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15 results on '"Ghalloussi, Dorsaf"'

1. Megakaryocytes use in vivo podosome‐like structures working collectively to penetrate the endothelial barrier of bone marrow sinusoids

Author

Eckly, Anita, Scandola, Cyril, Oprescu, Antoine, Michel, Deborah, Rinckel, Jean‐Yves, Proamer, Fabienne, Hoffmann, David, Receveur, Nicolas, Léon, Catherine, Bear, James E., Ghalloussi, Dorsaf, Harousseau, Gabriel, Bergmeier, Wolfgang, Lanza, Francois, Gaits‐Iacovoni, Frédérique, de la Salle, Henri, and Gachet, Christian

Published
2020
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4. Rasa3 deficiency minimally affects thrombopoiesis but promotes severe thrombocytopenia due to integrin-dependent platelet clearance

Author

Lee, Robert H., primary, Ghalloussi, Dorsaf, additional, Harousseau, Gabriel L., additional, Kenny, Joseph P., additional, Kramer, Patrick A., additional, Proamer, Fabienne, additional, Nieswandt, Bernhard, additional, Flick, Matthew J., additional, Gachet, Christian, additional, Casari, Caterina, additional, Eckly, Anita, additional, and Bergmeier, Wolfgang, additional

Published
2022
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6. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors

Author

Poggi, Marjorie, Canault, Matthias, Favier, Marie, Turro, Ernest, Saultier, Paul, Ghalloussi, Dorsaf, Baccini, Veronique, Vidal, Lea, Mezzapesa, Anna, Chelghoum, Nadjim, Mohand-Oumoussa, Badreddine, Falaise, Céline, Favier, Rémi, Ouwehand, Willem H, Fiore, Mathieu, Peiretti, Franck, Morange, Pierre-Emmanuel, Saut, Noémie, Bernot, Denis, Greinacher, Andreas, BioResource, Nihr, Nurden, Alan T, Nurden, Paquita, Freson, Kathleen, Trégouët, David-Alexandre, Raslova, Hana, Alessi, Marie-Christine, Nutrition, obésité et risque thrombotique (NORT), Institut National de la Recherche Agronomique (INRA)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hématopoïèse normale et pathologique (U1170 Inserm), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), The Wellcome Trust Sanger Institute [Cambridge], NOVABUILD, parent, Plateforme Post-génomique de la Pitié-Salpêtrière (P3S), UMS omique (OMIQUE), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de pédiatrie, d'hématologie et d'oncologie [Hôpital de La Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), CNR Institute of Electronics, Computer and Telecommunication Engineering [Torino] (CNR | IEIIT), CNR Istituto di elettronica e di ingegneria dell'informazione e delle telecomunicazioni (CNR | IEIIT), National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR)-National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR), IHU-LIRYC, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux], Center for Molecular and Vascular Biology, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-10-IAHU-05, FDM20150633607, (NIHR) RG65966 (FWO-Vlaanderen, Belgium) G.0B17.13N (BOF KU Leuven, Belgium) OT/14/098, Aix Marseille Université (AMU)-Institut National de la Recherche Agronomique (INRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Matériaux Géomatériaux et Environnement, Université Badji Mokhtar - Annaba [Annaba] (UBMA), Institute of Electronics, Computer and Telecommunication Engineering (IEIIT-CNR), Politecnico di Torino [Torino] (Polito)-Consiglio Nazionale delle Ricerche [Torino] (CNR), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP], Canault, Matthias, Institute of Electronics, Computer and Telecommunication Engineering [Torino] (IEIIT-CNR), Politecnico di Torino = Polytechnic of Turin (Polito)-Consiglio Nazionale delle Ricerche [Torino] (CNR), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de la Méditerranée - Aix-Marseille 2 - Institut National de la Recherche Agronomique (INRA) - Aix Marseille Université (AMU) - Institut National de la Santé et de la Recherche Médicale (INSERM), Université Badji Mokhtar [Annaba], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC) - Assistance publique - Hôpitaux de Paris (AP-HP) - Institut National de la Santé et de la Recherche Médicale (INSERM) - CHU Pitié-Salpêtrière [APHP], Service de pédiatrie, d'hématologie et d'oncologie [CHU La Timone], Assistance Publique - Hôpitaux de Marseille (APHM) - Hôpital de la Timone [CHU - APHM] (TIMONE), Université Paris-Sud - Paris 11 (UP11) - Institut Gustave Roussy (IGR) - Institut National de la Santé et de la Recherche Médicale (INSERM), IEIIT-CNR, Politecnico di Torino [Torino] (Polito), Université Bordeaux Segalen - Bordeaux 2 - CHU Bordeaux [Bordeaux], University of Leuven, Turro Bassols, Ernest [0000-0002-1820-6563], Ouwehand, Willem [0000-0002-7744-1790], and Apollo - University of Cambridge Repository

