{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T15:11:10Z","timestamp":1767625870724},"reference-count":23,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medical Hypotheses"],"published-print":{"date-parts":[[2006,1]]},"DOI":"10.1016\/j.mehy.2005.09.010","type":"journal-article","created":{"date-parts":[[2005,10,21]],"date-time":"2005-10-21T11:13:45Z","timestamp":1129893225000},"page":"643-648","source":"Crossref","is-referenced-by-count":30,"title":["Diamond Blackfan anemia: A paradigm for a ribosome-based disease"],"prefix":"10.1016","volume":"66","author":[{"given":"Steven R.","family":"Ellis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy Tabb","family":"Massey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.mehy.2005.09.010_bib1","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1053\/beha.2000.0084","article-title":"Diamond-Blackfan anemia","volume":"3","author":"Freedman","year":"2000","journal-title":"Baillieres Clin Haematol"},{"key":"10.1016\/j.mehy.2005.09.010_bib2","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1097\/00062752-200003000-00003","article-title":"Diamond-Blackfan anemia","volume":"7","author":"Willig","year":"2000","journal-title":"Curr Opin Hematol"},{"key":"10.1016\/j.mehy.2005.09.010_bib3","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/5951","article-title":"The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anemia","volume":"21","author":"Draptchinskaia","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.mehy.2005.09.010_bib4","first-page":"4294","article-title":"Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression","volume":"94","author":"Willig","year":"1999","journal-title":"Blood"},{"key":"10.1016\/j.mehy.2005.09.010_bib5","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1365-2141.2004.05152.x","article-title":"RNA and protein evidence for haplo-insufficiency in Diamond Blackfan anemia patients with RPS19 mutations","volume":"127","author":"Gazda","year":"2004","journal-title":"Br J Haematol"},{"key":"10.1016\/j.mehy.2005.09.010_bib6","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1111\/j.1365-2141.2004.04890.x","article-title":"Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity","volume":"125","author":"Orfali","year":"2004","journal-title":"Br J Haematol"},{"key":"10.1016\/j.mehy.2005.09.010_bib7","doi-asserted-by":"crossref","unstructured":"Leger-Silvestre I, Caffrey JM, Dawaliby R, Alvarez-Arias DA, Gas N, Bertolone SJ, et al. Specific role for yeast homologs of the Diamond Blackfan anemia associated Rps19 protein in ribosome synthesis. J Biol Chem. Available online: 12th September, 2005.","DOI":"10.1074\/jbc.M506916200"},{"key":"10.1016\/j.mehy.2005.09.010_bib8","doi-asserted-by":"crossref","first-page":"4627","DOI":"10.1182\/blood-2004-08-3115","article-title":"Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blacks erythroid development and mimics defects seen in Diamond Blackfan anemia","volume":"105","author":"Flygare","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.mehy.2005.09.010_bib9","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1182\/blood-2004-03-1016","article-title":"Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect","volume":"105","author":"Ohene-Abuakwa","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.mehy.2005.09.010_bib10","first-page":"603","article-title":"A monocyte chemotactic factor, S19 ribosomal protein dimer, in phagocytic clearance of apoptotic cells","volume":"78","author":"Horino","year":"1998","journal-title":"Lab Invest"},{"key":"10.1016\/j.mehy.2005.09.010_bib11","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1126\/science.1079447","article-title":"Dyskeratosis congenita and cancer in mice deficient in rRNA processing","volume":"299","author":"Ruggero","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.mehy.2005.09.010_bib12","doi-asserted-by":"crossref","first-page":"10709","DOI":"10.1073\/pnas.0402492101","article-title":"The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interfering with upstream binding factor","volume":"101","author":"Valdez","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.mehy.2005.09.010_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"},{"key":"10.1016\/j.mehy.2005.09.010_bib14","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"},{"key":"10.1016\/j.mehy.2005.09.010_bib15","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1016\/j.biolcel.2004.04.015","article-title":"The nucleolus and transcription of ribosomal genes","volume":"96","author":"Raska","year":"2004","journal-title":"Biol Cell"},{"key":"10.1016\/j.mehy.2005.09.010_bib16","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1006\/geno.2000.6470","article-title":"A complete map of the human ribosomal protein genes: assignment of 80 genes to the cytogenetic map and implications for human disorders","volume":"72","author":"Uechi","year":"2001","journal-title":"Genomics"},{"key":"10.1016\/j.mehy.2005.09.010_bib17","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1471-2148-5-15","article-title":"The architecture of mammalian ribosomal protein promoters","volume":"5","author":"Perry","year":"2005","journal-title":"BMC Evol Biol"},{"key":"10.1016\/j.mehy.2005.09.010_bib18","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/1471-2202-3-3","article-title":"Nerve growth factor selectively regulates expression of transcripts encoding ribosomal proteins","volume":"3","author":"Angelastro","year":"2002","journal-title":"BMC Neurosci"},{"key":"10.1016\/j.mehy.2005.09.010_bib19","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1182\/blood-2002-04-1131","article-title":"Ribosomal protein S19 expression during erythroid differentiation","volume":"101","author":"Da Costa","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.mehy.2005.09.010_bib20","doi-asserted-by":"crossref","first-page":"6321","DOI":"10.1046\/j.1432-1327.2000.01719.x","article-title":"Synthesis of the translational apparatus is regulated at the translational level","volume":"267","author":"Meyuhas","year":"2000","journal-title":"Eur J Biochem"},{"key":"10.1016\/j.mehy.2005.09.010_bib21","series-title":"The Molecular and Cellular Biology of the Yeast Saccharomyces: Genome Dynamics, Protein Synthesis, and Energetics","first-page":"587","article-title":"The ribosome and its synthesis","author":"Woolford","year":"1991"},{"key":"10.1016\/j.mehy.2005.09.010_bib22","doi-asserted-by":"crossref","first-page":"4620","DOI":"10.1182\/blood-2004-08-3313","article-title":"An RNA interference model of RPS19 deficiency in Diamond- Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray","volume":"105","author":"Ebert","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.mehy.2005.09.010_bib23","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"}],"container-title":["Medical Hypotheses"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0306987705004731?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0306987705004731?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T12:29:07Z","timestamp":1586521747000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0306987705004731"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["S0306987705004731"],"URL":"https:\/\/doi.org\/10.1016\/j.mehy.2005.09.010","relation":{},"ISSN":["0306-9877"],"issn-type":[{"value":"0306-9877","type":"print"}],"subject":[],"published":{"date-parts":[[2006,1]]}}}