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Gene of the Issue

NBEAL2 mutations and bleeding in patients with gray platelet syndrome

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Pages 632-635 | Received 16 Apr 2018, Accepted 09 May 2018, Published online: 05 Jun 2018

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Ana C Glembotsky, Geraldine De Luca & Paula G Heller. (2021) A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation. Journal of Blood Medicine 12, pages 719-732.
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Rémi Favier, Xavier Roussel, Sylvain Audia, Jean Claude Bordet, Emmanuel De Maistre, Pierre Hirsch, Anne Neuhart, Isabelle Bedgedjian, Vasiliki Gkalea, Marie Favier, Etienne Daguindau, Paquita Nurden & Eric Deconinck. (2020) Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation. Platelets 31:4, pages 536-540.
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Articles from other publishers (23)

Deborah L. Ornstein. 2024. Diagnostic Molecular Pathology. Diagnostic Molecular Pathology 643 653 .
Laure Delage, Francesco Carbone, Quentin Riller, Jean-Luc Zachayus, Erwan Kerbellec, Armelle Buzy, Marie-Claude Stolzenberg, Marine Luka, Camille de Cevins, Georges Kalouche, Rémi Favier, Alizée Michel, Sonia Meynier, Aurélien Corneau, Caroline Evrard, Nathalie Neveux, Sébastien Roudières, Brieuc P. Pérot, Mathieu Fusaro, Christelle Lenoir, Olivier Pellé, Mélanie Parisot, Marc Bras, Sébastien Héritier, Guy Leverger, Anne-Sophie Korganow, Capucine Picard, Sylvain Latour, Bénédicte Collet, Alain Fischer, Bénédicte Neven, Aude Magérus, Mickaël Ménager, Benoit Pasquier & Frédéric Rieux-Laucat. (2023) NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells. Nature Communications 14:1.
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Janine H. Collins, Louisa Mayer & Jose Antonio Guerrero Lopez. (2023) Immune dysregulation, autoimmunity, and granule defects in gray platelet syndrome. Journal of Thrombosis and Haemostasis 21:6, pages 1409-1419.
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Duha I. Barghouthi, Lila H. Abu-Hilal, Yumna Njoum, Abeer Dar Hasan, Khaled Alshawwa & Fadi Hourani. (2023) Gray Platelet Syndrome—Unusual Presentation with Spontaneous Splenic Rupture: A Case Report and Literature Review. Journal of Investigative Medicine High Impact Case Reports 11.
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Giuseppe Lassandro, Valentina Palladino, Michela Faleschini, Angelica Barone, Gianluca Boscarol, Simone Cesaro, Elena Chiocca, Piero Farruggia, Fiorina Giona, Chiara Gorio, Angela Maggio, Maddalena Marinoni, Antonio Marzollo, Giuseppe Palumbo, Giovanna Russo, Paola Saracco, Marco Spinelli, Federico Verzegnassi, Francesca Morga, Anna Savoia & Paola Giordano. (2022) “CHildren with Inherited Platelet disorders Surveillance” (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP). Frontiers in Pediatrics 10.
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Jan Louzil, Jana Stikarova, Dana Provaznikova, Ingrid Hrachovinova, Tereza Fenclova, Jan Musil, Martin Radek, Jirina Kaufmanova, Vera Geierova, Eliska Ceznerova, Peter Salaj & Roman Kotlin. (2022) Diagnosing Czech Patients with Inherited Platelet Disorders. International Journal of Molecular Sciences 23:22, pages 14386.
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Irene Roberts & Barbara J. Bain. 2022. Neonatal Haematology. Neonatal Haematology 190 253 .
Archana Mevalegire Venkatagiri, Kalasekhar Vijayasekharan, K. Vasudeva Bhat, Sindhura Lakshmi Koulmane Laxminarayana, Sushma Belurkar & Vishwapriya Mahadev Godkhindi. (2022) Gray Platelet Syndrome with Severe Thrombocytopenia: A Novel NBEAL2 Gene Variant from India. Indian Journal of Hematology and Blood Transfusion 38:4, pages 754-756.
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Hamza Tariq, Juliana Perez Botero, Russell A Higgins & Edward A Medina. (2021) Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis. American Journal of Clinical Pathology 156:2, pages 253-258.
