{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T14:18:32Z","timestamp":1792592312546,"version":"4.5.0"},"reference-count":187,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2017,9,22]],"date-time":"2017-09-22T00:00:00Z","timestamp":1506038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000580","name":"Cambridge Institute for Medical Research, University of Cambridge","doi-asserted-by":"publisher","award":["100140"],"award-info":[{"award-number":["100140"]}],"id":[{"id":"10.13039\/501100000580","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018956","name":"NIHR Cambridge Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018956","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MC_U105161083"],"award-info":[{"award-number":["MC_U105161083"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Advances in Biological Regulation"],"published-print":{"date-parts":[[2018,1]]},"DOI":"10.1016\/j.jbior.2017.09.002","type":"journal-article","created":{"date-parts":[[2017,9,6]],"date-time":"2017-09-06T18:12:36Z","timestamp":1504721556000},"page":"109-127","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":174,"special_numbering":"C","title":["Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome"],"prefix":"10.1016","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9277-4553","authenticated-orcid":false,"given":"Alan J.","family":"Warren","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib1","doi-asserted-by":"crossref","first-page":"498","DOI":"10.15252\/emmm.201606660","article-title":"Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations","volume":"9","author":"Ajore","year":"2017","journal-title":"EMBO Mol. Med."},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib2","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1016\/j.ajhg.2009.04.017","article-title":"Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome","volume":"84","author":"Armistead","year":"2009","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib3","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1172\/JCI33764","article-title":"Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome","volume":"118","author":"Austin","year":"2008","journal-title":"J.\u00a0Clin. Invest."},{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib4","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1182\/blood-2005-02-0807","article-title":"The Shwachman-Diamond SBDS protein localizes to the nucleolus","volume":"106","author":"Austin","year":"2005","journal-title":"Blood"},{"issue":"19","key":"10.1016\/j.jbior.2017.09.002_bib5","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."},{"key":"10.1016\/j.jbior.2017.09.002_bib6","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.sbi.2014.01.002","article-title":"A\u00a0new system for naming ribosomal proteins","volume":"24","author":"Ban","year":"2014","journal-title":"Curr. Opin. Struct. Biol."},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib7","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.\u00a0Biol. Chem."},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib8","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nm.2063","article-title":"A\u00a0p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome","volume":"16","author":"Barlow","year":"2010","journal-title":"Nat. Med."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib9","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1007\/s004380100548","article-title":"Ria1p (Ynl163c), a protein similar to elongation factors 2, is involved in the biogenesis of the 60S subunit of the ribosome in Saccharomyces cerevisiae","volume":"266","author":"Becam","year":"2001","journal-title":"Mol. Genet. Genomics"},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib10","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1261\/rna.032292.112","article-title":"Maturation of mammalian H\/ACA box snoRNAs: PAPD5-dependent adenylation and PARN-dependent trimming","volume":"18","author":"Berndt","year":"2012","journal-title":"RNA"},{"issue":"12","key":"10.1016\/j.jbior.2017.09.002_bib11","doi-asserted-by":"crossref","first-page":"e1005677","DOI":"10.1371\/journal.pgen.1005677","article-title":"The ribosome biogenesis protein Nol9 is essential for definitive hematopoiesis and pancreas morphogenesis in zebrafish","volume":"11","author":"Bielczyk-Maczynska","year":"2015","journal-title":"PLoS Genet."},{"issue":"6135","key":"10.1016\/j.jbior.2017.09.002_bib12","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1126\/science.1234864","article-title":"Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia","volume":"340","author":"Bolze","year":"2013","journal-title":"Science"},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib13","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":"4","key":"10.1016\/j.jbior.2017.09.002_bib14","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1111\/j.1365-2141.2007.06833.x","article-title":"Gene expression profiling of CD34+ cells in patients with the 5q- syndrome","volume":"139","author":"Boultwood","year":"2007","journal-title":"Br. J. Haematol."},{"issue":"7","key":"10.1016\/j.jbior.2017.09.002_bib15","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/ejhg.2012.2","article-title":"Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome","volume":"20","author":"Bowman","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib16","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1016\/j.molcel.2007.06.034","article-title":"Arx1 functions as an unorthodox nuclear export receptor for the 60S preribosomal subunit","volume":"27","author":"Bradatsch","year":"2007","journal-title":"Mol. Cell"},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib17","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1534\/genetics.114.168211","article-title":"A\u00a0novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans","volume":"198","author":"Brooks","year":"2014","journal-title":"Genetics"},{"key":"10.1016\/j.jbior.2017.09.002_bib18","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.pediatrneurol.2015.12.005","article-title":"Hoyeraal-hreidarsson syndrome due to PARN mutations: fourteen years of follow-up","volume":"56","author":"Burris","year":"2016","journal-title":"Pediatr. Neurol."