{"id":"https://openalex.org/W2052225378","doi":"https://doi.org/10.1182/blood-2012-04-423129","title":"OBFC2A/RARA: a novel fusion gene in variant acute promyelocytic leukemia","display_name":"OBFC2A/RARA: a novel fusion gene in variant acute promyelocytic leukemia","publication_year":2013,"publication_date":"2013-01-03","ids":{"openalex":"https://openalex.org/W2052225378","doi":"https://doi.org/10.1182/blood-2012-04-423129","mag":"2052225378","pmid":"https://pubmed.ncbi.nlm.nih.gov/23287866"},"language":"en","primary_location":{"id":"doi:10.1182/blood-2012-04-423129","doi":"https://doi.org/10.1182/blood-2012-04-423129","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2012-04-423129","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/A5061088742","display_name":"Dahae Won","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dahae Won","raw_affiliation_strings":["Departments of Laboratory Medicine and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Laboratory Medicine and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001189613","display_name":"So\u2013Youn Shin","orcid":"https://orcid.org/0000-0002-7097-4551","observed_orcids":["https://orcid.org/0000-0002-7097-4551"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"So Youn Shin","raw_affiliation_strings":["Departments of Laboratory Medicine and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Laboratory Medicine and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073296574","display_name":"Chan\u2010Jeoung Park","orcid":"https://orcid.org/0000-0003-4396-8348","observed_orcids":["https://orcid.org/0000-0003-4396-8348"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chan-Jeoung Park","raw_affiliation_strings":["Departments of Laboratory Medicine and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Laboratory Medicine and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044342301","display_name":"Seongsoo Jang","orcid":"https://orcid.org/0000-0002-0045-1747","observed_orcids":["https://orcid.org/0000-0002-0045-1747"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Seongsoo Jang","raw_affiliation_strings":["Departments of Laboratory Medicine and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Laboratory Medicine and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109814688","display_name":"Hyun\u2010Sook Chi","orcid":"https://orcid.org/0000-0001-9596-3296","observed_orcids":["https://orcid.org/0000-0001-9596-3296"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hyun-Sook Chi","raw_affiliation_strings":["Departments of Laboratory Medicine and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Laboratory Medicine and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057787860","display_name":"Kyoo\u2010Hyung Lee","orcid":"https://orcid.org/0000-0002-2841-0779","observed_orcids":["https://orcid.org/0000-0002-2841-0779"]},"institutions":[{"id":"https://openalex.org/I40542001","display_name":"University of Ulsan","ror":"https://ror.org/02c2f8975","country_code":"KR","type":"education","lineage":["https://openalex.org/I40542001"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Kyoo-Hyung Lee","raw_affiliation_strings":["Internal Medicine, University of Ulsan College of Medicine, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Internal Medicine, University of Ulsan College of Medicine, and","institution_ids":["https://openalex.org/I40542001"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049035583","display_name":"Jin\u2010Ok Lee","orcid":"https://orcid.org/0000-0002-3151-9679","observed_orcids":["https://orcid.org/0000-0002-3151-9679"]},"institutions":[{"id":"https://openalex.org/I2801680663","display_name":"Asan Medical Center","ror":"https://ror.org/03s5q0090","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2801680663","https://openalex.org/I4210167194"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Jin-Ok Lee","raw_affiliation_strings":["Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea","institution_ids":["https://openalex.org/I2801680663"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050880690","display_name":"Eul\u2010Ju Seo","orcid":"https://orcid.org/0000-0002-8247-3746","observed_orcids":["https://orcid.org/0000-0002-8247-3746"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eul-Ju Seo","raw_affiliation_strings":["Departments of Laboratory Medicine and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Laboratory Medicine and","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":3.8802,"has_fulltext":false,"cited_by_count":65,"citation_normalized_percentile":{"value":0.94560753,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"121","issue":"8","first_page":"1432","last_page":"1435"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11559","display_name":"Retinoids in leukemia and cellular processes","score":1.0,"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/T11559","display_name":"Retinoids in leukemia and cellular processes","score":1.0,"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/T10309","display_name":"Acute Myeloid Leukemia Research","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"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/retinoic-acid-receptor-alpha","display_name":"retinoic acid receptor alpha","score":0.6819999814033508},{"id":"https://openalex.org/keywords/single-stranded-dna-binding-protein","display_name":"single-stranded DNA binding protein","score":0.824999988079071},{"id":"https://openalex.org/keywords/ob-fold-domain","display_name":"OB-fold domain","score":0.7070000171661377},{"id":"https://openalex.org/keywords/homodimerization","display_name":"homodimerization","score":0.8389999866485596},{"id":"https://openalex.org/keywords/all-trans-retinoic-acid","display_name":"all-trans retinoic acid","score":0.7870000004768372},{"id":"https://openalex.org/keywords/granulocytic-differentiation","display_name":"granulocytic