Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Nathalie, Balayn"'
Autor:
Francesca Basso-Valentina, Alessandro Donada, Vladimir T Manchev, Manuel Lisetto, Nathalie Balayn, Jean Edouard Martin, Delphine Muller, Cecilia Paola Marin Oyarzun, Hélène Duparc, Brahim Arkoun, Alessandro Cumin, Lionel Faivre, Nathalie Droin, Ida Biunno, Alessandro Pecci, Alessandra Balduini, Najet Debili, Iléana Antony-Debré, Caroline Marty, William Vainchenker, Isabelle Plo, Remi Favier, Hana Raslova
Publikováno v:
Haematologica, Vol 108, Iss 8 (2023)
Sustained ANKRD26 expression associated with germline ANKRD26 mutations causes thrombocytopenia 2 (THC2), an inherited platelet disorder associated with a predisposition to leukemia. Some patients also present with erythrocytosis and/or leukocytosis.
Externí odkaz:
https://doaj.org/article/ea73fe6f815643c19db0d298819699a2
Autor:
Ana C. Glembotsky, Dominika Sliwa, Dominique Bluteau, Nathalie Balayn, Cecilia P. Marin Oyarzún, Anna Raimbault, Marie Bordas, Nathalie Droin, Iryna Pirozhkova, Valance Washington, Nora P. Goette, Rosana F. Marta, Rémi Favier, Hana Raslova, Paula G. Heller
Publikováno v:
Haematologica, Vol 104, Iss 6 (2019)
Germline RUNX1 mutations lead to thrombocytopenia and platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia (AML). Multiple aspects of platelet function are impaired in these patients, associated with al
Externí odkaz:
https://doaj.org/article/339e7f5175834da7a016b084f1a82957
Autor:
Francesca Basso-Valentina, Alessandro Donada, Vladimir T Manchev, Manuel Lisetto, Nathalie Balayn, Jean Edouard Martin, Delphine Muller, Cecilia Paola Marin Oyarzun, Hélène Duparc, Brahim Arkoun, Alessandro Cumin, Lionel Faivre, Nathalie Droin, Ida Biunno, Alessandra Balduini, Najet Debili, Iléana Antony-Debré, Caroline Marty, William Vainchenker, Isabelle Plo, Remi Favier, Hana Raslova
Publikováno v:
bioRxiv
Sustained ANKRD26 expression associated with germline ANKRD26 mutations causes Thrombocytopenia 2 (THC2), an inherited platelet disorder associated with leukemia predisposition. Some of those patients present also erythrocytosis and/or leukocytosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0557b431e826cb53002ad45c084f18d6
https://doi.org/10.1101/2022.09.01.506160
https://doi.org/10.1101/2022.09.01.506160
Autor:
Hana Raslova, Isabelle Plo, Paola Ballerini, Rémi Favier, Caroline Marty, Leila N. Varghese, Myriam Oufadem, Gabriel Levy, Nathalie Balayn, Francesca Basso-Valentina, Charlotte Boussard, William Vainchenker, Bénédicte Neven, Stefan N. Constantinescu
Publikováno v:
Blood, Vol. 138, no. 6, p. 480-485 (2021)
Congenital amegakaryocytic thrombocytopenia (CAMT) is a severe inherited thrombocytopenia due to loss-of-function mutations affecting the thrombopoietin (TPO) receptor, MPL. Here, we report a new homozygous MPL variant responsible for CAMT in 1 consa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3113b487ce67fdc5adb5accbe705d87c
https://hdl.handle.net/2078.1/251833
https://hdl.handle.net/2078.1/251833
Autor:
William Vainchenker, Dominika Sliwa, Hana Raslova, Francesco Baschieri, Marijke Bryckaert, Najet Debili, Lucie Tosca, Nathalie Balayn, Cécile V. Denis, Jean-Philippe Rosa, Valentina Ceglia, Alessandro Donada, Cyril Goizet, Isabelle Plo, Gérard Tachdjian, Larissa Lordier, Rémi Favier
Publikováno v:
Blood
Filamin A (FLNa) links the cell membrane with the cytoskeleton and is central in several cellular processes. Heterozygous mutations in the X-linked FLNA gene are associated with a large spectrum of conditions, including macrothrombocytopenia, called
