{"id":"https://openalex.org/W2166414189","doi":"https://doi.org/10.15406/jig.2015.02.00016","title":"Decoding Abnormal Splicing Code in Human Diseases","display_name":"Decoding Abnormal Splicing Code in Human Diseases","publication_year":2015,"publication_date":"2015-01-21","ids":{"openalex":"https://openalex.org/W2166414189","doi":"https://doi.org/10.15406/jig.2015.02.00016","mag":"2166414189"},"language":"en","primary_location":{"id":"doi:10.15406/jig.2015.02.00016","doi":"https://doi.org/10.15406/jig.2015.02.00016","is_oa":true,"landing_page_url":"https://doi.org/10.15406/jig.2015.02.00016","pdf_url":"https://medcraveonline.com/JIG/JIG-02-00016.pdf","source":{"id":"https://openalex.org/S4210197293","display_name":"Journal of Investigative Genomics","issn_l":"2373-4469","issn":["2373-4469"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310320093","host_organization_name":"MedCrave Group","host_organization_lineage":["https://openalex.org/P4310320093"],"host_organization_lineage_names":["MedCrave Group"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Genomics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://medcraveonline.com/JIG/JIG-02-00016.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017751776","display_name":"Kinji Ohno","orcid":"https://orcid.org/0000-0002-1529-2750","observed_orcids":["https://orcid.org/0000-0002-1529-2750"]},"institutions":[{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Kinji Ohno","raw_affiliation_strings":["Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, Aichi 466-8550, Japan,","Division of Neurogenetics,","Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, Aichi 466-8550, Japan,","institution_ids":["https://openalex.org/I60134161"]},{"raw_affiliation_string":"Division of Neurogenetics,","institution_ids":[]},{"raw_affiliation_string":"Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Japan","institution_ids":["https://openalex.org/I60134161"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5017751776"],"corresponding_institution_ids":["https://openalex.org/I60134161"],"apc_list":null,"apc_paid":null,"fwci":0.5294,"has_fulltext":true,"cited_by_count":12,"citation_normalized_percentile":{"value":0.57808916,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"2","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","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/T10604","display_name":"RNA Research and Splicing","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/T12610","display_name":"RNA regulation and disease","score":0.0,"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/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/rna-splicing","display_name":"RNA splicing","score":0.9549999833106995},{"id":"https://openalex.org/keywords/ribonucleoprotein","display_name":"ribonucleoprotein","score":0.8429999947547913},{"id":"https://openalex.org/keywords/splicing-regulation","display_name":"splicing regulation","score":0.7519999742507935},{"id":"https://openalex.org/keywords/sequence-context","display_name":"sequence context","score":0.4189999997615814}],"concepts":[{"id":"https://openalex.org/C57273362","wikidata":"https://www.wikidata.org/wiki/Q576722","display_name":"Decoding methods","level":2,"score":0.6939515471458435},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.6733762621879578},{"id":"https://openalex.org/C2776760102","wikidata":"https://www.wikidata.org/wiki/Q5139990","display_name":"Code (set theory)","level":3,"score":0.5402097702026367},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5026509761810303},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4727894961833954},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32785236835479736},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2866727113723755},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.19342368841171265},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.16239053010940552},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09780463576316833},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.0645596981048584},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.15406/jig.2015.02.00016","doi":"https://doi.org/10.15406/jig.2015.02.00016","is_oa":true,"landing_page_url":"https://doi.org/10.15406/jig.2015.02.00016","pdf_url":"https://medcraveonline.com/JIG/JIG-02-00016.pdf","source":{"id":"https://openalex.org/S4210197293","display_name":"Journal of Investigative Genomics","issn_l":"2373-4469","issn":["2373-4469"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310320093","host_organization_name":"MedCrave Group","host_organization_lineage":["https://openalex.org/P4310320093"],"host_organization_lineage_names":["MedCrave Group"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Genomics","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.15406/jig.2015.02.00016","doi":"https://doi.org/10.15406/jig.2015.02.00016","is_oa":true,"landing_page_url":"https://doi.org/10.15406/jig.2015.02.00016","pdf_url":"https://medcraveonline.com/JIG/JIG-02-00016.pdf","source":{"id":"https://openalex.org/S4210197293","display_name":"Journal of Investigative Genomics","issn_l":"2373-4469","issn":["2373-4469"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310320093","host_organization_name":"MedCrave