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Gene of the Issue

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia

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Pages 98-101 | Received 03 Jul 2017, Accepted 11 Aug 2017, Published online: 10 Nov 2017

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Alex Bourguignon, Subia Tasneem & Catherine P. Hayward. (2022) Screening and diagnosis of inherited platelet disorders. Critical Reviews in Clinical Laboratory Sciences 59:6, pages 405-444.
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Matthew M. Hernandez, Ayisha Buckley, Ariana Mills, Rachel Meislin, Caroline Cromwell, Angela Bianco, Noel Strong & Suzanne Arinsburg. (2023) Multidisciplinary management of a pregnancy complicated by Glanzmann thrombasthenia: A case report. Transfusion 63:12, pages 2384-2391.
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Ana Zamora-Cánovas, Belén de la Morena-Barrio, Ana Marín-Quilez, Cristina Sierra-Aisa, Christoph Male, Nuria Fernández-Mosteirin, María Trapero-Marugán, José Padilla, Pedro Garrido-Rodriguez, Ana Sánchez-Fuentes, Agustín Rodríguez-Alen, Pedro Luis Gómez-González, Nuria Revilla, María Eugenia de la Morena-Barrio, José María Bastida, Javier Corral, José Rivera & María L. Lozano. (2023) Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders. Journal of Thrombosis and Haemostasis.
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Dayan Wang, Panjian Lai, Qiaochun Lu, Mohammed A. El-Magd & Xiaobing Li. (2023) Effect of c.1431C>T mutation, a causative mutation of Glanzmann's thrombasthenia, on ITGB3 splicing, gene and protein expression. Gene, pages 147805.
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Junjun Shu, Shixin Lin, Yu Wu, Jun Zhu, Xia Zou, Hong Zhu & Jun Gao. (2023) The Mechanism of ITGB3 and PPIF Plasmid Construction on the Offspring of Rats with Intrauterine Adhesion and Bioinformatics Analysis. Science of Advanced Materials 15:7, pages 979-992.
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Yannick Waxmann, Miriam Arians, Gregor Bein, Ulrich J. Sachs & Behnaz Bayat. (2022) A Trp11Arg Substitution in the β3 Signal Peptide Prevents Expression of αIIbβ3 in Patients with Glanzmann Thrombasthenia. Thrombosis and Haemostasis 122:11, pages 1951-1953.
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Serge Mbiandjeu, Alessandra Balduini & Alessandro Malara. (2021) Megakaryocyte Cytoskeletal Proteins in Platelet Biogenesis and Diseases. Thrombosis and Haemostasis 122:05, pages 666-678.
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Jian hua Li, Shu wen Sun, Yuan Ai, Xue Yang & Yi ping Zhu. (2022) Excellent Outcome Following Sibling Peripheral Blood Hematopoietic Stem Cell Transplantation for Glanzmann Thrombasthenia: A Case Report. Frontiers in Pediatrics 9.
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Raúl Alberto Jiménez Castillo, Daniel Eduardo Benavides-Salgado, Joel Omar Jáquez-Quintana, José Alberto González González, Carlos Alejandro Cortez Hernández, Homero Náñez-Terreros & Héctor Jesús Maldonado-Garza. (2022) Glanzmann Thrombasthenia: an uncommon cause of acute upper gastrointestinal bleeding. Revista Española de Enfermedades Digestivas.
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Verónica Palma-Barqueros, Nuria Revilla, Ana Sánchez, Ana Zamora Cánovas, Agustín Rodriguez-Alén, Ana Marín-Quílez, José Ramón González-Porras, Vicente Vicente, María Luisa Lozano, José María Bastida & José Rivera. (2021) Inherited Platelet Disorders: An Updated Overview. International Journal of Molecular Sciences 22:9, pages 4521.
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Paquita Nurden, Simon Stritt, Remi Favier & Alan T. Nurden. (2020) Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. Haematologica 106:2, pages 337-350.
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Marc Fouassier, Antoine Babuty, Camille Debord & Marie C. Béné. (2020) Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints. Cytometry Part B: Clinical Cytometry 98:6, pages 464-475.
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Bing XiaoJianhua MaoBoyang SunWei ZhangYun WangPengran WangZheng RuanWenda XiHuiyuan LiJingyi ZhouYide LuQiulan DingXuefeng WangJingqiu LiuJinsong YanCheng LuoXiaofeng ShiRenchi YangXiaodong Xi. (2020) Integrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion. Arteriosclerosis, Thrombosis, and Vascular Biology 40:5, pages 1296-1310.
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Carlo Zaninetti & Andreas Greinacher. (2020) Diagnosis of Inherited Platelet Disorders on a Blood Smear. Journal of Clinical Medicine 9:2, pages 539.
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Georgi Manukjan, Verena A. Wiegering, Tobias Reindl, Gabriele Strauß, Eva Klopocki, Harald Schulze & Oliver Andres. (2019) Novel variants in FERMT3 and RASGRP2 —Genetic linkage in Glanzmann‐like bleeding disorders . Pediatric Blood & Cancer 67:2.
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Robert H. Lee, Raymond PiattAnkita Dhenge, María L. Lozano, Verónica Palma-Barqueros, José Rivera & Wolfgang Bergmeier. (2019) Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications. Science Translational Medicine 11:522.
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Benoit Guillet, Sophie Bayart, Xavier Pillois, Paquita Nurden, Jacques P. Caen & Alan T. Nurden. (2019) A Glanzmann thrombasthenia family associated with a TUBB1‐related macrothrombocytopenia. Journal of Thrombosis and Haemostasis 17:12, pages 2211-2215.
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John D. Grainger, Jecko Thachil & Andrew M. Will. (2018) How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. British Journal of Haematology 182:5, pages 621-632.
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Arnaud Dupuis & Christian Gachet. (2018) Inherited platelet disorders : Management of the bleeding risk. Transfusion Clinique et Biologique 25:3, pages 228-235.
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