{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:54:09Z","timestamp":1791082449425,"version":"4.1.0"},"reference-count":159,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,3,25]],"date-time":"2025-03-25T00:00:00Z","timestamp":1742860800000},"content-version":"am","delay-in-days":328,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001665","name":"ANR","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Cells, Molecules, and Diseases"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1016\/j.bcmd.2024.102838","type":"journal-article","created":{"date-parts":[[2024,2,17]],"date-time":"2024-02-17T10:10:59Z","timestamp":1708164659000},"page":"102838","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"special_numbering":"C","title":["Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?"],"prefix":"10.1016","volume":"106","author":[{"given":"L.","family":"Da Costa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narla","family":"Mohandas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludivine","family":"David-NGuyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Platon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Marie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Fran\u00e7oise","family":"O'Donohue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Leblanc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Emmanuel","family":"Gleizes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"7","key":"10.1016\/j.bcmd.2024.102838_bb0005","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. Clin. Invest."},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0010","doi-asserted-by":"crossref","DOI":"10.3390\/genes13030447","article-title":"GATA-1 defects in Diamond-Blackfan Anemia: phenotypic characterization points to a specific subset of disease","volume":"13","author":"van Dooijeweert","year":"2022","journal-title":"Genes (Basel)"},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0015","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.ajhg.2018.07.020","article-title":"De novo mutations activating germline TP53 in an inherited bone-marrow-failure syndrome","volume":"103","author":"Toki","year":"2018","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.bcmd.2024.102838_bb0020","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1016\/j.cell.2017.02.026","article-title":"Functional selectivity in cytokine signaling revealed through a pathogenic EPO mutation","volume":"168","author":"Kim","year":"2017","journal-title":"Cell"},{"issue":"11","key":"10.1016\/j.bcmd.2024.102838_bb0025","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1182\/blood.2019000947","article-title":"Diamond-Blackfan anemia","volume":"136","author":"Da Costa","year":"2020","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2024.102838_bb0030","first-page":"7","article-title":"An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia","author":"Da Costa","year":"2018","journal-title":"F1000Res"},{"issue":"6","key":"10.1016\/j.bcmd.2024.102838_bb0035","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."},{"issue":"4","key":"10.1016\/j.bcmd.2024.102838_bb0040","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1111\/bjh.18091","article-title":"Fanconi anaemia: a syndrome with distinct subgroups","volume":"197","author":"Alter","year":"2022","journal-title":"Br. J. Haematol."},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0045","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1053\/j.seminhematol.2006.04.005","article-title":"Fanconi anemia","volume":"43","author":"Bagby","year":"2006","journal-title":"Semin. Hematol."},{"issue":"4","key":"10.1016\/j.bcmd.2024.102838_bb0050","doi-asserted-by":"crossref","first-page":"487","DOI":"10.3324\/haematol.13592","article-title":"Diagnosis of Fanconi anemia in patients with bone marrow failure","volume":"94","author":"Pinto","year":"2009","journal-title":"Haematologica"},{"key":"10.1016\/j.bcmd.2024.102838_bb0055","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1182\/asheducation-2011.1.492","article-title":"Fanconi anemia","volume":"2011","author":"Soulier","year":"2011","journal-title":"Hematology Am. Soc. Hematol. Educ. Program"},{"key":"10.1016\/j.bcmd.2024.102838_bb0060","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1182\/asheducation-2011.1.480","article-title":"Dyskeratosis congenita","volume":"2011","author":"Dokal","year":"2011","journal-title":"Hematology Am. Soc. Hematol. Educ. Program"},{"issue":"5","key":"10.1016\/j.bcmd.2024.102838_bb0065","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1111\/j.1365-2141.2011.08679.x","article-title":"Dyskeratosis congenita and the DNA damage response","volume":"153","author":"Kirwan","year":"2011","journal-title":"Br. J. Haematol."},{"issue":"12","key":"10.1016\/j.bcmd.2024.102838_bb0070","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1080\/17474086.2019.1662720","article-title":"An update on the biology and management of dyskeratosis congenita and related telomere biology disorders","volume":"12","author":"Niewisch","year":"2019","journal-title":"Expert Rev. Hematol."