{"id":"https://openalex.org/W2065637733","doi":"https://doi.org/10.1182/blood-2003-11-4069","title":"The Corfu \u03b4\u03b2 thalassemia deletion disrupts \u03b3-globin gene silencing and reveals post-transcriptional regulation of HbF expression","display_name":"The Corfu \u03b4\u03b2 thalassemia deletion disrupts \u03b3-globin gene silencing and reveals post-transcriptional regulation of HbF expression","publication_year":2004,"publication_date":"2004-11-09","ids":{"openalex":"https://openalex.org/W2065637733","doi":"https://doi.org/10.1182/blood-2003-11-4069","mag":"2065637733","pmid":"https://pubmed.ncbi.nlm.nih.gov/15536151"},"language":"en","primary_location":{"id":"doi:10.1182/blood-2003-11-4069","doi":"https://doi.org/10.1182/blood-2003-11-4069","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2003-11-4069","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","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/A5105887426","display_name":"Lyubomira Chakalova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1302113299","display_name":"Babraham Institute","ror":"https://ror.org/01d5qpn59","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1302113299","https://openalex.org/I2799693246","https://openalex.org/I4210087105"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GB","GR"],"is_corresponding":false,"raw_author_name":"Lyubomira Chakalova","raw_affiliation_strings":["From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I1302113299","https://openalex.org/I4210120313"]},{"raw_affiliation_string":"Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I1302113299"]},{"raw_affiliation_string":"Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210120313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086828967","display_name":"Cameron S. Osborne","orcid":"https://orcid.org/0000-0003-4126-2499","observed_orcids":["https://orcid.org/0000-0003-4126-2499"]},"institutions":[{"id":"https://openalex.org/I1302113299","display_name":"Babraham Institute","ror":"https://ror.org/01d5qpn59","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1302113299","https://openalex.org/I2799693246","https://openalex.org/I4210087105"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GB","GR"],"is_corresponding":false,"raw_author_name":"Cameron S. Osborne","raw_affiliation_strings":["From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I1302113299","https://openalex.org/I4210120313"]},{"raw_affiliation_string":"Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I1302113299"]},{"raw_affiliation_string":"Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210120313"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Yan-Feng Dai","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1302113299","display_name":"Babraham Institute","ror":"https://ror.org/01d5qpn59","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1302113299","https://openalex.org/I2799693246","https://openalex.org/I4210087105"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GB","GR"],"is_corresponding":false,"raw_author_name":"Yan-Feng Dai","raw_affiliation_strings":["From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I1302113299","https://openalex.org/I4210120313"]},{"raw_affiliation_string":"Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I1302113299"]},{"raw_affiliation_string":"Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210120313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036935326","display_name":"Beatriz Goyenechea","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1302113299","display_name":"Babraham Institute","ror":"https://ror.org/01d5qpn59","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1302113299","https://openalex.org/I2799693246","https://openalex.org/I4210087105"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GB","GR"],"is_corresponding":false,"raw_author_name":"Beatriz Goyenechea","raw_affiliation_strings":["From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I1302113299","https://openalex.org/I4210120313"]},{"raw_affiliation_string":"Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I1302113299"]},{"raw_affiliation_string":"Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210120313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014134147","display_name":"A Metaxotou-Mavromati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1302113299","display_name":"Babraham Institute","ror":"https://ror.org/01d5qpn59","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1302113299","https://openalex.org/I2799693246","https://openalex.org/I4210087105"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GB","GR"],"is_corresponding":false,"raw_author_name":"Anna Metaxotou-Mavromati","raw_affiliation_strings":["From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I1302113299","https://openalex.org/I4210120313"]},{"raw_affiliation_string":"Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I1302113299"]},{"raw_affiliation_string":"Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210120313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108812962","display_name":"Antonios