Group","host_organization_lineage":["https://openalex.org/P4310320093"],"host_organization_lineage_names":["MedCrave Group"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Genomics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.504800021648407}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320320912","display_name":"Ministry of Education, Culture, Sports, Science and Technology","ror":"https://ror.org/048rj2z13"},{"id":"https://openalex.org/F4320321945","display_name":"Ministry of Health, Labour and Welfare","ror":"https://ror.org/03mwa7s65"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2166414189.pdf","grobid_xml":"https://content.openalex.org/works/W2166414189.grobid-xml"},"referenced_works_count":201,"referenced_works":["https://openalex.org/W46722564","https://openalex.org/W1542264887","https://openalex.org/W1543222911","https://openalex.org/W1599357356","https://openalex.org/W1619082318","https://openalex.org/W1699218328","https://openalex.org/W1744584399","https://openalex.org/W1780887781","https://openalex.org/W1907787906","https://openalex.org/W1964029688","https://openalex.org/W1964042787","https://openalex.org/W1965286266","https://openalex.org/W1967932847","https://openalex.org/W1969744517","https://openalex.org/W1970108031","https://openalex.org/W1970634015","https://openalex.org/W1974898488","https://openalex.org/W1975016572","https://openalex.org/W1975687045","https://openalex.org/W1976249889","https://openalex.org/W1977216890","https://openalex.org/W1980261795","https://openalex.org/W1982610079","https://openalex.org/W1985217779","https://openalex.org/W1986113476","https://openalex.org/W1987281769","https://openalex.org/W1988453500","https://openalex.org/W1988971922","https://openalex.org/W1989280564","https://openalex.org/W1989525083","https://openalex.org/W1990393476","https://openalex.org/W1990628815","https://openalex.org/W1991208268","https://openalex.org/W1995647101","https://openalex.org/W1998831398","https://openalex.org/W1999609473","https://openalex.org/W2000308032","https://openalex.org/W2001045428","https://openalex.org/W2003107065","https://openalex.org/W2003187705","https://openalex.org/W2003490769","https://openalex.org/W2003605043","https://openalex.org/W2003618511","https://openalex.org/W2004767063","https://openalex.org/W2005651997","https://openalex.org/W2008807546","https://openalex.org/W2009144078","https://openalex.org/W2009181219","https://openalex.org/W2009359564","https://openalex.org/W2010052786","https://openalex.org/W2010852376","https://openalex.org/W2010905714","https://openalex.org/W2011868984","https://openalex.org/W2011920499","https://openalex.org/W2013317908","https://openalex.org/W2013528653","https://openalex.org/W2014056397","https://openalex.org/W2016988352","https://openalex.org/W2021841682","https://openalex.org/W2021862696","https://openalex.org/W2022320294","https://openalex.org/W2023243075","https://openalex.org/W2023648355","https://openalex.org/W2025855695","https://openalex.org/W2026358891","https://openalex.org/W2026601158","https://openalex.org/W2026671856","https://openalex.org/W2030312576","https://openalex.org/W2031564845","https://openalex.org/W2031628458","https://openalex.org/W2031964319","https://openalex.org/W2034685372","https://openalex.org/W2034691490","https://openalex.org/W2036610074","https://openalex.org/W2038921819","https://openalex.org/W2039297214","https://openalex.org/W2040469179","https://openalex.org/W2041380439","https://openalex.org/W2042212253","https://openalex.org/W2043603340","https://openalex.org/W2044117548","https://openalex.org/W2048255587","https://openalex.org/W2053791813","https://openalex.org/W2053998703","https://openalex.org/W2054106515","https://openalex.org/W2056571800","https://openalex.org/W2058604878","https://openalex.org/W2059060273","https://openalex.org/W2061657172","https://openalex.org/W2061892272","https://openalex.org/W2063243374","https://openalex.org/W2063318299","https://openalex.org/W2063936397","https://openalex.org/W2064664075","https://openalex.org/W2070470572","https://openalex.org/W2071988705","https://openalex.org/W2073654740","https://openalex.org/W2073889874","https://openalex.org/W2074268886","https://openalex.org/W2074726646","https://openalex.org/W2075675982","https://openalex.org/W2075701979","https://openalex.org/W2076848886","https://openalex.org/W2076878129","https://openalex.org/W2079699077","https://openalex.org/W2080119769","https://openalex.org/W2081895491","https://openalex.org/W2085867232","https://openalex.org/W2087815448","https://openalex.org/W2088489316","https://openalex.org/W2090335524","https://openalex.org/W2093413487","https://openalex.org/W2094289021","https://openalex.org/W2097257853","https://openalex.org/W2097916967","https://openalex.org/W2098297062","https://openalex.org/W2098516117","https://openalex.org/W2099117011","https://openalex.org/W2101042581","https://openalex.org/W2102188028","https://openalex.org/W2102337459","https://openalex.org/W2103886753","https://openalex.org/W2106767328","https://openalex.org/W2108287852","https://openalex.org/W2112194054","https://openalex.org