{"created":"2023-06-19T10:40:54.904218+00:00","id":475,"links":{},"metadata":{"_buckets":{"deposit":"0cb2bb27-a69f-4da5-8eb9-5d6a1939333b"},"_deposit":{"created_by":3,"id":"475","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"475"},"status":"published"},"_oai":{"id":"oai:shiga-med.repo.nii.ac.jp:00000475","sets":["6:9:189"]},"author_link":["1766","1764","1765","1767","1768","133","130"],"item_3_alternative_title_18":{"attribute_name":"その他の言語のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Genetic defect of Crigler-Najjar syndrome type I detected in a Japanese patient"}]},"item_3_alternative_title_19":{"attribute_name":"タイトル（ヨミ）","attribute_value_mlt":[{"subitem_alternative_title":"タイシツセイ オウダン Crigler Najjar ショウコウグン Iガタ ノ イデンシ イジョウ ノ カイセキ"}]},"item_3_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1994-03","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"7","bibliographicPageStart":"1","bibliographicVolumeNumber":"5","bibliographic_titles":[{"bibliographic_title":"滋賀医科大学基礎学研究"}]}]},"item_3_description_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"Departmental Bulletin Paper","subitem_description_type":"Other"}]},"item_3_description_5":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"Patients with CriglerNajjar syndrome type I inherit an autosomal recessive trait for unconjugated hyperbilirubinemia, which is characterized by a complete absence of bilirubin UDP-glucuronosyltransferase ( UDPGT ) activity. cDNAs encoding two human bilirubin UDPGT isoforms (Brl and Br2) were identified. Brl is constitutively expressed in hepatocytes, but Br2 is expressed by the induction of phenobarbital. Both cDNAs have a\ncommon region corresponding to exons 2-5 of a gene (Gnt -1) which encodes a family of\nUDPGT isoenzymes. Exon 1 is unique to each UDPGT. No base change was detected in the common exons and intron-exon boundaries m our patient. However, the exon 1 of Brl\nin the patient has a single nucleotide substitution of C to A at base position 855, and the substitution resulted in stop codon, suggesting the synthesis of an inactive truncated protein missing C-terminal 253 amino acid residues. No base change was detected in the exon 1 of Br2. These results suggest that besides the mutation of the exon 1 of Brl, the patient has an additional defect in the region regulating the expression of Br2 0r a gene encoding a\nprotein related to phenobarbital induction.","subitem_description_type":"Other"}]},"item_3_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"滋賀医科大学"}]},"item_3_source_id_9":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN10217414","subitem_source_identifier_type":"NCID"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"佐藤, 浩"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"青野, 幸子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"笹岡, 佳子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"山本, 和雄"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"深野, 美也"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"小祝, 修"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"土井田, 幸郎"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-02-16"}],"displaytype":"detail","filename":"kiso05p001.pdf","filesize":[{"value":"5.1 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"kiso05p001.pdf","url":"https://shiga-med.repo.nii.ac.jp/record/475/files/kiso05p001.pdf"},"version_id":"4b4e5c7b-2c36-4e07-b297-9c3486f66b67"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"体質性黄疸（Crigler-Najjar症候群I型）の遺伝子異常の解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"体質性黄疸（Crigler-Najjar症候群I型）の遺伝子異常の解析"}]},"item_type_id":"3","owner":"3","path":["189"],"pubdate":{"attribute_name":"公開日","attribute_value":"2012-08-26"},"publish_date":"2012-08-26","publish_status":"0","recid":"475","relation_version_is_last":true,"title":["体質性黄疸（Crigler-Najjar症候群I型）の遺伝子異常の解析"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-06-19T11:28:27.568768+00:00"}