C. Kattamis","orcid":"https://orcid.org/0000-0002-5178-0655","observed_orcids":["https://orcid.org/0000-0002-5178-0655"]},"institutions":[{"id":"https://openalex.org/I1302113299","display_name":"Babraham Institute","ror":"https://ror.org/01d5qpn59","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1302113299","https://openalex.org/I2799693246","https://openalex.org/I4210087105"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GB","GR"],"is_corresponding":false,"raw_author_name":"Antonios Kattamis","raw_affiliation_strings":["From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I1302113299","https://openalex.org/I4210120313"]},{"raw_affiliation_string":"Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I1302113299"]},{"raw_affiliation_string":"Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210120313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105167097","display_name":"CHRISTOS A. KATTAMIS","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1302113299","display_name":"Babraham Institute","ror":"https://ror.org/01d5qpn59","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1302113299","https://openalex.org/I2799693246","https://openalex.org/I4210087105"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GB","GR"],"is_corresponding":false,"raw_author_name":"Christos Kattamis","raw_affiliation_strings":["From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I1302113299","https://openalex.org/I4210120313"]},{"raw_affiliation_string":"Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I1302113299"]},{"raw_affiliation_string":"Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210120313"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5049273208","display_name":"Peter Fraser","orcid":"https://orcid.org/0000-0002-0041-1227","observed_orcids":["https://orcid.org/0000-0002-0041-1227"]},"institutions":[{"id":"https://openalex.org/I1302113299","display_name":"Babraham Institute","ror":"https://ror.org/01d5qpn59","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1302113299","https://openalex.org/I2799693246","https://openalex.org/I4210087105"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GB","GR"],"is_corresponding":false,"raw_author_name":"Peter Fraser","raw_affiliation_strings":["From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom; and the Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I1302113299","https://openalex.org/I4210120313"]},{"raw_affiliation_string":"Laboratory of Chromatin and Gene Expression, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I1302113299"]},{"raw_affiliation_string":"Thalassemia Unit, 1st Department of Pediatrics, Athens University \u201cAgia Sophia\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210120313"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":2.5708,"has_fulltext":false,"cited_by_count":80,"citation_normalized_percentile":{"value":0.89902941,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"105","issue":"5","first_page":"2154","last_page":"2160"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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/T12094","display_name":"Hemoglobin structure and function","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T10452","display_name":"Iron Metabolism and Disorders","score":0.0,"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/fetal-hemoglobin","display_name":"fetal hemoglobin","score":0.7429999709129333},{"id":"https://openalex.org/keywords/post-transcriptional-regulation","display_name":"post-transcriptional regulation","score":0.8579999804496765},{"id":"https://openalex.org/keywords/globin-gene-regulation","display_name":"globin gene regulation","score":0.7710000276565552},{"id":"https://openalex.org/keywords/hereditary-persistence-of-fetal-hemoglobin","display_name":"hereditary persistence of fetal hemoglobin","score":0.9129999876022339},{"id":"https://openalex.org/keywords/beta-thalassemia","display_name":"beta-thalassemia","score":0.8209999799728394},{"id":"https://openalex.org/keywords/erythroid-cells","display_name":"erythroid cells","score":0.7400000095367432},{"id":"https://openalex.org/keywords/cis-regulatory-elements","display_name":"cis-regulatory elements","score":0.4620000123977661}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7776944637298584},{"id":"https://openalex.org/C179926584","wikidata":"https://www.wikidata.org/wiki/Q207714","display_name":"Transcription (linguistics)","level":2,"score":0.6434649229049683},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.6391395330429077},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6067005395889282},{"id":"https://openalex.org/C119056186","wikidata":"https://www.wikidata.org/wiki/Q1431332","display_name":"Gene silencing","level":3,"score":0.6061581373214722},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.5878451466560364},{"id":"https://openalex.org/C2776317666","wikidata":"https://www.wikidata.org/wiki/Q2496436","display_name":"Fetal hemoglobin","level":4,"score":0.4962652325630188},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.487222820520401},{"id":"https://openalex.org/C165864922","wikidata":"https://www.wikidata.org/wiki/Q411391","display_name":"Regulation of gene