{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:42:42Z","timestamp":1791294162016,"version":"4.1.0"},"reference-count":40,"publisher":"American Society of Hematology","issue":"1","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2011,12,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mutations affecting genes encoding ribosomal proteins cause Diamond Blackfan anemia (DBA), a rare congenital syndrome associated with physical anomalies, short stature, red cell aplasia, and an increased risk of malignancy. p53 activation has been identified as a key component in the pathophysiology of DBA after cellular and molecular studies of knockdown cellular and animal models of DBA and other disorders affecting ribosomal assembly or function. Other potential mechanisms that warrant further investigation include impaired translation as the result of ribosomal insufficiency, which may be ameliorated by leucine supplementation, and alternative splicing leading to reduced expression of a cytoplasmic heme exporter, the human homolog of the receptor for feline leukemia virus C (FVLCR). However, the molecular basis for the characteristic steroid responsiveness of the erythroid failure in DBA remains unknown. This review explores the clinical and therapeutic implications of the current state of knowledge and delineates important but as-yet-unanswered questions.<\/jats:p>","DOI":"10.1182\/asheducation-2011.1.487","type":"journal-article","created":{"date-parts":[[2011,12,7]],"date-time":"2011-12-07T20:33:13Z","timestamp":1323289993000},"page":"487-491","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":61,"title":["Diamond Blackfan Anemia"],"prefix":"10.1182","volume":"2011","author":[{"given":"Sarah","family":"Ball","sequence":"first","affiliation":[{"name":"St George's University of London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2019111717004784100_B1","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"},{"key":"2019111717004784100_B2","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"},{"key":"2019111717004784100_B3","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1111\/j.1365-2141.2008.07269.x","article-title":"Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference","volume":"142","author":"Vlachos","year":"2008","journal-title":"Br J Haematol"},{"key":"2019111717004784100_B4","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1097\/00005792-199603000-00004","article-title":"Diamond-Blackfan anemia. 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