References
  1. Engidaye G, Melku M, Enawgaw B. Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment. EJIFCC. 2019 Mar 1;30(1):67-81.
  2. Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Haematologica. 2010 Feb;95(2):206-13.
  3. Gazda HT, Sheen MR, Vlachos A, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008 Dec;83(6):769-780.
  4. Vlachos A, Muir E. How I treat Diamond-Blackfan anemia. Blood. 2010 Nov 11;116(19):3715-23.
  5. Niemeyer CM, Kratz CP. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options. Br J Haematol. 2008 Mar;140(6):610-24.
  6. Strahm B, Nöllke P, Zecca M, Korthof ET, Bierings M, Furlan I, Sedlacek P, Chybicka A, Schmugge M, Bordon V, Peters C, O’Marcaigh A, de Heredia CD, Bergstraesser E, Moerloose BD, van den Heuvel-Eibrink MM, Starý J, Trebo M, Wojcik D, Niemeyer CM, Locatelli F; EWOG-MDS study group. Hematopoietic stem cell transplantation for advanced myelodysplastic syndrome in children: results of the EWOG-MDS 98 study. Leukemia. 2011 Mar;25(3):455-62.
  7. Leak S, Harrington Y, de la Fuente J. RPL5 and RPL11 Diamond Blackfan Anaemia Patients Have An Increased Number Of Hypolabated and Non-Lobulated Megakaryocytes In The Bone Marrow. Blood. 2013; 122 (21): 1229.
  8. Kang J, Brajanovski N, Chan KT, Xuan J, Pearson RB, Sanij E. Ribosomal proteins and human diseases: molecular mechanisms and targeted therapy. Signal Transduct Target Ther. 2021 Aug 30;6(1):323.
  9. Schneider RK, Schenone M, Ferreira MV, Kramann R, Joyce CE, Hartigan C, Beier F, Brümmendorf TH, Germing U, Platzbecker U, Büsche G, Knüchel R, Chen MC, Waters CS, Chen E, Chu LP, Novina CD, Lindsley RC, Carr SA, Ebert BL. Rps14 haploinsufficiency causes a block in erythroid differentiation mediated by S100A8 and S100A9. Nat Med. 2016 Mar;22(3):288-97.
  10. Dai MS, Lu H. Inhibition of MDM2-mediated p53 ubiquitination and degradation by ribosomal protein L5. J Biol Chem. 2004 Oct 22;279(43):44475-82.
  11. Dai MS, Zeng SX, Jin Y, Sun XX, David L, Lu H. Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition. Mol Cell Biol. 2004 Sep;24(17):7654-68.
  12. Bhat KP, Itahana K, Jin A, Zhang Y. Essential role of ribosomal protein L11 in mediating growth inhibition-induced p53 activation. EMBO J. 2004 Jun 16;23(12):2402-12.