},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0075","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1002\/pbc.22061","article-title":"Dyskeratosis congenita: the first NIH clinical research workshop","volume":"53","author":"Savage","year":"2009","journal-title":"Pediatr. Blood Cancer"},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0080","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s40291-018-0368-2","article-title":"Shwachman-Diamond syndrome: molecular mechanisms and current perspectives","volume":"23","author":"Bezzerri","year":"2019","journal-title":"Mol. Diagn. Ther."},{"issue":"7","key":"10.1016\/j.bcmd.2024.102838_bb0085","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1002\/pbc.20478","article-title":"Shwachman-Diamond syndrome","volume":"45","author":"Dror","year":"2005","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.bcmd.2024.102838_bb0090","unstructured":"Nelson A, Myers K. Shwachman-Diamond Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews((R)). Seattle (WA); 1993."},{"key":"10.1016\/j.bcmd.2024.102838_bb0095","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":"4","key":"10.1016\/j.bcmd.2024.102838_bb0100","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1016\/j.jpeds.2012.09.050","article-title":"Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation","volume":"162","author":"Taskinen","year":"2013","journal-title":"J. Pediatr."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0105","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1136\/jmedgenet-2019-106131","article-title":"\u2018Metaphyseal dysplasia without hypotrichosis\u2019 can present with late-onset extraskeletal manifestations","volume":"57","author":"Vakkilainen","year":"2020","journal-title":"J. Med. Genet."},{"issue":"5","key":"10.1016\/j.bcmd.2024.102838_bb0110","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1203\/00006450-199911000-00011","volume":"46","author":"Willig","year":"1999","journal-title":"Pediatr. Res."},{"issue":"9","key":"10.1016\/j.bcmd.2024.102838_bb0115","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1182\/blood-2010-07-295238","article-title":"Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells","volume":"117","author":"Dutt","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2024.102838_bb0120","doi-asserted-by":"crossref","DOI":"10.1038\/cddis.2012.88","article-title":"Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro","volume":"3","author":"Moniz","year":"2012","journal-title":"Cell Death Dis."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0125","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.stem.2012.05.013","article-title":"Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53\/p21 DNA damage response that impairs hematopoietic stem and progenitor cells","volume":"11","author":"Ceccaldi","year":"2012","journal-title":"Cell Stem Cell"},{"issue":"5","key":"10.1016\/j.bcmd.2024.102838_bb0130","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1111\/j.1365-2141.2010.08535.x","article-title":"Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia","volume":"152","author":"Torihara","year":"2011","journal-title":"Br. J. Haematol."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0135","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1182\/asheducation-2017.1.88","article-title":"Inherited bone marrow failure syndromes: considerations pre- and posttransplant","volume":"2017","author":"Alter","year":"2017","journal-title":"Hematology Am. Soc. Hematol. Educ. Program"},{"issue":"8","key":"10.1016\/j.bcmd.2024.102838_bb0140","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1182\/bloodadvances.2019001210","article-title":"Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia","volume":"4","author":"Strahm","year":"2020","journal-title":"Blood Adv."},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0145","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1182\/blood-2014-10-605113","article-title":"HLA-matched related-donor HSCT in Fanconi anemia patients conditioned with cyclophosphamide and fludarabine","volume":"125","author":"Benajiba","year":"2015","journal-title":"Blood"},{"issue":"8","key":"10.1016\/j.bcmd.2024.102838_bb0150","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1016\/j.bbmt.2013.05.021","article-title":"Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita","volume":"19","author":"Gadalla","year":"2013","journal-title":"Biol. Blood Marrow Transplant."},{"issue":"26","key":"10.1016\/j.bcmd.2024.102838_bb0155","doi-asserted-by":"crossref","first-page":"4279","DOI":"10.1182\/blood-2013-01-479733","article-title":"Allogeneic hematopoietic stem cell transplantation in Fanconi anemia: the European Group for Blood and Marrow Transplantation experience","volume":"122","author":"Peffault de Latour","year":"2013","journal-title":"Blood"},{"issue":"9","key":"10.1016\/j.bcmd.2024.102838_bb0160","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1038\/sj.bmt.1705141","article-title":"Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry","volume":"36","author":"Donadieu","year":"2005","journal-title":"Bone Marrow Transplant."