{"_buckets": {"deposit": "4f63551d-ade6-4190-88e8-7df69dd1fb32"}, "_deposit": {"id": "12828", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "12828"}, "status": "published"}, "_oai": {"id": "oai:niigata-u.repo.nii.ac.jp:00012828"}, "item_7_alternative_title_1": {"attribute_name": "\u305d\u306e\u4ed6\u306e\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_alternative_title": "Analysis of the Causative Gene for Distal Myopathy with Rimmed Vacuoles and the Study for Its Pathomechanism"}]}, "item_7_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2004-11", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "11", "bibliographicPageEnd": "631", "bibliographicPageStart": "622", "bibliographicVolumeNumber": "118", "bibliographic_titles": [{"bibliographic_title": "\u65b0\u6f5f\u533b\u5b66\u4f1a\u96d1\u8a8c"}, {"bibliographic_title": "\u65b0\u6f5f\u533b\u5b66\u4f1a\u96d1\u8a8c", "bibliographic_titleLang": "en"}]}]}, "item_7_description_4": {"attribute_name": "\u6284\u9332", "attribute_value_mlt": [{"subitem_description": "Rimmed vacuole\u578b\u9060\u4f4d\u578b\u30df\u30aa\u30d1\u30c1\u30fc(DMRV)\u306f\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\u5f62\u5f0f\u306e\u7b4b\u75be\u60a3\u3067\u3042\u308a,\u82e5\u5e74\u767a\u75c7\u3067\u4e0b\u80a2\u9060\u4f4d\u7b4b\u304b\u3089\u59cb\u307e\u308a\u5168\u8eab\u6027\u306b\u7b4b\u529b\u4f4e\u4e0b\u304c\u53ca\u3076\u3082\u306e\u306e,\u5927\u817f\u56db\u982d\u7b4b\u306e\u7b4b\u529b\u304c\u672b\u671f\u307e\u3067\u4fdd\u305f\u308c\u308b\u3068\u3044\u3046\u7279\u5fb4\u7684\u306a\u7b4b\u969c\u5bb3\u5206\u5e03\u3092\u5448\u3059.\u4e2d\u6771\u7cfb\u30e6\u30c0\u30e4\u4eba\u306b\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u308bhereditary inclusion body myopathy(HIBM)\u306eallelic disease\u3067\u3042\u308a,\u7b4b\u75c5\u7406\u7d44\u7e54\u5b66\u7684\u306b\u306fGomori trichrome\u67d3\u8272\u306b\u304a\u3044\u3066\u7e01\u53d6\u308a\u7a7a\u7832(rimmed vacuoles)\u3092\u4f34\u3046\u3053\u3068\u3092\u7279\u5fb4\u3068\u3059\u308b.\u8fd1\u5e74,UDP-N acetylglucosamine 2-epimerase/N-acetvlmannosamine kinase(GNE)\u907a\u4f1d\u5b50\u304cHIBM\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u7279\u5b9a\u3055\u308c\u305f.GNE\u306f\u7b2c9\u67d3\u8272\u4f53\u4e0a\u306b\u4f4d\u7f6e\u3057,\u3053\u308c\u307e\u3067\u306b\u5f53\u6559\u5ba4\u306f\u9023\u9396\u89e3\u6790\u306b\u3088\u308aDMRV\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u30829p1-q1\u306b\u9023\u9396\u3059\u308b\u3053\u3068\u3092\u660e\u3089\u304b\u306b\u3057\u3066\u304d\u305f.\u79c1\u306f\u9023\u9396\u89e3\u6790\u306b\u4f7f\u7528\u3057\u305f\u5bb6\u7cfb\u3092\u7528\u3044\u30cf\u30d7\u30ed\u30bf\u30a4\u30d7\u89e3\u6790\u3068\u907a\u4f1d\u5b50\u5909\u7570\u89e3\u6790\u3092\u884c\u3044,\u65e5\u672c\u4ebaDMRV\u75c7\u4f8b\u306b\u304a\u3044\u3066\u306f\u5275\u59cb\u8005\u52b9\u679c\u3092\u7279\u3064GNE\u306e\u907a\u4f1d\u5b50\u5909\u7570\u304c\u767a\u75c7\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f.\u3055\u3089\u306b\u81e8\u5e8a\u7684,\u7b4b\u75c5\u7406\u7d44\u7e54\u5b66\u7684\u306bDMRV\u3068\u8a3a\u65ad\u3057\u305f\u591a\u6570\u306e\u65e5\u672c\u4eba\u75c7\u4f8b\u3092\u96c6\u7a4d\u3057,\u81e8\u5e8a\u578b\u3068\u907a\u4f1d\u5b50\u578b\u306e\u5bfe\u5fdc\u306b\u3064\u3044\u3066\u691c\u8a0e\u3057\u305f.