{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T11:04:12Z","timestamp":1793531052168,"version":"4.5.0"},"reference-count":52,"publisher":"American Society of Hematology","issue":"3","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,7,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation factor-like GTPase 1 (EFL1) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. Here, we report biallelic mutations in EFL1 in 3 unrelated individuals with clinical features of SDS. Cellular defects in these individuals include impaired ribosomal subunit joining and attenuated global protein translation as a consequence of defective eIF6 eviction. In mice, Efl1 deficiency recapitulates key aspects of the SDS phenotype. By identifying biallelic EFL1 mutations in SDS, we define this leukemia predisposition disorder as a ribosomopathy that is caused by corruption of a fundamental, conserved mechanism, which licenses entry of the large ribosomal subunit into translation.<\/jats:p>","DOI":"10.1182\/blood.2018893404","type":"journal-article","created":{"date-parts":[[2019,5,31]],"date-time":"2019-05-31T22:39:09Z","timestamp":1559342349000},"page":"277-290","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":79,"title":["EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome"],"prefix":"10.1182","volume":"134","author":[{"given":"Shengjiang","family":"Tan","sequence":"first","affiliation":[{"name":"Cambridge Institute for Medical Research, Cambridge, United Kingdom;"},{"name":"Department of Haematology, University of Cambridge, Cambridge, United Kingdom;"},{"name":"Wellcome Trust\u2013Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"La\u00ebtitia","family":"Kermasson","sequence":"additional","affiliation":[{"name":"INSERM Unit\u00e9 Mixte de Recherche 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellis\u00e9e Ligue contre le cancer, Paris, France;"},{"name":"Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Hoslin","sequence":"additional","affiliation":[{"name":"Medical Research Council Mammalian Genetics Unit, Harwell, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pekka","family":"Jaako","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research, Cambridge, United Kingdom;"},{"name":"Department of Haematology, University of Cambridge, Cambridge, United Kingdom;"},{"name":"Wellcome Trust\u2013Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Faille","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research, Cambridge, United Kingdom;"},{"name":"Department of Haematology, University of Cambridge, Cambridge, United Kingdom;"},{"name":"Wellcome Trust\u2013Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6127-7116","authenticated-orcid":false,"given":"Abraham","family":"Acevedo-Arozena","sequence":"additional","affiliation":[{"name":"Medical Research Council Mammalian Genetics Unit, Harwell, United Kingdom;"},{"name":"Unidad de Investigaci\u00f3n, Hospital Universitario de Canarias, La Laguna, Spain;"},{"name":"Instituto de Tecnolog\u00edas Biom\u00e9dicas, Universidad de La Laguna, La Laguna, Spain;"},{"name":"Centro Investigaci\u00f3n Biom\u00e9dica en Red Enfermedades Neurodegenerativas, La Laguna, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Lengline","sequence":"additional","affiliation":[{"name":"Department of Hematology, CRNMR Aplasie M\u00e9dullaire, Saint-Louis University Hospital, Assistance Publique\u2013H\u00f4pitaux de Paris, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Ranta","sequence":"additional","affiliation":[{"name":"Department of Haematology, Centre Hospitalier Universitaire de Nancy, Nancy, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryline","family":"Poir\u00e9e","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology-Oncology, Centre Hospitalier Universitaire Lenval, Nice, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Fenneteau","sequence":"additional","affiliation":[{"name":"Assistance Publique\u2013H\u00f4pitaux de Paris, Laboratory of Hematology, Robert Debr\u00e9 University Hospital, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hubert","family":"Ducou le Pointe","sequence":"additional","affiliation":[{"name":"Radiology Department, Armand Trousseau Hospital, Assistance Publique\u2013H\u00f4pitaux de Paris, Paris, France;"},{"name":"Department of Pediatric Imaging, Armand Trousseau Hospital, Sorbonne Universit\u00e9s, Pierre et Marie Curie-Paris University, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Fumagalli","sequence":"additional","affiliation":[{"name":"Institut Necker Enfants Malades, Paris, France;"},{"name":"INSERM, U1151, Universit\u00e9 Paris Descartes Sorbonne Cit\u00e9, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blandine","family":"Beaupain","sequence":"additional","affiliation":[{"name":"French Neutropenia Registry, Assistance Publique\u2013H\u00f4pitaux de Paris, Trousseau Hospital, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschk\u00e9","sequence":"additional","affiliation":[{"name":"INSERM Unit\u00e9 Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"B\u00f4le-Feysot","sequence":"additional","affiliation":[{"name":"INSERM Unit\u00e9 Mixte de Recherche 1163, Genomics Platform, Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"de Villartay","sequence":"additional","affiliation":[{"name":"INSERM Unit\u00e9 Mixte de Recherche 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellis\u00e9e Ligue contre le cancer, Paris, France;"},{"name":"Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8415-6771","authenticated-orcid":false,"given":"Christine","family":"Bellann\u00e9-Chantelot","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Piti\u00e9 Salp\u00e9tri\u00e9re Assistance Publique\u2013H\u00f4pitaux de Paris, Sorbonne Universit\u00e9, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Donadieu","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9mato-Oncologie P\u00e9diatrique, Assistance Publique\u2013H\u00f4pitaux de Paris H\u00f4pital Trousseau, Registre des neutrop\u00e9nies\u2013Centre de r\u00e9f\u00e9rence des neutrop\u00e9nies chroniques, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Kannengiesser","sequence":"additional","affiliation":[{"name":"Assistance Publique\u2013H\u00f4pitaux de Paris Service de G\u00e9n\u00e9tique, H\u00f4pital Bichat, Paris, France; and"},{"name":"Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9277-4553","authenticated-orcid":false,"given":"Alan J.","family":"Warren","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research, Cambridge, United Kingdom;"},{"name":"Department of Haematology, University of Cambridge, Cambridge, United Kingdom;"},{"name":"Wellcome Trust\u2013Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0758-8022","authenticated-orcid":false,"given":"Patrick","family":"Revy","sequence":"additional","affiliation":[{"name":"INSERM Unit\u00e9 Mixte de Recherche 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellis\u00e9e Ligue contre le cancer, Paris, France;"},{"name":"Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"17","key":"2020021108431619200_B1","first-page":"30153","article-title":"Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome","volume":"S2212-4926","author":"Warren","year":"2017","journal-title":"Adv Biol Regul"},{"issue":"18","key":"2020021108431619200_B2","doi-asserted-by":"crossref","first-page":"2784","DOI":"10.1182\/blood-2014-04-526301","article-title":"Marrow failure: a window into ribosome biology","volume":"124","author":"Ruggero","year":"2014","journal-title":"Blood"},{"issue":"1","key":"2020021108431619200_B3","doi-asserted-by":"crossref","first-page":"e1025185","DOI":"10.1080\/21675511.2015.1025185","article-title":"Ribosomopathies: global process, tissue specific defects","volume":"3","author":"Yelick","year":"2015","journal-title":"Rare Dis"},{"issue":"11","key":"2020021108431619200_B4","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1038\/nsmb.3112","article-title":"Mechanism of eIF6 release from the nascent 60S ribosomal subunit","volume":"22","author":"Weis","year":"2015","journal-title":"Nat Struct Mol Biol"},{"issue":"9","key":"2020021108431619200_B5","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.3324\/haematol.2011.057489","article-title":"Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome","volume":"97","author":"Donadieu","year":"2012","journal-title":"Haematologica"},{"issue":"1","key":"2020021108431619200_B6","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1111\/j.1749-6632.2011.06349.x","article-title":"Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome","volume":"1242","author":"Dror","year":"2011","journal-title":"Ann N Y Acad Sci"},{"issue":"5","key":"2020021108431619200_B7","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1399-0004.2010.01468.x","article-title":"Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation","volume":"79","author":"Hashmi","year":"2011","journal-title":"Clin