|
1) Da Costa L, Willig TN, Fixler J, et al. Diamond-Blackfan anemia. Curr Opin Pediatr. 2001; 13: 10-5
|
|
|
|
2) Josephs HW. Anaemia of infancy and early childhood. Medicine. 1936; 15: 307
|
|
|
|
|
|
3) Diamond LK, Blackfan KD. Hypoplastic anemia. Am J Dis Child. 1938; 56: 464-67
|
|
|
|
|
|
4) Draptchinskaia N, Gustavsson P, Andersson B, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999; 21: 169-75
|
|
|
|
|
|
5) 剣持直哉. リボソームと疾患. 実験医学. 2004; 22: 200-5
|
|
|
|
|
|
6) Gustavsson P, Skeppner G, Johansson B, et al. Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X; 19 translocation. J Med Genet. 1997; 34: 779-82
|
|
|
|
|
|
7) Gustavsson P, Willing TN, van Haeringen A, et al. Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1. 8 Mb. Nat Genet. 1997; 16: 368-71
|
|
|
|
|
|
8) Gustavsson P, Garelli E, Draptchinskaia N, et al. Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. Am J Hum Genet. 1998; 63: 1388-95
|
|
|
|
|
|
9) Willig TN, Draptchinskaia N, Dianzani I, et al. Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression. Blood. 1999; 94: 4294- 306
|
|
|
|
|
|
10) Ramenghi U, Garelli E, Valtolina S, et al. Diamond-Blackfan anaemia in the Italian population. Br J Haematol. 1999; 104: 841-8
|
|
|
|
|
|
11) Campagnoli MF, Garelli E, Quarello P, et al. Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica. 2004; 89: 480-9
|
|
|
|
|
|
12) Gazda HT, Grabowska A, Merida-Long LB, et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2006; 79: 1110-8
|
|
|
|
|
|
13) Cmejla R, Cmejlova J, Handrkova H, et al. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum Mutat. 2007; [Epub ahead of print]
|
|
|
|
|
|
14) Nissen P, Hansen J, Ban N, et al. The structural basis of ribosome activity in peptide bond synthesis. Science. 2000; 289: 920-30
|
|
|
|
|
|
15) Da Costa L, Tchernia G, Gascard P, et al. 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. 2003; 101: 5039-45
|
|
|
|
|
|
16) Leger-Silvestre I, Caffrey JM, Dawaliby R, et al. Specific role for yeast homologs of the Diamond Blackfan anemia-associated Rps19 protein in ribosome synthesis. J Biol Chem. 2005; 280: 38177-85
|
|
|
|
|
|
17) Choesmel V, Bacqueville D, Rouquette J, et al. Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood. 2007; 109: 1275-83
|
|
|
|
|
|
18) Flygare J, Aspesi A, Bailey JC, et al. Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood. 2007; 109: 980-6
|
|
|
|
|
|
19) Ohene-Abuakwa Y, Orfali KA, Marius C, et al. Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect. Blood. 2005; 105: 838-46. Epub 2004 Jul 6
|
|
|
|
|
|
20) Da Costa L, Narla G, Willig TN, et al. Ribosomal protein S19 expression during erythroid differentiation. Blood. 2003; 101: 318-24
|
|
|
|
|
|
21) Flygare J, Karlsson S. Diamond-Blackfan anemia: erythropoiesis lost in translation. Blood. 2007; 109: 3152-60
|
|
|
|
|
|
22) Vladimirov SN, Ivanov AV, Karpova GG, et al. Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry. Eur J Biochem. 1996; 239: 144-9
|
|
|
|
|
|
23) Laird PW, van der Lugt NM, Clarke A, et al. In vivo analysis of Pim-1 deficiency. Nucleic Acids Res. 1993; 21: 4750-5
|
|
|
|
|
|
24) Chiocchetti A, Gibello L, Carando A, et al. Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein. Haematologica. 2005; 90: 1453-62
|
|
|
|
|
|
25) Revollo I, Nishiura H, Shibuya Y, et al. Agonist and antagonist dual effect of the cross-linked S19 ribosomal protein dimer in the C5a receptor-mediated respiratory burst reaction of phagocytic leukocytes. Inflamm Res. 2005; 54: 82-90
|
|
|
|
|
|
26) Liu JM, Ellis SR. Ribosomes and marrow failure: coincidental association or molecular paradigm？ Blood. 2006; 107: 4583-8
|
|
|
|
|
|
27) Austin KM, Leary RJ, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood. 2005; 106: 1253-8
|
|
|
|
|
|
28) Ganapathi KA, Austin KM, Lee CS, et al. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood. 2007; [Epub ahead of print]
|
|
|
|
|