{"id":"https://openalex.org/W2085280576","doi":"https://doi.org/10.1182/blood-2011-06-358200","title":"Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts","display_name":"Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts","publication_year":2011,"publication_date":"2011-11-04","ids":{"openalex":"https://openalex.org/W2085280576","doi":"https://doi.org/10.1182/blood-2011-06-358200","mag":"2085280576","pmid":"https://pubmed.ncbi.nlm.nih.gov/22058113"},"language":"en","primary_location":{"id":"doi:10.1182/blood-2011-06-358200","doi":"https://doi.org/10.1182/blood-2011-06-358200","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2011-06-358200","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5069138110","display_name":"Rastislav Horos","orcid":"https://orcid.org/0000-0001-7730-9557","observed_orcids":["https://orcid.org/0000-0001-7730-9557"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Rastislav Horos","raw_affiliation_strings":["Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076842465","display_name":"Hanna IJspeert","orcid":"https://orcid.org/0000-0002-7061-5321","observed_orcids":["https://orcid.org/0000-0002-7061-5321"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Hanna IJspeert","raw_affiliation_strings":["Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108063291","display_name":"Dagmar Posp\u0131\u0301\u0161ilov\u00e1","orcid":"https://orcid.org/0000-0002-2974-9205","observed_orcids":["https://orcid.org/0000-0002-2974-9205"]},"institutions":[{"id":"https://openalex.org/I4210107161","display_name":"University Hospital Olomouc","ror":"https://ror.org/01jxtne23","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210107161"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Dagmar Pospisilova","raw_affiliation_strings":["Department of Pediatrics, Palacky University Hospital, Olomouc, Czech Republic;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Palacky University Hospital, Olomouc, Czech Republic;","institution_ids":["https://openalex.org/I4210107161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006245731","display_name":"Regine Sendtner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126310","display_name":"Universit\u00e4tsklinikum W\u00fcrzburg","ror":"https://ror.org/03pvr2g57","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210126310"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Regine Sendtner","raw_affiliation_strings":["Neurology Institute, W\u00fcrzburg University Hospital, W\u00fcrzburg, Germany;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology Institute, W\u00fcrzburg University Hospital, W\u00fcrzburg, Germany;","institution_ids":["https://openalex.org/I4210126310"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089210002","display_name":"Charlotte Andrieu\u2010Soler","orcid":"https://orcid.org/0000-0002-3287-6117","observed_orcids":["https://orcid.org/0000-0002-3287-6117"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["FR","NL"],"is_corresponding":false,"raw_author_name":"Charlotte Andrieu-Soler","raw_affiliation_strings":["Department of Cell Biology, Erasmus University Medical Center, Rotterdam, The Netherlands;","Inserm U872, Physiopathology of Ocular Diseases: Therapeutic Innovations, Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell Biology, Erasmus University Medical Center, Rotterdam, The Netherlands;","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Inserm U872, Physiopathology of Ocular Diseases: Therapeutic Innovations, Paris, France;","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003404072","display_name":"Erdogan Taskesen","orcid":"https://orcid.org/0000-0002-3430-9618","observed_orcids":["https://orcid.org/0000-0002-3430-9618"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Erdogan Taskesen","raw_affiliation_strings":["Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079079567","display_name":"Andrzej Nieradka","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Andrzej Nieradka","raw_affiliation_strings":["Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080165235","display_name":"Radek \u010cmejla","orcid":"https://orcid.org/0000-0002-0707-8850","observed_orcids":["https://orcid.org/0000-0002-0707-8850"]},"institutions":[{"id":"https://openalex.org/I4210096318","display_name":"Institute of Haematology and Blood Transfusion","ror":"https://ror.org/00n6rde07","country_code":"CZ","type":"facility","lineage":["https://openalex.org/I4210096318"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Radek Cmejla","raw_affiliation_strings":["Department of Cell Physiology, Institute of Hematology and Blood Transfusion, Prague, Czech Republic; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell Physiology, Institute of Hematology and Blood Transfusion, Prague, Czech Republic; and","institution_ids":["https://openalex.org/I4210096318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022587380","display_name":"Michael