Genet"},{"key":"2020021108431619200_B8","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.sbi.2014.01.002","article-title":"A new system for naming ribosomal proteins","volume":"24","author":"Ban","year":"2014","journal-title":"Curr Opin Struct Biol"},{"issue":"20","key":"2020021108431619200_B9","doi-asserted-by":"crossref","first-page":"14848","DOI":"10.1074\/jbc.C109.096057","article-title":"Mechanism of eIF6-mediated inhibition of ribosomal subunit joining","volume":"285","author":"Gartmann","year":"2010","journal-title":"J Biol Chem"},{"issue":"6058","key":"2020021108431619200_B10","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1126\/science.1211204","article-title":"Crystal structure of the eukaryotic 60S ribosomal subunit in complex with initiation factor 6","volume":"334","author":"Klinge","year":"2011","journal-title":"Science"},{"issue":"6966","key":"2020021108431619200_B11","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1038\/nature02160","article-title":"Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly","volume":"426","author":"Ceci","year":"2003","journal-title":"Nature"},{"issue":"1","key":"2020021108431619200_B12","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.ajhg.2016.05.002","article-title":"DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation","volume":"99","author":"Tummala","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"11","key":"2020021108431619200_B13","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1182\/blood-2016-08-735431","article-title":"Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome","volume":"129","author":"Dhanraj","year":"2017","journal-title":"Blood"},{"issue":"7","key":"2020021108431619200_B14","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1182\/blood-2017-09-806489","article-title":"A landscape of germ line mutations in a cohort of inherited bone marrow failure patients","volume":"131","author":"Bluteau","year":"2018","journal-title":"Blood"},{"issue":"2","key":"2020021108431619200_B15","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1111\/cge.13370","article-title":"Refining the phenotype associated with biallelic DNAJC21 mutations","volume":"94","author":"D\u2019Amours","year":"2018","journal-title":"Clin Genet"},{"issue":"2","key":"2020021108431619200_B16","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1074\/jbc.M109.038349","article-title":"The cytosolic J-protein, Jjj1, and Rei1 function in the removal of the pre-60 S subunit factor Arx1","volume":"285","author":"Meyer","year":"2010","journal-title":"J Biol Chem"},{"issue":"9","key":"2020021108431619200_B17","doi-asserted-by":"crossref","first-page":"1570","DOI":"10.1261\/rna.585007","article-title":"The Hsp40 chaperone Jjj1 is required for the nucleo-cytoplasmic recycling of preribosomal factors in Saccharomyces cerevisiae","volume":"13","author":"Demoinet","year":"2007","journal-title":"RNA"},{"issue":"10","key":"2020021108431619200_B18","doi-asserted-by":"crossref","first-page":"3718","DOI":"10.1128\/MCB.26.10.3718-3727.2006","article-title":"Nuclear recycling of the pre-60S ribosomal subunit-associated factor Arx1 depends on Rei1 in Saccharomyces cerevisiae","volume":"26","author":"Hung","year":"2006","journal-title":"Mol Cell Biol"},{"issue":"3","key":"2020021108431619200_B19","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1083\/jcb.200510080","article-title":"A functional network involved in the recycling of nucleocytoplasmic pre-60S factors","volume":"173","author":"Lebreton","year":"2006","journal-title":"J Cell Biol"},{"issue":"5","key":"2020021108431619200_B20","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1073\/pnas.0610704104","article-title":"The specialized cytosolic J-protein, Jjj1, functions in 60S ribosomal subunit biogenesis","volume":"104","author":"Meyer","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"issue":"7498","key":"2020021108431619200_B21","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/nature13035","article-title":"Haematopoietic stem cells require a highly regulated protein synthesis rate","volume":"509","author":"Signer","year":"2014","journal-title":"Nature"},{"issue":"9","key":"2020021108431619200_B22","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1101\/gad.623011","article-title":"Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome","volume":"25","author":"Finch","year":"2011","journal-title":"Genes