Diamond-Blackfan anemia, Current Opinion in Pediatrics, vol.13, issue.1, pp.10-15, 2001. ,
DOI : 10.1097/00008480-200102000-00002
URL : https://hal.archives-ouvertes.fr/hal-00308965
Diamond-Blackfan anemia, Current Opinion in Hematology, vol.7, issue.2, pp.85-94, 2000. ,
DOI : 10.1097/00062752-200003000-00003
Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity, The American Journal of Human Genetics, vol.63, issue.5, pp.1388-1395, 1998. ,
DOI : 10.1086/302100
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia, Nat. Genet, vol.21, pp.169-175, 1999. ,
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis, Journal of Biological Chemistry, vol.280, issue.46, pp.38177-38185, 2005. ,
DOI : 10.1074/jbc.M506916200
URL : https://hal.archives-ouvertes.fr/hal-00022332
Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation, Molecular and Cellular Biology, vol.24, issue.9, pp.4032-4037, 2004. ,
DOI : 10.1128/MCB.24.9.4032-4037.2004
Impaired ribosome biogenesis in Diamond-Blackfan anemia, Blood, vol.109, issue.3, pp.1275-1283, 2007. ,
DOI : 10.1182/blood-2006-07-038372
URL : https://hal.archives-ouvertes.fr/hal-00308965
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits, Blood, vol.109, issue.3, pp.980-986, 2007. ,
DOI : 10.1182/blood-2006-07-038232
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production, Blood Cells, Molecules, and Diseases, vol.39, issue.1, pp.35-43, 2007. ,
DOI : 10.1016/j.bcmd.2007.02.001
Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia, The American Journal of Human Genetics, vol.79, issue.6, pp.1110-1118, 2006. ,
DOI : 10.1086/510020
Diamond Blackfan anemia: A paradigm for a ribosome-based disease, Medical Hypotheses, vol.66, issue.3, pp.643-648, 2006. ,
DOI : 10.1016/j.mehy.2005.09.010
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature, Haematologica, vol.89, pp.480-489, 2004. ,
Recent insights into the pathogenesis of Diamond?Blackfan anaemia, British Journal of Haematology, vol.90, issue.1, pp.149-157, 1993. ,
DOI : 10.1128/MCB.23.23.8902-8912.2003
[27] Maximum-likelihood heavy-atom parameter refinement for multiple isomorphous replacement and multiwavelength anomalous diffraction methods, Methods Enzymol, vol.472, pp.472-494, 1997. ,
DOI : 10.1016/S0076-6879(97)76073-7
: model-building tools for molecular graphics, Acta Crystallographica Section D Biological Crystallography, vol.60, issue.12, pp.2126-2132, 2004. ,
DOI : 10.1107/S0907444904019158
Use of TLS parameters to model anisotropic displacements in macromolecular refinement, Acta Crystallographica Section D Biological Crystallography, vol.57, issue.1, pp.122-133, 2001. ,
DOI : 10.1107/S0907444900014736
Naf1p, an Essential Nucleoplasmic Factor Specifically Required for Accumulation of Box H/ACA Small Nucleolar RNPs, Molecular and Cellular Biology, vol.22, issue.20, pp.7053-7065, 2002. ,
DOI : 10.1128/MCB.22.20.7053-7065.2002
The ribosomal protein Rps15p is required for nuclear exit of the 40S subunit precursors in yeast, The EMBO Journal, vol.59, issue.12, pp.2336-2347, 2004. ,
DOI : 10.1038/35030006
URL : https://hal.archives-ouvertes.fr/hal-00022401
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology, Blood, vol.101, issue.>12, pp.5039-5045, 2003. ,
DOI : 10.1182/blood-2002-12-3878
Translational efficiency in patients with Diamond-Blackfan anemia, Haematologica, vol.91, pp.1456-1464, 2006. ,
Missense mutations associated to Diamond-Blackfan Anemia affect the assembly of ribosomal protein S19 into the ribosome Sensing cellular stress: another new function for the nucleolus, Hum. Mol. Genet., in press. 26. Olson, M.O. Sci STKE, p.10, 2004. ,
Evidence of p53-Dependent Cross-Talk between Ribosome Biogenesis and the Cell Cycle: Effects of Nucleolar Protein Bop1 on G1/S Transition, Molecular and Cellular Biology, vol.21, issue.13, pp.4246-4255, 2001. ,
DOI : 10.1128/MCB.21.13.4246-4255.2001
p53 is a chromatin accessibility factor for nucleotide excision repair of DNA damage, The EMBO Journal, vol.22, issue.4, pp.975-986, 2003. ,
DOI : 10.1093/emboj/cdg082