},{"issue":"26","key":"10.1016\/j.jbior.2017.09.002_bib19","doi-asserted-by":"crossref","first-page":"5143","DOI":"10.1182\/blood-2012-04-420166","article-title":"Impaired ribosomal subunit association in Shwachman-Diamond syndrome","volume":"120","author":"Burwick","year":"2012","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib20","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":"6966","key":"10.1016\/j.jbior.2017.09.002_bib21","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":"6","key":"10.1016\/j.jbior.2017.09.002_bib22","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1086\/344580","article-title":"A\u00a0missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis","volume":"71","author":"Chagnon","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"6321","key":"10.1016\/j.jbior.2017.09.002_bib23","doi-asserted-by":"crossref","DOI":"10.1126\/science.aal1880","article-title":"Architecture of the yeast small subunit processome","volume":"355","author":"Chaker-Margot","year":"2017","journal-title":"Science"},{"issue":"52","key":"10.1016\/j.jbior.2017.09.002_bib24","doi-asserted-by":"crossref","first-page":"18631","DOI":"10.1073\/pnas.1422488112","article-title":"Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response","volume":"111","author":"Ciccia","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"12","key":"10.1016\/j.jbior.2017.09.002_bib25","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1002\/humu.20608","article-title":"Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia","volume":"28","author":"Cmejla","year":"2007","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib26","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1182\/blood.V30.2.251.251","article-title":"Riddle: what do aplastic anemia, paroxysmal nocturnal hemoglobinuria (PNH) and \u201chypoplastic\u201d leukemia have in common?","volume":"30","author":"Dameshek","year":"1967","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib27","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/ng.724","article-title":"Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome","volume":"43","author":"Dauwerse","year":"2011","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib28","doi-asserted-by":"crossref","first-page":"208","DOI":"10.4161\/rna.6.3.8584","article-title":"Conserved and variable domains of RNase MRP RNA","volume":"6","author":"Davila Lopez","year":"2009","journal-title":"RNA Biol."},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib29","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1038\/ng.2508","article-title":"Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia","volume":"45","author":"De Keersmaecker","year":"2013","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib30","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1016\/j.jmb.2009.12.039","article-title":"Structure, dynamics, and RNA interaction analysis of the human SBDS protein","volume":"396","author":"de Oliveira","year":"2010","journal-title":"J.\u00a0Mol. Biol."},{"issue":"9","key":"10.1016\/j.jbior.2017.09.002_bib31","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":"11","key":"10.1016\/j.jbior.2017.09.002_bib32","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1136\/jmedgenet-2015-103292","article-title":"Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)","volume":"52","author":"Dhanraj","year":"2015","journal-title":"J.\u00a0Med. Genet."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib33","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1002\/pbc.24453","article-title":"Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome","volume":"60","author":"Dhanraj","year":"2013","journal-title":"Pediatr. Blood Cancer"},{"issue":"11","key":"10.1016\/j.jbior.2017.09.002_bib34","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":"2","key":"10.1016\/j.jbior.2017.09.002_bib35","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.ajhg.2009.12.015","article-title":"Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia","volume":"86","author":"Doherty","year":"2010","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.jbior.2017.09.002_bib36","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":"7628","key":"10.1016\/j.jbior.2017.09.002_bib37","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1038\/nature20131","article-title":"Leukaemogenic effects of Ptpn11 activating mutations in the stem cell microenvironment","volume":"539","author":"Dong","year":"2016","journal-title":"Nature"},{"issue":"6892","key":"10.1016\/j.jbior.2017.09.002_bib38","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1038\/nature00769","article-title":"A\u00a0large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis","volume":"417","author":"Dragon","year":"2002","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib39","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/5951","article-title":"The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia","volume":"21","author":"Draptchinskaia","year":"1999","journal-title":"Nat. Genet."},{"issue":"7176","key":"10.1016\/j.jbior.2017.09.002_bib40","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/nature06494","article-title":"Identification of RPS14 as a 5q- syndrome gene by RNA interference screen","volume":"451","author":"Ebert","year":"2008","journal-title":"Nature"},{"issue":"11","key":"10.1016\/j.jbior.2017.09.002_bib41","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1016\/j.exphem.2006.06.009","article-title":"Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene","volume":"34","author":"Erdos","year":"2006","journal-title":"Exp. Hematol."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib42","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1182\/blood-2008-02-140012","article-title":"Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia","volume":"112","author":"Farrar","year":"2008","journal-title":"Blood"},{"issue":"9","key":"10.1016\/j.jbior.2017.09.002_bib43","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":"2","key":"10.1016\/j.jbior.2017.09.002_bib44","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/nprot.2017.004","article-title":"Advances in the field of single-particle cryo-electron microscopy over the last decade","volume":"12","author":"Frank","year":"2017","journal-title":"Nat. Protoc."},{"issue":"10","key":"10.1016\/j.jbior.2017.09.002_bib45","doi-asserted-by":"crossref","first-page":"3405","DOI":"10.1128\/MCB.21.10.3405-3415.2001","article-title":"Nuclear export of 60s ribosomal subunits depends on Xpo1p and requires a nuclear export sequence-containing factor, Nmd3p, that associates with the large subunit protein Rpl10p","volume":"21","author":"Gadal","year":"2001","journal-title":"Mol. Cell Biol."},{"issue":"20","key":"10.1016\/j.jbior.2017.09.002_bib46","doi-asserted-by":"crossref","first-page":"2506","DOI":"10.1101\/gad.1226604","article-title":"RNA polymerase I transcription and pre-rRNA processing are linked by specific SSU processome components","volume":"18","author":"Gallagher","year":"2004","journal-title":"Genes Dev."},{"issue":"20","key":"10.1016\/j.jbior.2017.09.002_bib47","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.\u00a0Biol. Chem."