Page 56 - Haematologica June
P. 56

958
M.W. Wlodarski et al.
References
1. VlachosA,BallS,DahlN,etal.Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consen- sus conference. Br J Haematol. 2008; 142(6):859-876.
2. Ball SE, McGuckin CP, Jenkins G, Gordon- Smith EC. Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20- year birth cohort. Br J Haematol. 1996;94(4):645-653.
3. Lipton JM, Atsidaftos E, Zyskind I, Vlachos A. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer. 2006;46(5):558-564.
4. Vlachos A, Klein GW, Lipton JM. The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. J Pediatr Hematol Oncol. 2001;23(6):377- 382.
5. Semmekrot BA, Haraldsson A, Weemaes CM, Smeets DF, Geven WB, Brunner HG. Absent thumb, immune disorder, and con- genital anemia presenting with hydrops fetalis. Am J Med Genet. 1992;42(5):736- 740.
6. Van Hook JW, Gill P, Cyr D, Kapur RP. Diamond-Blackfan anemia as an unusual cause of nonimmune hydrops fetalis: a case report. J Reprod Med. 1995;40(12):850-854.
7. McLennan AC, Chitty LS, Rissik J, Maxwell DJ. Prenatal diagnosis of Blackfan- Diamond syndrome: case report and review of the literature. Prenat Diagn. 1996;16(4):349-353.
8. Rogers BB, Bloom SL, Buchanan GR. Autosomal dominantly inherited Diamond-Blackfan anemia resulting in nonimmune hydrops. Obstet Gynecol. 1997;89(5 Pt 2):805-807.
9. Scimeca PG, Weinblatt ME, Slepowitz G, Harper RG, Kochen JA. Diamond-Blackfan syndrome: an unusual cause of hydrops fetalis. Am J Pediatr Hematol Oncol. 1988 Fall;10(3):241-243.
10. Dunbar AE, 3rd, Moore SL, Hinson RM. Fetal Diamond-Blackfan anemia associated with hydrops fetalis. Am J Perinatol. 2003;20(7):391-394.
11. Saladi SM, Chattopadhyay T, Adiotomre PN. Nomimmune hydrops fetalis due to Diamond-Blackfan anemia. Indian Pediatr. 2004;41(2):187-188.
12. Valsky DV, Daum H, Yagel S. Reversal of mirror syndrome after prenatal treatment of Diamond-Blackfan anemia. Prenat Diagn. 2007;27(12):1161-1164.
13. DaCostaL,Chanoz-PoulardG,Simansour M, et al. First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. Am J Hematol. 2013;88(4):340-341.
14. BoriaI,GarelliE,GazdaHT,etal.Theribo- somal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat. 2010;31(12):1269-1279.
15. Ban N, Beckmann R, Cate JH, et al. A new system for naming ribosomal proteins. Curr Opin Struct Biol. 2014;24:165-169.
16. CmejlaR,CmejlovaJ,HandrkovaH,Petrak J, Pospisilova D. Ribosomal protein S17 gene (RPS17) is mutated in Diamond- Blackfan anemia. Hum Mutat. 2007; 28(12):1178-1182.
17. Doherty L, Sheen MR, Vlachos A, et al. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-
Blackfan anemia. Am J Hum Genet. 2010;
86(2):222-228.
18. Draptchinskaia N, Gustavsson P,
Andersson B, et al. The gene encoding ribo- somal protein S19 is mutated in Diamond- Blackfan anaemia. Nat Genet. 1999;21(2):169-175.
19. Farrar JE, Nater M, Caywood E, et al. Abnormalities of the large ribosomal sub- unit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008;112(5):1582-1592.
20. Gazda HT, Grabowska A, Merida-Long LB, et al. Ribosomal protein S24 gene is mutat- ed in Diamond-Blackfan anemia. Am J Hum Genet. 2006;79(6):1110-1118.
21. Gazda HT, Preti M, Sheen MR, et al. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-black- fan anemia. Hum Mutat. 2012;33(7):1037- 1044.
22. Gazda HT, Sheen MR, Vlachos A, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnor- mal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008;83(6):769- 780.
23. Landowski M, O'Donohue MF, Buros C, et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013;132(11):1265-1274.
24. Wang R, Yoshida K, Toki T, et al. Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. Br J Haematol. 2015;168(6):854-864.
25. Mirabello L, Macari ER, Jessop L, et al. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood. 2014;124(1):24-32.
26. Gripp KW, Curry C, Olney AH, et al. Diamond-Blackfan anemia with mandibulofacial dystostosis is heteroge- neous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A. 2014;164A(9):2240-2249.
