Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Nathalie Montel-Lehry"'
Autor:
Marcin W. Wlodarski, Lydie Da Costa, Marie-Françoise O’Donohue, Marc Gastou, Narjesse Karboul, Nathalie Montel-Lehry, Ina Hainmann, Dominika Danda, Amina Szvetnik, Victor Pastor, Nahuel Paolini, Franca M. di Summa, Hannah Tamary, Abed Abu Quider, Anna Aspesi, Riekelt H. Houtkooper, Thierry Leblanc, Charlotte M. Niemeyer, Pierre-Emmanuel Gleizes, Alyson W. MacInnes
Publikováno v:
Haematologica, Vol 103, Iss 6 (2018)
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. Here the European DBA consortium reports novel mutations identified in the RPL15 gene in 6 unrelated individuals
Externí odkaz:
https://doaj.org/article/cf876bd41ad548e6828f1cff73feeeec
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:
François Morlé, Stéphane Giraudier, Eric Soler, Naomi Taylor, Charlotte Andrieu-Soler, Olivier Hermine, Patrick Mayeux, Célia Floquet, Rose Ann Padua, Frédérique Verdier, Sarah Ducamp, Michaela Fontenay, Mohammad Salma, Elisabeth M. Cramer-Borde, Ismael Boussaid, Anna Raimbault, Isabelle Hatin, Diane d'Allard, Amandine Houvert, Narla Mohandas, Boris Guyot, Emilie-Fleur Gautier, Sandrina Kinet, Marjorie Leduc, Pierre-Emmanuel Gleizes, Jean-Jacques Diaz, Salomé Le Goff, François Guillonneau, Nathalie Montel-Lehry
Publikováno v:
Blood
Blood, American Society of Hematology, 2021, 137 (1), pp.89-102. ⟨10.1182/blood.2019003439⟩
Blood, 2020, ⟨10.1182/blood.2019003439⟩
Blood, American Society of Hematology, 2020, ⟨10.1182/blood.2019003439⟩
Blood, American Society of Hematology, 2020, 137 (1), pp.89-102. ⟨10.1182/blood.2019003439⟩
Blood, 2021, 137 (1), pp.89-102. ⟨10.1182/blood.2019003439⟩
Blood, American Society of Hematology, 2021, 137 (1), pp.89-102. ⟨10.1182/blood.2019003439⟩
Blood, 2020, ⟨10.1182/blood.2019003439⟩
Blood, American Society of Hematology, 2020, ⟨10.1182/blood.2019003439⟩
Blood, American Society of Hematology, 2020, 137 (1), pp.89-102. ⟨10.1182/blood.2019003439⟩
Blood, 2021, 137 (1), pp.89-102. ⟨10.1182/blood.2019003439⟩
The role of ribosome biogenesis in erythroid development is supported by the recognition of erythroid defects in ribosomopathies in both Diamond-Blackfan anemia and 5q− syndrome. Whether ribosome biogenesis exerts a regulatory function on normal er
Autor:
Aaron Cheng, David J. Amor, Colin A. Sieff, Nour J. Abdulhay, Claudia Fiorini, David G. Nathan, Beryl B. Cummings, Bertil Glader, Leif S. Ludwig, Peter E. Newburger, Stacey Gabriel, Giulio Genovese, Anupama Narla, Daniel G. MacArthur, Shideh Kazerounian, Alan H. Beggs, Edyta Niewiadomska, Namrata Gupta, Elaine T. Lim, Ron Do, Adrianna Vlachos, Casie A. Genetti, Katherine R. Chao, Pierre-Emmanuel Gleizes, Jeffrey M. Verboon, Jeffrey M. Lipton, Hanna T. Gazda, Lydie Da Costa, Jacob C. Ulirsch, Andrei A. Korostelev, Robert E. Handsaker, Eric S. Lander, Daniel Yuan, Steven A. McCarroll, Michał Matysiak, Vijay G. Sankaran, Monkol Lek, Michael H. Guo, Eva Atsidaftos, Anne H. O’Donnell-Luria, Marie-Françoise O'Donohue, Nathalie Montel-Lehry
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩
Prof. Lander via Courtney Crummett
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩
Prof. Lander via Courtney Crummett
Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 1 in 100,000 to 200,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92b986a5d91a95cc9f563054c8ec96f0
https://hal.archives-ouvertes.fr/hal-02328160
https://hal.archives-ouvertes.fr/hal-02328160
Autor:
Dominika Danda, Marcin W. Wlodarski, Riekelt H. Houtkooper, Ina Hainmann, Marie-Françoise O'Donohue, Victor B Pastor, Charlotte M. Niemeyer, Amina Szvetnik, Thierry Leblanc, Narjesse Karboul, Anna Aspesi, Marc Gastou, Lydie Da Costa, Nahuel A. Paolini, Abed Abu Quider, Alyson W. MacInnes, Pierre-Emmanuel Gleizes, Hannah Tamary, Franca di Summa, Nathalie Montel-Lehry