},{"issue":"7","key":"10.1016\/j.jbior.2017.09.002_bib48","doi-asserted-by":"crossref","first-page":"3762","DOI":"10.1073\/pnas.071057198","article-title":"RAC, a stable ribosome-associated complex in yeast formed by the DnaK-DnaJ homologs Ssz1p and zuotin","volume":"98","author":"Gautschi","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib49","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1086\/510020","article-title":"Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia","volume":"79","author":"Gazda","year":"2006","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.jbior.2017.09.002_bib50","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1002\/humu.22081","article-title":"Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia","volume":"33","author":"Gazda","year":"2012","journal-title":"Hum. Mutat."},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib51","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.ajhg.2008.11.004","article-title":"Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients","volume":"83","author":"Gazda","year":"2008","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib52","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1101\/gad.286963.116","article-title":"Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing","volume":"31","author":"Goldfarb","year":"2017","journal-title":"Genes Dev."},{"key":"10.1016\/j.jbior.2017.09.002_bib53","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1471-2199-13-19","article-title":"The Saccharomyces cerevisiae Hot1p regulated gene YHR087W (HGI1) has a role in translation upon high glucose concentration stress","volume":"13","author":"Gomar-Alba","year":"2012","journal-title":"BMC Mol. Biol."},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib54","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.jmb.2005.07.037","article-title":"Deletion of EFL1 results in heterogeneity of the 60 S GTPase-associated rRNA conformation","volume":"352","author":"Graindorge","year":"2005","journal-title":"J.\u00a0Mol. Biol."},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib55","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/S1097-2765(02)00579-8","article-title":"90S pre-ribosomes include the 35S pre-rRNA, the U3 snoRNP, and 40S subunit processing factors but predominantly lack 60S synthesis factors","volume":"10","author":"Grandi","year":"2002","journal-title":"Mol. Cell"},{"issue":"12","key":"10.1016\/j.jbior.2017.09.002_bib56","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1038\/nsmb.2425","article-title":"Cryo-EM structures of Arx1 and maturation factors Rei1 and Jjj1 bound to the 60S ribosomal subunit","volume":"19","author":"Greber","year":"2012","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.jbior.2017.09.002_bib57","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.cell.2015.11.027","article-title":"Insertion of the biogenesis factor Rei1 probes the ribosomal tunnel during 60S maturation","volume":"164","author":"Greber","year":"2016","journal-title":"Cell"},{"issue":"11","key":"10.1016\/j.jbior.2017.09.002_bib58","doi-asserted-by":"crossref","first-page":"6108","DOI":"10.1073\/pnas.95.11.6108","article-title":"Role of the J-domain in the cooperation of Hsp40 with Hsp70","volume":"95","author":"Greene","year":"1998","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"9","key":"10.1016\/j.jbior.2017.09.002_bib59","doi-asserted-by":"crossref","first-page":"2240","DOI":"10.1002\/ajmg.a.36633","article-title":"Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28","volume":"164A","author":"Gripp","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"issue":"12","key":"10.1016\/j.jbior.2017.09.002_bib60","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1038\/82017","article-title":"Crystal structures of ribosome anti-association factor IF6","volume":"7","author":"Groft","year":"2000","journal-title":"Nat. Struct. Biol."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib61","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/sj.emboj.7600547","article-title":"Release of the export adapter, Nmd3p, from the 60S ribosomal subunit requires Rpl10p and the cytoplasmic GTPase Lsg1p","volume":"24","author":"Hedges","year":"2005","journal-title":"EMBO J."},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib62","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ng0598-32","article-title":"X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions","volume":"19","author":"Heiss","year":"1998","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib63","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.bbrc.2013.06.028","article-title":"Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome","volume":"437","author":"Henson","year":"2013","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib64","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1083\/jcb.151.5.1057","article-title":"Nmd3p is a Crm1p-dependent adapter protein for nuclear export of the large ribosomal subunit","volume":"151","author":"Ho","year":"2000","journal-title":"J.\u00a0Cell Biol."},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib65","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/nsmb942","article-title":"The Hsp70 Ssz1 modulates the function of the ribosome-associated J-protein Zuo1","volume":"12","author":"Huang","year":"2005","journal-title":"Nat. Struct. Mol. Biol."},{"issue":"10","key":"10.1016\/j.jbior.2017.09.002_bib66","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."},{"key":"10.1016\/j.jbior.2017.09.002_bib67","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\/EBPalpha and C\/EBPbeta mRNAs","volume":"44","author":"In","year":"2016","journal-title":"Nucleic Acids Res."},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib68","doi-asserted-by":"crossref","first-page":"3437","DOI":"10.1093\/nar\/gkw1047","article-title":"Poly(A)-specific ribonuclease regulates the processing of small-subunit rRNAs in human cells","volume":"45","author":"Ishikawa","year":"2017","journal-title":"Nucleic Acids Res."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib69","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1016\/j.cell.2016.01.008","article-title":"Identification and functional analysis of the pre-piRNA 3' trimmer in silkworms","volume":"164","author":"Izumi","year":"2016","journal-title":"Cell"},{"issue":"11","key":"10.1016\/j.jbior.2017.09.002_bib70","doi-asserted-by":"crossref","first-page":"2221","DOI":"10.1038\/leu.2015.128","article-title":"Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia","volume":"29","author":"Jaako","year":"2015","journal-title":"Leukemia"},{"issue":"10","key":"10.1016\/j.jbior.2017.09.002_bib71","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1038\/ng.3661","article-title":"Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts","volume":"48","author":"Jenkinson","year":"2016","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib72","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.molcel.2007.08.022","article-title":"Structural basis of J cochaperone binding and regulation of Hsp70","volume":"28","author":"Jiang","year":"2007","journal-title":"Mol. Cell"},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib73","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1083\/jcb.201205021","article-title":"Rlp24 activates the AAA-ATPase Drg1 to initiate cytoplasmic pre-60S maturation","volume":"199","author":"Kappel","year":"2012","journal-title":"J.