},{"issue":"6","key":"10.1016\/j.bcmd.2024.102838_bb0165","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1002\/ijc.28157","article-title":"Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus","volume":"133","author":"Alter","year":"2013","journal-title":"Int. J. Cancer"},{"issue":"26","key":"10.1016\/j.bcmd.2024.102838_bb0170","doi-asserted-by":"crossref","first-page":"6549","DOI":"10.1182\/blood-2008-12-192880","article-title":"Cancer in dyskeratosis congenita","volume":"113","author":"Alter","year":"2009","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0175","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1002\/pbc.25303","article-title":"Fanconi anemia and solid malignancies in childhood: a national retrospective study","volume":"62","author":"Malric","year":"2015","journal-title":"Pediatr. Blood Cancer"},{"issue":"24","key":"10.1016\/j.bcmd.2024.102838_bb0180","doi-asserted-by":"crossref","first-page":"2971","DOI":"10.1182\/blood-2016-01-583625","article-title":"How I treat MDS and AML in Fanconi anemia","volume":"127","author":"Peffault de Latour","year":"2016","journal-title":"Blood"},{"issue":"22","key":"10.1016\/j.bcmd.2024.102838_bb0185","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1093\/jnci\/djn366","article-title":"Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients","volume":"100","author":"van Zeeburg","year":"2008","journal-title":"J. Natl. Cancer Inst."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0190","doi-asserted-by":"crossref","first-page":"30","DOI":"10.3324\/haematol.2017.178111","article-title":"Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up","volume":"103","author":"Alter","year":"2018","journal-title":"Haematologica"},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0195","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1097\/00043426-200101000-00009","article-title":"Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia registry","volume":"23","author":"Lipton","year":"2001","journal-title":"J. Pediatr. Hematol. Oncol."},{"issue":"8","key":"10.1016\/j.bcmd.2024.102838_bb0200","doi-asserted-by":"crossref","DOI":"10.1002\/pbc.28984","article-title":"Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: preliminary recommendations from the Diamond Blackfan Anemia registry","volume":"68","author":"Lipton","year":"2021","journal-title":"Pediatr. Blood Cancer"},{"issue":"20","key":"10.1016\/j.bcmd.2024.102838_bb0205","doi-asserted-by":"crossref","first-page":"2205","DOI":"10.1182\/blood-2018-05-848937","article-title":"Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia","volume":"132","author":"Vlachos","year":"2018","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0210","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1182\/blood-2006-07-038372","article-title":"Impaired ribosome biogenesis in Diamond-Blackfan anemia","volume":"109","author":"Choesmel","year":"2007","journal-title":"Blood"},{"issue":"46","key":"10.1016\/j.bcmd.2024.102838_bb0215","doi-asserted-by":"crossref","first-page":"38177","DOI":"10.1074\/jbc.M506916200","article-title":"Specific role for yeast homologs of the Diamond Blackfan Anemia-associated Rps19 protein in ribosome synthesis","volume":"280","author":"Leger-Silvestre","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bcmd.2024.102838_bb0220","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.jbior.2017.09.002","article-title":"Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome","volume":"67","author":"Warren","year":"2018","journal-title":"Adv. Biol. Regul."},{"issue":"9","key":"10.1016\/j.bcmd.2024.102838_bb0225","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":"10.1016\/j.bcmd.2024.102838_bb0230","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":"1","key":"10.1016\/j.bcmd.2024.102838_bb0235","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/00008480-200402000-00006","article-title":"Dyskeratosis congenita and telomerase","volume":"16","author":"Bessler","year":"2004","journal-title":"Curr. Opin. Pediatr."},{"issue":"5","key":"10.1016\/j.bcmd.2024.102838_bb0240","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0127414","article-title":"Impaired telomere maintenance and decreased canonical WNT signaling but Normal ribosome biogenesis in induced pluripotent stem cells from X-linked Dyskeratosis Congenita patients","volume":"10","author":"Gu","year":"2015","journal-title":"PLoS One"},{"issue":"12","key":"10.1016\/j.bcmd.2024.102838_bb0245","doi-asserted-by":"crossref","first-page":"1698","DOI":"10.1002\/humu.22447","article-title":"Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation","volume":"34","author":"Thumati","year":"2013","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0250","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1182\/hematology.2022000394","article-title":"Dyskeratosis congenita and telomere biology disorders","volume":"2022","author":"Savage","year":"2022","journal-title":"Hematology Am. Soc. Hematol. Educ. Program"},{"issue":"20","key":"10.1016\/j.bcmd.2024.102838_bb0255","doi-asserted-by":"crossref","first-page":"2253","DOI":"10.1093\/hmg\/10.20.2253","article-title":"Fanconi anemia and DNA repair","volume":"10","author":"Grompe","year":"2001","journal-title":"Hum. Mol. Genet."