{"_buckets": {"deposit": "595121e4-cc19-478c-b133-d9cfd611c813"}, "_deposit": {"id": "9936", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "9936"}, "status": "published"}, "_oai": {"id": "oai:nagoya.repo.nii.ac.jp:00009936", "sets": ["961"]}, "author_link": ["30097"], "item_12_alternative_title_19": {"attribute_name": "その他のタイトル", "attribute_value_mlt": [{"subitem_alternative_title": "偏ったX 染色体不活性化に伴う二卵性双生児の女性血友病B", "subitem_alternative_title_language": "ja"}]}, "item_12_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2009-03-25", "bibliographicIssueDateType": "Issued"}}]}, "item_12_date_granted_64": {"attribute_name": "学位授与年月日", "attribute_value_mlt": [{"subitem_dategranted": "2009-03-25"}]}, "item_12_degree_grantor_62": {"attribute_name": "学位授与機関", "attribute_value_mlt": [{"subitem_degreegrantor": [{"subitem_degreegrantor_language": "ja", "subitem_degreegrantor_name": "名古屋大学"}, {"subitem_degreegrantor_language": "en", "subitem_degreegrantor_name": "NAGOYA University"}], "subitem_degreegrantor_identifier": [{"subitem_degreegrantor_identifier_name": "13901", "subitem_degreegrantor_identifier_scheme": "kakenhi"}]}]}, "item_12_degree_name_61": {"attribute_name": "学位名", "attribute_value_mlt": [{"subitem_degreename": "博士(医療技術学)", "subitem_degreename_language": "ja"}]}, "item_12_description_4": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "Female carriers of haemophilia B are usually asymptomatic; however, the disease resulting from different pathophysiological mechanisms has rarely been documented in females. In this study, we investigated the mechanisms responsible for haemophilia B in fraternal female twins. We sequenced the factor IX gene (F9) of the propositus, her father, a severe haemophilia B patient, and the other family members. X chromosome inactivation was assessed by the methylation-sensitive HpaII-PCR assay using X-linked polymorphisms in human phosphoglycerate kinase 1 gene (PGK1) and glutamate receptor ionotropic AMPA 3 gene (GRIA3). The twins were found to be heterozygotes with a nonsense mutation (p.Arg384X) inherited from their father. The propositus, more severely affected twin, exhibited a significantly higher percentage of inactivation in the maternally derived X chromosome carrying a normal F9. The other twin also showed a skewed maternal X inactivation, resulting in a patient with mild haemophilia B. Thus, the degree of skewing of maternal X inactivation is closely correlated with the coagulation parameters and the clinical phenotypes of the twins. Furthermore, we identified a crossing-over in the Xq25.26 region of the maternal X chromosome of the more severely affected twin. This crossing-over was absent in the other twin, consistent with their fraternal state. Differently skewed X inactivation in the fraternal female twins might cause moderately severe and mild haemophilia B phenotypes, respectively.", "subitem_description_language": "en", "subitem_description_type": "Abstract"}]}, "item_12_description_5": {"attribute_name": "内容記述", "attribute_value_mlt": [{"subitem_description": "名古屋大学博士学位論文 学位の種類:博士（医療技術学）（課程） 学位授与年月日:平成21年3月25日", "subitem_description_language": "ja", "subitem_description_type": "Other"}]}, "item_12_dissertation_number_65": {"attribute_name": "学位授与番号", "attribute_value_mlt": [{"subitem_dissertationnumber": "甲第8248号"}]}, "item_12_identifier_60": {"attribute_name": "URI", "attribute_value_mlt": [{"subitem_identifier_type": "HDL", "subitem_identifier_uri": "http://hdl.handle.net/2237/11746"}]}, "item_12_select_15": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_select_item": "publisher"}]}, "item_12_text_14": {"attribute_name": "フォーマット", "attribute_value_mlt": [{"subitem_text_value": "application/pdf"}]}, "item_12_text_63": {"attribute_name": "学位授与年度", "attribute_value_mlt": [{"subitem_text_value": "2008"}]}, "item_access_right": {"attribute_name": "アクセス権", "attribute_value_mlt": [{"subitem_access_right": "open access", "subitem_access_right_uri": "http://purl.org/coar/access_right/c_abf2"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "奥村, 薫", "creatorNameLang": "ja"}], "nameIdentifiers": [{"nameIdentifier": "30097", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2018-02-20"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "k8248_thesis.pdf", "filesize": [{"value": "321.7 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 321700.0, "url": {"label": "k8248_thesis.pdf", "objectType": "fulltext", "url": "https://nagoya.repo.nii.ac.jp/record/9936/files/k8248_thesis.pdf"}, "version_id": "a83f37d2-1e8e-4dee-af73-0145979bdf84"}]}, "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": "doctoral thesis", "resourceuri": "http://purl.org/coar/resource_type/c_db06"}]}, "item_title": "Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B", "subitem_title_language": "en"}]}, "item_type_id": "12", "owner": "1", "path": ["961"], "permalink_uri": "http://hdl.handle.net/2237/11746", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2009-05-12"}, "publish_date": "2009-05-12", "publish_status": "0", "recid": "9936", "relation": {}, "relation_version_is_last": true, "title": ["Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B"], "weko_shared_id": -1}