T. Nurden. (2005) Homozygous Cys 542 →Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia . British Journal of Haematology 105:2, pages 523-531.
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Jian Ruan, Markus Schmugge, Kenneth J. Clemetson, Eric Cazes, Robert Combrie, Francois Bourre & Alan T. Nurden. (1999) Homozygous Cys542Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. British Journal of Haematology 105:2, pages 523-531.
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Deborah French. 1999. Handbook of Platelet Physiology and Pharmacology. Handbook of Platelet Physiology and Pharmacology 394 423 .
Jian Ruan, Olivier Peyruchaud, Lorenzo Alberio, GÉraldine Valles, Kenneth Clemetson, FranÇois Bourre & Alan T. Nurden. (2001) Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. British Journal of Haematology 102:4, pages 918-925.
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