Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy-Reference-Cited by-同舟云学术

Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy

Published:2017-09-20 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Aspesi Anna^ORCID,Monteleone Valentina,Betti Marta,Actis Chiara,Morleo Giulia,Sculco Marika,Guarrera Simonetta^ORCID,Wlodarski Marcin W.,Ramenghi Ugo,Santoro Claudio^ORCID,Ellis Steven R.,Loreni Fabrizio^ORCID,Follenzi Antonia,Dianzani Irma

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-12307-5.pdf

Reference37 articles.

1. Vlachos, A., Dahl, N., Dianzani, I. & Lipton, J. M. Clinical utility gene card for: Diamond-Blackfan anemia–update 2013. Eur. J. Hum. Genet. 21 (2013).

2. Vlachos, A. et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br. J. Haematol. 142, 859–76 (2008).

3. Vlachos, A., Rosenberg, P. S., Atsidaftos, E., Alter, B. P. & Lipton, J. M. Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood 119, 3815–9 (2012).

4. Draptchinskaia, N. et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat. Genet. 21, 169–75 (1999).

5. Gazda, H. T. et al. Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia. Am. J. Hum. Genet. 79, 1110–1118 (2006).

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