\u00a0Cell Biol."},{"issue":"15","key":"10.1016\/j.jbior.2017.09.002_bib74","doi-asserted-by":"crossref","first-page":"7521","DOI":"10.1093\/nar\/gkv669","article-title":"Destabilization of microRNAs in human cells by 3' deadenylation mediated by PARN and CUGBP1","volume":"43","author":"Katoh","year":"2015","journal-title":"Nucleic Acids Res."},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib75","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1083\/jcb.200904111","article-title":"Yvh1 is required for a late maturation step in the 60S biogenesis pathway","volume":"186","author":"Kemmler","year":"2009","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.jbior.2017.09.002_bib76","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1101\/sqb.2006.71.025","article-title":"Biogenesis and intranuclear trafficking of human box C\/D and H\/ACA RNPs","volume":"71","author":"Kiss","year":"2006","journal-title":"Cold Spring Harb. Symp. Quant. Biol."},{"issue":"12","key":"10.1016\/j.jbior.2017.09.002_bib77","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/sj.mp.4001883","article-title":"Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism","volume":"11","author":"Klauck","year":"2006","journal-title":"Mol. Psychiatry"},{"issue":"6058","key":"10.1016\/j.jbior.2017.09.002_bib78","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":"2012","journal-title":"Science"},{"key":"10.1016\/j.jbior.2017.09.002_bib79","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.tibs.2012.02.007","article-title":"Atomic structures of the eukaryotic ribosome","volume":"37","author":"Klinge","year":"2012","journal-title":"Trends Biochem. Sci."},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib80","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1101\/gr.162001","article-title":"Prediction of the archaeal exosome and its connections with the proteasome and the translation and transcription machineries by a comparative-genomic approach","volume":"11","author":"Koonin","year":"2001","journal-title":"Genome Res."},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib81","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/j.cell.2016.06.014","article-title":"Architecture of the 90S pre-ribosome: a structural view on the birth of the eukaryotic ribosome","volume":"166","author":"Kornprobst","year":"2016","journal-title":"Cell"},{"issue":"23","key":"10.1016\/j.jbior.2017.09.002_bib82","doi-asserted-by":"crossref","first-page":"4450","DOI":"10.1016\/j.febslet.2007.08.024","article-title":"The crystal structure of Ebp1 reveals a methionine aminopeptidase fold as binding platform for multiple interactions","volume":"581","author":"Kowalinski","year":"2007","journal-title":"FEBS Lett."},{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib83","doi-asserted-by":"crossref","first-page":"2147","DOI":"10.1074\/jbc.M208856200","article-title":"Lsm Proteins are required for normal processing and stability of ribosomal RNAs","volume":"278","author":"Kufel","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib84","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1182\/blood-2004-11-4371","article-title":"Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship","volume":"106","author":"Kuijpers","year":"2005","journal-title":"Blood"},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib85","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1212\/WNL.46.5.1297","article-title":"Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy","volume":"46","author":"Labrune","year":"1996","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib86","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1101\/gad.12.4.527","article-title":"The box H\u00a0+\u00a0ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase","volume":"12","author":"Lafontaine","year":"1998","journal-title":"Genes Dev."},{"issue":"11","key":"10.1016\/j.jbior.2017.09.002_bib87","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1007\/s00439-013-1326-z","article-title":"Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia","volume":"132","author":"Landowski","year":"2013","journal-title":"Hum. Genet."},{"issue":"8","key":"10.1016\/j.jbior.2017.09.002_bib88","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1038\/ncb3007","article-title":"The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage","volume":"16","author":"Larsen","year":"2014","journal-title":"Nat. Cell Biol."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib89","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1083\/jcb.200510080","article-title":"A\u00a0functional network involved in the recycling of nucleocytoplasmic pre-60S factors","volume":"173","author":"Lebreton","year":"2006","journal-title":"J.\u00a0Cell Biol."},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib90","doi-asserted-by":"crossref","first-page":"2044","DOI":"10.1182\/blood-2010-05-282574","article-title":"Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis","volume":"117","author":"Leung","year":"2011","journal-title":"Blood"},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib91","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.\u00a0Engl. J. Med."},{"key":"10.1016\/j.jbior.2017.09.002_bib92","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1182\/blood-2015-10-674572","article-title":"Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations","volume":"127","author":"Ljungstrom","year":"2016","journal-title":"Blood"},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib93","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.molcel.2010.06.018","article-title":"Defining the pathway of cytoplasmic maturation of the 60S ribosomal subunit","volume":"39","author":"Lo","year":"2010","journal-title":"Mol. Cell"},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib94","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1083\/jcb.200904110","article-title":"Ribosome stalk assembly requires the dual-specificity phosphatase Yvh1 for the exchange of Mrt4 with P0","volume":"186","author":"Lo","year":"2009","journal-title":"J.\u00a0Cell Biol."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib95","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/nsmb.3364","article-title":"Structural snapshot of cytoplasmic pre-60S ribosomal particles bound by Nmd3, Lsg1, Tif6 and Reh1","volume":"24","author":"Ma","year":"2017","journal-title":"Nat. Struct. Mol. Biol."