{"id":"https://openalex.org/W2012005508","doi":"https://doi.org/10.1172/jci117417","title":"Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.","display_name":"Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.","publication_year":1994,"publication_date":"1994-09-01","ids":{"openalex":"https://openalex.org/W2012005508","doi":"https://doi.org/10.1172/jci117417","mag":"2012005508","pmid":"https://pubmed.ncbi.nlm.nih.gov/8083345","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/295157"},"language":"en","primary_location":{"id":"doi:10.1172/jci117417","doi":"https://doi.org/10.1172/jci117417","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci117417","pdf_url":"http://www.jci.org/articles/view/117417/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.jci.org/articles/view/117417/files/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5010824578","display_name":"Hisahide Nishio","orcid":"https://orcid.org/0000-0002-6778-4511","observed_orcids":["https://orcid.org/0000-0002-6778-4511"]},"institutions":[{"id":"https://openalex.org/I65837984","display_name":"Kobe University","ror":"https://ror.org/03tgsfw79","country_code":"JP","type":"education","lineage":["https://openalex.org/I65837984"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H Nishio","raw_affiliation_strings":["Department of Pediatrics, Kobe University, School of Medicine, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Kobe University, School of Medicine, Japan","institution_ids":["https://openalex.org/I65837984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089769676","display_name":"Yasuhiro Takeshima","orcid":"https://orcid.org/0000-0002-6468-7185","observed_orcids":["https://orcid.org/0000-0002-6468-7185"]},"institutions":[{"id":"https://openalex.org/I65837984","display_name":"Kobe University","ror":"https://ror.org/03tgsfw79","country_code":"JP","type":"education","lineage":["https://openalex.org/I65837984"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y Takeshima","raw_affiliation_strings":["Department of Pediatrics and Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Kobe 650, Japan;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Kobe 650, Japan;","institution_ids":["https://openalex.org/I65837984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003470749","display_name":"Naoko Narita","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I65837984","display_name":"Kobe University","ror":"https://ror.org/03tgsfw79","country_code":"JP","type":"education","lineage":["https://openalex.org/I65837984"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"N Narita","raw_affiliation_strings":["Department of Pediatrics and Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Kobe 650, Japan;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Kobe 650, Japan;","institution_ids":["https://openalex.org/I65837984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111541664","display_name":"Hiroshi Yanagawa","orcid":"https://orcid.org/0009-0000-8557-684X","observed_orcids":["https://orcid.org/0009-0000-8557-684X"]},"institutions":[{"id":"https://openalex.org/I4210098918","display_name":"Tokyo Metropolitan Institute of Medical Science","ror":"https://ror.org/00vya8493","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210098918"]},{"id":"https://openalex.org/I65837984","display_name":"Kobe University","ror":"https://ror.org/03tgsfw79","country_code":"JP","type":"education","lineage":["https://openalex.org/I65837984"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H Yanagawa","raw_affiliation_strings":["Department of Clinical Genetics , The Tokyo Metropolitan Institute of Medical Science , Tokyo 113 , Japan; and","Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo 113, Japan;","Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido 04931, Japan","Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics , The Tokyo Metropolitan Institute of Medical Science , Tokyo 113 , Japan; and","institution_ids":["https://openalex.org/I4210098918"]},{"raw_affiliation_string":"Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo 113, Japan;","institution_ids":["https://openalex.org/I4210098918"]},{"raw_affiliation_string":"Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido 04931, Japan","institution_ids":[]},{"raw_affiliation_string":"Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan","institution_ids":["https://openalex.org/I65837984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033346305","display_name":"Yoshiyuki Suzuki","orcid":"https://orcid.org/0000-0001-5232-7951","observed_orcids":["https://orcid.org/0000-0001-5232-7951"]},"institutions":[{"id":"https://openalex.org/I65837984","display_name":"Kobe University","ror":"https://ror.org/03tgsfw79","country_code":"JP","type":"education","lineage":["https://openalex.org/I65837984"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y Suzuki","raw_affiliation_strings":["Department of Pediatrics and Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Kobe 650, Japan;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Kobe 650, Japan;","institution_ids":["https://openalex.org/I65837984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100701797","display_name":"Yoshihiro Ishikawa","orcid":"https://orcid.org/0000-0003-2013-0518","observed_orcids":["https://orcid.org/0000-0003-2013-0518"]},"institutions":[{"id":"https://openalex.org/I4210098918","display_name":"Tokyo Metropolitan Institute