},{"issue":"18","key":"10.1016\/j.bcmd.2024.102838_bb0260","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1182\/blood-2014-04-526293","article-title":"Stress and DNA repair biology of the Fanconi anemia pathway","volume":"124","author":"Longerich","year":"2014","journal-title":"Blood"},{"issue":"7","key":"10.1016\/j.bcmd.2024.102838_bb0265","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/j.dnarep.2007.02.002","article-title":"Fanconi anemia and DNA replication repair","volume":"6","author":"Patel","year":"2007","journal-title":"DNA Repair (Amst)"},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0270","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"},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0275","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0089098","article-title":"p53-independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5","volume":"9","author":"Singh","year":"2014","journal-title":"PLoS One"},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0280","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.gene.2014.04.077","article-title":"Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia","volume":"545","author":"Aspesi","year":"2014","journal-title":"Gene"},{"issue":"21","key":"10.1016\/j.bcmd.2024.102838_bb0285","doi-asserted-by":"crossref","first-page":"3111","DOI":"10.1182\/blood.2021011846","article-title":"HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia","volume":"139","author":"O\u2019Donohue","year":"2022","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2024.102838_bb0290","article-title":"Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia","volume":"13(610):eabf0113","author":"Iskander","year":"2021","journal-title":"Sci. Transl. Med."},{"issue":"22","key":"10.1016\/j.bcmd.2024.102838_bb0295","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1182\/bloodadvances.2017008078","article-title":"The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70","volume":"1","author":"Gastou","year":"2017","journal-title":"Blood Adv."},{"issue":"12","key":"10.1016\/j.bcmd.2024.102838_bb0300","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1182\/blood-2018-09-875674","article-title":"Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70\/GATA1","volume":"133","author":"Rio","year":"2019","journal-title":"Blood"},{"issue":"16","key":"10.1016\/j.bcmd.2024.102838_bb0305","doi-asserted-by":"crossref","first-page":"2534","DOI":"10.1182\/blood.2021013753","article-title":"A congenital Anemia reveals distinct targeting mechanisms for master transcription factor GATA1","volume":"139","author":"Ludwig","year":"2022","journal-title":"Blood"},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0310","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.1365-2141.1988.tb06184.x","article-title":"Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases","volume":"68","author":"Glader","year":"1988","journal-title":"Br. J. Haematol."},{"issue":"12","key":"10.1016\/j.bcmd.2024.102838_bb0315","doi-asserted-by":"crossref","first-page":"E501","DOI":"10.1002\/ajh.24541","article-title":"Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome","volume":"91","author":"Narla","year":"2016","journal-title":"Am. J. Hematol."},{"issue":"11","key":"10.1016\/j.bcmd.2024.102838_bb0320","first-page":"4422","article-title":"High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA working Group of Societe d\u2019Immunologie Pediatrique (SHIP)","volume":"92","author":"Willig","year":"1998","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.bcmd.2024.102838_bb0325","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1111\/bjh.12167","article-title":"Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia","volume":"160","author":"Fargo","year":"2013","journal-title":"Br. J. Haematol."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0330","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1046\/j.1365-2141.2002.03776.x","article-title":"Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene","volume":"119","author":"Gustavsson","year":"2002","journal-title":"Br. J. Haematol."},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0335","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.tracli.2010.06.001","article-title":"Diamond-Blackfan anemia, ribosome and erythropoiesis","volume":"17","author":"Da Costa","year":"2010","journal-title":"Transfus. Clin. Biol."},{"issue":"16","key":"10.1016\/j.bcmd.2024.102838_bb0340","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":"2","key":"10.1016\/j.bcmd.2024.102838_bb0345","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":"2014","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0350","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1093\/nar\/gkt1107","article-title":"Eukaryotic rpL10 drives ribosomal rotation","volume":"42","author":"Sulima","year":"2014","journal-title":"Nucleic Acids Res."},{"issue":"11","key":"10.1016\/j.bcmd.2024.102838_bb0355","doi-asserted-by":"crossref","first-page":"3387","DOI":"10.1158\/0008-5472.CAN-15-2698","article-title":"Ribosomal protein Rpl22 controls the dissemination of T-cell lymphoma","volume":"76","author":"Rao","year":"2016","journal-title":"Cancer Res."},{"issue":"13","key":"10.1016\/j.bcmd.2024.102838_bb0360","doi-asserted-by":"crossref","first-page":"2788","DOI":"10.1182\/bloodadvances.2020001717","article-title":"RPS15 mutations rewire RNA translation in chronic lymphocytic leukemia","volume":"5","author":"Ntoufa","year":"2021","journal-title":"Blood Adv."