{"id":"https://openalex.org/W2047005331","doi":"https://doi.org/10.1038/mt.2014.189","title":"Could Exon Skipping Help Dystrophic Boys to Run, Hop, and Jump?","display_name":"Could Exon Skipping Help Dystrophic Boys to Run, Hop, and Jump?","publication_year":2014,"publication_date":"2014-11-01","ids":{"openalex":"https://openalex.org/W2047005331","doi":"https://doi.org/10.1038/mt.2014.189","mag":"2047005331","pmid":"https://pubmed.ncbi.nlm.nih.gov/25365985","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4429745"},"language":"en","primary_location":{"id":"doi:10.1038/mt.2014.189","doi":"https://doi.org/10.1038/mt.2014.189","is_oa":true,"landing_page_url":"https://doi.org/10.1038/mt.2014.189","pdf_url":"http://www.cell.com/article/S1525001616302325/pdf","source":{"id":"https://openalex.org/S51596929","display_name":"Molecular Therapy","issn_l":"1525-0016","issn":["1525-0016","1525-0024"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-140","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Therapy","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"http://www.cell.com/article/S1525001616302325/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5055891535","display_name":"Terence A. Partridge","orcid":"https://orcid.org/0000-0003-0203-758X","observed_orcids":["https://orcid.org/0000-0003-0203-758X"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Terence Partridge","raw_affiliation_strings":["Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA","institution_ids":["https://openalex.org/I1336742384"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5055891535"],"corresponding_institution_ids":["https://openalex.org/I1336742384"],"apc_list":{"value":4500,"currency":"USD","value_usd":4500},"apc_paid":{"value":4500,"currency":"USD","value_usd":4500},"fwci":0.1366,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.49782455,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"22","issue":"11","first_page":"1884","last_page":"1886"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9014000296592712,"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":0.9014000296592712,"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/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.050599999725818634,"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/T10604","display_name":"RNA Research and Splicing","score":0.010900000110268593,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/exon-skipping","display_name":"exon skipping","score":0.8600000143051147},{"id":"https://openalex.org/keywords/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/dmd-gene","display_name":"dystrophin gene","score":0.9760000109672546},{"id":"https://openalex.org/keywords/gene-rescue","display_name":"gene rescue","score":0.5460000038146973},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.4749999940395355},{"id":"https://openalex.org/keywords/muscle-function","display_name":"muscle function","score":0.3479999899864197}],"concepts":[{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.843736469745636},{"id":"https://openalex.org/C2778776201","wikidata":"https://www.wikidata.org/wiki/Q3474283","display_name":"Exon skipping","level":5,"score":0.8100054264068604},{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.7763362526893616},{"id":"https://openalex.org/C2780394045","wikidata":"https://www.wikidata.org/wiki/Q412285","display_name":"Dystrophin","level":3,"score":0.7707093954086304},{"id":"https://openalex.org/C47289529","wikidata":"https://www.wikidata.org/wiki/Q908550","display_name":"Open reading frame","level":4,"score":0.6572824120521545},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6403330564498901},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.5893136262893677},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5313941240310669},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5296962857246399},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.511375367641449},{"id":"https://openalex.org/C20580545","wikidata":"https://www.wikidata.org/wiki/Q28354","display_name":"Stop codon","level":3,"score":0.4547405242919922},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3263552784919739},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3224901556968689},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.16219687461853027},{"id":"https://openalex.org/C167625842","wikidata":"https://www.wikidata.org/wiki/Q899763","display_name":"Peptide sequence","level":3,"score":0.09242561459541321},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D000229","descriptor_name":"Dependovirus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005552","descriptor_name":"Forelimb","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012342","descriptor_name":"RNA, Small Nuclear","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016189","descriptor_name":"Dystrophin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020388","descriptor_name":"Muscular Dystrophy, Duchenne","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1038/mt.2014.189","doi":"https://doi.org/10.1038/mt.2014.189","is_oa":true,"landing_page_url":"https://doi.org/10.1038/mt.2014.189","pdf_url":"http://www.cell.com/article/S1525001616302325/pdf","source":{"id":"https://openalex.org/S51596929","display_name":"Molecular Therapy","issn_l":"1525-0016","issn":["1525-0016","1525-0024"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-140","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Therapy","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4429745","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4429745","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":"Mol Ther","raw_type":"Text"},{"id":"pmid:25365985","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25365985","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":"Molecular therapy : the journal of the American Society of Gene Therapy","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1038/mt.2014.189","doi":"https://doi.org/10.1038/mt.2014.189","is_oa":true,"landing_page_url":"https://doi.org/10.1038/mt.2014.189","pdf_url":"http://www.cell.com/article/S1525001616302325/pdf","source":{"id":"https://openalex.org/S51596929","display_name":"Molecular Therapy","issn_l":"1525-0016","issn":["1525-0016","1525-0024"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-140","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Therapy","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8048999905586243}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/4","display_name":"Quality education","score":0.6299999952316284}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2047005331.pdf"},"referenced_works_count":19,"referenced_works":["https://openalex.org/W179162791","https://openalex.org/W1533447420","https://openalex.org/W1972953584","https://openalex.org/W1985495937","https://openalex.org/W1989566133","https://openalex.org/W1998398326","https://openalex.org/W2007123925","https://openalex.org/W2010757394","https://openalex.org/W2033179276","https://openalex.org/W2038428739","https://openalex.org/W2056431144","https://openalex.org/W2062442451","https://openalex.org/W2066950610","https://openalex.org/W2067660687","https://openalex.org/W2077301034","https://openalex.org/W2090849645","https://openalex.org/W2117224856","https://openalex.org/W2157085976","https://openalex.org/W2158156749"],"related_works":["https://openalex.org/W2018862827","https://openalex.org/W3026051912","https://openalex.org/W7100034874","https://openalex.org/W4402622430","https://openalex.org/W2395410606","https://openalex.org/W69742912","https://openalex.org/W1993662564","https://openalex.org/W2754386505","https://openalex.org/W135888486","https://openalex.org/W2138962751"],"abstract_inverted_index":{"Rescue":[0],"of":[1,39,55,68],"information":[2,42],"from":[3,28,62],"mutated":[4,57],"genes,":[5],"as":[6],"opposed":[7],"to":[8,16],"replacing":[9],"them,":[10],"is":[11,43],"a":[12],"particularly":[13],"promising":[14],"approach":[15],"therapy":[17],"for":[18,49],"Duchenne":[19],"muscular":[20],"dystrophy":[21],"(DMD).":[22],"Because":[23],"this":[24,69],"disease":[25],"commonly":[26],"arises":[27],"relatively":[29],"small":[30],"mutations":[31],"in":[32,71,81],"the":[33,40,52,56,63,82],"very":[34],"large":[35],"dystrophin":[36],"gene,":[37],"most":[38],"structural":[41],"often":[44],"left":[45],"intact":[46],"and":[47],"available":[48],"use":[50],"if":[51],"interfering":[53],"effect":[54],"region":[58],"could":[59],"be":[60],"removed":[61],"gene":[64],"transcript.":[65],"Practical":[66],"application":[67],"idea":[70],"DMD":[72],"patients":[73],"has":[74],"been":[75],"moved":[76],"an":[77],"important":[78],"step":[79],"forward":[80],"recent":[83],"publication":[84],"by":[85],"Le":[86],"Guiner":[87],"et":[88],"al.":[89]},"counts_by_year":[{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