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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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Loredana Bury, Emanuela Falcinelli & Paolo Gresele. (2021) Learning the Ropes of Platelet Count Regulation: Inherited Thrombocytopenias. Journal of Clinical Medicine 10:3, pages 533.
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Fred G. Pluthero & Walter H.A. Kahr. (2021) Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects. Journal of Thrombosis and Haemostasis 19:2, pages 318-322.
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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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A. Koneti Rao & Deepak A. Rao. (2020) Gray platelet syndrome: immunity goes awry. Blood 136:17, pages 1898-1900.
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Matthew C. Sims, Louisa Mayer, Janine H. Collins, Tadbir K. BarianaKaryn Megy, Cecile Lavenu-BombledDenis Seyres, Laxmikanth Kollipara, Frances S. BurdenDaniel GreeneDave LeeAntonio Rodriguez-RomeraMarie-Christine AlessiWilliam J. Astle, Wadie F. BahouLoredana BuryElizabeth ChalmersRachael Da SilvaErica De Candia, Sri V. V. Deevi, Samantha FarrowKeith Gomez, Luigi GrassiAndreas Greinacher, Paolo GreseleDan HartMarie-Françoise HurtaudAnne M. Kelly, Ron KerrSandra Le Quellec, Thierry LeblancEva B. Leinøe, Rutendo MapetaHarriet McKinneyAlan D. Michelson, Sara Morais, Diane Nugent, Sofia Papadia, Soo J. ParkJohn Pasi, Gian Marco Podda, Man-Chiu PoonRachel ReedMallika Sekhar, Hanna ShalevSuthesh SivapalaratnamOrna Steinberg-ShemerJonathan C. StephensRobert C. Tait, Ernest Turro, John K. M. Wu, Barbara Zieger, Taco W. Kuijpers, Anthony D. WhettonAlbert SickmannKathleen Freson, Kate Downes, Wendy N. ErberMattia Frontini, Paquita Nurden, Willem H. Ouwehand, Remi Favier & Jose A. Guerrero. (2020) Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. Blood 136:17, pages 1956-1967.
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Richard W. Lo, Ling Li, Fred G. Pluthero, Richard LeungKoji Eto & Walter H. A. Kahr. (2020) The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis. Blood 136:6, pages 715-725.
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Dongjune A. Kim, Katrina J. Ashworth, Jorge Di Paola & David N. Ku. (2020) Platelet α-granules are required for occlusive high-shear-rate thrombosis. Blood Advances 4:14, pages 3258-3267.
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Panpan Meng, Liangliang WuQing LinYiyue Zhang. (2020) Zebrafish for thrombocytopoiesis- and hemostasis-related researches and disorders. Blood Science 2:2, pages 44-49.
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Roger Riley, Asad Khan, Shella Pai, Laura Warmke, Marcus Winkler & William Gunning. (2019) A Case of Chronic Thrombocytopenia in a 17-Year-Old Female. Laboratory Medicine 50:4, pages 406-420.
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Fred G. Pluthero & Walter H.A. Kahr. (2019) Recent advances in inherited platelet disorders. Current Opinion in Hematology 26:5, pages 313-319.
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Ibrahim Almazni, Rachel Stapley & Neil V. Morgan. (2019) Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding. Frontiers in Cardiovascular Medicine 6.
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Andreas Greinacher & Julia J. M. Eekels. (2019) Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier. Blood 133:23, pages 2478-2483.
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Siyuan Jia, Yunyan He, Meirong Lu, Ning Liao, Yonghong Lei, Nikuze Lauriane, Kairong Liang & Hongying Wei. (2019) Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency. Gene 702, pages 143-147.
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