{"created":"2024-10-25T09:41:41.639154+00:00","id":2002956,"links":{},"metadata":{"_buckets":{"deposit":"b876550f-b072-48de-9c0b-172122f9c25c"},"_deposit":{"created_by":7,"id":"2002956","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"2002956"},"status":"published"},"_oai":{"id":"oai:tokushima-u.repo.nii.ac.jp:02002956","sets":["1713853213384:1713853296295:1716267877313:1716268556148"]},"author_link":["1252","272","458","1695","444","323"],"item_10001_alternative_title_1":{"attribute_name":"タイトル別表記","attribute_value_mlt":[{"subitem_alternative_title":"非症候群性歯牙欠損症における新規PAX9遺伝子変異","subitem_alternative_title_language":"ja"}]},"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2014-01-16","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"3","bibliographicPageEnd":"249","bibliographicPageStart":"245","bibliographicVolumeNumber":"93","bibliographic_titles":[{"bibliographic_title":"Journal of Dental Research","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"PAX9 is a transcription factor expressed in the tooth mesenchyme during tooth morphogenesis. In Pax9-null mice, tooth development is arrested at the bud stage. In humans, heterozygous mutations in PAX9 have been associated with non-syndromic tooth agenesis, predominantly in the molars. Here, we report 2 novel mutations in the paired domain of PAX9, a three-nucleotide deletion (73-75 delATC) and a missense mutation (C146T), in two unrelated Japanese patients with non-syndromic tooth agenesis. The individual with the 73-75del ATC mutation was missing all maxillary molars and mandibular second and third molars. The individual with the C146T mutation was missing the mandibular central incisors, maxillary second premolars, and first molars, along with all second and third molars. Both mutations affected amino acids that are highly conserved among different species and are critical for DNA binding. When both mutants were transfected to COS7 cells, nuclear localization of PAX9 proteins was not affected. However, reduced expression of the mutant proteins and almost no transcriptional activity of the target BMP4 gene were observed, suggesting haploinsufficiency of PAX9 as the cause of nonsyndromic tooth agenesis.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"International & American Associations for Dental Research","subitem_publisher_language":"en"},{"subitem_publisher":"Sage","subitem_publisher_language":"en"}]},"item_10001_source_id_9":{"attribute_name":"収録物ID","attribute_value_mlt":[{"subitem_source_identifier":"00220345","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"15440591","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"AA00696534","subitem_source_identifier_type":"NCID"}]},"item_10001_version_type_20":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_be7fb7dd8ff6fe43","subitem_version_type":"NA"}]},"item_1714461018643":{"attribute_name":"報告番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第2942号"}]},"item_1714461102074":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士（歯学）","subitem_degreename_language":"ja"}]},"item_1714461118377":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2016-03-23"}]},"item_1714461137393":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"徳島大学"}]}]},"item_1715043197608":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access"}]},"item_1718868208704":{"attribute_name":"備考","attribute_value_mlt":[{"subitem_textarea_language":"ja","subitem_textarea_value":"内容要旨・審査要旨・論文本文の公開:\n内容要旨 : LID201606211009.pdf\n審査要旨 : LID201606211010.pdf\n論文本文 : LID201607221001.pdf\n本論文は, 著者S.N. Mitsuiの学位論文として提出され, 学位審査・授与の対象となっている。\n学位授与者所属 : 徳島大学大学院口腔科学教育部（口腔科学専攻）"}]},"item_1718868303842":{"attribute_name":"学位記番号","attribute_value_mlt":[{"subitem_text_language":"ja","subitem_text_value":"甲口第407号"}]},"item_1722929371688":{"attribute_name":"出版社版DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_language":"ja","subitem_relation_name_text":"10.1177/0022034513519801"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1177/0022034513519801","subitem_relation_type_select":"DOI"}}]},"item_1723180141928":{"attribute_name":"EID","attribute_value_mlt":[{"subitem_identifier_type":"URI","subitem_identifier_uri":"275594"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"ミツイ アカギ, シルビア ナオミ","creatorNameLang":"ja"},{"creatorName":"ミツイ アカギ, シルビア ナオミ","creatorNameLang":"ja-Kana"},{"creatorName":"Mitsui Akagi, Silvia Naomi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"泰江, 章博","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"1252","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"増田, 清士","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"272","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"渡邉, 佳一郎","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"458","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"堀内, 信也","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"1695","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"井本, 逸勢","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"444","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"田中, 栄二","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"323","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2016-06-22"}],"displaytype":"detail","filename":"LID201606211009.pdf","filesize":[{"value":"81.7 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"objectType":"abstract","url":"https://tokushima-u.repo.nii.ac.jp/record/2002956/files/LID201606211009.pdf"},"version_id":"88ae80d3-38fd-49c0-916a-b5bf694fe9fe"},{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2016-06-22"}],"displaytype":"detail","filename":"LID201606211010.pdf","filesize":[{"value":"317 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"objectType":"other","url":"https://tokushima-u.repo.nii.ac.jp/record/2002956/files/LID201606211010.pdf"},"version_id":"603fb9d1-50cf-47dc-9776-e7d7ea1db308"},{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2016-07-23"}],"displaytype":"detail","filename":"LID201607221001.pdf","filesize":[{"value":"2.37 MB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://tokushima-u.repo.nii.ac.jp/record/2002956/files/LID201607221001.pdf"},"version_id":"ed0e2cfa-a832-48e8-a220-40d013f66c3f"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Oligodontia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"paired domain","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"transcription factor","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Bmp4 promoter assay","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"novel mutations","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"haploinsufficiency","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":"doctoral thesis","resourceuri":"http://purl.org/coar/resource_type/c_db06"}]},"item_title":"Novel PAX9 Mutations Cause Non-syndromic Tooth Agenesis","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Novel PAX9 Mutations Cause Non-syndromic Tooth Agenesis","subitem_title_language":"en"}]},"item_type_id":"40001","owner":"7","path":["1716268556148"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2016-06-22"},"publish_date":"2016-06-22","publish_status":"0","recid":"2002956","relation_version_is_last":true,"title":["Novel PAX9 Mutations Cause Non-syndromic Tooth Agenesis"],"weko_creator_id":"7","weko_shared_id":-1},"updated":"2024-10-25T09:41:53.500419+00:00"}