Sendtner","orcid":"https://orcid.org/0000-0002-4737-2974","observed_orcids":["https://orcid.org/0000-0002-4737-2974"]},"institutions":[{"id":"https://openalex.org/I4210126310","display_name":"Universit\u00e4tsklinikum W\u00fcrzburg","ror":"https://ror.org/03pvr2g57","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210126310"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Michael Sendtner","raw_affiliation_strings":["Neurology Institute, W\u00fcrzburg University Hospital, W\u00fcrzburg, Germany;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology Institute, W\u00fcrzburg University Hospital, W\u00fcrzburg, Germany;","institution_ids":["https://openalex.org/I4210126310"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019814633","display_name":"Ivo P. Touw","orcid":"https://orcid.org/0000-0002-4773-4074","observed_orcids":["https://orcid.org/0000-0002-4773-4074"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ivo P. Touw","raw_affiliation_strings":["Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5036369323","display_name":"Marieke v. Lindern","orcid":"https://orcid.org/0000-0001-6162-6320","observed_orcids":["https://orcid.org/0000-0001-6162-6320","https://orcid.org/0000-0002-2596-0046"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]},{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I3020210244","display_name":"Sanquin","ror":"https://ror.org/01fm2fv39","country_code":"NL","type":"nonprofit","lineage":["https://openalex.org/I3020210244"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Marieke von Lindern","raw_affiliation_strings":["Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;","Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands;","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I3020210244","https://openalex.org/I887064364"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":8,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":4.3868,"has_fulltext":false,"cited_by_count":200,"citation_normalized_percentile":{"value":0.96164171,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"119","issue":"1","first_page":"262","last_page":"272"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.6279000043869019,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.6279000043869019,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.33149999380111694,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.0052999998442828655,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/diamond-blackfan-anemia","display_name":"Diamond-Blackfan anemia","score":1.0},{"id":"https://openalex.org/keywords/rps19","display_name":"RPS19","score":0.9419999718666077},{"id":"https://openalex.org/keywords/rpl11","display_name":"ribosomal protein L11","score":1.0},{"id":"https://openalex.org/keywords/erythroid-differentiation","display_name":"erythroid differentiation","score":0.7699999809265137},{"id":"https://openalex.org/keywords/erythroblasts","display_name":"erythroblasts","score":0.972000002861023},{"id":"https://openalex.org/keywords/internal-ribosome-entry-site","display_name":"internal ribosome entry site","score":0.8349999785423279},{"id":"https://openalex.org/keywords/cap-independent-translation","display_name":"cap-independent translation","score":0.8270000219345093},{"id":"https://openalex.org/keywords/bag-1","display_name":"BAG-1","score":0.8650000095367432},{"id":"https://openalex.org/keywords/csde1","display_name":"CSDE1","score":0.9409999847412109},{"id":"https://openalex.org/keywords/hsp70-co-chaperone","display_name":"Hsp70 co-chaperone","score":0.8690000176429749},{"id":"https://openalex.org/keywords/rna-binding-proteins","display_name":"RNA-binding proteins","score":0.902999997138977},{"id":"https://openalex.org/keywords/translation-initiation","display_name":"translation initiation","score":0.5139999985694885}],"concepts":[{"id":"https://openalex.org/C2778997081","wikidata":"https://www.wikidata.org/wiki/Q1208654","display_name":"Diamond\u2013Blackfan anemia","level":5,"score":0.8829666376113892},{"id":"https://openalex.org/C149364088","wikidata":"https://www.wikidata.org/wiki/Q185917","display_name":"Translation (biology)","level":4,"score":0.6092197299003601},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5568008422851562},{"id":"https://openalex.org/C38062823","wikidata":"https://www.wikidata.org/wiki/Q3408228","display_name":"Ribosomal protein","level":5,"score":0.48930737376213074},{"id":"https://openalex.org/C148738053","wikidata":"https://www.wikidata.org/wiki/Q210861","display_name":"Cellular differentiation","level":3,"score":0.4878278076648712},{"id":"https://openalex.org/C67905577","wikidata":"https://www.wikidata.org/wiki/Q215980","display_name":"Ribosomal RNA","level":3,"score":0.4778934717178345},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4737340211868286},{"id":"https://openalex.org/C88478588","wikidata":"https://www.wikidata.org/wiki/Q42244","display_name":"Ribosome","level":4,"score":0.44763052463531494},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3551834225654602},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3257930278778076},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.23461022973060608},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2109920084476471},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.2067793905735016}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002454","descriptor_name":"Cell