},{"issue":"7176","key":"10.1016\/j.bcmd.2024.102838_bb0365","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":"4","key":"10.1016\/j.bcmd.2024.102838_bb0370","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1016\/j.bbrc.2014.03.086","article-title":"RPS27a promotes proliferation, regulates cell cycle progression and inhibits apoptosis of leukemia cells","volume":"446","author":"Wang","year":"2014","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0375","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.gene.2015.01.014","article-title":"DNA damage stress induces the expression of ribosomal protein S27a gene in a p53-dependent manner","volume":"559","author":"Nosrati","year":"2015","journal-title":"Gene"},{"issue":"23","key":"10.1016\/j.bcmd.2024.102838_bb0380","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1182\/blood.2019004121","article-title":"Site-specific methylation of 18S ribosomal RNA by SNORD42A is required for acute myeloid leukemia cell proliferation","volume":"135","author":"Pauli","year":"2020","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.bcmd.2024.102838_bb0385","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.3324\/haematol.2008.000513","article-title":"Diamond-Blackfan anemia: a ribosomal puzzle","volume":"93","author":"Dianzani","year":"2008","journal-title":"Haematologica"},{"issue":"6","key":"10.1016\/j.bcmd.2024.102838_bb0390","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/j.ajhg.2018.10.027","article-title":"The genetic landscape of Diamond-Blackfan Anemia","volume":"103","author":"Ulirsch","year":"2018","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.bcmd.2024.102838_bb0395","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1111\/bjh.12919","article-title":"Recurrent GATA1 mutations in Diamond-Blackfan anaemia","volume":"166","author":"Klar","year":"2014","journal-title":"Br. J. Haematol."},{"issue":"7","key":"10.1016\/j.bcmd.2024.102838_bb0400","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1002\/pbc.24944","article-title":"Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype","volume":"61","author":"Parrella","year":"2014","journal-title":"Pediatr. Blood Cancer"},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0405","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":"2","key":"10.1016\/j.bcmd.2024.102838_bb0410","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":"6","key":"10.1016\/j.bcmd.2024.102838_bb0415","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":"5","key":"10.1016\/j.bcmd.2024.102838_bb0420","first-page":"1582","article-title":"Abnormalities of the large ribosomal subunit protein, Rpl35a","volume":"112","author":"Farrar","year":"2008","journal-title":"Diamond-Blackfan anemia. Blood"},{"issue":"6","key":"10.1016\/j.bcmd.2024.102838_bb0425","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":"12","key":"10.1016\/j.bcmd.2024.102838_bb0430","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":"1","key":"10.1016\/j.bcmd.2024.102838_bb0435","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1111\/cge.14221","article-title":"Splice-site variant in the RPS7 5\u2019-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia","volume":"103","author":"Skorodumova","year":"2023","journal-title":"Clin. Genet."},{"issue":"11","key":"10.1016\/j.bcmd.2024.102838_bb0440","doi-asserted-by":"crossref","first-page":"1918","DOI":"10.1002\/humu.24092","article-title":"Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia","volume":"41","author":"Bhar","year":"2020","journal-title":"Hum. Mutat."},{"issue":"6","key":"10.1016\/j.bcmd.2024.102838_bb0445","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":"9","key":"10.1016\/j.bcmd.2024.102838_bb0450","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":"1","key":"10.1016\/j.bcmd.2024.102838_bb0455","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"},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0460","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/humu.24323","article-title":"Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype","volume":"43","author":"Lebaron","year":"2022","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0465","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1093\/nar\/gkz1042","article-title":"Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism","volume":"48","author":"Lezzerini","year":"2020","journal-title":"Nucleic Acids Res."},{"issue":"6","key":"10.1016\/j.bcmd.2024.102838_bb0470","doi-asserted-by":"crossref","first-page":"949","DOI":"10.3324\/haematol.2017.177980","article-title":"Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia","volume":"103","author":"Wlodarski","year":"2018","journal-title":"Haematologica"},{"issue":"7","key":"10.1016\/j.bcmd.2024.102838_bb0475","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":"26","key":"10.1016\/j.bcmd.2024.102838_bb0480","doi-asserted-by":"crossref","first-page":"6943","DOI":"10.1182\/blood-2011-08-375170","article-title":"Ribosomal protein gene deletions in Diamond-Blackfan anemia","volume":"118","author":"Farrar","year":"2011","journal-title":"Blood"},{"issue":"10","key":"10.1016\/j.bcmd.2024.102838_bb0485","doi-asserted-by":"crossref","first-page":"2376","DOI":"10.1182\/blood-2011-07-368662","article-title":"Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia","volume":"119","author":"Kuramitsu","year":"2012","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0490","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1002\/humu.20874","article-title":"Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia","volume":"30","author":"Cmejla","year":"2009","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.bcmd.2024.102838_bb0495","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.117.002044","article-title":"Increased