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::446382660c50d9f86390b0491e82204f
https://europepmc.org/articles/PMC6484462/
https://europepmc.org/articles/PMC6484462/
Autor:
Ana C, Glembotsky, Dominika, Sliwa, Dominique, Bluteau, Nathalie, Balayn, Cecilia P, Marin Oyarzún, Anna, Raimbault, Marie, Bordas, Nathalie, Droin, Iryna, Pirozhkova, Valance, Washington, Nora P, Goette, Rosana F, Marta, Rémi, Favier, Hana, Raslova, Paula G, Heller
Publikováno v:
Haematologica
Germline RUNX1 mutations lead to thrombocytopenia and platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia (AML). Multiple aspects of platelet function are impaired in these patients, associated with al
Autor:
William Vainchenker, Hana Raslova, Laure Gilles, Paula G. Heller, Rémi Favier, Paquita Nurden, Najet Debili, Ana C. Glembotsky, Nathalie Balayn, Anna Raimbault, Philippe Rameau, Marie-Christine Alessi, Dominique Bluteau
Publikováno v:
Blood. 120:2708-2718
FPD/AML is a familial platelet disorder characterized by platelet defects, predisposition to acute myelogenous leukemia (AML) and germ-line heterozygous RUNX1 alterations. Here we studied the in vitro megakaryopoiesis of 3 FPD/AML pedigrees. A 60% to
Autor:
Mitchell J. Weiss, Eric Solary, Deborah L. French, Thierry Langlois, Olivia Bawa, Lucie Tosca, Vladimir T. Manchev, Cécile Tomowiak, Gérard Tachdjian, Nathalie Balayn, William Vainchenker, Jason A. Mills, Iléana Antony-Debré, Rémi Favier, Isabelle Plo, Hana Raslova, Najet Debili, Dominique Bluteau, Bruno Leheup, Céline Legrand
Publikováno v:
Blood
Blood, American Society of Hematology, 2015, pp.930-940. ⟨10.1182/blood-2014-06-585513⟩
Blood, American Society of Hematology, 2015, pp.930-940. ⟨10.1182/blood-2014-06-585513⟩
International audience; A half loss of RUNX1 activity leads to defects in primitive erythropoiesis, megakaryopoiesis, and proplatelet formation. • An almost complete loss of RUNX1 activity leads to the amplification of the granulomonocytic compartm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a1a534960f26b7e44753b88be85847
https://hal.univ-lorraine.fr/hal-01681166
https://hal.univ-lorraine.fr/hal-01681166
Autor:
Paquita Nurden, Eric Solary, William Vainchenker, Hana Raslova, Silverio Perrotta, Alessandra Balduini, Patrizia Noris, Guy Leverger, Najet Debili, Nathalie Balayn, Rémi Favier, Caroline Deswarte, Dominique Bluteau, Manuela Currao
Publikováno v:
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2014, 124 (2), pp.580-591. ⟨10.1172/JCI71861⟩
Europe PubMed Central
Journal of Clinical Investigation, 2014, 124 (2), pp.580-591. ⟨10.1172/JCI71861⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2014, 124 (2), pp.580-591. ⟨10.1172/JCI71861⟩
Europe PubMed Central
Journal of Clinical Investigation, 2014, 124 (2), pp.580-591. ⟨10.1172/JCI71861⟩
International audience; Point mutations in the 5′ UTR of ankyrin repeat domain 26 (ANKRD26) are associated with familial throm-bocytopenia 2 (THC2) and a predisposition to leukemia. Here, we identified underlying mechanisms of ANKRD26-associated th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eefdcd3589935df7e507211e686c91c
https://hal.sorbonne-universite.fr/hal-01329310
https://hal.sorbonne-universite.fr/hal-01329310
Autor:
Nathalie Balayn, Jeannine Choppin, Cecile Demeur, Anne-Françoise Tilkin–Mariamé, Francine Connan, Cécile Gouttefangeas
Publikováno v:
Human Immunology. 55:117-126
RAS oncogenic proteins are frequently found mutated in human cancers, where they are known to be implicated in the tumoral process. Mutations occur preferentially at positions 12, 13 or 61. Identification of potential T cell epitopes is the first ste