Differentiation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D004622","descriptor_name":"Embryo, Mammalian","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D004622","descriptor_name":"Embryo, Mammalian","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004900","descriptor_name":"Erythroblasts","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":true},{"descriptor_ui":"D004900","descriptor_name":"Erythroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005434","descriptor_name":"Flow Cytometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011132","descriptor_name":"Polyribosomes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011132","descriptor_name":"Polyribosomes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011132","descriptor_name":"Polyribosomes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D012269","descriptor_name":"Ribosomal Proteins","qualifier_ui":"Q000037","qualifier_name":"antagonists & inhibitors","is_major_topic":false},{"descriptor_ui":"D012269","descriptor_name":"Ribosomal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012269","descriptor_name":"Ribosomal Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D014176","descriptor_name":"Protein Biosynthesis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015153","descriptor_name":"Blotting, Western","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015415","descriptor_name":"Biomarkers","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D016601","descriptor_name":"RNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016601","descriptor_name":"RNA-Binding Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D029503","descriptor_name":"Anemia, Diamond-Blackfan","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D029503","descriptor_name":"Anemia, Diamond-Blackfan","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D034741","descriptor_name":"RNA, Small Interfering","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D049109","descriptor_name":"Cell Proliferation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060888","descriptor_name":"Real-Time Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":8,"locations":[{"id":"doi:10.1182/blood-2011-06-358200","doi":"https://doi.org/10.1182/blood-2011-06-358200","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2011-06-358200","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"pmid:22058113","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22058113","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"Journal Article"},{"id":"pmh:oai:pure.eur.nl:openaire_cris_publications/b2cede6d-7d1b-4582-9cdf-f5ed721a9a0c","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/b2cede6d-7d1b-4582-9cdf-f5ed721a9a0c","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Horos, R, Ijspeert, H, Pospisilova, D, Sendtner, R, Andrieu-Soler, C, Taskesen, E, Nieradka, A, Cmejla, R, Sendtner, M, Touw, I & Lindern, M 2012, 'Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts', Blood, vol. 119, no. 1, pp. 262-272. https://doi.org/10.1182/blood-2011-06-358200","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.1032.6003","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1032.6003","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.bloodjournal.org/content/bloodjournal/119/1/262.full.pdf?sso-checked%3Dtrue","raw_type":"text"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/82566ea0-7962-4164-bf2f-8d16dbbba075","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/ribosomal-deficiencies-in-diamondblackfan-anemia-impair-translation-of-transcripts-essential-for-differentiation-of-murine-and-human-erythroblasts(82566ea0-7962-4164-bf2f-8d16dbbba075).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Blood, 119(1), 262 - 272. American Society of Hematology","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:pure.eur.nl:publications/b2cede6d-7d1b-4582-9cdf-f5ed721a9a0c","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/b2cede6d-7d1b-4582-9cdf-f5ed721a9a0c","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Blood, 119(1), 262 - 272. American Society of Hematology","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/3bcf0f95-0877-4285-9aac-897939bacc45","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/3bcf0f95-0877-4285-9aac-897939bacc45","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Horos, R, Ijspeert, H, Pospisilova, D, Sendtner, R, Andrieu-Soler, C, Taskesen, E, Nieradka, A, Cmejla, R, Sendtner, M, Touw, I P & von Lindern, M 2012, 'Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts', Blood, vol. 119, no. 1, pp. 