Dev"},{"issue":"16","key":"2020021108431619200_B23","doi-asserted-by":"crossref","first-page":"4305","DOI":"10.1182\/blood-2011-06-353938","article-title":"Defective ribosome assembly in Shwachman-Diamond syndrome","volume":"118","author":"Wong","year":"2011","journal-title":"Blood"},{"issue":"4","key":"2020021108431619200_B24","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1038\/ng1994","article-title":"The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast","volume":"39","author":"Menne","year":"2007","journal-title":"Nat Genet"},{"issue":"7","key":"2020021108431619200_B25","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"issue":"4","key":"2020021108431619200_B26","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"3","key":"2020021108431619200_B27","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"issue":"5","key":"2020021108431619200_B28","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"6","key":"2020021108431619200_B29","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1083\/jcb.201112131","article-title":"Integrity of the P-site is probed during maturation of the 60S ribosomal subunit","volume":"197","author":"Bussiere","year":"2012","journal-title":"J Cell Biol"},{"issue":"4","key":"2020021108431619200_B30","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1111\/bjh.14887","article-title":"Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history","volume":"179","author":"Donadieu","year":"2017","journal-title":"Br J Haematol"},{"issue":"5","key":"2020021108431619200_B31","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1080\/09297040590951587","article-title":"Test review: Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV)","volume":"11","author":"Baron","year":"2005","journal-title":"Child Neuropsychol"},{"issue":"2","key":"2020021108431619200_B32","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1073\/pnas.1111561108","article-title":"Imaging protein synthesis in cells and tissues with an alkyne analog of puromycin","volume":"109","author":"Liu","year":"2012","journal-title":"Proc Natl Acad Sci USA"},{"issue":"1","key":"2020021108431619200_B33","doi-asserted-by":"crossref","first-page":"12444","DOI":"10.1038\/ncomms12444","article-title":"Novel gene function revealed by mouse mutagenesis screens for models of age-related disease","volume":"7","author":"Potter","year":"2016","journal-title":"Nat Commun"},{"issue":"4","key":"2020021108431619200_B34","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1016\/j.stem.2007.07.005","article-title":"Elucidation of the phenotypic, functional, and molecular topography of a myeloerythroid progenitor cell hierarchy","volume":"1","author":"Pronk","year":"2007","journal-title":"Cell Stem Cell"},{"issue":"7549","key":"2020021108431619200_B35","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1038\/nature14427","article-title":"Structure of the human 80S ribosome","volume":"520","author":"Khatter","year":"2015","journal-title":"Nature"},{"issue":"1","key":"2020021108431619200_B36","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1074\/jbc.M707268200","article-title":"Protein kinase C deficiency increases fatty acid oxidation and reduces fat storage","volume":"283","author":"Bansode","year":"2008","journal-title":"J Biol Chem"},{"issue":"1","key":"2020021108431619200_B37","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","article-title":"Mutations in SBDS are associated with Shwachman-Diamond syndrome","volume":"33","author":"Boocock","year":"2003","journal-title":"Nat Genet"},{"issue":"10","key":"2020021108431619200_B38","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1038\/nrg2193","article-title":"Gene conversion: mechanisms, evolution and human disease","volume":"8","author":"Chen","year":"2007","journal-title":"Nat Rev Genet"},{"key":"2020021108431619200_B39","doi-asserted-by":"crossref","first-page":"8","DOI":"10.3389\/fbioe.2015.00008","article-title":"The challenge of small-scale repeats for indel discovery","volume":"3","author":"Narzisi","year":"2015","journal-title":"Front Bioeng Biotechnol"},{"issue":"7","key":"2020021108431619200_B40","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/nrg1895","article-title":"Primate segmental duplications: crucibles of evolution, diversity