{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T14:18:30Z","timestamp":1792592310428,"version":"4.5.0"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2014,6,22]],"date-time":"2014-06-22T00:00:00Z","timestamp":1403395200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Med"],"published-print":{"date-parts":[[2014,7]]},"DOI":"10.1038\/nm.3557","type":"journal-article","created":{"date-parts":[[2014,6,22]],"date-time":"2014-06-22T14:25:58Z","timestamp":1403447158000},"page":"748-753","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":309,"title":["Altered translation of GATA1 in Diamond-Blackfan anemia"],"prefix":"10.1038","volume":"20","author":[{"given":"Leif S","family":"Ludwig","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna T","family":"Gazda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer C","family":"Eng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen W","family":"Eichhorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prathapan","family":"Thiru","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxanne","family":"Ghazvinian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy I","family":"George","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason R","family":"Gotlib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8818-0568","authenticated-orcid":false,"given":"Alan H","family":"Beggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin A","family":"Sieff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harvey F","family":"Lodish","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric S","family":"Lander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijay G","family":"Sankaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,6,22]]},"reference":[{"key":"BFnm3557_CR1","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1002\/humu.22081","volume":"33","author":"HT Gazda","year":"2012","unstructured":"Gazda, H.T. et al. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum. Mutat. 33, 1037\u20131044 (2012).","journal-title":"Hum. Mutat."},{"key":"BFnm3557_CR2","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1016\/j.hoc.2009.01.004","volume":"23","author":"JM Lipton","year":"2009","unstructured":"Lipton, J.M. & Ellis, S.R. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol. Oncol. Clin. North Am. 23, 261\u2013282 (2009).","journal-title":"Hematol. Oncol. Clin. North Am."},{"key":"BFnm3557_CR3","doi-asserted-by":"publisher","first-page":"976","DOI":"10.1126\/science.1234864","volume":"340","author":"A Bolze","year":"2013","unstructured":"Bolze, A. et al. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science 340, 976\u2013978 (2013).","journal-title":"Science"},{"key":"BFnm3557_CR4","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1038\/ng.2508","volume":"45","author":"K De Keersmaecker","year":"2013","unstructured":"De Keersmaecker, K. et al. Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia. Nat. Genet. 45, 186\u2013190 (2013).","journal-title":"Nat. Genet."},{"key":"BFnm3557_CR5","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1038\/nrm3359","volume":"13","author":"S Xue","year":"2012","unstructured":"Xue, S. & Barna, M. Specialized ribosomes: a new frontier in gene regulation and organismal biology. Nat. Rev. Mol. Cell Biol. 13, 355\u2013369 (2012).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"BFnm3557_CR6","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1172\/JCI108960","volume":"61","author":"DG Nathan","year":"1978","unstructured":"Nathan, D.G., Clarke, B.J., Hillman, D.G., Alter, B.P. & Housman, D.E. Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. J. Clin. Invest. 61, 489\u2013498 (1978).","journal-title":"J. Clin. Invest."},{"key":"BFnm3557_CR7","doi-asserted-by":"publisher","first-page":"2346","DOI":"10.1172\/JCI63989","volume":"122","author":"MJ Weiss","year":"2012","unstructured":"Weiss, M.J., Mason, P.J. & Bessler, M. What's in a name? J. Clin. Invest. 122, 2346\u20132349 (2012).","journal-title":"J. Clin. Invest."},{"key":"BFnm3557_CR8","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1182\/blood-2011-06-358200","volume":"119","author":"R Horos","year":"2012","unstructured":"Horos, R. et al. Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts. Blood 119, 262\u2013272 (2012).","journal-title":"Blood"},{"key":"BFnm3557_CR9","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1111\/j.1365-2141.2010.08535.x","volume":"152","author":"H Torihara","year":"2011","unstructured":"Torihara, H. 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. 152, 648\u2013654 (2011).","journal-title":"Br. J. Haematol."},{"key":"BFnm3557_CR10","doi-asserted-by":"publisher","first-page":"6087","DOI":"10.1182\/blood-2011-08-371963","volume":"118","author":"P Jaako","year":"2011","unstructured":"Jaako, P. et al. Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia. Blood 118, 6087\u20136096 (2011).","journal-title":"Blood"},{"key":"BFnm3557_CR11","doi-asserted-by":"publisher","first-page":"2439","DOI":"10.1172\/JCI63597","volume":"122","author":"VG Sankaran","year":"2012","unstructured":"Sankaran, V.G. et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J. Clin. Invest. 122, 2439\u20132443 (2012).","journal-title":"J. Clin. Invest."},{"key":"BFnm3557_CR12","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/j.cell.2008.01.025","volume":"132","author":"SH Orkin","year":"2008","unstructured":"Orkin, S.H. & Zon, L.I. Hematopoiesis: an evolving paradigm for stem cell biology. Cell 132, 631\u2013644 (2008).","journal-title":"Cell"},{"key":"BFnm3557_CR13","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1038\/ng955","volume":"32","author":"J Wechsler","year":"2002","unstructured":"Wechsler, J. et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat. Genet. 32, 148\u2013152 (2002).","journal-title":"Nat. Genet."},{"key":"BFnm3557_CR14","doi-asserted-by":"crossref","first-page":"11847","DOI":"10.1016\/S0021-9258(18)60891-9","volume":"262","author":"DS Peabody","year":"1987","unstructured":"Peabody, D.S. Translation initiation at an ACG triplet in mammalian cells. J. Biol. Chem. 262, 11847\u201311851 (1987).","journal-title":"J. Biol. Chem."},{"key":"BFnm3557_CR15","doi-asserted-by":"publisher","first-page":"2567","DOI":"10.1182\/blood-2010-07-295238","volume":"117","author":"S Dutt","year":"2011","unstructured":"Dutt, S. et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood 117, 2567\u20132576 (2011).","journal-title":"Blood"},{"key":"BFnm3557_CR16","doi-asserted-by":"publisher","first-page":"4627","DOI":"10.1182\/blood-2004-08-3115","volume":"105","author":"J Flygare","year":"2005","unstructured":"Flygare, J. et al. Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. Blood 105, 4627\u20134634 (2005).","journal-title":"Blood"},{"key":"BFnm3557_CR17","doi-asserted-by":"publisher","first-page":"1519","DOI":"10.1073\/pnas.1018384108","volume":"108","author":"VG Sankaran","year":"2011","unstructured":"Sankaran, V.G. et al. MicroRNA-15a and -16\u20131 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. Proc. Natl. Acad. Sci. USA 108, 1519\u20131524 (2011).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm3557_CR18","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1073\/pnas.93.3.1065","volume":"93","author":"D Rousseau","year":"1996","unstructured":"Rousseau, D., Kaspar, R., Rosenwald, I., Gehrke, L. & Sonenberg, N. Translation initiation of ornithine decarboxylase and nucleocytoplasmic transport of cyclin D1 mRNA are increased in cells overexpressing eukaryotic initiation factor 4E. Proc. Natl. Acad. Sci. USA 93, 1065\u20131070 (1996).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm3557_CR19","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/j.cell.2011.03.028","volume":"145","author":"N Kondrashov","year":"2011","unstructured":"Kondrashov, N. et al. Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning. Cell 145, 383\u2013397 (2011).","journal-title":"Cell"},{"key":"BFnm3557_CR20","doi-asserted-by":"publisher","first-page":"9482","DOI":"10.1073\/pnas.0601637103","volume":"103","author":"DC Dieterich","year":"2006","unstructured":"Dieterich, D.C., Link, A.J., Graumann, J., Tirrell, D.A. & Schuman, E.M. Selective identification of newly synthesized proteins in mammalian cells using bioorthogonal noncanonical amino acid tagging (BONCAT). Proc. Natl. Acad. Sci. USA 103, 9482\u20139487 (2006).