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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ, Mäkitie O. Costantini A, et al. Among authors: warren aj. J Bone Miner Res. 2021 Feb;36(2):283-297. doi: 10.1002/jbmr.4177. Epub 2020 Oct 13. J Bone Miner Res. 2021. PMID: 32916022 Free PMC article.
eIF6 rebinding dynamically couples ribosome maturation and translation.
Jaako P, Faille A, Tan S, Wong CC, Escudero-Urquijo N, Castro-Hartmann P, Wright P, Hilcenko C, Adams DJ, Warren AJ. Jaako P, et al. Among authors: warren aj. Nat Commun. 2022 Mar 23;13(1):1562. doi: 10.1038/s41467-022-29214-7. Nat Commun. 2022. PMID: 35322020 Free PMC article.
New insights into 5q- syndrome as a ribosomopathy.
Barlow JL, Drynan LF, Trim NL, Erber WN, Warren AJ, McKenzie AN. Barlow JL, et al. Among authors: warren aj. Cell Cycle. 2010 Nov 1;9(21):4286-93. doi: 10.4161/cc.9.21.13742. Epub 2010 Nov 22. Cell Cycle. 2010. PMID: 20980806 Review.
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan S, Kermasson L, Hoslin A, Jaako P, Faille A, Acevedo-Arozena A, Lengline E, Ranta D, Poirée M, Fenneteau O, Ducou le Pointe H, Fumagalli S, Beaupain B, Nitschké P, Bôle-Feysot C, de Villartay JP, Bellanné-Chantelot C, Donadieu J, Kannengiesser C, Warren AJ, Revy P. Tan S, et al. Among authors: warren aj. Blood. 2019 Jul 18;134(3):277-290. doi: 10.1182/blood.2018893404. Epub 2019 May 31. Blood. 2019. PMID: 31151987 Free PMC article.
Somatic genetic rescue of a germline ribosome assembly defect.
Tan S, Kermasson L, Hilcenko C, Kargas V, Traynor D, Boukerrou AZ, Escudero-Urquijo N, Faille A, Bertrand A, Rossmann M, Goyenechea B, Jin L, Moreil J, Alibeu O, Beaupain B, Bôle-Feysot C, Fumagalli S, Kaltenbach S, Martignoles JA, Masson C, Nitschké P, Parisot M, Pouliet A, Radford-Weiss I, Tores F, de Villartay JP, Zarhrate M, Koh AL, Phua KB, Reversade B, Bond PJ, Bellanné-Chantelot C, Callebaut I, Delhommeau F, Donadieu J, Warren AJ, Revy P. Tan S, et al. Among authors: warren aj. Nat Commun. 2021 Aug 19;12(1):5044. doi: 10.1038/s41467-021-24999-5. Nat Commun. 2021. PMID: 34413298 Free PMC article.
Convergent somatic evolution commences in utero in a germline ribosomopathy.
Machado HE, Øbro NF, Williams N, Tan S, Boukerrou AZ, Davies M, Belmonte M, Mitchell E, Baxter EJ, Mende N, Clay A, Ancliff P, Köglmeier J, Killick SB, Kulasekararaj A, Meyer S, Laurenti E, Campbell PJ, Kent DG, Nangalia J, Warren AJ. Machado HE, et al. Among authors: warren aj. Nat Commun. 2023 Aug 22;14(1):5092. doi: 10.1038/s41467-023-40896-5. Nat Commun. 2023. PMID: 37608017 Free PMC article.
The Ribosome Biogenesis Protein Nol9 Is Essential for Definitive Hematopoiesis and Pancreas Morphogenesis in Zebrafish.
Bielczyk-Maczyńska E, Lam Hung L, Ferreira L, Fleischmann T, Weis F, Fernández-Pevida A, Harvey SA, Wali N, Warren AJ, Barroso I, Stemple DL, Cvejic A. Bielczyk-Maczyńska E, et al. Among authors: warren aj. PLoS Genet. 2015 Dec 1;11(12):e1005677. doi: 10.1371/journal.pgen.1005677. eCollection 2015 Dec. PLoS Genet. 2015. PMID: 26624285 Free PMC article.
Defective ribosome assembly in Shwachman-Diamond syndrome.
Wong CC, Traynor D, Basse N, Kay RR, Warren AJ. Wong CC, et al. Among authors: warren aj. Blood. 2011 Oct 20;118(16):4305-12. doi: 10.1182/blood-2011-06-353938. Epub 2011 Jul 29. Blood. 2011. PMID: 21803848 Free article.
124 results