prevalence of congenital heart disease in children with Diamond Blackfan Anemia suggests unrecognized Diamond Blackfan Anemia as a cause of congenital heart disease in the general population: a report of the Diamond Blackfan Anemia registry","volume":"11","author":"Vlachos","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"issue":"7","key":"10.1016\/j.bcmd.2024.102838_bb0500","doi-asserted-by":"crossref","first-page":"2346","DOI":"10.1172\/JCI63989","article-title":"What\u2019s in a name?","volume":"122","author":"Weiss","year":"2012","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bcmd.2024.102838_bb0505","doi-asserted-by":"crossref","first-page":"282","DOI":"10.3389\/fped.2018.00282","article-title":"Vasculopathy, immunodeficiency, and bone marrow failure: the intriguing syndrome caused by deficiency of adenosine deaminase 2","volume":"6","author":"Lee","year":"2018","journal-title":"Front. Pediatr."},{"issue":"4","key":"10.1016\/j.bcmd.2024.102838_bb0510","doi-asserted-by":"crossref","DOI":"10.1002\/pbc.29558","article-title":"De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia","volume":"69","author":"Fedorova","year":"2022","journal-title":"Pediatr. Blood Cancer"},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0515","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1053\/j.seminhematol.2011.01.004","article-title":"Diamond Blackfan anemia treatment: past, present, and future","volume":"48","author":"Narla","year":"2011","journal-title":"Semin. Hematol."},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0520","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1093\/emboj\/16.2.267","article-title":"The glucocorticoid receptor is a key regulator of the decision between self-renewal and differentiation in erythroid progenitors","volume":"16","author":"Wessely","year":"1997","journal-title":"EMBO J."},{"issue":"22","key":"10.1016\/j.bcmd.2024.102838_bb0525","doi-asserted-by":"crossref","first-page":"2996","DOI":"10.1101\/gad.13.22.2996","article-title":"The glucocorticoid receptor is required for stress erythropoiesis","volume":"13","author":"Bauer","year":"1999","journal-title":"Genes Dev."},{"issue":"4","key":"10.1016\/j.bcmd.2024.102838_bb0530","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1172\/JCI132284","article-title":"Steroid resistance in Diamond Blackfan anemia associates with p57Kip2 dysregulation in erythroid progenitors","volume":"130","author":"Ashley","year":"2020","journal-title":"J. Clin. Invest."},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0535","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/bjh.15915","article-title":"Impaired cellular and humoral immunity is a feature of Diamond-Blackfan anaemia; experience of 107 unselected cases in the United Kingdom","volume":"186","author":"Iskander","year":"2019","journal-title":"Br. J. Haematol."},{"issue":"18","key":"10.1016\/j.bcmd.2024.102838_bb0540","doi-asserted-by":"crossref","first-page":"2367","DOI":"10.1101\/gad.202201","article-title":"Ligand-dependent interaction of the glucocorticoid receptor with p53 enhances their degradation by Hdm2","volume":"15","author":"Sengupta","year":"2001","journal-title":"Genes Dev."},{"issue":"4","key":"10.1016\/j.bcmd.2024.102838_bb0545","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1111\/bjh.13632","article-title":"Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia","volume":"171","author":"Sjogren","year":"2015","journal-title":"Br. J. Haematol."},{"issue":"16","key":"10.1016\/j.bcmd.2024.102838_bb0550","doi-asserted-by":"crossref","first-page":"2553","DOI":"10.1182\/blood-2014-10-608042","article-title":"Elucidation of the EP defect in Diamond-Blackfan anemia by characterization and prospective isolation of human EPs","volume":"125","author":"Iskander","year":"2015","journal-title":"Blood"},{"issue":"1\u20136","key":"10.1016\/j.bcmd.2024.102838_bb0555","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/S0960-0760(99)00041-2","article-title":"Mutagenesis of the glucocorticoid receptor in mice","volume":"69","author":"Kellendonk","year":"1999","journal-title":"J. Steroid Biochem. Mol. Biol."},{"issue":"7456","key":"10.1016\/j.bcmd.2024.102838_bb0560","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/nature12215","article-title":"ZFP36L2 is required for self-renewal of early burst-forming unit erythroid progenitors","volume":"499","author":"Zhang","year":"2013","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0565","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1182\/blood.V94.2.550","article-title":"The glucocorticoid receptor cooperates with the erythropoietin receptor and c-kit to enhance and sustain proliferation of erythroid progenitors in vitro","volume":"94","author":"von Lindern","year":"1999","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.bcmd.2024.102838_bb0570","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. Pediatr."},{"key":"10.1016\/j.bcmd.2024.102838_bb0575","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":"Boocok","year":"2003","journal-title":"Nat. Genet."