Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy

door Nurden, Paquita, Stritt, Simon, Favier, Remi, Nurden, Alan T.
Gepubliceerd in Haematologica (2020)

Identification of MPL R102P Mutation in Hereditary Thrombocytosis

door Bellanné-Chantelot, Christine, Mosca, Matthieu, Marty, Caroline, Favier, Rémi, Vainchenker, William, Plo, Isabelle
Gepubliceerd in Front Endocrinol (Lausanne) (2017)

MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane

door Smith, Alyson S., Pal, Kasturi, Nowak, Roberta B., Demenko, Anastasiya, Zaninetti, Carlo, Da Costa, Lydie, Favier, Remi, Pecci, Alessandro, Fowler, Velia M.
Gepubliceerd in Am J Hematol (2019)

FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia

door Raslova, Hana, Komura, Emiko, Le Couédic, Jean Pierre, Larbret, Frederic, Debili, Najet, Feunteun, Jean, Danos, Olivier, Albagli, Olivier, Vainchenker, William, Favier, Rémi
Gepubliceerd in 2004

Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity

door Sanborn, Keri B., Mace, Emily M., Rak, Gregory D., Difeo, Analisa, Martignetti, John A., Pecci, Alessandro, Bussel, James B., Favier, Rémi, Orange, Jordan S.
Gepubliceerd in 2011

Myosin IIA associates with NK cell lytic granules to enable their interaction with F-actin and function at the immunological synapse

door Sanborn, Keri B., Rak, Gregory D., Maru, Saumya Y., Demers, Korey, Difeo, Analisa, Martignetti, John A, Betts, Michael R., Favier, Rémi, Banerjee, Pinaki P., Orange, Jordan S.
Gepubliceerd in 2009

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

door Bluteau, Dominique, Balduini, Alessandra, Balayn, Nathalie, Currao, Manuela, Nurden, Paquita, Deswarte, Caroline, Leverger, Guy, Noris, Patrizia, Perrotta, Silverio, Solary, Eric, Vainchenker, William, Debili, Najet, Favier, Remi, Raslova, Hana
Gepubliceerd in 2014

Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre‐leukaemic clone resulting in T2‐ALL and AML‐M0

door Manchev, Vladimir T., Bouzid, Hind, Antony‐Debré, Iléana, Leite, Betty, Meurice, Guillaume, Droin, Nathalie, Prebet, Thomas, Costello, Régis T., Vainchenker, William, Plo, Isabelle, Diop, M'boyba, Macintyre, Elizabeth, Asnafi, Vahid, Favier, Rémi, Baccini, Véronique, Raslova, Hana
Gepubliceerd in J Cell Mol Med (2016)

Disrupted filamin A/α(IIb)β(3) interaction induces macrothrombocytopenia by increasing RhoA activity

door Donada, Alessandro, Balayn, Nathalie, Sliwa, Dominika, Lordier, Larissa, Ceglia, Valentina, Baschieri, Francesco, Goizet, Cyril, Favier, Rémi, Tosca, Lucie, Tachdjian, Gérard, Denis, Cecile V., Plo, Isabelle, Vainchenker, William, Debili, Najet, Rosa, Jean-Philippe, Bryckaert, Marijke, Raslova, Hana
Gepubliceerd in Blood (2019)

Downregulation of TREM-like transcript-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predispos...

door Glembotsky, Ana C., Sliwa, Dominika, Bluteau, Dominique, Balayn, Nathalie, Marin Oyarzún, Cecilia P., Raimbault, Anna, Bordas, Marie, Droin, Nathalie, Pirozhkova, Iryna, Washington, Valance, Goette, Nora P., Marta, Rosana F., Favier, Rémi, Raslova, Hana, Heller, Paula G.
Gepubliceerd in Haematologica (2019)

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

door Manchev, Vladimir T., Hilpert, Morgane, Berrou, Eliane, Elaib, Ziane, Aouba, Achille, Boukour, Siham, Souquere, Sylvie, Pierron, Gerard, Rameau, Philippe, Andrews, Robert, Lanza, François, Bobe, Regis, Vainchenker, William, Rosa, Jean-Philippe, Bryckaert, Marijke, Debili, Najet, Favier, Remi, Raslova, Hana
Gepubliceerd in 2014

Germline RUNX1 Intragenic Deletion: Implications for Accurate Diagnosis of FPD/AML

door Duployez, Nicolas, Martin, Jean-Edouard, Khalife-Hachem, Sabine, Benkhelil, Ryane, Saada, Véronique, Marzac, Christophe, Auger, Nathalie, Marceau-Renaut, Alice, Favier, Rémi, Ballerini, Paola, Caron, Olivier, Baruchel, André, de Botton, Stéphane, Preudhomme, Claude, Micol, Jean-Baptiste, Raslova, Hana, Antony-Debré, Iléana
Gepubliceerd in Hemasphere (2019)