Subjects
Male, [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, Transcription, Genetic, Antigens, CD34, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.BC.IC] Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], progéniteur érythrocytaire, mégacaryocyte, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Familial thrombocytopenia, cellule hematopoietique, ComputingMilieux_MISCELLANEOUS, séquence d'adn, CDC42, Cell Differentiation, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Hematology, Articles, CR-1 GENE, Pedigree, Phenotype, Female, Life Sciences & Biomedicine, Megakaryocytes, EXPRESSION, Platelets, Blood Platelets, Genotype, DNA-BINDING, Immunology, Médecine humaine et pathologie, gène autosomal, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 1102 Cardiovascular Medicine And Haematology, hematopoietic cell, Thrombopoiesis, Megakaryocyte, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BC.BC] Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], hémopathie, Humans, Family, Germ-Line Mutation, Science & Technology, Hyperplasia, Proto-Oncogene Proteins c-ets, MUTATIONS, Platelet Count, THROMBOCYTOPENIA, AUTOINHIBITION, Hematopoietic Stem Cells, Hematopoiesis, Blood Cell Count, Repressor Proteins, thrombocyte, Gene Expression Regulation, cellule germinale, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, TEL, TEL/AML1 FUSION PROTEIN, Human health and pathology, germ-line cells, LEUKEMIA
Abstract

Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6, of which five are novel. We observed low repressive activity of all tested ETV6 variants and variants located in the E26 transformation-specific binding domain (encoding p.A377T, p.Y401N) led to reduced binding to co-repressors. We also observed large expansion of CFU-MKs derived from variant carriers and reduced proplatelet formation with abnormal cytoskeletal organization. The defect in proplatelet formation was also observed in control CD34+ cell-derived megakaryocytes transduced with lentiviral particles encoding mutant ETV6. Reduced expression levels of key regulators of the actin cytoskeleton Cdc42 and RhoA were measured. Moreover, changes in the actin structures are typically accompanied by a rounder platelet shape with a highly heterogeneous size, decreased platelet arachidonic response, spreading and retarded clot retraction in ETV6 deficient platelets. Elevated numbers of circulating CD34+ cells were found in p.P214L and p.Y401N carriers, and two patients from different families suffered from refractory anemia with excess blasts while one patient from a third family was successfully treated for acute myeloid leukemia. Overall, our study provides novel insights into the role of ETV6 as a driver of cytoskeletal regulatory gene expression during platelet production and the impact of variants resulting in platelets with altered size, shape and function and potentially also in changes in circulating progenitor levels. ispartof: Haematologica vol:102 issue:2 pages:282-294 ispartof: location:Italy status: published

Published
2017

8. Deletion of the Arp2/3 complex in megakaryocytes leads to microthrombocytopenia in mice

Author

Paul, David S., primary, Casari, Caterina, additional, Wu, Congying, additional, Piatt, Raymond, additional, Pasala, Swetha, additional, Campbell, Robert A., additional, Poe, Kathryn O., additional, Ghalloussi, Dorsaf, additional, Lee, Robert H., additional, Rotty, Jeremy D., additional, Cooley, Brian C., additional, Machlus, Kellie R., additional, Italiano, Joseph E., additional, Weyrich, Andrew S., additional, Bear, James E., additional, and Bergmeier, Wolfgang, additional