},{"issue":"30","key":"10.1016\/j.jbior.2017.09.002_bib96","doi-asserted-by":"crossref","first-page":"10408","DOI":"10.1073\/pnas.0805036105","article-title":"Loss of p53 synthesis in zebrafish tumors with ribosomal protein gene mutations","volume":"105","author":"MacInnes","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib97","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.0009-9163.2004.00198.x","article-title":"Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS","volume":"65","author":"Makitie","year":"2004","journal-title":"Clin. Genet."},{"issue":"7","key":"10.1016\/j.jbior.2017.09.002_bib98","doi-asserted-by":"crossref","first-page":"854","DOI":"10.15252\/embj.201696012","article-title":"Nmd3 is a structural mimic of eIF5A, and activates the cpGTPase Lsg1 during 60S ribosome biogenesis","volume":"36","author":"Malyutin","year":"2017","journal-title":"EMBO J."},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib99","doi-asserted-by":"crossref","first-page":"e1003573","DOI":"10.1371\/journal.pgen.1003573","article-title":"BMS1 is mutated in aplasia cutis congenita","volume":"9","author":"Marneros","year":"2013","journal-title":"PLoS Genet."},{"issue":"7481","key":"10.1016\/j.jbior.2017.09.002_bib100","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/nature12731","article-title":"Coupled GTPase and remodelling ATPase activities form a checkpoint for ribosome export","volume":"505","author":"Matsuo","year":"2013","journal-title":"Nature"},{"issue":"8","key":"10.1016\/j.jbior.2017.09.002_bib101","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1038\/ng.188","article-title":"Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects","volume":"40","author":"McGowan","year":"2008","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib102","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":"2","key":"10.1016\/j.jbior.2017.09.002_bib103","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.\u00a0Biol. Chem."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib104","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. U. S. A."},{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib105","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1093\/nar\/gkq931","article-title":"The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Psi1191 in yeast 18S rRNA","volume":"39","author":"Meyer","year":"2011","journal-title":"Nucleic Acids Res."},{"issue":"17","key":"10.1016\/j.jbior.2017.09.002_bib106","doi-asserted-by":"crossref","first-page":"e38","DOI":"10.1182\/blood-2016-08-736108","article-title":"Slowed decay of mRNAs enhances platelet specific translation","volume":"129","author":"Mills","year":"2017","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib107","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1182\/blood-2013-11-540278","article-title":"Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families","volume":"124","author":"Mirabello","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.jbior.2017.09.002_bib108","doi-asserted-by":"crossref","first-page":"6822","DOI":"10.1093\/nar\/gkx253","article-title":"Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation","volume":"45","author":"Montellese","year":"2017","journal-title":"Nucleic Acids Res."},{"issue":"12","key":"10.1016\/j.jbior.2017.09.002_bib109","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1038\/ng.3423","article-title":"Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component","volume":"47","author":"Moon","year":"2015","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib110","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.jpeds.2013.11.039","article-title":"Variable clinical presentation of shwachman-diamond syndrome: update from the North American shwachman-diamond syndrome registry","volume":"164","author":"Myers","year":"2014","journal-title":"J.\u00a0Pediatr."},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib111","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1111\/pin.12133","article-title":"Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome","volume":"64","author":"Nakaya","year":"2014","journal-title":"Pathol. Int."},{"key":"10.1016\/j.jbior.2017.09.002_bib112","first-page":"1135","article-title":"Lipomatous congenital hypoplasia of the exocrine pancreas in children. (2 cases and review of the literature)","volume":"18","author":"Nezelof","year":"1961","journal-title":"Arch. Fr. Pediatr."},{"key":"10.1016\/j.jbior.2017.09.002_bib113","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/1472-6807-9-32","article-title":"Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein","volume":"9","author":"Ng","year":"2009","journal-title":"BMC Struct. Biol."},{"issue":"10","key":"10.1016\/j.jbior.2017.09.002_bib114","doi-asserted-by":"crossref","first-page":"2244","DOI":"10.1016\/j.celrep.2015.11.003","article-title":"A\u00a0polyadenylation-dependent 3' end maturation pathway is required for the synthesis of the human telomerase RNA","volume":"13","author":"Nguyen","year":"2015","journal-title":"Cell Rep."},{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib115","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1002\/humu.9324","article-title":"Identification of novel mutations in patients with Shwachman-Diamond syndrome","volume":"25","author":"Nicolis","year":"2005","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib116","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1053\/j.gastro.2014.06.009","article-title":"Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency","volume":"147","author":"Nieminen","year":"2014","journal-title":"Gastroenterology"},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib117","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1016\/j.ajhg.2008.03.014","article-title":"Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis","volume":"82","author":"Nousbeck","year":"2008","journal-title":"Am. J. Hum. Genet."},{"issue":"16","key":"10.1016\/j.jbior.2017.09.002_bib118","doi-asserted-by":"crossref","first-page":"3907","DOI":"10.1242\/dev.01268","article-title":"Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute","volume":"131","author":"Oliver","year":"2004","journal-title":"Development"},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib119","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.ajhg.2017.01.034","article-title":"A\u00a0ribosomopathy reveals decoding defective ribosomes driving human dysmorphism","volume":"100","author":"Paolini","year":"2017","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.jbior.2017.09.002_bib120","doi-asserted-by":"crossref","first-page":"e1006894","DOI":"10.1371\/journal.pgen.1006894","article-title":"The T-cell leukemia related rpl10-R98S mutant traps the 60S export adapter Nmd3 in the ribosomal P site in yeast","volume":"13","author":"Patchett","year":"2017","journal-title":"PLoS Genet."