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm3557_CR21","first-page":"1456","volume":"91","author":"J Cmejlova","year":"2006","unstructured":"Cmejlova, J. et al. Translational efficiency in patients with Diamond-Blackfan anemia. Haematologica 91, 1456\u20131464 (2006).","journal-title":"Haematologica"},{"key":"BFnm3557_CR22","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1182\/blood-2013-01-478321","volume":"122","author":"L Gar\u00e7on","year":"2013","unstructured":"Gar\u00e7on, L. et al. Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. Blood 122, 912\u2013921 (2013).","journal-title":"Blood"},{"key":"BFnm3557_CR23","doi-asserted-by":"publisher","first-page":"1589","DOI":"10.1016\/j.cell.2013.05.049","volume":"153","author":"P Shah","year":"2013","unstructured":"Shah, P., Ding, Y., Niemczyk, M., Kudla, G. & Plotkin, J.B. Rate-limiting steps in yeast protein translation. Cell 153, 1589\u20131601 (2013).","journal-title":"Cell"},{"key":"BFnm3557_CR24","unstructured":"Sonenberg, N., Hershey, J.W.B. & Mathews, M. Translational Control of Gene Expression (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, USA, 2000)."},{"key":"BFnm3557_CR25","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.cell.2006.11.046","volume":"128","author":"NJ Moerke","year":"2007","unstructured":"Moerke, N.J. et al. Small-molecule inhibition of the interaction between the translation initiation factors eIF4E and eIF4G. Cell 128, 257\u2013267 (2007).","journal-title":"Cell"},{"key":"BFnm3557_CR26","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1038\/nature11782","volume":"493","author":"E Santini","year":"2013","unstructured":"Santini, E. et al. Exaggerated translation causes synaptic and behavioural aberrations associated with autism. Nature 493, 411\u2013415 (2013).","journal-title":"Nature"},{"key":"BFnm3557_CR27","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1038\/nature11628","volume":"493","author":"CG Gkogkas","year":"2013","unstructured":"Gkogkas, C.G. et al. Autism-related deficits via dysregulated eIF4E-dependent translational control. Nature 493, 371\u2013377 (2013).","journal-title":"Nature"},{"key":"BFnm3557_CR28","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1038\/nrm1488","volume":"5","author":"F Gebauer","year":"2004","unstructured":"Gebauer, F. & Hentze, M.W. Molecular mechanisms of translational control. Nat. Rev. Mol. Cell Biol. 5, 827\u2013835 (2004).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"BFnm3557_CR29","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1261\/rna.2309906","volume":"12","author":"JR Babendure","year":"2006","unstructured":"Babendure, J.R., Babendure, J.L., Ding, J.H. & Tsien, R.Y. Control of mammalian translation by mRNA structure near caps. RNA 12, 851\u2013861 (2006).","journal-title":"RNA"},{"key":"BFnm3557_CR30","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1083\/jcb.115.4.887","volume":"115","author":"M Kozak","year":"1991","unstructured":"Kozak, M. An analysis of vertebrate mRNA sequences: intimations of translational control. J. Cell Biol. 115, 887\u2013903 (1991).","journal-title":"J. Cell Biol."},{"key":"BFnm3557_CR31","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1074\/jbc.M109.030726","volume":"285","author":"E Kobayashi","year":"2010","unstructured":"Kobayashi, E., Shimizu, R., Kikuchi, Y., Takahashi, S. & Yamamoto, M. Loss of the Gata1 gene IE exon leads to variant transcript expression and the production of a GATA1 protein lacking the N-terminal domain. J. Biol. Chem. 285, 773\u2013783 (2010).","journal-title":"J. Biol. Chem."},{"key":"BFnm3557_CR32","doi-asserted-by":"publisher","first-page":"2034","DOI":"10.1634\/stemcells.2005-0554","volume":"24","author":"HT Gazda","year":"2006","unstructured":"Gazda, H.T. et al. Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells 24, 2034\u20132044 (2006).","journal-title":"Stem Cells"},{"key":"BFnm3557_CR33","doi-asserted-by":"publisher","first-page":"1501","DOI":"10.1084\/jem.175.6.1501","volume":"175","author":"PM Lansdorp","year":"1992","unstructured":"Lansdorp, P.M. & Dragowska, W. Long-term erythropoiesis from constant numbers of CD34+ cells in serum-free cultures initiated with highly purified progenitor cells from human bone marrow. J. Exp. Med. 175, 1501\u20131509 (1992).","journal-title":"J. Exp. Med."