Published
2017
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9. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 + progenitors

Author

Poggi, Marjorie, primary, Canault, Matthias, additional, Favier, Marie, additional, Turro, Ernest, additional, Saultier, Paul, additional, Ghalloussi, Dorsaf, additional, Baccini, Veronique, additional, Vidal, Lea, additional, Mezzapesa, Anna, additional, Chelghoum, Nadjim, additional, Mohand-Oumoussa, Badreddine, additional, Falaise, Céline, additional, Favier, Rémi, additional, Ouwehand, Willem H., additional, Fiore, Mathieu, additional, Peiretti, Franck, additional, Morange, Pierre Emmanuel, additional, Saut, Noémie, additional, Bernot, Denis, additional, Greinacher, Andreas, additional, BioResource, NIHR, additional, Nurden, Alan T., additional, Nurden, Paquita, additional, Freson, Kathleen, additional, Trégouët, David-Alexandre, additional, Raslova, Hana, additional, and Alessi, Marie-Christine, additional

Published
2016
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10. First report of a CalDAG-GEFI gene (RASGRP2) mutation in humans that affects platelet function and causes severe bleeding

Author

Canault, Matthias, Ghalloussi, Dorsaf, Grosdidier, Charlotte, Morange, Pierre E., Pillois, Xavier, Nurden, Allan T., Kuijpers, Taco W., Tregouet, David-Alexandre, Alessi, Marie-Christine, Nutriments Lipidiques et Prévention des Maladies Métaboliques, Université de la Méditerranée - Aix-Marseille 2-Institut National de la Recherche Agronomique (INRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Xavier Arnozan, Vrije Universiteit Amsterdam [Amsterdam] (VU), Institut National de la Santé et de la Recherche Médicale (INSERM), Nutrition, obésité et risque thrombotique (NORT), Institut National de la Recherche Agronomique (INRA)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), International Society on Thrombosis and Haemostasis (ISTH). INT., VU University Amsterdam, Aix Marseille Université (AMU)-Institut National de la Recherche Agronomique (INRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU)

Subjects
[SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2013

11. A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia.

Author

Ghalloussi, Dorsaf, Saut, Noémie, Bernot, Denis, Pillois, Xavier, Rameau, Philippe, Sébahoun, Gérard, Alessi, Marie‐Christine, Raslova, Hana, and Baccini, Véronique

Subjects
*THROMBOCYTOPENIA, *GENETIC mutation, *IDIOPATHIC thrombocytopenic purpura, *THERAPEUTIC use of immunoglobulins, *SPLENECTOMY
Abstract

The article highlights the study that gene mutation is responsible for macrothrombocytopenia. Topics discussed include Introduction on Congenital macro thrombocytopenias characterized by decreased platelets count with enlarged platelet size; misdiagnoses of patients with idiopathic thrombocytopenic purpura and wrongly treated with splenectomy; and therapeutic use of immunoglobulin in the treatment..

Published
2018
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12. First case of a humanRASGRP2mutation affecting Rap1 activation in platelets and causing severe bleeding.

Author

Canault, Matthias, primary, Ghalloussi, Dorsaf, additional, Grosdidier, Charlotte, additional, Guinier, Marie, additional, Perret, Claire, additional, Chelghoum, Nadjim, additional, Germain, Marine, additional, Raslova, Hana, additional, Peiretti, Franck, additional, Morange, Pierre E., additional, Saut, Noemie, additional, Pillois, Xavier, additional, Nurden, Alan T., additional, Cambien, François, additional, Pierres, Anne, additional, van den Berg, Timo K., additional, Kuijpers, Taco W., additional, Alessi, Marie-Christine, additional, and Tregouet, David-Alexandre, additional

Published
2014
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13. Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding

