{"created":"2023-06-20T16:57:53.233411+00:00","id":16434,"links":{},"metadata":{"_buckets":{"deposit":"c8c738e8-90cf-4346-99d3-bb7d27be1d46"},"_deposit":{"created_by":3,"id":"16434","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"16434"},"status":"published"},"_oai":{"id":"oai:twinkle.repo.nii.ac.jp:00016434","sets":["140:1307:1308:1912:1913"]},"author_link":["259578","259577"],"item_10001_alternative_title_1":{"attribute_name":"別タイトル","attribute_value_mlt":[{"subitem_alternative_title":"Gene Mutation, Function and Cellular Localization of Endothelin-B Receptor in a Case of Hirschsprung's Disease"}]},"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1997-02-25","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1/2","bibliographicPageEnd":"23","bibliographicPageStart":"15","bibliographicVolumeNumber":"67","bibliographic_titles":[{"bibliographic_title":"東京女子医科大学雑誌"}]}]},"item_10001_creator_2":{"attribute_name":"著者名","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"石井, かやの"}],"nameIdentifiers":[{}]}]},"item_10001_date_25":{"attribute_name":"受付日付","attribute_value_mlt":[{"subitem_date_issued_datetime":"2010-08-10","subitem_date_issued_type":"Created"}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Hirschsprung's disease (HSCR) is characterized by a congenital absence of enteric ganglia in the distal colon and a failure of gastrointestinal tract innervation. Recently, one of the susceptibility loci of HSCR was mapped to human chromosome 13q22, which includes the endothelin-B (ETB) receptor gene. In analyzing the ETB receptor cDNA in patients with HSCR, a point mutation of exon 4 and a deletion of exon 5 were recognized in one of three cases studied. The wild and mutant receptor cDNA were cloned and transfected into murine fibroblast L cells, and compared in terms of binding ability and cellular localization. An [^<125>I]-endothelin (ET)-1 binding study using intact cells showed that the mutant receptor can not bind with ET-1. By constructing a c-myc-tagged receptor, immunohistochemical analysis confirmed that the mutant receptor can be expressed as a protein. Furthermore, the immunohistochemical study showed a marked difference in cellular localization between the wild and mutant receptors; the wild type ETB receptor is localized on the cell surface whereas the mutant receptor has a diffuse intracellular distribution. These results suggest that the structural alteration of the ETB receptor observed in this HSCR case may result in changes in the cellular localization and binding capacity of the receptor, such that the mutant receptor can not transduce the ET signal. The present study illustrates one of the potential molecular genetic mechanisms underlying HSCR.","subitem_description_type":"Abstract"}]},"item_10001_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"259578","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ISHII, Kayano"}]}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"東京女子医科大学学会"}]},"item_10001_source_id_11":{"attribute_name":"NCID","attribute_value_mlt":[{"subitem_source_identifier":"AN00161368","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0040-9022","subitem_source_identifier_type":"ISSN"}]},"item_10001_text_35":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"東京女子医科大学小児科学教室"}]},"item_10001_version_type_20":{"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_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-03-27"}],"displaytype":"detail","filename":"KJ00006024944.pdf","filesize":[{"value":"787.7 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"KJ00006024944.pdf","url":"https://twinkle.repo.nii.ac.jp/record/16434/files/KJ00006024944.pdf"},"version_id":"759dc7b9-3477-4a17-8e48-444aaad5f68a"}]},"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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Hirschsprung病患者におけるエンドセリンB受容体の遺伝子変異,機能と細胞内局在に関する研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Hirschsprung病患者におけるエンドセリンB受容体の遺伝子変異,機能と細胞内局在に関する研究"}]},"item_type_id":"10001","owner":"3","path":["1913"],"pubdate":{"attribute_name":"公開日","attribute_value":"2010-08-10"},"publish_date":"2010-08-10","publish_status":"0","recid":"16434","relation_version_is_last":true,"title":["Hirschsprung病患者におけるエンドセリンB受容体の遺伝子変異,機能と細胞内局在に関する研究"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2023-06-20T23:11:07.222697+00:00"}