Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia-Reference-Cited by-同舟云学术

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Published:2015-03-25 Issue:5 Volume:47 Page:535-538
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Noetzli Leila,Lo Richard W,Lee-Sherick Alisa B,Callaghan Michael,Noris Patrizia,Savoia Anna,Rajpurkar Madhvi,Jones Kenneth,Gowan Katherine,Balduini Carlo L,Pecci Alessandro,Gnan Chiara,De Rocco Daniela,Doubek Michael,Li Ling,Lu Lily,Leung Richard,Landolt-Marticorena Carolina,Hunger Stephen,Heller Paula,Gutierrez-Hartmann Arthur,Xiayuan Liang,Pluthero Fred G,Rowley Jesse W,Weyrich Andrew S,Kahr Walter H A,Porter Christopher C,Di Paola Jorge

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3253.pdf

Reference37 articles.

1. Song, W.J. et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat. Genet. 23, 166–175 (1999).

2. Nichols, K.E. et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat. Genet. 24, 266–270 (2000).

3. Kar, A. & Gutierrez-Hartmann, A. Molecular mechanisms of ETS transcription factor–mediated tumorigenesis. Crit. Rev. Biochem. Mol. Biol. 48, 522–543 (2013).

4. Romana, S.P. et al. Deletion of the short arm of chromosome 12 is a secondary event in acute lymphoblastic leukemia with t(12;21). Leukemia 10, 167–170 (1996).

5. Patel, N. et al. Expression profile of wild-type ETV6 in childhood acute leukaemia. Br. J. Haematol. 122, 94–98 (2003).

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