and disease","volume":"7","author":"Bailey","year":"2006","journal-title":"Nat Rev Genet"},{"issue":"8","key":"2020021108431619200_B41","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1136\/jmedgenet-2016-104366","article-title":"Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome","volume":"54","author":"Stepensky","year":"2017","journal-title":"J Med Genet"},{"issue":"5","key":"2020021108431619200_B42","doi-asserted-by":"crossref","first-page":"a003046","DOI":"10.1101\/mcs.a003046","article-title":"Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features","volume":"4","author":"Tan","year":"2018","journal-title":"Cold Spring Harb Mol Case Stud"},{"issue":"11","key":"2020021108431619200_B43","doi-asserted-by":"crossref","first-page":"4090","DOI":"10.1172\/JCI92876","article-title":"Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features","volume":"127","author":"Carapito","year":"2017","journal-title":"J Clin Invest"},{"issue":"12","key":"2020021108431619200_B44","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1182\/blood-2017-12-820308","article-title":"Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome","volume":"132","author":"Bellann\u00e9-Chantelot","year":"2018","journal-title":"Blood"},{"issue":"6","key":"2020021108431619200_B45","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1016\/S1097-2765(01)00403-8","article-title":"The nucle(ol)ar Tif6p and Efl1p are required for a late cytoplasmic step of ribosome synthesis","volume":"8","author":"Senger","year":"2001","journal-title":"Mol Cell"},{"issue":"19","key":"2020021108431619200_B46","doi-asserted-by":"crossref","first-page":"3684","DOI":"10.1093\/hmg\/ddp316","article-title":"Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses","volume":"18","author":"Ball","year":"2009","journal-title":"Hum Mol Genet"},{"issue":"1","key":"2020021108431619200_B47","doi-asserted-by":"crossref","first-page":"e1006552","DOI":"10.1371\/journal.pgen.1006552","article-title":"SBDS-deficient cells have an altered homeostatic equilibrium due to translational inefficiency which explains their reduced fitness and provides a logical framework for intervention","volume":"13","author":"Calamita","year":"2017","journal-title":"PLoS Genet"},{"issue":"9","key":"2020021108431619200_B48","doi-asserted-by":"crossref","first-page":"4134","DOI":"10.1093\/nar\/gkw005","article-title":"Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C\/EBP\u03b1 and C\/EBP\u03b2 mRNAs","volume":"44","author":"In","year":"2016","journal-title":"Nucleic Acids Res"},{"issue":"6","key":"2020021108431619200_B49","doi-asserted-by":"crossref","first-page":"e1005288","DOI":"10.1371\/journal.pgen.1005288","article-title":"In vivo senescence in the Sbds-deficient murine pancreas: cell-type specific consequences of translation insufficiency","volume":"11","author":"Tourlakis","year":"2015","journal-title":"PLoS Genet"},{"issue":"6","key":"2020021108431619200_B50","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1056\/NEJMoa1611604","article-title":"Prognostic mutations in myelodysplastic syndrome after stem-cell transplantation","volume":"376","author":"Lindsley","year":"2017","journal-title":"N Engl J Med"},{"issue":"4","key":"2020021108431619200_B51","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1111\/j.1365-2141.2012.09033.x","article-title":"Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis","volume":"157","author":"Pressato","year":"2012","journal-title":"Br J Haematol"},{"issue":"1","key":"2020021108431619200_B52","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1186\/1755-8166-6-56","article-title":"Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms","volume":"6","author":"Valli","year":"2013","journal-title":"Mol Cytogenet"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/134\/3\/277\/1557683\/blood893404.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/134\/3\/277\/1557683\/blood893404.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T09:27:04Z","timestamp":1581413224000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/134\/3\/277\/260721\/EFL1-mutations-impair-eIF6-release-to-cause"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,18]]},"references-count":52,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,7,18]]}},"URL":"https:\/\/doi.org\/10.1182\/blood.2018893404","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,18]]}}}