{"created":"2023-06-20T15:49:06.619503+00:00","id":3664,"links":{},"metadata":{"_buckets":{"deposit":"a2ac9247-97e0-43a3-bdb7-a02ec128d935"},"_deposit":{"created_by":4,"id":"3664","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"3664"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:00003664","sets":["1:75:76"]},"author_link":["10818","10819"],"item_3_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2021-03-15","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"19","bibliographicPageStart":"3","bibliographicVolumeNumber":"1","bibliographic_titles":[{"bibliographic_title":"浜松医科大学小児科学雑誌","bibliographic_titleLang":"ja"},{"bibliographic_title":"Hamamatsu Journal of Pediatrics","bibliographic_titleLang":"en"}]}]},"item_3_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"ヒト第14染色体長腕の14q32。2領域には、父性発現遺伝子DLK1やRTL1、ならびに母性発現遺伝子MEG3やRTL1asが存在する。われわれは、このインプリンティング領域の異常によってもたらされる疾患の研究に従事し、以下のことを明らかとした。(1) このインプリンティング領域には、配偶子形成時に樹立されるIG-DMRと受精後に樹立されるMEG3-DMRが存在する。(2) 個体では、2つのDMRは共に父由来のときに高メチル化状態、母由来のときに低メチル化状態で存在するが、胎盤では、IG-DMRのみ個体と同様のDMRとして存在する。(3) IG-DMRとMEG3-DMRは、各々胎盤と個体におけるICとして機能する。(4) IG-DMRは個体におけるMEG3-DMRのメチル化パターンを制御する。(5) 第14染色体父性片親性ダイソミーと同じ症状が、母由来DMRを含む微細欠失や当該DMRのエピ変異（高メチル化）で生じる。(6) 母性発現遺伝子RTL1asにコードされるmicroRNAは、父性発現遺伝子RTL1の発現抑制機能を有する。(7) 第14染色体父性ダイソミーおよび類縁疾患の表現型は、主にRTL1の過剰発現による。(8) 第14染色体父性ダイソミーおよび類縁疾患の診断特異的症状として豊かな頬と突出した人中を呈する顔貌、胸部レントゲン上のcoat hanger angleの増加が、特徴的症状として腹壁異常、羊水過多、胎盤過形成が、非特異的症状として出生時過体重、精神運動発達遅滞、摂食嚥下困難が、その他の症状として肝芽腫、早期死亡が挙げられる。このような成果により第14染色体父性ダイソミーおよびその類縁疾患に対し、「鏡-緒方症候群」 (Kagami-Ogata syndrome) という疾患名が、欧州インプリンティング疾患ネットワークから与えられ、これは、世界最大の疾患データベースOnline Mendelian Inheritance in Man (OMIM) に#608149として登録された。","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_3_publisher_6":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"浜松医科大学小児科学雑誌編集部","subitem_publisher_language":"ja"}]},"item_3_relation_27":{"attribute_name":"医中誌論文ID","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"2021237778","subitem_relation_type_select":"ICHUSHI"}}]},"item_3_source_id_20":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"2436-2433","subitem_source_identifier_type":"EISSN"}]},"item_3_version_type_32":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open 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diagnosis","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"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":"新規ヒトインプリンティング疾患「Kagami-Ogata症候群」の樹立","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"新規ヒトインプリンティング疾患「Kagami-Ogata症候群」の樹立","subitem_title_language":"ja"},{"subitem_title":"Kagami-Ogata syndrome: a novel imprinting disorder","subitem_title_language":"en"}]},"item_type_id":"3","owner":"4","path":["76"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2021-03-15"},"publish_date":"2021-03-15","publish_status":"0","recid":"3664","relation_version_is_last":true,"title":["新規ヒトインプリンティング疾患「Kagami-Ogata症候群」の樹立"],"weko_creator_id":"4","weko_shared_id":-1},"updated":"2024-03-22T03:01:17.981205+00:00"}