},{"issue":"7","key":"10.1016\/j.jbior.2017.09.002_bib121","doi-asserted-by":"crossref","first-page":"3702","DOI":"10.1128\/MCB.17.7.3702","article-title":"The sequence of the 5' end of the U8 small nucleolar RNA is critical for 5.8S and 28S rRNA maturation","volume":"17","author":"Peculis","year":"1997","journal-title":"Mol. Cell Biol."},{"issue":"1\u20132","key":"10.1016\/j.jbior.2017.09.002_bib122","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S0378-1119(01)00596-0","article-title":"The U8 snoRNA gene family: identification and characterization of distinct, functional U8 genes in Xenopus","volume":"274","author":"Peculis","year":"2001","journal-title":"Gene"},{"issue":"18","key":"10.1016\/j.jbior.2017.09.002_bib123","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1101\/gad.8.18.2241","article-title":"Sequence and structural elements critical for U8 snRNP function in Xenopus oocytes are evolutionarily conserved","volume":"8","author":"Peculis","year":"1994","journal-title":"Genes Dev."},{"key":"10.1016\/j.jbior.2017.09.002_bib124","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.jbior.2016.08.001","article-title":"Splicing factor gene mutations in the myelodysplastic syndromes: impact on disease phenotype and therapeutic applications","volume":"63","author":"Pellagatti","year":"2017","journal-title":"Adv. Biol. Regul."},{"key":"10.1016\/j.jbior.2017.09.002_bib125","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.jbior.2015.09.005","article-title":"Application of genome editing technologies to the study and treatment of hematological disease","volume":"60","author":"Pellagatti","year":"2016","journal-title":"Adv. Biol. Regul."},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib126","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1006\/jmbi.1996.0395","article-title":"NMR structure of the J-domain and the Gly\/Phe-rich region of the Escherichia coli DnaJ chaperone","volume":"260","author":"Pellecchia","year":"1996","journal-title":"J.\u00a0Mol. Biol."},{"issue":"19","key":"10.1016\/j.jbior.2017.09.002_bib127","doi-asserted-by":"crossref","first-page":"6581","DOI":"10.1128\/MCB.00668-07","article-title":"Cytoplasmic recycling of 60S preribosomal factors depends on the AAA protein Drg1","volume":"27","author":"Pertschy","year":"2007","journal-title":"Mol. Cell Biol."},{"issue":"14","key":"10.1016\/j.jbior.2017.09.002_bib128","doi-asserted-by":"crossref","first-page":"4485","DOI":"10.1093\/nar\/gki756","article-title":"Identification and analysis of ribonuclease P and MRP RNA in a broad range of eukaryotes","volume":"33","author":"Piccinelli","year":"2005","journal-title":"Nucleic Acids Res."},{"issue":"4","key":"10.1016\/j.jbior.2017.09.002_bib129","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":"16","key":"10.1016\/j.jbior.2017.09.002_bib130","doi-asserted-by":"crossref","first-page":"2041","DOI":"10.1101\/gad.436707","article-title":"Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells","volume":"21","author":"Prieto","year":"2007","journal-title":"Genes Dev."},{"issue":"17","key":"10.1016\/j.jbior.2017.09.002_bib131","doi-asserted-by":"crossref","first-page":"3232","DOI":"10.1242\/dev.077107","article-title":"Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development","volume":"139","author":"Provost","year":"2012","journal-title":"Development"},{"issue":"18","key":"10.1016\/j.jbior.2017.09.002_bib132","doi-asserted-by":"crossref","first-page":"3764","DOI":"10.1182\/blood-2012-03-415349","article-title":"Inactivation of ribosomal protein L22 promotes transformation by induction of the stemness factor, Lin28B","volume":"120","author":"Rao","year":"2012","journal-title":"Blood"},{"issue":"15","key":"10.1016\/j.jbior.2017.09.002_bib133","doi-asserted-by":"crossref","first-page":"9681","DOI":"10.1074\/jbc.M710294200","article-title":"The Saccharomyces cerevisiae 60 S ribosome biogenesis factor Tif6p is regulated by Hrr25p-mediated phosphorylation","volume":"283","author":"Ray","year":"2008","journal-title":"J.\u00a0Biol. Chem."},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib134","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0092-8674(01)00205-7","article-title":"Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia","volume":"104","author":"Ridanpaa","year":"2001","journal-title":"Cell"},{"issue":"11","key":"10.1016\/j.jbior.2017.09.002_bib135","doi-asserted-by":"crossref","first-page":"3514","DOI":"10.1093\/nar\/gkp209","article-title":"The amino terminal domain from Mrt4 protein can functionally replace the RNA binding domain of the ribosomal P0 protein","volume":"37","author":"Rodriguez-Mateos","year":"2009","journal-title":"Nucleic Acids Res."},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib136","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1111\/j.1365-2141.2009.07692.x","article-title":"Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing","volume":"145","author":"Rujkijyanont","year":"2009","journal-title":"Br. J. Haematol."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib137","doi-asserted-by":"crossref","first-page":"363","DOI":"10.3324\/haematol.11579","article-title":"SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway","volume":"93","author":"Rujkijyanont","year":"2008","journal-title":"Haematologica"},{"issue":"19","key":"10.1016\/j.jbior.2017.09.002_bib138","doi-asserted-by":"crossref","first-page":"6647","DOI":"10.1016\/S0021-9258(17)37963-2","article-title":"Identification of a wheat germ ribosome dissociation factor distinct from initiation factor eIF-3","volume":"253","author":"Russell","year":"1978","journal-title":"J.\u00a0Biol. Chem."},{"issue":"18","key":"10.1016\/j.jbior.2017.09.002_bib139","doi-asserted-by":"crossref","first-page":"8796","DOI":"10.1016\/S0021-9258(19)86768-6","article-title":"Purification and characterization of a ribosome dissociation factor (eukaryotic initiation factor 6) from wheat germ","volume":"254","author":"Russell","year":"1979","journal-title":"J.\u00a0Biol. Chem."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib140","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1111\/j.1525-1470.2010.01244.x","article-title":"Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome","volume":"28","author":"Sack","year":"2011","journal-title":"Pediatr. Dermatol"},{"issue":"7","key":"10.1016\/j.jbior.2017.09.002_bib141","doi-asserted-by":"crossref","first-page":"2439","DOI":"10.1172\/JCI63597","article-title":"Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia","volume":"122","author":"Sankaran","year":"2012","journal-title":"J.\u00a0Clin. Invest."