of Medical Science","ror":"https://ror.org/00vya8493","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210098918"]},{"id":"https://openalex.org/I65837984","display_name":"Kobe University","ror":"https://ror.org/03tgsfw79","country_code":"JP","type":"education","lineage":["https://openalex.org/I65837984"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y Ishikawa","raw_affiliation_strings":["Department of Clinical Genetics , The Tokyo Metropolitan Institute of Medical Science , Tokyo 113 , Japan; and","Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido 04931, Japan","Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo 113, Japan;","Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics , The Tokyo Metropolitan Institute of Medical Science , Tokyo 113 , Japan; and","institution_ids":["https://openalex.org/I4210098918"]},{"raw_affiliation_string":"Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido 04931, Japan","institution_ids":[]},{"raw_affiliation_string":"Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo 113, Japan;","institution_ids":["https://openalex.org/I4210098918"]},{"raw_affiliation_string":"Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan","institution_ids":["https://openalex.org/I65837984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100701797","display_name":"Yoshihiro Ishikawa","orcid":"https://orcid.org/0000-0003-2013-0518","observed_orcids":["https://orcid.org/0000-0003-2013-0518"]},"institutions":[{"id":"https://openalex.org/I4210098918","display_name":"Tokyo Metropolitan Institute of Medical Science","ror":"https://ror.org/00vya8493","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210098918"]},{"id":"https://openalex.org/I65837984","display_name":"Kobe University","ror":"https://ror.org/03tgsfw79","country_code":"JP","type":"education","lineage":["https://openalex.org/I65837984"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y Ishikawa","raw_affiliation_strings":["Department of Clinical Genetics , The Tokyo Metropolitan Institute of Medical Science , Tokyo 113 , Japan; and","Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido 04931, Japan","Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo 113, Japan;","Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics , The Tokyo Metropolitan Institute of Medical Science , Tokyo 113 , Japan; and","institution_ids":["https://openalex.org/I4210098918"]},{"raw_affiliation_string":"Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido 04931, Japan","institution_ids":[]},{"raw_affiliation_string":"Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo 113, Japan;","institution_ids":["https://openalex.org/I4210098918"]},{"raw_affiliation_string":"Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan","institution_ids":["https://openalex.org/I65837984"]}]},{"author_position":"middle","author":{"id":null,"display_name":"R Minami","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098918","display_name":"Tokyo Metropolitan Institute of Medical Science","ror":"https://ror.org/00vya8493","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210098918"]},{"id":"https://openalex.org/I65837984","display_name":"Kobe University","ror":"https://ror.org/03tgsfw79","country_code":"JP","type":"education","lineage":["https://openalex.org/I65837984"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"R Minami","raw_affiliation_strings":["Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido 04931, Japan","Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan","Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo 113, Japan;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido 04931, Japan","institution_ids":[]},{"raw_affiliation_string":"Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan","institution_ids":["https://openalex.org/I65837984"]},{"raw_affiliation_string":"Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo 113, Japan;","institution_ids":["https://openalex.org/I4210098918"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085951307","display_name":"Hajime Nakamura","orcid":"https://orcid.org/0000-0003-0848-2940","observed_orcids":["https://orcid.org/0000-0003-0848-2940"]},"institutions":[{"id":"https://openalex.org/I4210098918","display_name":"Tokyo Metropolitan Institute of Medical Science","ror":"https://ror.org/00vya8493","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210098918"]},{"id":"https://openalex.org/I65837984","display_name":"Kobe University","ror":"https://ror.org/03tgsfw79","country_code":"JP","type":"education","lineage":["https://openalex.org/I65837984"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H Nakamura","raw_affiliation_strings":["Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido 04931, Japan","Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo 113, Japan;","Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido 04931, Japan","institution_ids":[]},{"raw_affiliation_string":"Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo 113, Japan;","institution_ids":["https://openalex.org/I4210098918"]},{"raw_affiliation_string":"Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650, Japan","institution_ids":["https://openalex.org/I65837984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012505898","display_name":"Masafumi Matsuo","orcid":"https://orcid.org/0000-0001-6747-7194","observed_orcids":["https://orcid.org/0000-0001-6747-7194"]},"institutions":[{"id":"https://openalex.org/I65837984","display_name":"Kobe