{"created":"2021-03-01T06:11:55.810438+00:00","id":8074,"links":{},"metadata":{"_buckets":{"deposit":"33e1936e-332b-4352-9f09-d8193ed2b0cf"},"_deposit":{"id":"8074","owners":[],"pid":{"revision_id":0,"type":"depid","value":"8074"},"status":"published"},"_oai":{"id":"oai:soar-ir.repo.nii.ac.jp:00008074","sets":["882:883"]},"author_link":["22448","22449","22450","22451","22452"],"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":"2012-02-15","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1-2","bibliographicPageEnd":"192","bibliographicPageStart":"189","bibliographicVolumeNumber":"313","bibliographic_titles":[{"bibliographic_title":"JOURNAL OF THE NEUROLOGICAL SCIENCES"}]}]},"item_6_description_20":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"A Japanese family with a novel nonsense mutation in the TITF-1 gene (p.Y98X) is described. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection, all of which are characteristic features of Brain-Thyroid-Lung syndrome. On the other hand, her brother and mother showed a mild benign hereditary chorea (BHC) phenotype with congenital hypothyroidism. Intrafamilial phenotypic variation is common in BHC/Brain-Thyroid-Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function. Although choreic movement in BHC/Brain-Thyroid-Lung syndrome is recognized as non-progressive, the proband showed re-exacerbation of choreic movement at puberty. The dopamine agonist, ropinirole hydrochloride, reduced her choreic movements, suggesting that levodopa and/or dopamine agonists may compensate for underdeveloped dopaminergic pathways in this disorder.","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 THE NEUROLOGICAL SCIENCES. 313(1-2):189-192 (2012)","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":"Sekijima, Yoshiki","subitem_link_url":"https://soar-rd.shinshu-u.ac.jp/profile/ja.WhLNuakh.html"},{"subitem_link_text":"Yoshida, Kunihiro","subitem_link_url":"https://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=000299978800035"}]},"item_6_publisher_4":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"ELSEVIER SCIENCE BV"}]},"item_6_relation_47":{"attribute_name":"PubMed","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"21982616"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://pubmed.ncbi.nlm.nih.gov/21982616","subitem_relation_type_select":"PMID"}}]},"item_6_relation_48":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.1016/j.jns.2011.09.013"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1016/j.jns.2011.09.013","subitem_relation_type_select":"DOI"}}]},"item_6_rights_62":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright© 2011 Elsevier B.V."}]},"item_6_source_id_35":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0022-510X","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":"AA00703265","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":"Sekijima,  Yoshiki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nagamatsu,  Kiyoshiro","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yoshida,  Kunihiro","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":"2015-09-25"}],"displaytype":"detail","filename":"A_novel_nonsense_mutation_TITF-1_gene_Japanese_family.pdf","filesize":[{"value":"222.7 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"A_novel_nonsense_mutation_TITF-1_gene_Japanese_family.pdf","url":"https://soar-ir.repo.nii.ac.jp/record/8074/files/A_novel_nonsense_mutation_TITF-1_gene_Japanese_family.pdf"},"version_id":"024f5fa2-b97a-4c4d-b0da-24ae036fc627"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Benign hereditary chorea (BHC)","subitem_subject_scheme":"Other"},{"subitem_subject":"Brain-Thyroid-Lung syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"Thyroid transcription factor-1 (TITF-1)","subitem_subject_scheme":"Other"},{"subitem_subject":"Chorea","subitem_subject_scheme":"Other"},{"subitem_subject":"Hypothyroidism","subitem_subject_scheme":"Other"},{"subitem_subject":"Nkx2.1","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 the TITF-1 gene in a Japanese family with benign hereditary chorea","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["883"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2013-04-01"},"publish_date":"2013-04-01","publish_status":"0","recid":"8074","relation_version_is_last":true,"title":["A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2022-12-14T04:00:49.285867+00:00"}