Publikováno v:
Haematologica, 103(6), 949-958. Ferrata Storti Foundation
Haematologica
Haematologica, Ferrata Storti Foundation, 2018, 103 (6), pp.949-958. ⟨10.3324/haematol.2017.177980⟩
Haematologica
Haematologica, Ferrata Storti Foundation, 2018, 103 (6), pp.949-958. ⟨10.3324/haematol.2017.177980⟩
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. Here the European DBA consortium reports novel mutations identified in the RPL15 gene in 6 unrelated individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5b0c4781067985667cd54f64eee6e46
https://pure.amc.nl/en/publications/recurring-mutations-in-rpl15-are-linked-to-hydrops-fetalis-and-treatment-independence-in-diamondblackfan-anemia(9cf9c4c9-b6ae-4d35-a585-7926591a3fd0).html
https://pure.amc.nl/en/publications/recurring-mutations-in-rpl15-are-linked-to-hydrops-fetalis-and-treatment-independence-in-diamondblackfan-anemia(9cf9c4c9-b6ae-4d35-a585-7926591a3fd0).html
Autor:
Marcin W, Wlodarski, Lydie, Da Costa, Marie-Françoise, O'Donohue, Marc, Gastou, Narjesse, Karboul, Nathalie, Montel-Lehry, Ina, Hainmann, Dominika, Danda, Amina, Szvetnik, Victor, Pastor, Nahuel, Paolini, Franca M, di Summa, Hannah, Tamary, Abed Abu, Quider, Anna, Aspesi, Riekelt H, Houtkooper, Thierry, Leblanc, Charlotte M, Niemeyer, Pierre-Emmanuel, Gleizes, Alyson W, MacInnes
Publikováno v:
Haematologica
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. Here the European DBA consortium reports novel mutations identified in the RPL15 gene in 6 unrelated individuals
Autor:
Christian, Montellese, Nathalie, Montel-Lehry, Anthony K, Henras, Ulrike, Kutay, Pierre-Emmanuel, Gleizes, Marie-Françoise, O'Donohue
Publikováno v:
Nucleic Acids Research
Nucleic Acids Research, Oxford University Press, 2017, 45 (11), pp.6822-6836. ⟨10.1093/nar/gkx253⟩
Nucleic Acids Research, 45 (11)
Nucleic Acids Research, Oxford University Press, 2017, 45 (11), pp.6822-6836. ⟨10.1093/nar/gkx253⟩
Nucleic Acids Research, 45 (11)
The poly-A specific ribonuclease (PARN), initially characterized for its role in mRNA catabolism, supports the processing of different types of non-coding RNAs including telomerase RNA. Mutations in PARN are linked to dyskeratosis congenita and pulmo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e42d8f8c62792ee6dde19cb7b9c53c
https://hal.archives-ouvertes.fr/hal-02327863
https://hal.archives-ouvertes.fr/hal-02327863
Autor:
Christopher Buros, Roxanne Ghazvinian, Marie-Françoise O'Donohue, Bertil Glader, Colin A. Sieff, Michał Matysiak, Michael Landowski, Hanna T. Gazda, Jeffrey M. Lipton, Alan H. Beggs, Edyta Niewiadomska, Eva Atsidaftos, Adrianna Vlachos, Peter E. Newburger, Pierre-Emmanuel Gleizes, Nathalie Montel-Lehry
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2013, 132 (11), pp.1265-1274. ⟨10.1007/s00439-013-1326-z⟩
Human Genetics, Springer Verlag, 2013, 132 (11), pp.1265-1274. ⟨10.1007/s00439-013-1326-z⟩
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocyctic anemia, reticulocytopenia, and nearly absent erythroid progeni
Autor:
Marie-Line Bortolin-Cavaillé, Milena Preti, Valérie Choesmel, Pierre-Emmanuel Gleizes, Nathalie Montel-Lehry, Marie-Françoise O'Donohue
Publikováno v:
Nucleic Acids Research
Nucleic Acids Research, Oxford University Press, 2013, 41 (8), pp.4709-4723. ⟨10.1093/nar/gkt160⟩
Nucleic Acids Research, Oxford University Press, 2013, 41 (8), pp.4709-4723. ⟨10.1093/nar/gkt160⟩
Defects in ribosome biogenesis trigger stress response pathways, which perturb cell proliferation and differentiation in several genetic diseases. In Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia, mutations in ribosomal protein genes