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A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Am J Hum Genet. 2017 Mar 2;100(3):506-522. doi: 10.1016/j.ajhg.2017.01.034.
Am J Hum Genet. 2017.
PMID: 28257692
Free PMC article.
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW.
Wlodarski MW, et al.
Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29.
Haematologica. 2018.
PMID: 29599205
Free PMC article.
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Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors.
Paolini NA, Moore KS, di Summa FM, Fokkema IFAC, 't Hoen PAC, von Lindern M.
Paolini NA, et al.
PLoS One. 2018 Apr 10;13(4):e0193790. doi: 10.1371/journal.pone.0193790. eCollection 2018.
PLoS One. 2018.
PMID: 29634759
Free PMC article.
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Distinct PKC-mediated posttranscriptional events set cytokine production kinetics in CD8+ T cells.
Salerno F, Paolini NA, Stark R, von Lindern M, Wolkers MC.
Salerno F, et al. Among authors: paolini na.
Proc Natl Acad Sci U S A. 2017 Sep 5;114(36):9677-9682. doi: 10.1073/pnas.1704227114. Epub 2017 Aug 23.
Proc Natl Acad Sci U S A. 2017.
PMID: 28835535
Free PMC article.
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Csde1 binds transcripts involved in protein homeostasis and controls their expression in an erythroid cell line.
Moore KS, Yagci N, van Alphen F, Paolini NA, Horos R, Held NM, Houtkooper RH, van den Akker E, Meijer AB, 't Hoen PAC, von Lindern M.
Moore KS, et al. Among authors: paolini na.
Sci Rep. 2018 Feb 8;8(1):2628. doi: 10.1038/s41598-018-20518-7.
Sci Rep. 2018.
PMID: 29422612
Free PMC article.
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