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

door Rensing-Ehl, Anne, Pannicke, Ulrich, Zimmermann, Stefanie-Yvonne, Lorenz, Myriam Ricarda, Neven, Benedicte, Fuchs, Ilka, Salzer, Ulrich, Speckmann, Carsten, Strauss, Anne, Maaβ, Eberhard, Collet, Benedicte, Enders, Anselm, Favier, Remi, Alessi, Marie Christine, Rieux-Laucat, Frederic, Zieger, Barbara, Schwarz, Klaus, Ehl, Stephan
Gepubliceerd in Blood (2015)

Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia

door Antony-Debré, Iléana, Manchev, Vladimir T., Balayn, Nathalie, Bluteau, Dominique, Tomowiak, Cécile, Legrand, Céline, Langlois, Thierry, Bawa, Olivia, Tosca, Lucie, Tachdjian, Gérard, Leheup, Bruno, Debili, Najet, Plo, Isabelle, Mills, Jason A., French, Deborah L., Weiss, Mitchell J., Solary, Eric, Favier, Remi, Vainchenker, William, Raslova, Hana
Gepubliceerd in Blood (2015)

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

door Latger-Cannard, Veronique, Philippe, Christophe, Bouquet, Alexandre, Baccini, Veronique, Alessi, Marie-Christine, Ankri, Annick, Bauters, Anne, Bayart, Sophie, Cornillet-Lefebvre, Pascale, Daliphard, Sylvie, Mozziconacci, Marie-Joelle, Renneville, Aline, Ballerini, Paola, Leverger, Guy, Sobol, Hagay, Jonveaux, Philippe, Preudhomme, Claude, Nurden, Paquita, Lecompte, Thomas, Favier, Remi
Gepubliceerd in Orphanet J Rare Dis (2016)

Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia

door Hirsch, Pierre, Zhang, Yanyan, Tang, Ruoping, Joulin, Virginie, Boutroux, Hélène, Pronier, Elodie, Moatti, Hannah, Flandrin, Pascale, Marzac, Christophe, Bories, Dominique, Fava, Fanny, Mokrani, Hayat, Betems, Aline, Lorre, Florence, Favier, Rémi, Féger, Frédéric, Mohty, Mohamad, Douay, Luc, Legrand, Ollivier, Bilhou-Nabera, Chrystèle, Louache, Fawzia, Delhommeau, François
Gepubliceerd in Nat Commun (2016)

Nbeal2 interacts with Dock7, Sec16a, and Vac14

door Mayer, Louisa, Jasztal, Maria, Pardo, Mercedes, Aguera de Haro, Salvadora, Collins, Janine, Bariana, Tadbir K., Smethurst, Peter A., Grassi, Luigi, Petersen, Romina, Nurden, Paquita, Favier, Rémi, Yu, Lu, Meacham, Stuart, Astle, William J., Choudhary, Jyoti, Yue, Wyatt W., Ouwehand, Willem H., Guerrero, Jose A.
Gepubliceerd in Blood (2018)

Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome

door Albers, Cornelis A, Cvejic, Ana, Favier, Rémi, Bouwmans, Evelien E, Alessi, Marie-Christine, Bertone, Paul, Jordan, Gregory, Kettleborough, Ross NW, Kiddle, Graham, Kostadima, Myrto, Read, Randy J, Sipos, Botond, Sivapalaratnam, Suthesh, Smethurst, Peter A, Stephens, Jonathan, Voss, Katrin, Nurden, Alan, Rendon, Augusto, Nurden, Paquita, Ouwehand, Willem H
Gepubliceerd in 2011

Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture

door Stritt, Simon, Nurden, Paquita, Favier, Remi, Favier, Marie, Ferioli, Silvia, Gotru, Sanjeev K., van Eeuwijk, Judith M M., Schulze, Harald, Nurden, Alan T., Lambert, Michele P., Turro, Ernest, Burger-Stritt, Stephanie, Matsushita, Masayuki, Mittermeier, Lorenz, Ballerini, Paola, Zierler, Susanna, Laffan, Michael A., Chubanov, Vladimir, Gudermann, Thomas, Nieswandt, Bernhard, Braun, Attila
Gepubliceerd in Nat Commun (2016)

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

door van Oorschot, Rinske, Marneth, Anna E., Bergevoet, Saskia M., van Bergen, Maaike G.J.M., Peerlinck, Kathelijne, Lentaigne, Claire E., Millar, Carolyn M., Westbury, Sarah K., Favier, Remi, Erber, Wendy N., Turro, Ernest, Jansen, Joop H., Ouwehand, Willem H., McKinney, Harriet L., Downes, Kate, Freson, Kathleen, van der Reijden, Bert A.
Gepubliceerd in Haematologica (2019)