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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 2
2011 3
2013 2
2014 5
2015 3
2016 1
2017 3
2018 4
2019 3
2020 4
2022 2
2024 0

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28 results

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Page 1
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
O'Donohue MF, 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 SD, Platon J, Montel-Lehry N, Laugero N, Lacazette E, van Gassen K, Houtkooper RH, Simsek-Kiper PO, Leblanc T, Yarali N, Cetinkaya A, Akarsu NA, Gleizes PE, Lafontaine DLJ, MacInnes AW. O'Donohue MF, et al. Among authors: macinnes aw. Blood. 2022 May 26;139(21):3111-3126. doi: 10.1182/blood.2021011846. Blood. 2022. PMID: 35213692 Free PMC article.
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW. Da Costa L, et al. Among authors: macinnes aw. Eur J Med Genet. 2018 Nov;61(11):664-673. doi: 10.1016/j.ejmg.2017.10.017. Epub 2017 Oct 26. Eur J Med Genet. 2018. PMID: 29081386 Free article. Review.
Reduced ech-6 expression attenuates fat-induced lifespan shortening in C. elegans.
Liu YJ, Gao AW, Smith RL, Janssens GE, Panneman DM, Jongejan A, van Weeghel M, Vaz FM, Silvestrini MJ, Lapierre LR, MacInnes AW, Houtkooper RH. Liu YJ, et al. Among authors: macinnes aw. Sci Rep. 2022 Mar 1;12(1):3350. doi: 10.1038/s41598-022-07397-9. Sci Rep. 2022. PMID: 35233004 Free PMC article.
A Conserved Mito-Cytosolic Translational Balance Links Two Longevity Pathways.
Molenaars M, Janssens GE, Williams EG, Jongejan A, Lan J, Rabot S, Joly F, Moerland PD, Schomakers BV, Lezzerini M, Liu YJ, McCormick MA, Kennedy BK, van Weeghel M, van Kampen AHC, Aebersold R, MacInnes AW, Houtkooper RH. Molenaars M, et al. Among authors: macinnes aw. Cell Metab. 2020 Mar 3;31(3):549-563.e7. doi: 10.1016/j.cmet.2020.01.011. Epub 2020 Feb 20. Cell Metab. 2020. PMID: 32084377 Free PMC article.
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Lezzerini M, Penzo M, O'Donohue MF, Marques Dos Santos Vieira C, Saby M, Elfrink HL, Diets IJ, Hesse AM, Couté Y, Gastou M, Nin-Velez A, Nikkels PGJ, Olson AN, Zonneveld-Huijssoon E, Jongmans MCJ, Zhang G, van Weeghel M, Houtkooper RH, Wlodarski MW, Kuiper RP, Bierings MB, van der Werff Ten Bosch J, Leblanc T, Montanaro L, Dinman JD, Da Costa L, Gleizes PE, MacInnes AW. Lezzerini M, et al. Among authors: macinnes aw. Nucleic Acids Res. 2020 Jan 24;48(2):770-787. doi: 10.1093/nar/gkz1042. Nucleic Acids Res. 2020. PMID: 31799629 Free PMC article.
Driver mutations of the adenoma-carcinoma sequence govern the intestinal epithelial global translational capacity.
Smit WL, Spaan CN, Johannes de Boer R, Ramesh P, Martins Garcia T, Meijer BJ, Vermeulen JLM, Lezzerini M, MacInnes AW, Koster J, Medema JP, van den Brink GR, Muncan V, Heijmans J. Smit WL, et al. Among authors: macinnes aw. Proc Natl Acad Sci U S A. 2020 Oct 13;117(41):25560-25570. doi: 10.1073/pnas.1912772117. Epub 2020 Sep 28. Proc Natl Acad Sci U S A. 2020. PMID: 32989144 Free PMC article.
28 results