{"created":"2025-02-18T10:00:14.977867+00:00","id":2005063,"links":{},"metadata":{"_buckets":{"deposit":"e6496bc6-9341-49d4-a542-e96869b84fb7"},"_deposit":{"created_by":41,"id":"2005063","owners":[41],"pid":{"revision_id":0,"type":"depid","value":"2005063"},"status":"published"},"_oai":{"id":"oai:hiroshima.repo.nii.ac.jp:02005063","sets":["1730444908512:1730444915582"]},"author_link":[],"item_1617186331708":{"attribute_name":"Title","attribute_value_mlt":[{"subitem_title":"Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1","subitem_title_language":"en"},{"subitem_title":"Kir2.1に新規ミスセンス変異（L94P）を認める常染色体劣性遺伝形式のAndersen-Tawil症候群","subitem_title_language":"ja"}]},"item_1617186419668":{"attribute_name":"Creator","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"竹田, 育子","creatorNameLang":"ja"},{"creatorName":"Takeda, Ikuko","creatorNameLang":"en"}],"familyNames":[{"familyName":"竹田","familyNameLang":"ja"},{"familyName":"Takeda","familyNameLang":"en"}],"givenNames":[{"givenName":"育子","givenNameLang":"ja"},{"givenName":"Ikuko","givenNameLang":"en"}]}]},"item_1617186476635":{"attribute_name":"Access Rights","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_1617186499011":{"attribute_name":"Rights","attribute_value_mlt":[{"subitem_rights":"Copyright(c) by Author"}]},"item_1617186609386":{"attribute_name":"Subject","attribute_value_mlt":[{"subitem_subject":"Andersen-Tawil syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"KCNJ2","subitem_subject_scheme":"Other"},{"subitem_subject":"Kir2.1","subitem_subject_scheme":"Other"},{"subitem_subject":"autosomal recessive","subitem_subject_scheme":"Other"},{"subitem_subject":"patch clamp","subitem_subject_scheme":"Other"},{"subitem_subject":"490","subitem_subject_scheme":"NDC"}]},"item_1617186626617":{"attribute_name":"Description","attribute_value_mlt":[{"subitem_description":"Aim: Dominant negative mutations of the inwardly rectifying K+ channel Kir2.1 cause Andersen-Tawil syndrome, an autosomal dominant disorder. Here, we identified a novel Kir2.1 mutation causing autosomal recessive ATS, and explored the underlying mechanism.    Methods: We sequenced the coding region of KCJN2. We assessed protein subcellular localization by transfecting cells with Kir2.1-enhanced green fluorescent protein fusions and observing them by confocal microscopy. We measured K+ currents using patch clamping.      Results: We identified the novel Kir2.1 missense mutation L94P. L94P-EGFP was barely detected at the plasma membrane, in contrast to WT-EGFP and L94PEGFP+WT. The excitability of L94P-expressing cells was decreased compared with that of WT-expressing cells and L94P+WT-expressing cells (p < 0.001).      Conclusions: Most L94P mutant Kir2.1 fails to reach the plasma membrane, but heterotetrameric channels comprising L94P+WT can traffic normally to the plasma membrane and generate currents. The L94P mutation is transmitted as an autosomal recessive trait.","subitem_description_language":"en"}]},"item_1617186660861":{"attribute_name":"Date","attribute_value_mlt":[{"subitem_date_issued_datetime":"2014-11-21","subitem_date_issued_type":"Created"}]},"item_1617186702042":{"attribute_name":"Language","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_1617187087799":{"attribute_name":"Dissertation Number","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第6277号"}]},"item_1617187112279":{"attribute_name":"Degree Name","attribute_value_mlt":[{"subitem_degreename":"博士(医学)","subitem_degreename_language":"ja"},{"subitem_degreename":"Philosophy in Medical Science","subitem_degreename_language":"en"}]},"item_1617187136212":{"attribute_name":"Date Granted","attribute_value_mlt":[{"subitem_dategranted":"2014-01-23"}]},"item_1617258105262":{"attribute_name":"Resource Type","attribute_value_mlt":[{"resourcetype":"doctoral thesis","resourceuri":"http://purl.org/coar/resource_type/c_db06"}]},"item_1617265215918":{"attribute_name":"Version Type","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_be7fb7dd8ff6fe43","subitem_version_type":"NA"}]},"item_1617353299429":{"attribute_name":"Relation","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"Ikuko Takeda, Tetsuya Takahashi, Hiroki Ueno, Hiroyuki Morino, Kazuhide Ochi, Takeshi Nakamura, Naohisa Hosomi, Hideshi Kawakami, Kouichi Hashimoto and Masayasu Matsumoto; Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1; Neurology and Clinical Neuroscience, Volume 1, Issue 4, pages 131-137, July 2013 (doi: 10.1111/ncn3.38) "}],"subitem_relation_type":"references"},{"subitem_relation_type":"references","subitem_relation_type_id":{"subitem_relation_type_id_text":"http://dx.doi.org/10.1111/ncn3.38","subitem_relation_type_select":"DOI"}}]},"item_1617605131499":{"attribute_name":"File","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2014-11-21"}],"displaytype":"simple","filename":"k6277_3.pdf","filesize":[{"value":"1.1 MB"}],"mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://hiroshima.repo.nii.ac.jp/record/2005063/files/k6277_3.pdf"},"version_id":"e6096751-f4a2-4726-9776-3a63b34352be"},{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2014-11-21"}],"displaytype":"simple","filename":"k6277_1.pdf","filesize":[{"value":"254.4 KB"}],"mimetype":"application/pdf","url":{"objectType":"abstract","url":"https://hiroshima.repo.nii.ac.jp/record/2005063/files/k6277_1.pdf"},"version_id":"2ecc6fcc-1ac9-4430-8fee-6927addddf4c"},{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2014-11-21"}],"displaytype":"simple","filename":"k6277_2.pdf","filesize":[{"value":"181.5 KB"}],"mimetype":"application/pdf","url":{"objectType":"abstract","url":"https://hiroshima.repo.nii.ac.jp/record/2005063/files/k6277_2.pdf"},"version_id":"f2710282-995f-43df-bc97-0b7f89f75208"}]},"item_1617944105607":{"attribute_name":"Degree Grantor","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"広島大学"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"15401","subitem_degreegrantor_identifier_scheme":"kakenhi"}]},{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"en","subitem_degreegrantor_name":"Hiroshima University"}]}]},"item_1732771732025":{"attribute_name":"旧ID","attribute_value":"36281"},"item_title":"Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1","item_type_id":"40003","owner":"41","path":["1730444915582"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2014-11-21"},"publish_date":"2014-11-21","publish_status":"0","recid":"2005063","relation_version_is_last":true,"title":["Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1"],"weko_creator_id":"41","weko_shared_id":-1},"updated":"2025-02-20T07:26:37.796503+00:00"}