},{"key":"BFnm3557_CR34","doi-asserted-by":"publisher","first-page":"15545","DOI":"10.1073\/pnas.0506580102","volume":"102","author":"A Subramanian","year":"2005","unstructured":"Subramanian, A. et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc. Natl. Acad. Sci. USA 102, 15545\u201315550 (2005).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm3557_CR35","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/nature06494","volume":"451","author":"BL Ebert","year":"2008","unstructured":"Ebert, B.L. et al. Identification of RPS14 as a 5q\u2013 syndrome gene by RNA interference screen. Nature 451, 335\u2013339 (2008).","journal-title":"Nature"},{"key":"BFnm3557_CR36","doi-asserted-by":"publisher","first-page":"3246","DOI":"10.1182\/blood-2013-01-476390","volume":"121","author":"J Hu","year":"2013","unstructured":"Hu, J. et al. Isolation and functional characterization of human erythroblasts at distinct stages: implications for understanding of normal and disordered erythropoiesis in vivo. Blood 121, 3246\u20133253 (2013).","journal-title":"Blood"},{"key":"BFnm3557_CR37","doi-asserted-by":"publisher","first-page":"e356","DOI":"10.1038\/cddis.2012.88","volume":"3","author":"H Moniz","year":"2012","unstructured":"Moniz, H. et al. Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro. Cell Death Dis. 3, e356 (2012).","journal-title":"Cell Death Dis."},{"key":"BFnm3557_CR38","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1182\/blood-2008-10-180489","volume":"114","author":"CD Trainor","year":"2009","unstructured":"Trainor, C.D., Mas, C., Archambault, P., Di Lello, P. & Omichinski, J.G. GATA-1 associates with and inhibits p53. Blood 114, 165\u2013173 (2009).","journal-title":"Blood"},{"key":"BFnm3557_CR39","first-page":"315","volume":"11","author":"K Chylicki","year":"2000","unstructured":"Chylicki, K. et al. p53-mediated differentiation of the erythroleukemia cell line K562. Cell Growth Differ. 11, 315\u2013324 (2000).","journal-title":"Cell Growth Differ."},{"key":"BFnm3557_CR40","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1038\/251385a0","volume":"251","author":"HF Lodish","year":"1974","unstructured":"Lodish, H.F. Model for the regulation of mRNA translation applied to haemoglobin synthesis. Nature 251, 385\u2013388 (1974).","journal-title":"Nature"},{"key":"BFnm3557_CR41","doi-asserted-by":"publisher","first-page":"1839","DOI":"10.1126\/science.1165409","volume":"322","author":"VG Sankaran","year":"2008","unstructured":"Sankaran, V.G. et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 322, 1839\u20131842 (2008).","journal-title":"Science"},{"key":"BFnm3557_CR42","doi-asserted-by":"publisher","first-page":"3136","DOI":"10.1182\/blood-2004-04-1603","volume":"104","author":"JJ Welch","year":"2004","unstructured":"Welch, J.J. et al. Global regulation of erythroid gene expression by transcription factor GATA-1. Blood 104, 3136\u20133147 (2004).","journal-title":"Blood"},{"key":"BFnm3557_CR43","doi-asserted-by":"publisher","first-page":"D108","DOI":"10.1093\/nar\/gkj143","volume":"34","author":"V Matys","year":"2006","unstructured":"Matys, V. et al. TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes. Nucleic Acids Res. 34, D108\u2013D110 (2006).","journal-title":"Nucleic Acids Res."}],"container-title":["Nature Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nm.3557.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nm.3557","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nm.3557.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T18:45:49Z","timestamp":1684435549000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nm.3557"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,22]]},"references-count":43,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["BFnm3557"],"URL":"https:\/\/doi.org\/10.1038\/nm.3557","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.718463170.793550003","asserted-by":"object"}]},"ISSN":["1078-8956","1546-170X"],"issn-type":[{"value":"1078-8956","type":"print"},{"value":"1546-170X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,22]]},"assertion":[{"value":"18 December 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 April 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 June 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}