expression","level":3,"score":0.46827247738838196},{"id":"https://openalex.org/C125996951","wikidata":"https://www.wikidata.org/wiki/Q412234","display_name":"Globin","level":3,"score":0.46270325779914856},{"id":"https://openalex.org/C101762097","wikidata":"https://www.wikidata.org/wiki/Q224093","display_name":"Promoter","level":4,"score":0.4343188405036926},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.41809192299842834},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.2246817946434021},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005319","descriptor_name":"Fetal Hemoglobin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005914","descriptor_name":"Globins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D014158","descriptor_name":"Transcription, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018507","descriptor_name":"Gene Expression Regulation, Developmental","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020868","descriptor_name":"Gene Silencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1182/blood-2003-11-4069","doi":"https://doi.org/10.1182/blood-2003-11-4069","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2003-11-4069","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:15536151","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15536151","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"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.5683000087738037}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W19958652","https://openalex.org/W166407049","https://openalex.org/W1516165231","https://openalex.org/W1899577620","https://openalex.org/W1968473524","https://openalex.org/W1973490873","https://openalex.org/W1984745908","https://openalex.org/W2001926054","https://openalex.org/W2012901225","https://openalex.org/W2015548262","https://openalex.org/W2025292386","https://openalex.org/W2040801516","https://openalex.org/W2049271350","https://openalex.org/W2050912973","https://openalex.org/W2076741524","https://openalex.org/W2081579852","https://openalex.org/W2093479431","https://openalex.org/W2100018747","https://openalex.org/W2111521814","https://openalex.org/W2116764585","https://openalex.org/W2132996826","https://openalex.org/W2133279102","https://openalex.org/W2165494690","https://openalex.org/W2167089067","https://openalex.org/W2170927603","https://openalex.org/W2172256596","https://openalex.org/W2216073713","https://openalex.org/W2300734161","https://openalex.org/W2345820046","https://openalex.org/W2416955801"],"related_works":["https://openalex.org/W7096451100","https://openalex.org/W1994311981","https://openalex.org/W2015548262","https://openalex.org/W2585089161","https://openalex.org/W353651267","https://openalex.org/W2471189254","https://openalex.org/W2007579381","https://openalex.org/W213411455","https://openalex.org/W7097009542","https://openalex.org/W1972735584"],"abstract_inverted_index":{"The":[0,159],"7.2":[1],"kilobase":[2],"(kb)":[3],"Corfu":[4,48,92,105,185],"deltabeta":[5,93],"thalassemia":[6],"mutation":[7],"is":[8,52],"the":[9,18,29,60,63,104,112,125,184,190,200,205],"smallest":[10],"known":[11],"deletion":[12,106],"encompassing":[13],"a":[14,119,142,152,178,194],"region":[15,64,192],"upstream":[16],"of":[17,36,62,111,124,145,155,204],"human":[19],"delta":[20],"gene":[21,67,75,135,157],"that":[22,103,132,162,189,197],"has":[23],"been":[24],"suggested":[25],"to":[26,59],"account":[27],"for":[28],"vastly":[30],"different":[31],"phenotypes":[32],"in":[33,47,83,100,108,116,122,141,199],"hereditary":[34],"persistence":[35],"fetal":[37,113,149],"hemoglobin":[38,44,80],"(HPFH)":[39],"versus":[40],"beta":[41,127,173],"thalassemia.":[42,94],"Fetal":[43],"(HbF)":[45],"expression":[46,81,169],"heterozygotes":[49],"and":[50,73,79,167,187],"homozygotes":[51],"paradoxically":[53],"dissimilar,":[54],"suggesting":[55],"conflicting":[56],"theories":[57],"as":[58],"function":[61],"on":[65],"globin":[66],"regulation.":[68],"Here,":[69],"we":[70,130],"measure":[71],"gamma-":[72],"beta-globin":[74,206],"transcription,":[76],"steady-state":[77],"mRNA,":[78],"levels":[82,175],"primary":[84],"erythroid":[85],"cells":[86],"cultured":[87],"from":[88],"several":[89],"patients":[90],"with":[91,118],"We":[95],"show":[96,188],"through":[97],"RNA":[98],"fluorescence":[99],"situ":[101],"hybridization":[102],"results":[107,182],"high-level":[109],"transcription":[110,123,136,203],"gamma":[114,134,146,156,164],"genes":[115],"cis":[117],"concomitant":[120],"reduction":[121],"downstream":[126],"gene.":[128],"Surprisingly,":[129],"find":[131],"elevated":[133],"does":[137],"not":[138],"always":[139],"result":[140],"corresponding":[143],"accumulation":[144,166],"mRNA":[147,165,174],"or":[148],"hemoglobin,":[150],"indicating":[151],"post-transcriptional":[153],"regulation":[154],"expression.":[158],"data":[160],"suggest":[161],"efficient":[163],"HbF":[168],"are":[170],"blocked":[171],"until":[172],"fall":[176],"below":[177],"critical":[179,195],"threshold.":[180],"These":[181],"explain":[183],"paradox":[186],"deleted":[191],"harbors":[193],"element":[196],"functions":[198],"developmentally":[201],"regulated":[202],"genes.":[207]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":5}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}