{"_buckets": {"deposit": "aee1cfed-b5e4-4af4-807e-f5a3ecc3ba58"}, "_deposit": {"id": "5863", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "5863"}, "status": "published"}, "_oai": {"id": "oai:niigata-u.repo.nii.ac.jp:00005863", "sets": ["455", "562"]}, "item_6_alternative_title_1": {"attribute_name": "その他のタイトル", "attribute_value_mlt": [{"subitem_alternative_title": "自閉スペクトラム症におけるCLN8遺伝子のリシークエンスおよび関連解析"}]}, "item_6_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2017-03-23", "bibliographicIssueDateType": "Issued"}, "bibliographic_titles": [{}]}]}, "item_6_date_granted_51": {"attribute_name": "学位授与年月日", "attribute_value_mlt": [{"subitem_dategranted": "2017-03-23"}]}, "item_6_degree_grantor_49": {"attribute_name": "学位授与機関", "attribute_value_mlt": [{"subitem_degreegrantor": [{"subitem_degreegrantor_name": "新潟大学"}]}]}, "item_6_degree_name_48": {"attribute_name": "学位名", "attribute_value_mlt": [{"subitem_degreename": "博士（医学）"}]}, "item_6_description_4": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "Rare variations contribute substantially to autism spectrum disorder (ASD) liability. We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD. To further investigate the role of CLN8 in the genetic etiology of ASD, we performed resequencing and association analysis of CLN8 with ASD in a Japanese population. Resequencing the CLN8 coding region in 256 ASD patients identified five rare missense variations: g.1719291G\u003eA (R24H), rs201670636 (F39L), rs116605307 (R97H), rs143701028 (T108M) and rs138581191 (N152S). These variations were genotyped in 568 patients (including the resequenced 256 patients) and 1017 controls. However, no significant association between these variations and ASD was identified. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population", "subitem_description_type": "Abstract"}]}, "item_6_description_5": {"attribute_name": "内容記述", "attribute_value_mlt": [{"subitem_description": "学位の種類: 博士（医学）. 報告番号: 甲第4275号. 学位記番号: 新大院博（医）甲第753号. 学位授与年月日: 平成29年3月23日", "subitem_description_type": "Other"}, {"subitem_description": "PLoS One. 2015 Dec 14;10(12):e0144624", "subitem_description_type": "Other"}]}, "item_6_description_53": {"attribute_name": "学位記番号", "attribute_value_mlt": [{"subitem_description": "新大院博（医）甲第753号", "subitem_description_type": "Other"}]}, "item_6_dissertation_number_52": {"attribute_name": "学位授与番号", "attribute_value_mlt": [{"subitem_dissertationnumber": "13101甲第4275号"}]}, "item_6_full_name_3": {"attribute_name": "著者別名", "attribute_value_mlt": [{"nameIdentifiers": [{"nameIdentifier": "51003", "nameIdentifierScheme": "WEKO"}], "names": [{"name": "井上, 絵美子"}]}]}, "item_6_publisher_7": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "新潟大学"}]}, "item_6_relation_14": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type_id": {"subitem_relation_type_id_text": "info:doi/10.1371/journal.pone.0144624", "subitem_relation_type_select": "DOI"}}]}, "item_6_select_19": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_select_item": "ETD"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Inoue, Emiko"}], "nameIdentifiers": [{"nameIdentifier": "51002", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2019-08-05"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "h28nmk753.pdf", "filesize": [{"value": "238.9 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 238900.0, "url": {"label": "本文", "url": "https://niigata-u.repo.nii.ac.jp/record/5863/files/h28nmk753.pdf"}, "version_id": "f2fb3d7a-5185-44a4-aae0-674d51902b14"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2019-08-05"}], "displaytype": "detail", "download_preview_message": "", "file_order": 1, "filename": "h28nmk753_a.pdf", "filesize": [{"value": "179.9 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 179900.0, "url": {"label": "要旨", "url": "https://niigata-u.repo.nii.ac.jp/record/5863/files/h28nmk753_a.pdf"}, "version_id": "da56f716-7e8f-409d-b95c-13916b87b269"}]}, "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": "thesis", "resourceuri": "http://purl.org/coar/resource_type/c_46ec"}]}, "item_title": "Resequencing and association analysis of CLN8 with autism spectrum disorder in a Japanese population.", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Resequencing and association analysis of CLN8 with autism spectrum disorder in a Japanese population."}, {"subitem_title": "Resequencing and association analysis of CLN8 with autism spectrum disorder in a Japanese population.", "subitem_title_language": "en"}]}, "item_type_id": "6", "owner": "1", "path": ["455", "562"], "permalink_uri": "http://hdl.handle.net/10191/47620", "pubdate": {"attribute_name": "公開日", "attribute_value": "2018-09-11"}, "publish_date": "2018-09-11", "publish_status": "0", "recid": "5863", "relation": {}, "relation_version_is_last": true, "title": ["Resequencing and association analysis of CLN8 with autism spectrum disorder in a Japanese population."], "weko_shared_id": 2}