},{"issue":"6","key":"10.1016\/j.bcmd.2024.102838_bb0580","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1182\/blood.2020006481","article-title":"Inherited bone marrow failure in the pediatric patient","volume":"140","author":"Dokal","year":"2022","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2024.102838_bb0585","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. Pediatr."},{"issue":"9","key":"10.1016\/j.bcmd.2024.102838_bb0590","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":"6","key":"10.1016\/j.bcmd.2024.102838_bb0595","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":"11","key":"10.1016\/j.bcmd.2024.102838_bb0600","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":"6966","key":"10.1016\/j.bcmd.2024.102838_bb0605","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":"3","key":"10.1016\/j.bcmd.2024.102838_bb0610","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1111\/bjh.15594","article-title":"Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond syndrome carrying biallelic SBDS mutations","volume":"185","author":"Morini","year":"2019","journal-title":"Br. J. Haematol."},{"issue":"8","key":"10.1016\/j.bcmd.2024.102838_bb0615","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. Med. Genet."},{"issue":"11","key":"10.1016\/j.bcmd.2024.102838_bb0620","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":"1","key":"10.1016\/j.bcmd.2024.102838_bb0625","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":"10.1016\/j.bcmd.2024.102838_bb0630","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":"6","key":"10.1016\/j.bcmd.2024.102838_bb0635","doi-asserted-by":"crossref","first-page":"3184","DOI":"10.1093\/nar\/gky1324","article-title":"Reconstitution of the human SRP system and quantitative and systematic analysis of its ribosome interactions","volume":"47","author":"Wild","year":"2019","journal-title":"Nucleic Acids Res."},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0640","doi-asserted-by":"crossref","first-page":"746","DOI":"10.3324\/haematol.2019.239970","article-title":"Integrated analyses of translatome and proteome identify the rules of translation selectivity in RPS14-deficient cells","volume":"106","author":"Boussaid","year":"2021","journal-title":"Haematologica"},{"issue":"9","key":"10.1016\/j.bcmd.2024.102838_bb0645","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":"1","key":"10.1016\/j.bcmd.2024.102838_bb0650","doi-asserted-by":"crossref","first-page":"5044","DOI":"10.1038\/s41467-021-24999-5","article-title":"Somatic genetic rescue of a germline ribosome assembly defect","volume":"12","author":"Tan","year":"2021","journal-title":"Nat. Commun."},{"issue":"10","key":"10.1016\/j.bcmd.2024.102838_bb0655","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1038\/s41576-019-0139-x","article-title":"Somatic genetic rescue in Mendelian haematopoietic diseases","volume":"20","author":"Revy","year":"2019","journal-title":"Nat. Rev. Genet."},{"issue":"5","key":"10.1016\/j.bcmd.2024.102838_bb0660","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1111\/bjh.15688","article-title":"Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation","volume":"185","author":"Garelli","year":"2019","journal-title":"Br. J. Haematol."},{"issue":"7","key":"10.1016\/j.bcmd.2024.102838_bb0665","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.201810201","article-title":"Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models","volume":"11","author":"Benyelles","year":"2019","journal-title":"EMBO Mol. Med."},{"issue":"6","key":"10.1016\/j.bcmd.2024.102838_bb0670","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1093\/hmg\/ddaa011","article-title":"NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Hoyeraal-Hreidarsson syndrome","volume":"29","author":"Benyelles","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bcmd.2024.102838_bb0675","unstructured":"Savage SA. Dyskeratosis Congenita. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews((R)). Seattle (WA); 1993."},{"issue":"5","key":"10.1016\/j.bcmd.2024.102838_bb0680","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. Clin. Invest."},{"issue":"4","key":"10.1016\/j.bcmd.2024.102838_bb0685","doi-asserted-by":"crossref","DOI":"10.1038\/ejhg.2014.170","article-title":"Clinical utility gene card for: Dyskeratosis congenita - update 2015","volume":"23","author":"Dokal","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.bcmd.2024.102838_bb0690","doi-asserted-by":"crossref","unstructured":"Touzot F, Gaillard L, Vasquez N, et al. Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. J. Allergy Clin. Immunol. 2012;129(2):473\u2013482, 482 e471\u2013473.","DOI":"10.1016\/j.jaci.2011.09.043"},{"issue":"4","key":"10.1016\/j.bcmd.2024.102838_bb0695","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1016\/j.molcel.2011.09.017","article-title":"rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells","volume":"44","author":"Jack","year":"2011","journal-title":"Mol. Cell"},{"issue":"20","key":"10.1016\/j.bcmd.2024.102838_bb0700","doi-asserted-by":"crossref","first-page":"2848","DOI":"10.1101\/gad.1476206","article-title":"Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita","volume":"20","author":"Wong","year":"2006","journal-title":"Genes Dev."