{"created":"2023-05-15T09:03:16.012910+00:00","id":4160,"links":{},"metadata":{"_buckets":{"deposit":"7732b75d-b542-419f-a26a-e19a39f4d389"},"_deposit":{"created_by":3,"id":"4160","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"4160"},"status":"published"},"_oai":{"id":"oai:hirosaki.repo.nii.ac.jp:00004160","sets":["557:666:671"]},"author_link":["14463","14451","14445"],"item_7_alternative_title_22":{"attribute_name":"タイトル（ヨミ）","attribute_value_mlt":[{"subitem_alternative_title":"ヒ ダウンショウ ショウニ キュウセイ キョカク ガキュウセイ ハッケツビョウ ニ ミトメラレタ シンキ GATA1 インフレーム ヘンイ"}]},"item_7_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2014-09-30","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2-4","bibliographicPageEnd":"237","bibliographicPageStart":"227","bibliographicVolumeNumber":"65","bibliographic_titles":[{"bibliographic_title":"弘前医学"}]}]},"item_7_date_granted_66":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2014-09-30"}]},"item_7_degree_grantor_64":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_name":"弘前大学"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"11101","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_7_degree_name_63":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士（医学）"}]},"item_7_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"ダウン症児は巨核芽球性白血病(DS-AMKL)のリスクが高い.DS-AMKL ではほぼ全例でGATA1 遺伝子変異があり,N 末端領域を欠くGATA1s だけが発現する.非ダウン症例(non-DS-AMKL)にはこの変異は稀である.最近我々は,19 例中1 例のnon-DS-AMKL にインフレーム欠失を見出した.患児は出生時より白血球増多を認め,生後1 ヶ月時にAMKL と診断された.芽球の核型は46,XY であった.変異確認の際,第3エクソンのスプライシングを起こす別の欠失を認め,両変異は同アレルに座位していた.この変異体(#135)の転写活性化能は60%に減弱していた.完全長GATA1発現レトロウィルスの導入でDS-AMKL 細胞株KPAM1 の増殖が著しく抑制されたが,GATA1s や#135 では緩やかな抑制だった.これらの結果は#135 変異体がnon-DS-AMKL 発症に関与していることを示している.","subitem_description_type":"Abstract"}]},"item_7_description_6":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"出版社版\nhttp://repository.ul.hirosaki-u.ac.jp/dspace/handle/10129/5431","subitem_description_type":"Other"}]},"item_7_description_7":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"弘前医学. 65(2-4), 2014, 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