{"created":"2023-05-15T16:43:54.036679+00:00","id":19418,"links":{},"metadata":{"_buckets":{"deposit":"1a06612c-ce7f-4580-9d06-b2e7bfc0b817"},"_deposit":{"created_by":2,"id":"19418","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"19418"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00019418","sets":["10:11"]},"author_link":["80919","80921","80916","80922","80917","80923","80920","80918"],"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2008-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"41","bibliographicPageStart":"34","bibliographicVolumeNumber":"53","bibliographic_titles":[{"bibliographic_title":"Journal of Human Genetics"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Hereditary congenital ptosis (PTOS) is defined as drooping of the upper eyelid without any other accompanying symptoms and distinguished from syndromic blepharoptosis.Two previous linkage analyses assigned a PTOS locus (PTOS1) to 1p32-p34.1 and another (PTOS2) to Xq24-q27.1. In addition, in a sporadic case with a balanced chromosomal translocation t(1;8)(p34.3;q21.12), the ZFHX4 (zinc finger homeodomain 4) gene was found to be disrupted at the 8q21.12 breakpoint, but there was no gene at the 1p34.3 breakpoint, suggesting the existence of the third PTOS locus (PTOS1) at 8q21.12. We carried out a genome-wide linkage analysis in a Japanese PTOS family and calculated two-point and multipoint LOD scores with reduced penetrance. Haplotype analysis gave three candidate disease-responsible regions, i.e., 8q21.11-q22.1, 12q24.32-q24.33 and 14q21.1-q23.2. Although the family size is too small to define one of them, 8q21.11-q22.1 is a likely candidate region, because it contains the previously reported translocation breakpoint above. We thus performed mutation, Southern-blot and methylation analyses of ZFHX4, but could not find any disease specific change in the family. Nevertheless, our data may support the localization of PTOS1.","subitem_description_type":"Abstract"}]},"item_2_description_5":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"長崎大学学位論文 学位記番号:博（医歯薬）甲第153号 博士（医学）学位授与年月日:平成20年3月19日","subitem_description_type":"Other"}]},"item_2_description_63":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"Journal of Human Genetics, 53(1), pp.34-41; 2008","subitem_description_type":"Other"}]},"item_2_publisher_33":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Springer Japan"}]},"item_2_relation_11":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"17987257","subitem_relation_type_select":"PMID"}}]},"item_2_relation_12":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1007/s10038-007-0214-6","subitem_relation_type_select":"DOI"}}]},"item_2_source_id_10":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA11206160","subitem_source_identifier_type":"NCID"}]},"item_2_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"14345161","subitem_source_identifier_type":"ISSN"}]},"item_2_source_id_8":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"1435-232X","subitem_source_identifier_type":"ISSN"}]},"item_2_version_type_16":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Nakashima, Mitsuko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nakano, Motoi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Hirano, Akiyoshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kishino, Tatsuya"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kondoh, Shinji"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Miwa, Nobutomo"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Niikawa, Norio"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yoshiura, Koh-ichiro"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-23"}],"displaytype":"detail","filename":"JHG53_34.pdf","filesize":[{"value":"2.7 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"JHG53_34.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/19418/files/JHG53_34.pdf"},"version_id":"cf0ade66-cb54-4293-9943-4bd2d93e4860"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Hereditary congenital ptosis","subitem_subject_scheme":"Other"},{"subitem_subject":"ZFHX4","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 Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family"}]},"item_type_id":"2","owner":"2","path":["11"],"pubdate":{"attribute_name":"公開日","attribute_value":"2008-07-31"},"publish_date":"2008-07-31","publish_status":"0","recid":"19418","relation_version_is_last":true,"title":["A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family"],"weko_creator_id":"2","weko_shared_id":2},"updated":"2023-05-15T18:50:01.325937+00:00"}