/W2113038023","https://openalex.org/W2114212941","https://openalex.org/W2114532236","https://openalex.org/W2115149771","https://openalex.org/W2117660195","https://openalex.org/W2118239316","https://openalex.org/W2118496707","https://openalex.org/W2118823143","https://openalex.org/W2118994793","https://openalex.org/W2119348293","https://openalex.org/W2119815283","https://openalex.org/W2119963935","https://openalex.org/W2122732537","https://openalex.org/W2125823125","https://openalex.org/W2125887220","https://openalex.org/W2127061112","https://openalex.org/W2127861463","https://openalex.org/W2128129890","https://openalex.org/W2128817844","https://openalex.org/W2129682060","https://openalex.org/W2130604388","https://openalex.org/W2131756425","https://openalex.org/W2132123037","https://openalex.org/W2133876293","https://openalex.org/W2134339178","https://openalex.org/W2135607950","https://openalex.org/W2136810882","https://openalex.org/W2136949432","https://openalex.org/W2137640371","https://openalex.org/W2138431129","https://openalex.org/W2139264112","https://openalex.org/W2140074138","https://openalex.org/W2140752483","https://openalex.org/W2141157874","https://openalex.org/W2141370108","https://openalex.org/W2142314840","https://openalex.org/W2143350291","https://openalex.org/W2144192604","https://openalex.org/W2146072922","https://openalex.org/W2147534732","https://openalex.org/W2147781659","https://openalex.org/W2147954894","https://openalex.org/W2148501765","https://openalex.org/W2150717653","https://openalex.org/W2150736858","https://openalex.org/W2151199680","https://openalex.org/W2152323039","https://openalex.org/W2153401206","https://openalex.org/W2154364607","https://openalex.org/W2154565932","https://openalex.org/W2154923417","https://openalex.org/W2155804510","https://openalex.org/W2155971914","https://openalex.org/W2157858109","https://openalex.org/W2157936723","https://openalex.org/W2158051523","https://openalex.org/W2158663316","https://openalex.org/W2159864549","https://openalex.org/W2162727919","https://openalex.org/W2163305569","https://openalex.org/W2164844447","https://openalex.org/W2165090547","https://openalex.org/W2165317622","https://openalex.org/W2165419403","https://openalex.org/W2165603141","https://openalex.org/W2165781226","https://openalex.org/W2216571997","https://openalex.org/W2323199654","https://openalex.org/W2334115597","https://openalex.org/W2336394440","https://openalex.org/W2337463877","https://openalex.org/W2605726858","https://openalex.org/W4230565756","https://openalex.org/W4237365554","https://openalex.org/W4300196896","https://openalex.org/W6660725899"],"related_works":["https://openalex.org/W2098824600","https://openalex.org/W2197459998","https://openalex.org/W2095998476","https://openalex.org/W2096236346","https://openalex.org/W1556285913","https://openalex.org/W7203833994","https://openalex.org/W4288064022","https://openalex.org/W2098894238","https://openalex.org/W2113239992","https://openalex.org/W2338415055"],"abstract_inverted_index":{"RNA":[0],"splicing":[1,20,24,34,42,61,71,95,104,112,124,137,150],"is":[2,11,79],"an":[3,65],"intricate":[4],"process":[5],"in":[6,75,114,126,139],"humans":[7],"and":[8,22,36,59,91,97,152],"higher":[9],"metazoans.Splicing":[10],"regulated":[12],"through":[13],"multifaceted":[14],"coordinated":[15],"factors,":[16],"such":[17,84],"as":[18,85],"cis-acting":[19,33],"code":[21,35,50,113],"RNAbinding":[23],"trans-factors":[25,43,62],"that":[26],"associate":[27],"or":[28],"compete":[29],"with":[30,40,93],"ribonucleoproteins":[31],"(RNPs).Individual":[32],"their":[37],"functional":[38],"coordination":[39],"cognate":[41],"still":[44],"remain":[45],"elusive":[46],"mostgenes,":[47],"because":[48],"these":[49],"are":[51],"comprised":[52],"of":[53,103,110,123,146,149,162,170],"highly":[54],"degenerative":[55],"short":[56],"sequence":[57,87],"motifs":[58],"multiple":[60],"can":[63],"recognize":[64],"identical":[66],"motif.In":[67],"addition,":[68],"a":[69],"specific":[70],"motif":[72],"functions":[73],"differentially":[74],"different":[76],"genes,":[77],"which":[78,165],"determined":[80],"by":[81],"additional":[82],"factors":[83],"neighboring":[86],"context,":[88],"cell":[89],"types":[90],"association/competition":[92],"other":[94],"trans-factors.Genetic":[96],"cellular":[98],"alterations":[99],"compromising":[100],"the":[101,120,158],"fidelity":[102],"processes":[105],"provoke":[106],"many":[107],"human":[108,115,163],"diseases.Analyses":[109],"abnormal":[111],"diseases":[116],"not":[117],"only":[118],"uncover":[119],"underlying":[121,159],"maladies":[122],"regulations":[125],"pathological":[127],"conditions,":[128],"but":[129],"also":[130],"allow":[131],"us":[132],"to":[133,156,168],"gain":[134],"insight":[135],"into":[136],"mechanisms":[138,161],"physiological":[140],"conditions.This":[141],"review":[142],"introduces":[143],"accumulating":[144],"knowledge":[145],"numerous":[147],"modes":[148],"aberrations":[151],"provides":[153],"critical":[154],"information":[155],"understand":[157],"patho":[160],"diseases,":[164],"hopefully":[166],"leads":[167],"development":[169],"rational":[171],"therapies.":[172]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