},{"key":"10.1016\/j.bcmd.2024.102838_bb0705","first-page":"285","article-title":"Cartilage-hair hypoplasia","volume":"116","author":"McKusick","year":"1965","journal-title":"Bull. Johns Hopkins Hosp."},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0710","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":"3","key":"10.1016\/j.bcmd.2024.102838_bb0715","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1086\/521034","article-title":"Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum","volume":"81","author":"Thiel","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0720","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."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0725","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41467-022-28295-8","article-title":"A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis","volume":"13","author":"Robertson","year":"2022","journal-title":"Nat. Commun."},{"issue":"5","key":"10.1016\/j.bcmd.2024.102838_bb0730","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1136\/jmedgenet-2016-104279","article-title":"Decreased telomere length in children with cartilage-hair hypoplasia","volume":"54","author":"Kostjukovits","year":"2017","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0735","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/s41439-021-00168-4","article-title":"Identification of three novel TCOF1 mutations in patients with Treacher Collins syndrome","volume":"8","author":"Marszalek-Kruk","year":"2021","journal-title":"Hum Genome Var."},{"issue":"9","key":"10.1016\/j.bcmd.2024.102838_bb0740","article-title":"Treacher Collins syndrome: genetics","volume":"12","author":"Marszalek-Kruk","year":"2021","journal-title":"clinical features and management. Genes (Basel)"},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0745","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.bcmd.2024.102838_bb0750","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/s41436-019-0669-9","article-title":"POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4","volume":"22","author":"Sanchez","year":"2020","journal-title":"Genet. Med."},{"issue":"31","key":"10.1016\/j.bcmd.2024.102838_bb0755","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2116974119","article-title":"Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development","volume":"119","author":"Falcon","year":"2022","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"2","key":"10.1016\/j.bcmd.2024.102838_bb0760","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/nm1725","article-title":"Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function","volume":"14","author":"Jones","year":"2008","journal-title":"Nat. Med."},{"issue":"5","key":"10.1016\/j.bcmd.2024.102838_bb0765","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1016\/j.ajhg.2019.09.024","article-title":"RPL13 variants cause Spondyloepimetaphyseal dysplasia with severe short stature","volume":"105","author":"Le Caignec","year":"2019","journal-title":"Am. J. Hum. Genet."},{"issue":"6135","key":"10.1016\/j.bcmd.2024.102838_bb0770","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":"2","key":"10.1016\/j.bcmd.2024.102838_bb0775","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/jbmr.4177","article-title":"Novel RPL13 variants and variable clinical expressivity in a human Ribosomopathy with Spondyloepimetaphyseal dysplasia","volume":"36","author":"Costantini","year":"2021","journal-title":"J. Bone Miner. Res."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102838_bb0780","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1111\/cge.14351","article-title":"Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: description of 11 further cases","volume":"104","author":"Diaz-Gonzalez","year":"2023","journal-title":"Clin. Genet."},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0785","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.ajhg.2017.01.034","article-title":"A Ribosomopathy reveals decoding defective ribosomes driving human Dysmorphism","volume":"100","author":"Paolini","year":"2017","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.bcmd.2024.102838_bb0790","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":"10","key":"10.1016\/j.bcmd.2024.102838_bb0795","doi-asserted-by":"crossref","first-page":"2652","DOI":"10.3324\/haematol.2022.282418","article-title":"Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia","volume":"108","author":"Lasaga","year":"2023","journal-title":"Haematologica"}],"container-title":["Blood Cells, Molecules, and Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979624000160?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979624000160?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T16:33:16Z","timestamp":1711384396000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1079979624000160"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":159,"alternative-id":["S1079979624000160"],"URL":"https:\/\/doi.org\/10.1016\/j.bcmd.2024.102838","relation":{},"ISSN":["1079-9796"],"issn-type":[{"value":"1079-9796","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?","name":"articletitle","label":"Article Title"},{"value":"Blood Cells, Molecules, and Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bcmd.2024.102838","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"102838"}}