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib142","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1083\/jcb.144.5.823","article-title":"The beta4 integrin interactor p27(BBP\/eIF6) is an essential nuclear matrix protein involved in 60S ribosomal subunit assembly","volume":"144","author":"Sanvito","year":"1999","journal-title":"J.\u00a0Cell Biol."},{"issue":"12","key":"10.1016\/j.jbior.2017.09.002_bib143","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1038\/nsmb.3312","article-title":"Ribosome-stalk biogenesis is coupled with recruitment of nuclear-export factor to the nascent 60S subunit","volume":"23","author":"Sarkar","year":"2016","journal-title":"Nat. Struct. Mol. Biol."},{"issue":"19","key":"10.1016\/j.jbior.2017.09.002_bib144","doi-asserted-by":"crossref","first-page":"19213","DOI":"10.1074\/jbc.M414421200","article-title":"The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism","volume":"280","author":"Savchenko","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib145","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/yea.2898","article-title":"Genetic interactions of yeast NEP1 (EMG1), encoding an essential factor in ribosome biogenesis","volume":"29","author":"Schilling","year":"2012","journal-title":"Yeast"},{"key":"10.1016\/j.jbior.2017.09.002_bib146","doi-asserted-by":"crossref","first-page":"e03473","DOI":"10.7554\/eLife.03473","article-title":"A\u00a0RanGTP-independent mechanism allows ribosomal protein nuclear import for ribosome assembly","volume":"3","author":"Schutz","year":"2014","journal-title":"Elife"},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib147","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":"10.1016\/j.jbior.2017.09.002_bib148","doi-asserted-by":"crossref","first-page":"19221","DOI":"10.1074\/jbc.M414656200","article-title":"Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond syndrome","volume":"280","author":"Shammas","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib149","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/pbc.24743","article-title":"CNS lymphoma in a patient with Shwachman Diamond syndrome","volume":"61","author":"Sharma","year":"2014","journal-title":"Pediatr. Blood Cancer"},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib150","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/j.ccell.2015.04.008","article-title":"Mutant U2AF1 expression alters hematopoiesis and Pre-mRNA splicing in\u00a0vivo","volume":"27","author":"Shirai","year":"2015","journal-title":"Cancer Cell"},{"key":"10.1016\/j.jbior.2017.09.002_bib151","doi-asserted-by":"crossref","DOI":"10.1128\/MCB.00264-17","article-title":"PARN modulates Y RNA stability, 3' end formation and its modification","author":"Shukla","year":"2017","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.jbior.2017.09.002_bib152","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/S0022-3476(64)80150-5","article-title":"The syndrome of pancreatic insufficiency and bone marrow dysfunction","volume":"65","author":"Shwachman","year":"1964","journal-title":"J.\u00a0Pediatr."},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib153","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1128\/MCB.19.2.1416","article-title":"The Saccharomyces cerevisiae homologue of mammalian translation initiation factor 6 does not function as a translation initiation factor","volume":"19","author":"Si","year":"1999","journal-title":"Mol. Cell Biol."},{"issue":"7498","key":"10.1016\/j.jbior.2017.09.002_bib154","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":"5","key":"10.1016\/j.jbior.2017.09.002_bib155","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1002\/pbc.24052","article-title":"Breast cancer in a case of Shwachman Diamond syndrome","volume":"59","author":"Singh","year":"2012","journal-title":"Pediatr. Blood Cancer"},{"issue":"2","key":"10.1016\/j.jbior.2017.09.002_bib156","first-page":"4","article-title":"De novo mutations causing shwachman-diamond syndrome and a founder mutation in SBDS in the French Canadian population","volume":"1","author":"Steele","year":"2014","journal-title":"J.\u00a0Investig. Genomics"},{"issue":"8","key":"10.1016\/j.jbior.2017.09.002_bib157","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 aShwachman-Diamond like syndrome","volume":"54","author":"Stepensky","year":"2017","journal-title":"J.\u00a0Med. Genet."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib158","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1038\/ng.3278","article-title":"Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening","volume":"47","author":"Stuart","year":"2015","journal-title":"Nat. Genet."},{"issue":"13","key":"10.1016\/j.jbior.2017.09.002_bib159","doi-asserted-by":"crossref","first-page":"3127","DOI":"10.1002\/j.1460-2075.1994.tb06611.x","article-title":"The yeast NOP4 gene product is an essential nucleolar protein required for pre-rRNA processing and accumulation of 60S ribosomal subunits","volume":"13","author":"Sun","year":"1994","journal-title":"EMBO J."},{"key":"10.1016\/j.jbior.2017.09.002_bib160","article-title":"Molecular architecture of the 90S small subunit pre-ribosome","volume":"6","author":"Sun","year":"2017","journal-title":"Elife"},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib161","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1016\/j.cell.2016.02.008","article-title":"The RNase PARN-1 trims piRNA 3' ends to promote transcriptome surveillance in C. elegans","volume":"164","author":"Tang","year":"2016","journal-title":"Cell"},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib162","doi-asserted-by":"crossref","first-page":"e1005288","DOI":"10.1371\/journal.pgen.1005288","article-title":"In\u00a0Vivo 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":"1","key":"10.1016\/j.jbior.2017.09.002_bib163","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/0014-4827(75)90361-4","article-title":"Ribosomal precursor particles from yeast","volume":"90","author":"Trapman","year":"1975","journal-title":"Exp. Cell Res."},{"issue":"10","key":"10.1016\/j.jbior.2017.09.002_bib164","doi-asserted-by":"crossref","first-page":"2232","DOI":"10.1016\/j.celrep.2015.10.075","article-title":"Human telomerase RNA processing and quality control","volume":"13","author":"Tseng","year":"2015","journal-title":"Cell Rep."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib165","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1172\/JCI78963","article-title":"Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita","volume":"125","author":"Tummala","year":"2015","journal-title":"J.\u00a0Clin. Invest."},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib166","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":"10","key":"10.1016\/j.jbior.2017.09.002_bib167","doi-asserted-by":"crossref","first-page":"3113","DOI":"10.1002\/j.1460-2075.1989.tb08463.x","article-title":"U3, U8 and U13 comprise a new class of mammalian snRNPs localized in the cell nucleolus","volume":"8","author":"Tyc","year":"1989","journal-title":"EMBO J."