Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Nahuel A. Paolini"'
Autor:
Nahuel A Paolini, Kat S Moore, Franca M di Summa, Ivo F A C Fokkema, Peter A C 't Hoen, Marieke von Lindern
Publikováno v:
PLoS ONE, Vol 13, Iss 4, p e0193790 (2018)
The regulation of translation initiation factor 2 (eIF2) is important for erythroid survival and differentiation. Lack of iron, a critical component of heme and hemoglobin, activates Heme Regulated Inhibitor (HRI). This results in phosphorylation of
Externí odkaz:
https://doaj.org/article/a59e16ce00ad4e449689df39c3c646a2
Autor:
Swaksha Rachuri, Riekelt H. Houtkooper, Roman Fischer, Marcin W. Wlodarski, Franca di Summa, Taco W. Kuijpers, Marieke von Lindern, Matthew E. Cockman, Susan J. Baserga, Jonathan D. Dinman, Martin Attwood, Peter J. Ratcliffe, Alyson W. MacInnes, Nahuel A. Paolini, Joseph Briggs, Pierre-Emmanuel Gleizes, Carolina Marques dos Santos Vieira, Anita M. van Adrichem, Marie-Françoise O'Donohue, Samuel B. Sondalle
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 100 (3), pp.506-522. ⟨10.1016/j.ajhg.2017.01.034⟩
American journal of human genetics, 100(3), 506-522. Cell Press
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 100 (3), pp.506-522. ⟨10.1016/j.ajhg.2017.01.034⟩
American journal of human genetics, 100(3), 506-522. Cell Press
Ribosomal protein (RP) gene mutations, mostly associated with inherited or acquired bone marrow failure, are believed to drive disease by slowing the rate of protein synthesis. Here de novo missense mutations in the RPS23 gene, which codes for uS12,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa037980b76c6bca03a9d4290f5a6685
https://doi.org/10.1016/j.ajhg.2017.01.034
https://doi.org/10.1016/j.ajhg.2017.01.034
Publikováno v:
eLS
Diamond–Blackfan anaemia (DBA) is a congenital disorder that presents in the first year of life as severe anaemia, and in several patients is coupled with developmental defects. DBA is a ribosomopathy because almost all known mutations or deletions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b671097fbedce1434d7754b0c0374f5
https://doi.org/10.1002/9780470015902.a0024471
https://doi.org/10.1002/9780470015902.a0024471
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:
Marieke von Lindern, Nurcan Yagci, Alexander B. Meijer, Rastislav Horos, Ntsiki M. Held, Riekelt H. Houtkooper, Nahuel A. Paolini, Peter A C 't Hoen, Kat S. Moore, Emile van den Akker, Floris P. J. van Alphen
Expression of the RNA-binding protein Csde1 (Cold shock domain protein e1) is strongly upregulated during erythropoiesis compared to other hematopoietic lineages. In the severe congenital anemia Diamond Blackfan Anemia (DBA), however, Csde1 expressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bfed78276e2c38224187ec58b08da2d
https://doi.org/10.1101/203497
https://doi.org/10.1101/203497