262-272. https://doi.org/10.1182/blood-2011-06-358200","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.eur.nl:datasets/47de4764-f1bb-41e0-98a2-4389d914db55","doi":null,"is_oa":false,"landing_page_url":"https://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-22903","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6240000128746033}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":47,"referenced_works":["https://openalex.org/W186782872","https://openalex.org/W1497167438","https://openalex.org/W1521601785","https://openalex.org/W1568006607","https://openalex.org/W1965313133","https://openalex.org/W1966141254","https://openalex.org/W1976115046","https://openalex.org/W1984008942","https://openalex.org/W1989479124","https://openalex.org/W1989770493","https://openalex.org/W1994153889","https://openalex.org/W2024065761","https://openalex.org/W2027349434","https://openalex.org/W2029864805","https://openalex.org/W2032702359","https://openalex.org/W2037111595","https://openalex.org/W2037313242","https://openalex.org/W2039171339","https://openalex.org/W2042974023","https://openalex.org/W2043376129","https://openalex.org/W2048085228","https://openalex.org/W2053352835","https://openalex.org/W2063137674","https://openalex.org/W2063394028","https://openalex.org/W2071000209","https://openalex.org/W2071622548","https://openalex.org/W2077274633","https://openalex.org/W2081224211","https://openalex.org/W2084481001","https://openalex.org/W2087049112","https://openalex.org/W2092869829","https://openalex.org/W2093705507","https://openalex.org/W2109108939","https://openalex.org/W2116086627","https://openalex.org/W2116844389","https://openalex.org/W2121533623","https://openalex.org/W2124491171","https://openalex.org/W2133832061","https://openalex.org/W2137333423","https://openalex.org/W2139931653","https://openalex.org/W2141157874","https://openalex.org/W2145963548","https://openalex.org/W2149046852","https://openalex.org/W2152913678","https://openalex.org/W2158111020","https://openalex.org/W2768474937","https://openalex.org/W2916336743"],"related_works":["https://openalex.org/W7095335954","https://openalex.org/W2530894630","https://openalex.org/W2105185619","https://openalex.org/W2116086627","https://openalex.org/W1552143291","https://openalex.org/W7163688472","https://openalex.org/W7099793265","https://openalex.org/W2009938407","https://openalex.org/W289224987","https://openalex.org/W2592410029"],"abstract_inverted_index":{"Diamond-Blackfan":[0],"anemia":[1],"(DBA)":[2],"is":[3,101],"associated":[4],"with":[5,130],"developmental":[6],"defects":[7],"and":[8,62,83,89,104,140,156,168],"profound":[9],"anemia.":[10],"Mutations":[11],"in":[12,31,59,96,136,147,172,194],"genes":[13],"encoding":[14,79,85],"a":[15,80],"ribosomal":[16,27,41,109,184],"protein":[17],"of":[18,35,48,55,72,117,151,158,166,188,201],"the":[19,53,137,154,198],"small":[20],"(e.g.,":[21,25],"RPS19)":[22],"or":[23,57,119],"large":[24],"RPL11)":[26],"subunit":[28],"are":[29],"found":[30],"more":[32],"than":[33],"half":[34],"these":[36,76],"patients.":[37,177],"The":[38],"mutations":[39],"cause":[40],"haploinsufficiency,":[42],"which":[43,67,112],"reduces":[44],"overall":[45],"translation":[46,70,99,187],"efficiency":[47],"cellular":[49],"mRNAs.":[50],"We":[51],"reduced":[52,131,171],"expression":[54,143,150,165],"Rps19":[56,118],"Rpl11":[58],"mouse":[60],"erythroblasts":[61,173,195],"investigated":[63],"mRNA":[64,164],"polyribosome":[65],"association,":[66],"revealed":[68],"deregulated":[69],"initiation":[71,100],"specific":[73],"transcripts.":[74],"Among":[75],"were":[77,91],"Bag1,":[78],"Hsp70":[81],"cochaperone,":[82],"Csde1,":[84],"an":[86,107],"RNA-binding":[87],"protein,":[88],"both":[90],"expressed":[92,190],"at":[93,126,191],"increased":[94,192],"levels":[95,193],"erythroblasts.":[97],"Their":[98],"cap":[102],"independent":[103],"starts":[105],"from":[106,175],"internal":[108,183],"entry":[110,185],"site,":[111],"appeared":[113],"sensitive":[114],"to":[115,197],"knockdown":[116],"Rpl11.":[120],"Mouse":[121],"embryos":[122],"lacking":[123],"Bag1":[124,142],"die":[125],"embryonic":[127],"day":[128],"13.5,":[129],"erythroid":[132,145,159,199],"colony":[133],"forming":[134],"cells":[135],"fetal":[138],"liver,":[139],"low":[141],"impairs":[144,153],"differentiation":[146,157],"vitro.":[148],"Reduced":[149],"Csde1":[152],"proliferation":[155],"blasts.":[160],"Protein":[161],"but":[162],"not":[163],"BAG1":[167],"CSDE1":[169],"was":[170],"cultured":[174],"DBA":[176],"Our":[178],"data":[179],"suggest":[180],"that":[181],"impaired":[182],"site-mediated":[186],"mRNAs":[189],"contributes":[196],"phenotype":[200],"DBA.":[202]},"counts_by_year":[{"year":2026,"cited_by_count":9},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":11},{"year":2023,"cited_by_count":10},{"year":2022,"cited_by_count":15},{"year":2021,"cited_by_count":17},{"year":2020,"cited_by_count":11},{"year":2019,"cited_by_count":16},{"year":2018,"cited_by_count":25},{"year":2017,"cited_by_count":13},{"year":2016,"cited_by_count":12},{"year":2015,"cited_by_count":13},{"year":2014,"cited_by_count":13},{"year":2013,"cited_by_count":19},{"year":2012,"cited_by_count":9}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}