{"created":"2021-03-01T06:07:38.314398+00:00","id":3805,"links":{},"metadata":{"_buckets":{"deposit":"01677397-1b83-4911-a05b-f929f8e88214"},"_deposit":{"id":"3805","owners":[],"pid":{"revision_id":0,"type":"depid","value":"3805"},"status":"published"},"_oai":{"id":"oai:soar-ir.repo.nii.ac.jp:00003805","sets":["461:462"]},"author_link":["7148","7149","7150","7151","7152","7153"],"item_1628147817048":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_6_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2009-12","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"12","bibliographicPageEnd":"748","bibliographicPageStart":"746","bibliographicVolumeNumber":"54","bibliographic_titles":[{"bibliographic_title":"JOURNAL OF HUMAN GENETICS"}]}]},"item_6_description_20":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"We report a 67-year-old Japanese woman with ataxia with oculomotor apraxia type 2 (AOA2). She was born to consanguineous parents and showed a teenage onset, a slowly progressive cerebellar ataxia and sensory-motor neuropathy and an elevated level of serum alpha-fetoprotein (AFP). All of these clinical features were consistent with typical AOA2. She lacked oculomotor apraxia, as frequently observed in previously reported AOA2 patients. She was homozygous for a novel nonsense mutation, Glu385Ter (E385X), in the senataxin gene (SETX). To our knowledge, this is the fifth Japanese family with genetically confirmed AOA2. The mutations in SETX in Japanese AOA2 families are heterogeneous, except for M274I, which has been found in two unrelated families. More extensive screening by serum AFP followed by molecular genetic analysis of SETX in patients with Friedreich's ataxia-like phenotype may show that AOA2 is more common in Japan than previously thought. Journal of Human Genetics (2009) 54, 746-748; doi: 10.1038/jhg.2009.104; published online 6 November 2009","subitem_description_type":"Abstract"}]},"item_6_description_30":{"attribute_name":"資源タイプ（コンテンツの種類）","attribute_value_mlt":[{"subitem_description":"Article","subitem_description_type":"Other"}]},"item_6_description_5":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"JOURNAL OF HUMAN GENETICS. 54(12):746-748 (2009)","subitem_description_type":"Other"}]},"item_6_link_3":{"attribute_name":"信州大学研究者総覧へのリンク","attribute_value_mlt":[{"subitem_link_text":"Yoshida, Kunihiro","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html"}]},"item_6_link_67":{"attribute_name":"WoS","attribute_value_mlt":[{"subitem_link_url":"http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000273407800010"}]},"item_6_publisher_4":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"NATURE PUBLISHING GROUP"}]},"item_6_relation_47":{"attribute_name":"PubMed","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"19893583"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://pubmed.ncbi.nlm.nih.gov/19893583","subitem_relation_type_select":"PMID"}}]},"item_6_relation_48":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.1038/jhg.2009.104"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1038/jhg.2009.104","subitem_relation_type_select":"DOI"}}]},"item_6_rights_62":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright© 2009 The Japan Society of Human Genetics"}]},"item_6_source_id_35":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1434-5161","subitem_source_identifier_type":"PISSN"}]},"item_6_source_id_40":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA11206160","subitem_source_identifier_type":"NCID"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Nakamura,  Katsuya","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yoshida,  Kunihiro","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Makishita,  Hideo","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kitamura,  Eiko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Hashimoto,  Shiori","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ikeda,  Shu-ichi","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2015-09-24"}],"displaytype":"detail","filename":"A_novel_nonsense_mutation_Japanese_family.pdf","filesize":[{"value":"197.0 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"A_novel_nonsense_mutation_Japanese_family.pdf","url":"https://soar-ir.repo.nii.ac.jp/record/3805/files/A_novel_nonsense_mutation_Japanese_family.pdf"},"version_id":"f942adf8-e24a-4f43-852f-737fae13e0c9"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"ataxia with oculomotor apraxia type 2 (AOA2)","subitem_subject_scheme":"Other"},{"subitem_subject":"sensory-motor neuropathy","subitem_subject_scheme":"Other"},{"subitem_subject":"senataxin","subitem_subject_scheme":"Other"},{"subitem_subject":"fiber type grouping","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["462"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2013-04-01"},"publish_date":"2013-04-01","publish_status":"0","recid":"3805","relation_version_is_last":true,"title":["A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2022-12-14T04:12:01.779360+00:00"}