{"created":"2024-04-26T07:21:04.825343+00:00","id":2000351,"links":{},"metadata":{"_buckets":{"deposit":"1f3f4602-3daa-4f8b-aa17-3364af67e24c"},"_deposit":{"created_by":11,"id":"2000351","owner":"11","owners":[11],"pid":{"revision_id":0,"type":"depid","value":"2000351"},"status":"published"},"_oai":{"id":"oai:hirosaki.repo.nii.ac.jp:02000351","sets":["557:561:1713851803406"]},"author_link":[],"control_number":"2000351","item_3_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2024-03-28","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1-4","bibliographicPageEnd":"27","bibliographicPageStart":"17","bibliographicVolumeNumber":"74","bibliographic_titles":[{"bibliographic_title":"弘前医学","bibliographic_titleLang":"ja"},{"bibliographic_title":"Hirosaki Medical Journal","bibliographic_titleLang":"en"}]}]},"item_3_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Tuberous sclerosis （TSC） is an autosomal dominant genetic disorder mainly caused by mutations in the TSC1 and TSC2 genes. In this study, we performed sequencing analysis of target genes in 11 clinically diagnosed cases, including 10 definite cases and one possible case. Genetic mutations were detected in 7 of 11 patients（ 64%）（ TSC1 in one case and TSC2 in six cases）, of whom two patients had novel TSC2 mutations. One case had a three-nucleotide insertion mutation in the GTPase-activating protein domain and the other had a mutation causing a 56-nucleotide deletion in the 19th exon transcript, which were considered “likely pathogenic” and “pathogenic”, respectively. No mutations were found in genes related to the mTOR pathway, including AKT1, AKT2, AKT3, and PTEN. Genetic analysis is a useful adjunct diagnostic tool for TSC.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_3_publisher_35":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"弘前大学大学院医学研究科","subitem_publisher_language":"ja"}]},"item_3_radio_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_radio_item":"Article","subitem_radio_language":"en"}]},"item_3_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00211444","subitem_source_identifier_type":"NCID"}]},"item_3_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2434-4656","subitem_source_identifier_type":"EISSN"}]},"item_3_text_4":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, National Hospital Organization Aomori National Hospital, Aomori, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, National Hospital Organization Aomori National Hospital, Aomori, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, National Hospital Organization Aomori National Hospital, Aomori, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan"},{"subitem_text_language":"en","subitem_text_value":"Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan"}]},"item_3_version_type_18":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Yohei, Yamamoto","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Tatsuya, Yamamoto","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Ko, Kudo","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Tsutomu, Toki","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Rika, Kanezaki","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Tatsuya, Ito","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Tomoe, Shinagawa","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Arisa, Asari","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Hidenori, Umetsu","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Hiroshi, Fujita","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Etsuro, Ito","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kiminori, Terui","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2024-04-26"}],"filename":"Hirosaki Med J 74-1-4_17.pdf","filesize":[{"value":"689 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://hirosaki.repo.nii.ac.jp/record/2000351/files/Hirosaki Med J 74-1-4_17.pdf"},"version_id":"244e74e4-4756-4397-b116-870571ce0ccc"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"TSC1","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"TSC2","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"tuberous sclerosis complex","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"genotype-phenotype correlations","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"splice-acceptor site","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Mutational analysis by targeted sequencing in 11 cases of tuberous sclerosis","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Mutational analysis by targeted sequencing in 11 cases of tuberous sclerosis","subitem_title_language":"en"}]},"item_type_id":"3","owner":"11","path":["1713851803406"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2024-04-26"},"publish_date":"2024-04-26","publish_status":"0","recid":"2000351","relation_version_is_last":true,"title":["Mutational analysis by targeted sequencing in 11 cases of tuberous sclerosis"],"weko_creator_id":"11","weko_shared_id":-1},"updated":"2024-11-20T00:30:14.262230+00:00"}