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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT. Doherty L, et al. Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28. Am J Hum Genet. 2010. PMID: 20116044 Free PMC article.
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Gazda HT, et al. Among authors: doherty l. Hum Mutat. 2012 Jul;33(7):1037-44. doi: 10.1002/humu.22081. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22431104 Free PMC article.
A prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
NIHR Global Health Research Unit on Global Surgery; STARSurg Collaborative. NIHR Global Health Research Unit on Global Surgery, et al. Lancet Digit Health. 2024 Jul;6(7):e507-e519. doi: 10.1016/S2589-7500(24)00065-7. Lancet Digit Health. 2024. PMID: 38906616 Free article.
Effectiveness of the Walking in ScHools (WISH) Study, a peer-led walking intervention for adolescent girls: results of a cluster randomised controlled trial.
Murphy MH, O'Kane SM, Carlin A, Lahart IM, Doherty LC, Jago R, McDermott G, Faulkner M, Gallagher AM. Murphy MH, et al. Among authors: doherty lc. Int J Behav Nutr Phys Act. 2024 Feb 19;21(1):19. doi: 10.1186/s12966-024-01563-0. Int J Behav Nutr Phys Act. 2024. PMID: 38374037 Free PMC article. Clinical Trial.
257 results