27. Ikeda F, Yoshida K, Toki T, et al. Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan ane- mia. Haematologica. 2017;102(3):e93-e96.
28. Mirabello L, Khincha PP, Ellis SR, et al. Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic character- isation. J Med Genet. 2017;54(6):417-425.
29. Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 muta- tions resulting in Diamond-Blackfan ane- mia. J Clin Invest. 2012;122(7):2439-2443.
30. Choesmel V, Bacqueville D, Rouquette J, et al. Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood. 2007;109(3):1275-1283.
31. Ferreira-Cerca S, Poll G, Gleizes PE, Tschochner H, Milkereit P. Roles of eukary- otic ribosomal proteins in maturation and transport of pre-18S rRNA and ribosome function. Mol Cell. 2005;20(2):263-275.
32. Golomb L, Volarevic S, Oren M. p53 and ribosome biogenesis stress: the essentials. FEBS Lett. 2014;588(16):2571-2579.
human erythroid progenitor cells. Blood.
2011;117(9):2567-2576.
35. 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(23):6087-6096.
36. Moniz H, Gastou M, Leblanc T, et al. Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phe- notype in vitro. Cell Death Dis. 2012; 3:e356.
37. Pereboom TC, Bondt A, Pallaki P, et al. Translation of branched-chain aminotrans- ferase-1 transcripts is impaired in cells hap- loinsufficient for ribosomal protein genes. Exp Hematol. 2014;42(5):394-403.e4.
38. Heijnen HF, van Wijk R, Pereboom TC, et al. Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway. PLoS Genet. 2014; 10(5):e1004371.
39. Vlachos A, Muir E. How I treat Diamond- Blackfan anemia. Blood. 2010;116(19): 3715-3723.
40. Narla A, Vlachos A, Nathan DG. Diamond Blackfan anemia treatment: past, present, and future. Semin Hematol. 2011; 48(2):117-123.
41. Peffault de Latour R, Peters C, Gibson B, et al. Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. Bone Marrow Transplant. 2015;50(9):1168-1172.
42. Hui-Yuen J, McAllister S, Koganti S, Hill E, Bhaduri-McIntosh S. Establishment of Epstein-Barr virus growth-transformed lymphoblastoid cell lines. J Vis Exp. 2011;(57).
43. Hirabayashi S, Flotho C, Moetter J, et al. Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in child- hood MDS and JMML. Blood. 2012; 119(11):e96-99.
44. Hu J, Liu J, Xue F, et al. Isolation and func- tional characterization of human erythrob- lasts at distinct stages: implications for understanding of normal and disordered erythropoiesis in vivo. Blood. 2013; 121(16):3246-3253.
45. Da Costa L, O'Donohue MF, van Dooijeweert B, et al. Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. Eur J Med Genet. 2017 Oct 26. [Epub ahead of print]
46. Lo Ten Foe JR, Kwee ML, Rooimans MA, et al. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet. 1997;5(3):137-148.
47. Henras AK, Plisson-Chastang C, O'Donohue MF, Chakraborty A, Gleizes PE. An overview of pre-ribosomal RNA processing in eukaryotes. Wiley Interdiscip Rev RNA. 2015;6(2):225-242.
48. Preti M, O'Donohue MF, Montel-Lehry N, Bortolin-Cavaille ML, Choesmel V, Gleizes PE. Gradual processing of the ITS1 from the nucleolus to the cytoplasm during syn- thesis of the human 18S rRNA. Nucleic Acids Res. 2013;41(8):4709-4723.
49. Ludwig LS, Gazda HT, Eng JC, et al. Altered translation of GATA1 in Diamond- Blackfan anemia. Nat Med. 2014;20(7):748-
33. Kastan MB, Onyekwere O, Sidransky D,
Vogelstein B, Craig RW. Participation of 753.
p53 protein in the cellular response to DNA damage. Cancer Res. 1991;51(23 Pt 1):6304- 6311.
34. Dutt S, Narla A, Lin K, et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in
50. Horos R, Ijspeert H, Pospisilova D, et al. Ribosomal deficiencies in Diamond- Blackfan anemia impair translation of tran- scripts essential for differentiation of murine and human erythroblasts. Blood. 2012;119(1):262-272.
haematologica | 2018; 103(6)


































































































   54   55   56   57   58