Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Manon Saby"'
Autor:
Marie-Françoise O’Donohue, Lydie Da Costa, Marco Lezzerini, Sule Unal, Clément Joret, Marije Bartels, Eva Brilstra, Marijn Scheijde-Vermeulen, Ludivine Wacheul, Kim De Keersmaecker, Stijn Vereecke, Veerle Labarque, Manon Saby, Sophie D. Lefevre, Jessica Platon, Nathalie Montel-Lehry, Nathalie Laugero, Eric Lacazette, Koen van Gassen, Riekelt H. Houtkooper, Pelin Ozlem Simsek-Kiper, Thierry Leblanc, Nese Yarali, Arda Cetinkaya, Nurten A. Akarsu, Pierre-Emmanuel Gleizes, Denis L. J. Lafontaine, Alyson W. MacInnes
Publikováno v:
Blood, 139(21), 3111-3126. American Society of Hematology
O'Donohue, M-F, da Costa, L, Lezzerini, M, Unal, S, Joret, C, Bartels, M, Brilstra, E, Scheijde-Vermeulen, M, Wacheul, L, de Keersmaecker, K, Vereecke, S, Labarque, V, Saby, M, Lefevre, S D, Platon, J, Montel-Lehry, N, Laugero, N, Lacazette, E, van Gassen, K, Houtkooper, R H, Simsek-Kiper, P O, Leblanc, T, Yarali, N, Cetinkaya, A, Akarsu, N A, Gleizes, P-E, Lafontaine, D L J & MacInnes, A W 2022, ' HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia ', Blood, vol. 139, no. 21, pp. 3111-3126 . https://doi.org/10.1182/blood.2021011846
O'Donohue, M-F, da Costa, L, Lezzerini, M, Unal, S, Joret, C, Bartels, M, Brilstra, E, Scheijde-Vermeulen, M, Wacheul, L, de Keersmaecker, K, Vereecke, S, Labarque, V, Saby, M, Lefevre, S D, Platon, J, Montel-Lehry, N, Laugero, N, Lacazette, E, van Gassen, K, Houtkooper, R H, Simsek-Kiper, P O, Leblanc, T, Yarali, N, Cetinkaya, A, Akarsu, N A, Gleizes, P-E, Lafontaine, D L J & MacInnes, A W 2022, ' HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia ', Blood, vol. 139, no. 21, pp. 3111-3126 . https://doi.org/10.1182/blood.2021011846
The congenital bone marrow failure syndrome Diamond-Blackfan anemia (DBA) is typically associated with variants in ribosomal protein (RP) genes impairing erythroid cell development. Here we report multiple individuals with biallelic HEATR3 variants e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd4100cf484e864275fa42206f6a6809
https://research.vumc.nl/en/publications/7731263a-7b25-4244-b994-0a42cb7e6400
https://research.vumc.nl/en/publications/7731263a-7b25-4244-b994-0a42cb7e6400
Autor:
Marianna Penzo, Riekelt H. Houtkooper, Marjolijn C.J. Jongmans, Alexandra Nin-Velez, Carolina Marques dos Santos Vieira, Evelien Zonneveld-Huijssoon, Alexandra N. Olson, Roland P. Kuiper, Anne-Marie Hesse, Marie-Françoise O'Donohue, Marc Bierings, Hyung L. Elfrink, Michel van Weeghel, Marco Lezzerini, Manon Saby, Peter G. J. Nikkels, Alyson W. MacInnes, Lydie Da Costa, Illja J. Diets, Pierre-Emmanuel Gleizes, Jonathan D. Dinman, Marc Gastou, Lorenzo Montanaro, Yohann Couté, Thierry Leblanc, GuangJun Zhang, Marcin W. Wlodarski, Jutte van der Werff ten Bosch
Publikováno v:
Nucleic Acids Research
Nucleic Acids Research, 2020, 48 (2), pp.770-787. ⟨10.1093/nar/gkz1042⟩
Nucleic acids research, 48(2), 770-787. Oxford University Press
Nucleic Acids Research, 48(2), 770-787. Oxford University Press
Nucleic Acids Research, 48, 770-787
Nucleic Acids Research, Oxford University Press, 2020, 48 (2), pp.770-787. ⟨10.1093/nar/gkz1042⟩
Nucleic Acids Research, 48, 2, pp. 770-787
Nucleic Acids Research, 2020, 48 (2), pp.770-787. ⟨10.1093/nar/gkz1042⟩
Nucleic acids research, 48(2), 770-787. Oxford University Press
Nucleic Acids Research, 48(2), 770-787. Oxford University Press
Nucleic Acids Research, 48, 770-787
Nucleic Acids Research, Oxford University Press, 2020, 48 (2), pp.770-787. ⟨10.1093/nar/gkz1042⟩
Nucleic Acids Research, 48, 2, pp. 770-787
Contains fulltext : 218593.pdf (Publisher’s version ) (Open Access) Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer. Inherited and sporadic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa16e196f68a14dd6e43d49d8991d4fc
https://doi.org/10.1093/nar/gkz1042
https://doi.org/10.1093/nar/gkz1042
Autor:
Katherine R. Nelson, Emilien Orgebin, Loic Geoffroy, Shawn R. Gilbert, Marie-Françoise O'Donohue, Antoine Hamel, Leonid Zeitlin, Stéphane Téletchéa, Annick Toutain, Richard Redon, Alexander Pepler, Benjamin Cogné, Stéphane Bézieau, Pierre Lindenbaum, Robel Tesfaye, Marc Baud'huin, Mathilde Nizon, Cédric Le Caignec, Christelle Retière, Lydie Da Costa, Manon Saby, Benoît de Courtivron, Yael Wilnai, Aliette Decock-Giraudaud, Benjamin Ory, Céline Charrier, Anna C.E. Hurst, Bertrand Isidor, Emmanuelle Mayrargue, Pierre-Emmanuel Gleizes, Kirsty McWalter, Francois Lamoureux, Olivier Pichon, Eitan Segev
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2019.09.024⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2019.09.024⟩
Am J Hum Genet
Variants in genes encoding ribosomal proteins have thus far been associated with Diamond-Blackfan anemia, a rare inherited bone marrow failure, and isolated congenital asplenia. Here, we report one de novo missense variant and three de novo splice va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::395f5a105ec7adf07a5937db715ea6dc
https://hal.archives-ouvertes.fr/hal-02327833
https://hal.archives-ouvertes.fr/hal-02327833