University","ror":"https://ror.org/03tgsfw79","country_code":"JP","type":"education","lineage":["https://openalex.org/I65837984"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M Matsuo","raw_affiliation_strings":["Department of Pediatrics and Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Kobe 650, Japan;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Kobe 650, Japan;","institution_ids":["https://openalex.org/I65837984"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5200,"currency":"USD","value_usd":5200},"apc_paid":null,"fwci":1.8047,"has_fulltext":true,"cited_by_count":93,"citation_normalized_percentile":{"value":0.8553466,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"94","issue":"3","first_page":"1037","last_page":"1042"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9854000210762024,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.9854000210762024,"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/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.007600000128149986,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0008999999845400453,"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/dmd-gene","display_name":"dystrophin gene","score":0.9990000128746033},{"id":"https://openalex.org/keywords/alternative-promoter-usage","display_name":"alternative promoters","score":0.8619999885559082},{"id":"https://openalex.org/keywords/first-exon","display_name":"first exon","score":0.7400000095367432},{"id":"https://openalex.org/keywords/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":0.9449999928474426},{"id":"https://openalex.org/keywords/becker-muscular-dystrophy","display_name":"Becker muscular dystrophy","score":0.9959999918937683},{"id":"https://openalex.org/keywords/dystrophin-isoforms","display_name":"dystrophin isoforms","score":0.8209999799728394},{"id":"https://openalex.org/keywords/promoter-mapping","display_name":"promoter mapping","score":0.4959999918937683},{"id":"https://openalex.org/keywords/tata-box","display_name":"TATA box","score":0.796999990940094},{"id":"https://openalex.org/keywords/octamer-motif","display_name":"octamer motif","score":0.9399999976158142},{"id":"https://openalex.org/keywords/gene-evolution","display_name":"gene evolution","score":0.734000027179718}],"concepts":[{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.8295773267745972},{"id":"https://openalex.org/C101762097","wikidata":"https://www.wikidata.org/wiki/Q224093","display_name":"Promoter","level":4,"score":0.7506105899810791},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6571044921875},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5772863626480103},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5579394102096558},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5570366382598877},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.5147452354431152},{"id":"https://openalex.org/C39917842","wikidata":"https://www.wikidata.org/wiki/Q1384125","display_name":"Exon trapping","level":5,"score":0.5130075812339783},{"id":"https://openalex.org/C176990463","wikidata":"https://www.wikidata.org/wiki/Q1854186","display_name":"Start codon","level":4,"score":0.4897594451904297},{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.45230865478515625},{"id":"https://openalex.org/C54985914","wikidata":"https://www.wikidata.org/wiki/Q1295754","display_name":"Consensus sequence","level":4,"score":0.448845237493515},{"id":"https://openalex.org/C65888428","wikidata":"https://www.wikidata.org/wiki/Q1413955","display_name":"TATA box","level":5,"score":0.4235309064388275},{"id":"https://openalex.org/C2780394045","wikidata":"https://www.wikidata.org/wiki/Q412285","display_name":"Dystrophin","level":3,"score":0.41733407974243164},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.3883914649486542},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.20130151510238647},{"id":"https://openalex.org/C167625842","wikidata":"https://www.wikidata.org/wiki/Q899763","display_name":"Peptide sequence","level":3,"score":0.18937477469444275},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.1528504192829132}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002461","descriptor_name":"Cell Line, Transformed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005075","descriptor_name":"Biological Evolution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012045","descriptor_name":"Regulatory Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012689","descriptor_name":"Sequence Homology, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014158","descriptor_name":"Transcription, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015183","descriptor_name":"Restriction Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015186","descriptor_name":"Hominidae","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016189","descriptor_name":"Dystrophin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016385","descriptor_name":"TATA Box","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1172/jci117417","doi":"https://doi.org/10.1172/jci117417","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci117417","pdf_url":"http://www.jci.org/articles/view/117417/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:295157","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/295157","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"J Clin