Author

Canault, Matthias, primary, Ghalloussi, Dorsaf, additional, Grosdidier, Charlotte, additional, Guinier, Marie, additional, Perret, Claire, additional, Chelghoum, Nadjim, additional, Germain, Marine, additional, Raslova, Hana, additional, Peiretti, Franck, additional, Morange, Pierre E., additional, Saut, Noemie, additional, Pillois, Xavier, additional, Nurden, Alan T., additional, Cambien, François, additional, Pierres, Anne, additional, van den Berg, Timo K., additional, Kuijpers, Taco W., additional, Alessi, Marie-Christine, additional, and Tregouet, David-Alexandre, additional

Published
2014
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14. ANKRD26-related thrombocytopenia and myeloid malignancies

Author

Noris, Patrizia, primary, Favier, Remi, additional, Alessi, Marie-Christine, additional, Geddis, Amy E., additional, Kunishima, Shinji, additional, Heller, Paula G., additional, Giordano, Paola, additional, Niederhoffer, Karen Y., additional, Bussel, James B., additional, Podda, Gian Marco, additional, Vianelli, Nicola, additional, Kersseboom, Rogier, additional, Pecci, Alessandro, additional, Gnan, Chiara, additional, Marconi, Caterina, additional, Auvrignon, Anne, additional, Cohen, William, additional, Yu, Jennifer C., additional, Iguchi, Akihiro, additional, Miller Imahiyerobo, Allison, additional, Boehlen, Francoise, additional, Ghalloussi, Dorsaf, additional, De Rocco, Daniela, additional, Magini, Pamela, additional, Civaschi, Elisa, additional, Biino, Ginevra, additional, Seri, Marco, additional, Savoia, Anna, additional, and Balduini, Carlo L., additional

Published
2013
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15. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

Author

Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise C, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, BioResource N, Nurden AT, Nurden P, Freson K, Trégouët DA, Raslova H, and Alessi MC

Subjects
Antigens, CD34 metabolism, Blood Cell Count, Cell Differentiation, Family, Female, Gene Expression Regulation, Genotype, Humans, Hyperplasia, Male, Megakaryocytes cytology, Megakaryocytes metabolism, Megakaryocytes pathology, Pedigree, Phenotype, Platelet Count, Proto-Oncogene Proteins c-ets metabolism, Repressor Proteins metabolism, Transcription, Genetic, ETS Translocation Variant 6 Protein, Blood Platelets metabolism, Germ-Line Mutation, Hematopoietic Stem Cells cytology, Hematopoietic Stem Cells metabolism, Proto-Oncogene Proteins c-ets genetics, Repressor Proteins genetics, Thrombopoiesis genetics
Abstract

Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6, of which five are novel. We observed low repressive activity of all tested ETV6 variants, and variants located in the E26 transformation-specific binding domain (encoding p.A377T, p.Y401N) led to reduced binding to corepressors. We also observed a large expansion of megakaryocyte colony-forming units derived from variant carriers and reduced proplatelet formation with abnormal cytoskeletal organization. The defect in proplatelet formation was also observed in control CD34 + cell-derived megakaryocytes transduced with lentiviral particles encoding mutant ETV6. Reduced expression levels of key regulators of the actin cytoskeleton CDC42 and RHOA were measured. Moreover, changes in the actin structures are typically accompanied by a rounder platelet shape with a highly heterogeneous size, decreased platelet arachidonic response, and spreading and retarded clot retraction in ETV6 deficient platelets. Elevated numbers of circulating CD34 + cells were found in p.P214L and p.Y401N carriers, and two patients from different families suffered from refractory anemia with excess blasts, while one patient from a third family was successfully treated for acute myeloid leukemia. Overall, our study provides novel insights into the role of ETV6 as a driver of cytoskeletal regulatory gene expression during platelet production, and the impact of variants resulting in platelets with altered size, shape and function and potentially also in changes in circulating progenitor levels., (Copyright© Ferrata Storti Foundation.)

Published
2017
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