},{"issue":"13","key":"10.1016\/j.jbior.2017.09.002_bib168","doi-asserted-by":"crossref","first-page":"7712","DOI":"10.1016\/S0021-9258(18)34440-5","article-title":"Eukaryotic ribosomal subunit anti-association activity of calf liver is contained in a single polypeptide chain protein of Mr = 25,500 (eukaryotic initiation factor 6)","volume":"257","author":"Valenzuela","year":"1982","journal-title":"J.\u00a0Biol. Chem."},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib169","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"},{"issue":"1","key":"10.1016\/j.jbior.2017.09.002_bib170","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1097\/RLU.0b013e3182335f1f","article-title":"Lymphoma in a case of Shwachman-Diamond syndrome: PET\/CT findings","volume":"37","author":"Verbrugge","year":"2012","journal-title":"Clin. Nucl. Med."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib171","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1093\/hmg\/ddp560","article-title":"Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for batten disease","volume":"19","author":"Vitiello","year":"2010","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib172","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1586\/17474086.2014.897923","article-title":"Diamond Blackfan anemia: a model for the translational approach to understanding human disease","volume":"7","author":"Vlachos","year":"2014","journal-title":"Expert Rev. Hematol."},{"issue":"16","key":"10.1016\/j.jbior.2017.09.002_bib173","doi-asserted-by":"crossref","first-page":"3815","DOI":"10.1182\/blood-2011-08-375972","article-title":"Incidence of neoplasia in diamond blackfan anemia: a report from the diamond blackfan anemia registry","volume":"119","author":"Vlachos","year":"2012","journal-title":"Blood"},{"issue":"6","key":"10.1016\/j.jbior.2017.09.002_bib174","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1111\/bjh.13229","article-title":"Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia","volume":"168","author":"Wang","year":"2015","journal-title":"Br. J. Haematol."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib175","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1002\/wrna.117","article-title":"The box C\/D and H\/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA","volume":"3","author":"Watkins","year":"2012","journal-title":"Wiley Interdiscip. Rev. RNA"},{"issue":"23","key":"10.1016\/j.jbior.2017.09.002_bib176","doi-asserted-by":"crossref","first-page":"11302","DOI":"10.1073\/pnas.89.23.11302","article-title":"Drosophila homolog of the human S6 ribosomal protein is required for tumor suppression in the hematopoietic system","volume":"89","author":"Watson","year":"1992","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"11","key":"10.1016\/j.jbior.2017.09.002_bib177","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":"Pt 2","key":"10.1016\/j.jbior.2017.09.002_bib178","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1242\/jcs.02753","article-title":"The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis","volume":"119","author":"Wessels","year":"2006","journal-title":"J.\u00a0Cell Sci."},{"issue":"9","key":"10.1016\/j.jbior.2017.09.002_bib179","doi-asserted-by":"crossref","first-page":"3802","DOI":"10.1128\/MCB.25.9.3802-3813.2005","article-title":"Defining the order in which Nmd3p and Rpl10p load onto nascent 60S ribosomal subunits","volume":"25","author":"West","year":"2005","journal-title":"Mol. Cell Biol."},{"issue":"10","key":"10.1016\/j.jbior.2017.09.002_bib180","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0077670","article-title":"p53-Mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American indian childhood cirrhosis","volume":"8","author":"Wilkins","year":"2013","journal-title":"Plos One"},{"issue":"16","key":"10.1016\/j.jbior.2017.09.002_bib181","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":"3","key":"10.1016\/j.jbior.2017.09.002_bib182","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1038\/ng906","article-title":"Large-scale prediction of Saccharomyces cerevisiae gene function using overlapping transcriptional clusters","volume":"31","author":"Wu","year":"2002","journal-title":"Nat. Genet."},{"issue":"7","key":"10.1016\/j.jbior.2017.09.002_bib183","doi-asserted-by":"crossref","first-page":"2387","DOI":"10.1093\/nar\/gkp1189","article-title":"The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase","volume":"38","author":"Wurm","year":"2010","journal-title":"Nucleic Acids Res."},{"issue":"16","key":"10.1016\/j.jbior.2017.09.002_bib184","doi-asserted-by":"crossref","first-page":"4809","DOI":"10.1093\/emboj\/17.16.4809","article-title":"Zuotin, a ribosome-associated DnaJ molecular chaperone","volume":"17","author":"Yan","year":"1998","journal-title":"EMBO J."},{"issue":"3","key":"10.1016\/j.jbior.2017.09.002_bib185","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/j.celrep.2013.09.029","article-title":"Poly(A)-specific ribonuclease mediates 3'-end trimming of Argonaute2-cleaved precursor microRNAs","volume":"5","author":"Yoda","year":"2013","journal-title":"Cell Rep."},{"issue":"5","key":"10.1016\/j.jbior.2017.09.002_bib186","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/j.stem.2016.08.021","article-title":"Mesenchymal inflammation drives genotoxic stress in hematopoietic stem cells and predicts disease evolution in human pre-leukemia","volume":"19","author":"Zambetti","year":"2016","journal-title":"Cell Stem Cell"},{"issue":"17","key":"10.1016\/j.jbior.2017.09.002_bib187","doi-asserted-by":"crossref","first-page":"6656","DOI":"10.1128\/MCB.00091-06","article-title":"Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality","volume":"26","author":"Zhang","year":"2006","journal-title":"Mol. Cell Biol."}],"container-title":["Advances in Biological Regulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2212492617301537?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2212492617301537?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T22:24:33Z","timestamp":1761949473000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2212492617301537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1]]},"references-count":187,"alternative-id":["S2212492617301537"],"URL":"https:\/\/doi.org\/10.1016\/j.jbior.2017.09.002","relation":{},"ISSN":["2212-4926"],"issn-type":[{"value":"2212-4926","type":"print"}],"subject":[],"published":{"date-parts":[[2018,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome","name":"articletitle","label":"Article Title"},{"value":"Advances in Biological Regulation","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jbior.2017.09.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Author. Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}