Invest","raw_type":"Text"},{"id":"pmid:8083345","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8083345","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":"The Journal of clinical investigation","raw_type":"Comparative Study"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.942.951","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.942.951","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://dm5migu4zj3pb.cloudfront.net/manuscripts/117000/117417/JCI94117417.pdf","raw_type":"text"}],"best_oa_location":{"id":"doi:10.1172/jci117417","doi":"https://doi.org/10.1172/jci117417","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci117417","pdf_url":"http://www.jci.org/articles/view/117417/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8346999883651733,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320325772","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2012005508.pdf","grobid_xml":"https://content.openalex.org/works/W2012005508.grobid-xml"},"referenced_works_count":37,"referenced_works":["https://openalex.org/W10680619","https://openalex.org/W52421077","https://openalex.org/W84450464","https://openalex.org/W1540793087","https://openalex.org/W1547162940","https://openalex.org/W1563961309","https://openalex.org/W1967482814","https://openalex.org/W1971809076","https://openalex.org/W1978966652","https://openalex.org/W1987933233","https://openalex.org/W1994566448","https://openalex.org/W1995550032","https://openalex.org/W1995615447","https://openalex.org/W1995621893","https://openalex.org/W1997140189","https://openalex.org/W2000144358","https://openalex.org/W2043391835","https://openalex.org/W2045664538","https://openalex.org/W2049846352","https://openalex.org/W2051890736","https://openalex.org/W2055028964","https://openalex.org/W2062746471","https://openalex.org/W2064788529","https://openalex.org/W2077640739","https://openalex.org/W2083537465","https://openalex.org/W2101269634","https://openalex.org/W2115149771","https://openalex.org/W2131032634","https://openalex.org/W2134812217","https://openalex.org/W2135793566","https://openalex.org/W2156074272","https://openalex.org/W2168268616","https://openalex.org/W2176747243","https://openalex.org/W2518325348","https://openalex.org/W4255750110","https://openalex.org/W4285719527","https://openalex.org/W6836970593"],"related_works":["https://openalex.org/W7017918652","https://openalex.org/W2916150412","https://openalex.org/W2025027077","https://openalex.org/W2156074272","https://openalex.org/W2010831004","https://openalex.org/W2164120163","https://openalex.org/W1534273073","https://openalex.org/W2064788529","https://openalex.org/W2070487136","https://openalex.org/W2013188550"],"abstract_inverted_index":{"The":[0,53,117,155,188,228],"dystrophin":[1,34,77,226,260],"gene,":[2],"which":[3,151],"is":[4,14,57,237],"mutated":[5],"in":[6,87],"patients":[7],"with":[8,36,62],"Duchenne":[9,63],"and":[10,184],"Becker":[11],"muscular":[12,64],"dystrophies,":[13],"the":[15,72,76,88,92,108,125,129,134,146,161,172,212,216,225,233,255,259],"largest":[16],"known":[17],"human":[18],"gene.":[19,93,227,261],"Five":[20],"alternative":[21,51],"promoters":[22,84],"have":[23,199],"been":[24,200],"characterized":[25],"until":[26],"now.":[27],"Here":[28],"we":[29],"show":[30],"that":[31,58,133,241],"a":[32,37,48,60,68,178,204],"novel":[33],"isoform":[35],"different":[38],"first":[39],"exon":[40,80,105,138],"can":[41],"be":[42],"produced":[43],"through":[44],"transcription":[45],"initiation":[46],"at":[47],"previously":[49,85,217],"unidentified":[50],"promoter.":[52],"case":[54],"study":[55],"presented":[56],"of":[59,75,91,110,114,120,128,137,150,174,211,215,230,232,242,258],"patient":[61],"dystrophy":[65],"who":[66],"had":[67],"deletion":[69],"extending":[70],"from":[71,95,160],"5'":[73,89,126,135,214],"end":[74,127,136],"gene":[78],"to":[79,100,104,124,177,194,203,224,240],"2,":[81,196],"including":[82],"all":[83],"mapped":[86],"part":[90,231],"Transcripts":[94],"lymphoblastoid":[96],"cells":[97],"were":[98],"found":[99],"contain":[101],"sequences":[102,175],"corresponding":[103,123],"3,":[106],"indicating":[107],"presence":[109,173],"new":[111,130,162,234],"promoter":[112,235],"upstream":[113,159,210],"this":[115],"exon.":[116],"nucleotide":[118,157],"sequence":[119,158,229],"amplified":[121],"cDNA":[122],"transcript":[131],"indicated":[132],"3":[139],"was":[140],"extended":[141],"by":[142],"9":[143],"codons,":[144],"only":[145],"last":[147],"(most":[148],"3')":[149],"codes":[152],"for":[153],"methionine.":[154],"genomic":[156],"exon,":[163],"as":[164,197],"determined":[165],"using":[166],"inverse":[167],"polymerase":[168],"chain":[169],"reaction,":[170],"revealed":[171],"similar":[176,239],"TATA":[179],"box,":[180],"an":[181,185],"octamer":[182],"motif":[183],"MEF-2":[186],"element.":[187],"identified":[189,218],"promoter/exon":[190],"did":[191],"not":[192],"map":[193],"intron":[195],"might":[198],"expected,":[201],"but":[202],"position":[205],"more":[206],"than":[207],"500":[208,222],"kb":[209,223],"most":[213],"promoters,":[219],"thereby":[220],"adding":[221],"region":[236],"very":[238],"certain":[243],"medium":[244],"reiteration":[245],"frequency":[246],"repetitive":[247],"sequences.":[248],"These":[249],"findings":[250],"may":[251],"help":[252],"us":[253],"understand":[254],"molecular":[256],"evolution":[257]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2017,"cited_by_count":5},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}