|
1）Da Costa L, Willig TN, Fixler J, et al. Diamond-Blackfan anemia. Curr Opin Pediatr. 2001; 13: 10-5
|
|
|
|
2）Vlachos A, Rosenberg PS, Atsidaftos E, et al. Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood. 2012; 119: 3815-9
|
|
|
|
|
|
3）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
|
|
|
|
|
|
4）Gazda HT, Preti M, Sheen MR, et al. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnoromalities and a specific pre-rRNA processing defect in Diamond-Blackfan anemia. Hum Mutat. 2012; 33: 1037-44
|
|
|
|
|
|
5）Farrar JE, Vlachos A, Atsidaftos E, et al. Ribosomal protein gene deletion in Diamond-Blackfan anemia. Blood. 2011; 118: 6943-51
|
|
|
|
|
|
6）Kuramitsu M, Sato-Otsubo A, Morino T, et al. Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood. 2012; 119: 2376-84
|
|
|
|
|
|
7）Gazda HT, Preti M, Sheen MR, 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; 83: 769-80
|
|
|
|
|
|
8）Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012; 122: 2439-43
|
|
|
|
|
|
9）Chakraborty A, Uechi T, Kenmochi N. Guarding the ʻtranslation apparatusʼ: defective ribosome biogenesis and the p53 signaling pathway. WIRES RNA. 2011; 2: 507-22
|
|
|
|
|
|
10）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
|
|
|
|
|
|
11）Zhang Y, Lu H. Signaling to p53: ribosomal proteins find their way. Cancer Cell. 2009; 16: 369-77
|
|
|
|
|
|
12）Weiss MJ, Mason PJ, Bessler M. Whatʼs in a name? J Clin Invest. 2012; 122: 2346-9
|
|
|
|
|
|
13）Uechi T, Nakajima Y, Nakao A, et al. Ribosomal protein gene knockdown causes developmental defects in zebrafish. PLoS One. 2006; 1: e37
|
|
|
|
|
|
14）Dutt S, Nahla A, Lin K, et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood. 2011; 117: 2567-76
|
|
|
|
|
|
15）Cmejlova J, Dolezalova L, Pospisilova D, et al. Translational efficacy in patients with Diamond-Blackfan anemia. Haematologica. 2006; 91: 1456-64
|
|
|
|
|
|
16）Jaako P, Flygare J, Olsson K, et al. Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia. Blood. 2011; 118: 6087-96
|
|
|
|
|
|
17）Torihara H, Uechi T, Chakraborty A, et al. Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia. Br J Haematol. 2011; 152: 648-54
|
|
|
|
|
|
18）Lai K, Amsterdam A, Farrington S, et al. Many ribosomal protein mutations are associated with growth impairment and tumor predisposition in zebrafish. Dev Dyn. 2009; 238: 76-85
|
|
|
|
|