differentiation","score":0.7889999747276306},{"id":"https://openalex.org/keywords/genomic-stability","display_name":"genome stability","score":0.5210000276565552},{"id":"https://openalex.org/keywords/fusion-transcripts","display_name":"fusion transcripts","score":0.39100000262260437}],"concepts":[{"id":"https://openalex.org/C2776601000","wikidata":"https://www.wikidata.org/wiki/Q612108","display_name":"Acute promyelocytic leukemia","level":4,"score":0.9230327606201172},{"id":"https://openalex.org/C111829193","wikidata":"https://www.wikidata.org/wiki/Q1108970","display_name":"Fusion gene","level":3,"score":0.7852494716644287},{"id":"https://openalex.org/C2781121885","wikidata":"https://www.wikidata.org/wiki/Q425517","display_name":"Retinoic acid","level":3,"score":0.6936322450637817},{"id":"https://openalex.org/C2778461978","wikidata":"https://www.wikidata.org/wiki/Q29496","display_name":"Leukemia","level":2,"score":0.5802677273750305},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.5648090839385986},{"id":"https://openalex.org/C2779963572","wikidata":"https://www.wikidata.org/wiki/Q29417","display_name":"Tretinoin","level":4,"score":0.4798566699028015},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4617268145084381},{"id":"https://openalex.org/C111441629","wikidata":"https://www.wikidata.org/wiki/Q18030615","display_name":"Promyelocytic leukemia protein","level":5,"score":0.428308367729187},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4144856929779053},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33221161365509033},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.315575510263443},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.2531290054321289}],"mesh":[{"descriptor_ui":"D000072482","descriptor_name":"Retinoic Acid Receptor alpha","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002889","descriptor_name":"Chromosomes, Human, Pair 2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015321","descriptor_name":"Gene Rearrangement","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015473","descriptor_name":"Leukemia, Promyelocytic, Acute","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015473","descriptor_name":"Leukemia, Promyelocytic, Acute","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015514","descriptor_name":"Oncogene Proteins, Fusion","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018168","descriptor_name":"Receptors, Retinoic Acid","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053960","descriptor_name":"DNA Breaks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055028","descriptor_name":"Comparative Genomic Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1182/blood-2012-04-423129","doi":"https://doi.org/10.1182/blood-2012-04-423129","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2012-04-423129","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:23287866","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23287866","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":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8999999761581421}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W45064441","https://openalex.org/W188006079","https://openalex.org/W1516721790","https://openalex.org/W1553544241","https://openalex.org/W1555289339","https://openalex.org/W1909732837","https://openalex.org/W1965388358","https://openalex.org/W1966895669","https://openalex.org/W1974839297","https://openalex.org/W1981044274","https://openalex.org/W1982342754","https://openalex.org/W1999758327","https://openalex.org/W2013532484","https://openalex.org/W2016789453","https://openalex.org/W2032650747","https://openalex.org/W2043946324","https://openalex.org/W2046691395","https://openalex.org/W2096603155","https://openalex.org/W2148713662","https://openalex.org/W2167466260","https://openalex.org/W2493219350"],"related_works":["https://openalex.org/W2364121365","https://openalex.org/W2013532484","https://openalex.org/W2109973641","https://openalex.org/W2401157487","https://openalex.org/W4240263005","https://openalex.org/W3206224016","https://openalex.org/W2552446279","https://openalex.org/W2064145492","https://openalex.org/W4391390062","https://openalex.org/W4401894353"],"abstract_inverted_index":{"Acute":[0],"promyelocytic":[1,30],"leukemia":[2,31],"is":[3,93],"characterized":[4],"by":[5,91],"the":[6,9,33,46,58,75,100,107,111,119,125,136],"rearrangement":[7,134],"of":[8,27,57,65,72,83,99,104,113,135],"retinoic":[10,129],"acid":[11,130],"receptor":[12],"\u03b1":[13],"(RARA)":[14],"gene":[15,138],"and":[16,48],"its":[17],"fusion":[18,108],"with":[19,32,69],"other":[20],"genes.":[21,54],"We":[22],"report":[23],"a":[24],"novel":[25],"case":[26],"variant":[28],"acute":[29],"karyotype":[34],"der":[35],"(2)t(2;17)(q32;q21).":[36],"Array":[37],"comparative":[38],"genomic":[39,96],"hybridization":[40],"revealed":[41],"distinct":[42],"chromosome":[43],"breakpoints":[44],"within":[45],"RARA":[47,73],"oligonucleotide/oligosaccharide-binding":[49],"fold":[50,102],"containing":[51],"2A":[52],"(OBFC2A)":[53],"Sequence":[55],"analysis":[56],"OBFC2A/RARA":[59],"transcript":[60],"showed":[61,121],"that":[62],"exon":[63,70],"5":[64],"OBFC2A":[66,92,105,137],"was":[67],"fused":[68],"3":[71],"through":[74],"same":[76],"breakpoint":[77],"as":[78],"in":[79,106,124,126,144],"previously":[80,142],"described":[81],"fusions":[82],"RARA.":[84],"The":[85,115],"single-stranded":[86],"DNA":[87],"binding":[88],"protein":[89,109],"encoded":[90],"critical":[94],"for":[95],"stability.":[97],"Retention":[98],"OB":[101],"domain":[103],"suggests":[110],"possibility":[112],"homodimerization.":[114],"leukemic":[116],"cells":[117],"from":[118],"patient":[120],"neutrophilic":[122],"differentiation":[123],"vitro":[127],"all-trans":[128],"assay.":[131],"Mutation":[132],"or":[133,146],"has":[139],"not":[140],"been":[141],"reported":[143],"congenital":[145],"acquired":[147],"disorders.":[148]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":8},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}