{"id":"https://openalex.org/W2610164482","doi":null,"title":"Treatment of DMD 5\u2019 Mutations through Two Different Exon 2 Skipping Strategies: rAAV9.U7snRNA Mediated Skipping and Antisense Morpholino Oligomers","display_name":"Treatment of DMD 5\u2019 Mutations through Two Different Exon 2 Skipping Strategies: rAAV9.U7snRNA Mediated Skipping and Antisense Morpholino Oligomers","publication_year":2016,"publication_date":"2016-01-01","ids":{"openalex":"https://openalex.org/W2610164482","mag":"2610164482"},"language":"en","primary_location":{"id":"pmh:oai:etd.ohiolink.edu:osu1469122227","doi":null,"is_oa":true,"landing_page_url":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","pdf_url":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","source":{"id":"https://openalex.org/S4377196344","display_name":"OhioLink ETD Center (Ohio Library and Information Network)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210155183","host_organization_name":"Ohio Library and Information Network","host_organization_lineage":["https://openalex.org/I4210155183"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","raw_type":"text"},"volume":null,"type":"article","indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5039313795","display_name":"Tabatha R. Simmons","orcid":"https://orcid.org/0000-0001-8505-9885","observed_orcids":["https://orcid.org/0000-0001-8505-9885"]},"institutions":[{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Tabatha R. Simmons","raw_affiliation_strings":["the Ohio State University"],"raw_orcid":"https://orcid.org/0000-0001-8505-9885","affiliations":[{"raw_affiliation_string":"the Ohio State University","institution_ids":["https://openalex.org/I52357470"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5039313795"],"corresponding_institution_ids":["https://openalex.org/I52357470"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.13868743,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.7734000086784363,"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":0.7734000086784363,"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":0.15770000219345093,"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/T10613","display_name":"Virus-based gene therapy research","score":0.027400000020861626,"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/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":1.0},{"id":"https://openalex.org/keywords/exon-skipping","display_name":"exon skipping","score":0.7519999742507935},{"id":"https://openalex.org/keywords/dystrophin","display_name":"dystrophin","score":0.7979999780654907},{"id":"https://openalex.org/keywords/intramuscular-gene-delivery","display_name":"intramuscular gene delivery","score":0.5960000157356262},{"id":"https://openalex.org/keywords/systemic-gene-delivery","display_name":"systemic gene delivery","score":0.7570000290870667}],"concepts":[{"id":"https://openalex.org/C2778776201","wikidata":"https://www.wikidata.org/wiki/Q3474283","display_name":"Exon skipping","level":5,"score":0.897942066192627},{"id":"https://openalex.org/C136571751","wikidata":"https://www.wikidata.org/wiki/Q424607","display_name":"Morpholino","level":4,"score":0.8749824166297913},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.592967689037323},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4173164665699005},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36530476808547974},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.36445412039756775},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19071972370147705},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.17037665843963623},{"id":"https://openalex.org/C2776878037","wikidata":"https://www.wikidata.org/wiki/Q169444","display_name":"Zebrafish","level":3,"score":0.12119117379188538}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:etd.ohiolink.edu:osu1469122227","doi":null,"is_oa":true,"landing_page_url":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","pdf_url":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","source":{"id":"https://openalex.org/S4377196344","display_name":"OhioLink ETD Center (Ohio Library and Information Network)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210155183","host_organization_name":"Ohio Library and Information Network","host_organization_lineage":["https://openalex.org/I4210155183"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","raw_type":"text"},{"id":"mag:2610164482","doi":null,"is_oa":false,"landing_page_url":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:etd.ohiolink.edu:osu1469122227","doi":null,"is_oa":true,"landing_page_url":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","pdf_url":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","source":{"id":"https://openalex.org/S4377196344","display_name":"OhioLink ETD Center (Ohio Library and Information Network)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210155183","host_organization_name":"Ohio Library and Information Network","host_organization_lineage":["https://openalex.org/I4210155183"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227","raw_type":"text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2610164482.pdf","grobid_xml":"https://content.openalex.org/works/W2610164482.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2562574698","https://openalex.org/W2566947722","https://openalex.org/W3136361381","https://openalex.org/W2036515920","https://openalex.org/W4403135567","https://openalex.org/W4205874204","https://openalex.org/W6999811132","https://openalex.org/W4285013453","https://openalex.org/W415139782","https://openalex.org/W2752335425"],"abstract_inverted_index":{"Duchenne":[0],"muscular":[1],"dystrophy":[2],"(DMD)":[3],"is":[4],"an":[5,35,43,50],"X-linked":[6],"progressive":[7],"disease":[8],"characterized":[9],"by":[10,123,131],"loss":[11],"of":[12,18,59,62,77,95,119,146,152,157,164,174],"dystrophin":[13,167,184],"protein":[14],"as":[15],"a":[16,63,72,78,88,93,132],"result":[17,70],"truncating":[19],"mutations":[20,32,122],"in":[21,71,105,140,178],"the":[22,99,141],"DMD":[23],"gene.Initial":[24],"exon-skipping":[25,109],"therapies":[26,110],"have":[27,86],"sought":[28],"to":[29,69],"treat":[30],"deletion":[31],"that":[33,168,188],"abolish":[34],"open":[36],"reading":[37],"frame":[38],"(ORF)":[39],"because":[40],"when":[41],"skipped,":[42],"ORF":[44],"can":[45],"be":[46,67],"restored":[47],"and":[48,75,136,149,181],"produce":[49],"internally":[51],"deleted,":[52],"yet":[53],"partially":[54],"functional":[55],"protein.In":[56],"contrast,":[57],"skipping":[58,129,139,156,180],"one":[60],"copy":[61],"duplicated":[64],"exon":[65,96,103,158],"would":[66],"expected":[68],"full-length":[73],"transcript":[74],"production":[76],"wild":[79],"type":[80],"protein.To":[81],"test":[82],"this":[83],"approach,":[84],"we":[85],"developed":[87],"mouse":[89],"model":[90],"which":[91,114],"contains":[92],"duplication":[94,104,112,121],"2":[97],"(Dup2),":[98],"most":[100],"common":[101],"single":[102],"patients.We":[106],"are":[107],"developing":[108],"for":[111,116],"mutations,":[113],"account":[115],"around":[117],"6%-11%":[118],"all":[120],"testing":[124],"both":[125,147],"virally":[126],"(AAV)":[127],"mediated":[128],"induced":[130],"modified":[133],"U7snRNA":[134],"(rAAV9.U7.ACCA)":[135],"antisense":[137,175],"oligomer-induced":[138],"Dup2":[142],"mouse.Dose":[143],"escalation":[144],"studies":[145],"intramuscular":[148,172],"systemic":[150],"delivery":[151],"scAAV9.U7.ACCA":[153],"show":[154],"efficient":[155],"2,":[159],"along":[160],"with":[161],"increased":[162],"expression":[163],"properly":[165,182],"localized":[166,183],"restores":[169],"muscle":[170],"function.Furthermore,":[171],"injections":[173],"oligomers":[176],"results":[177],"widespread":[179],"protein.These":[185],"data":[186],"suggest":[187]},"counts_by_year":[],"updated_date":"2026-09-09T07:26:56.047234","created_date":"2017-05-12T00:00:00"}
