{"id":"https://openalex.org/W7208650569","doi":null,"title":"\u65e5\u672c\u4eba\u96c6\u56e3\u306b\u304a\u3051\u308b\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u304a\u3088\u3073\u7d71\u5408\u5931\u8abf\u75c7\u3068GAP43\u306e\u518d\u914d\u5217\u6c7a\u5b9a\u304a\u3088\u3073\u95a2\u9023\u5206\u6790","display_name":"\u65e5\u672c\u4eba\u96c6\u56e3\u306b\u304a\u3051\u308b\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u304a\u3088\u3073\u7d71\u5408\u5931\u8abf\u75c7\u3068GAP43\u306e\u518d\u914d\u5217\u6c7a\u5b9a\u304a\u3088\u3073\u95a2\u9023\u5206\u6790","publication_year":null,"publication_date":null,"ids":{"openalex":"https://openalex.org/W7208650569"},"language":"en","primary_location":{"id":"pmh:oai:irdb.nii.ac.jp:01100:0006460669","doi":null,"is_oa":true,"landing_page_url":"https://niigata-u.repo.nii.ac.jp/records/2001404","pdf_url":"https://niigata-u.repo.nii.ac.jp/record/2001404/files/r5nmk1154.pdf","source":{"id":"https://openalex.org/S7407056385","display_name":"Institutional Repositories DataBase (IRDB)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I184597095","host_organization_name":"National Institute of Informatics","host_organization_lineage":["https://openalex.org/I184597095"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"doctoral thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://niigata-u.repo.nii.ac.jp/record/2001404/files/r5nmk1154.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018755731","display_name":"Reza K. Arta","orcid":"https://orcid.org/0000-0002-7782-947X","observed_orcids":["https://orcid.org/0000-0002-7782-947X"]},"institutions":[{"id":"https://openalex.org/I71395657","display_name":"Niigata University","ror":"https://ror.org/04ww21r56","country_code":"JP","type":"education","lineage":["https://openalex.org/I71395657"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Arta, Reza Kurniawan","raw_affiliation_strings":["Department of Psychiatry , Niigata University Graduate School of Medical and Dental Sciences , 757 Asahimachidori-ichibancho , Chuo-ku , Niigata , 951-8510 , Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry , Niigata University Graduate School of Medical and Dental Sciences , 757 Asahimachidori-ichibancho , Chuo-ku , Niigata , 951-8510 , Japan","institution_ids":["https://openalex.org/I71395657"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5018755731"],"corresponding_institution_ids":["https://openalex.org/I71395657"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"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/T10106","display_name":"Autism Spectrum Disorder Research","score":0.9810000061988831,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10106","display_name":"Autism Spectrum Disorder Research","score":0.9810000061988831,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.009800000116229057,"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"}},{"id":"https://openalex.org/T10023","display_name":"Schizophrenia research and treatment","score":0.005200000014156103,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/growth-associated-protein-43","display_name":"growth-associated protein 43","score":0.9150000214576721},{"id":"https://openalex.org/keywords/gap-43","display_name":"GAP-43","score":0.9869999885559082},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.9919999837875366},{"id":"https://openalex.org/keywords/schizophrenia","display_name":"schizophrenia","score":1.0},{"id":"https://openalex.org/keywords/rare-missense-variants","display_name":"rare missense variants","score":0.7950000166893005},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.9049999713897705},{"id":"https://openalex.org/keywords/japanese-population","display_name":"Japanese population","score":0.8059999942779541},{"id":"https://openalex.org/keywords/synaptic-proteins","display_name":"synaptic proteins","score":0.4959999918937683},{"id":"https://openalex.org/keywords/genetic-association","display_name":"genetic association","score":0.44600000977516174}],"concepts":[{"id":"https://openalex.org/C2776412080","wikidata":"https://www.wikidata.org/wiki/Q7431605","display_name":"Schizophrenia (object-oriented programming)","level":2,"score":0.593500018119812},{"id":"https://openalex.org/C2778538070","wikidata":"https://www.wikidata.org/wiki/Q1436063","display_name":"Autism spectrum disorder","level":3,"score":0.5722000002861023},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5584999918937683},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.5418000221252441},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5048999786376953},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.48579999804496765},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.41760000586509705},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.40779998898506165},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.39719998836517334},{"id":"https://openalex.org/C90770895","wikidata":"https://www.wikidata.org/wiki/Q14906268","display_name":"Gap-43 protein","level":3,"score":0.39399999380111694},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.36039999127388},{"id":"https://openalex.org/C2779727114","wikidata":"https://www.wikidata.org/wiki/Q170082","display_name":"Psychosis","level":2,"score":0.3571000099182129},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.34860000014305115},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.3476000130176544},{"id":"https://openalex.org/C91779695","wikidata":"https://www.wikidata.org/wiki/Q3780824","display_name":"Coding region","level":3,"score":0.314300000667572},{"id":"https://openalex.org/C142853389","wikidata":"https://www.wikidata.org/wiki/Q744778","display_name":"Association (psychology)","level":2,"score":0.3034000098705292},{"id":"https://openalex.org/C10162356","wikidata":"https://www.wikidata.org/wiki/Q1135939","display_name":"Pathophysiology","level":2,"score":0.29030001163482666},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.2768999934196472},{"id":"https://openalex.org/C2778941822","wikidata":"https://www.wikidata.org/wiki/Q501571","display_name":"Catatonia","level":3,"score":0.2700999975204468},{"id":"https://openalex.org/C67636389","wikidata":"https://www.wikidata.org/wiki/Q784237","display_name":"Genetic predisposition","level":3,"score":0.26919999718666077}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:irdb.nii.ac.jp:01100:0006460669","doi":null,"is_oa":true,"landing_page_url":"https://niigata-u.repo.nii.ac.jp/records/2001404","pdf_url":"https://niigata-u.repo.nii.ac.jp/record/2001404/files/r5nmk1154.pdf","source":{"id":"https://openalex.org/S7407056385","display_name":"Institutional Repositories DataBase (IRDB)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I184597095","host_organization_name":"National Institute of Informatics","host_organization_lineage":["https://openalex.org/I184597095"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"doctoral thesis"}],"best_oa_location":{"id":"pmh:oai:irdb.nii.ac.jp:01100:0006460669","doi":null,"is_oa":true,"landing_page_url":"https://niigata-u.repo.nii.ac.jp/records/2001404","pdf_url":"https://niigata-u.repo.nii.ac.jp/record/2001404/files/r5nmk1154.pdf","source":{"id":"https://openalex.org/S7407056385","display_name":"Institutional Repositories DataBase (IRDB)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I184597095","host_organization_name":"National Institute of Informatics","host_organization_lineage":["https://openalex.org/I184597095"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"doctoral thesis"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G2583553831","display_name":"Effects of growth-associated protein 43 (GAP43) on neurodevelopmental disorders","funder_award_id":"17K16371","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7208650569.pdf","grobid_xml":"https://content.openalex.org/works/W7208650569.grobid-xml"},"referenced_works_count":43,"referenced_works":["https://openalex.org/W1963490696","https://openalex.org/W1981783972","https://openalex.org/W1994461253","https://openalex.org/W2003432553","https://openalex.org/W2007270186","https://openalex.org/W2007364500","https://openalex.org/W2022715985","https://openalex.org/W2034389137","https://openalex.org/W2037622184","https://openalex.org/W2042443917","https://openalex.org/W2056058534","https://openalex.org/W2059145105","https://openalex.org/W2060855762","https://openalex.org/W2067266085","https://openalex.org/W2068943457","https://openalex.org/W2079376079","https://openalex.org/W2082074451","https://openalex.org/W2092732735","https://openalex.org/W2105097410","https://openalex.org/W2120893200","https://openalex.org/W2124551632","https://openalex.org/W2126718294","https://openalex.org/W2159146588","https://openalex.org/W2526546796","https://openalex.org/W2753714995","https://openalex.org/W2769544142","https://openalex.org/W2890839967","https://openalex.org/W2894887347","https://openalex.org/W2895179882","https://openalex.org/W2903657015","https://openalex.org/W2905452503","https://openalex.org/W2912434211","https://openalex.org/W2923203084","https://openalex.org/W2946936654","https://openalex.org/W2955503846","https://openalex.org/W2991511360","https://openalex.org/W2995971356","https://openalex.org/W3016176628","https://openalex.org/W3017004584","https://openalex.org/W3035254462","https://openalex.org/W3044594590","https://openalex.org/W3047566827","https://openalex.org/W4223433728"],"related_works":["https://openalex.org/W3124676269","https://openalex.org/W2049036864","https://openalex.org/W2056058534","https://openalex.org/W4402046633","https://openalex.org/W2412282165","https://openalex.org/W3045606250","https://openalex.org/W2769523330","https://openalex.org/W4285013403","https://openalex.org/W3049736334","https://openalex.org/W2915067238"],"abstract_inverted_index":{"Background:":[0],"Growth-associated":[1],"protein":[2,7],"43":[3],"(GAP43),":[4],"a":[5,44,106],"synaptic":[6,13],"involved":[8],"in":[9,17,35,43,61,75,93,113,126,141,164],"axonal":[10],"growth":[11],"and":[12,25,41,50,68,82,100],"plasticity,":[14],"is":[15],"implicated":[16],"the":[18,29,36,57,124,142,153,165],"pathophysiology":[19],"of":[20,31,39,91,155],"autism":[21],"spectrum":[22],"disorder":[23],"(ASD)":[24],"schizophrenia.":[26],"To":[27],"examine":[28],"role":[30],"rare":[32,107,156],"GAP43":[33,58,157],"variants":[34,158],"genetic":[37],"etiology":[38],"ASD":[40,63,77,95,115,138,160],"schizophrenia":[42,66,80,98,140,162],"Japanese":[45,166],"population,":[46],"we":[47,55,72,86,120],"performed":[48,87],"resequencing":[49],"association":[51,89,143],"analysis.":[52,144],"Methods:":[53],"First,":[54],"resequenced":[56],"coding":[59],"region":[60],"295":[62],"patients,":[64,78,96],"323":[65],"patients":[67,81,99],"304":[69],"controls.":[70,84,102],"Second,":[71],"genotyped":[73],"rs561268447":[74,92],"273":[76],"1,150":[79],"1,022":[83],"Third,":[85],"an":[88,114],"analysis":[90],"568":[94],"1,473":[97],"10,127":[101],"Results:":[103],"We":[104],"identified":[105],"putatively":[108],"damaging":[109],"missense":[110],"variant":[111,125,132],"(rs561268447)":[112],"patient":[116],"via":[117,129],"resequencing.":[118],"However,":[119],"did":[121],"not":[122,134,149],"detect":[123],"2,445":[127],"individuals":[128],"gen-otyping.":[130],"The":[131],"was":[133],"significantly":[135],"associated":[136],"with":[137],"or":[139,161],"Conclusion:":[145],"This":[146],"study":[147],"does":[148],"provide":[150],"evidence":[151],"for":[152],"contribution":[154],"to":[159],"susceptibility":[163],"population.":[167]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-09-04T00:00:00"}