\u305d\u306e\u7d50\u679c,\u305d\u306e\u591a\u304f\u304c\u5275\u59cb\u8005\u52b9\u679c\u3092\u7279\u3064V572L\u306e\u30db\u30e2\u63a5\u5408\u3092\u5448\u3059\u308b\u3053\u3068,\u3053\u308c\u3089\u306e\u75c7\u4f8b\u3067\u306f\u6bd4\u8f03\u7684\u5747\u4e00\u306a\u81e8\u5e8a\u7d4c\u904e\u3092\u5448\u3059\u308b\u50be\u5411\u304c\u3042\u308b\u3053\u3068\u3092\u660e\u3089\u304b\u306b\u3057\u305f.GNE\u306e\u7b4b\u306b\u304a\u3051\u308b\u751f\u7406\u5b66\u7684\u6a5f\u80fd\u306f\u3044\u307e\u3060\u4e0d\u660e\u3067\u3042\u308b\u305f\u3081,\u305d\u306e\u7b4b\u306b\u304a\u3051\u308b\u767a\u73fe\u304a\u3088\u3073\u6a5f\u80fd\u3092\u691c\u8a0e\u3057,\u7b4b\u7d30\u80de\u3067\u306e\u767a\u73fe\u304c\u591a\u3044\u3053\u3068,\u57f9\u990a\u7d30\u80de\u3078\u306e\u5f37\u5236\u767a\u73fe\u306b\u3088\u308a\u5909\u7570\u30bf\u30f3\u30d1\u30af\u304c\u51dd\u96c6\u3059\u308b\u50be\u5411\u3092\u5448\u3059\u308b\u3053\u3068,\u672c\u75c7\u60a3\u8005\u7b4b\u3067rimmed vacuole\u5f62\u6210\u7dda\u7dad\u3067\u306f\u767a\u73fe\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u660e\u3089\u304b\u3057\u305f.", "subitem_description_type": "Abstract"}]}, "item_7_publisher_7": {"attribute_name": "\u51fa\u7248\u8005", "attribute_value_mlt": [{"subitem_publisher": "\u65b0\u6f5f\u533b\u5b66\u4f1a"}]}, "item_7_select_19": {"attribute_name": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "attribute_value_mlt": [{"subitem_select_item": "publisher"}]}, "item_7_source_id_11": {"attribute_name": "\u66f8\u8a8c\u30ec\u30b3\u30fc\u30c9ID", "attribute_value_mlt": [{"subitem_source_identifier": "AN00182415", "subitem_source_identifier_type": "NCID"}]}, "item_7_source_id_9": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "00290440", "subitem_source_identifier_type": "ISSN"}]}, "item_creator": {"attribute_name": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "\u65b0\u4e95, \u4e9c\u5e0c"}], "nameIdentifiers": [{"nameIdentifier": "85133", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "\u30d5\u30a1\u30a4\u30eb\u60c5\u5831", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2019-08-07"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "KJ00004300784.pdf", "filesize": [{"value": "1.4 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 1400000.0, "url": {"label": "KJ00004300784.pdf", "url": "https://niigata-u.repo.nii.ac.jp/record/12828/files/KJ00004300784.pdf"}, "version_id": "6d38dee4-e083-436f-ab33-6c00f38b267b"}]}, "item_language": {"attribute_name": "\u8a00\u8a9e", "attribute_value_mlt": [{"subitem_language": "jpn"}]}, "item_resource_type": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"resourcetype": "departmental bulletin paper", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Rimmed vacuole\u578b\u9060\u4f4d\u578b\u30df\u30aa\u30d1\u30c1\u30fc\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u540c\u5b9a\u3068\u75c5\u614b\u6a5f\u5e8f\u89e3\u660e\u306b\u95a2\u3059\u308b\u7814\u7a76", "item_titles": {"attribute_name": "\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_title": "Rimmed vacuole\u578b\u9060\u4f4d\u578b\u30df\u30aa\u30d1\u30c1\u30fc\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u540c\u5b9a\u3068\u75c5\u614b\u6a5f\u5e8f\u89e3\u660e\u306b\u95a2\u3059\u308b\u7814\u7a76"}, {"subitem_title": "Rimmed vacuole\u578b\u9060\u4f4d\u578b\u30df\u30aa\u30d1\u30c1\u30fc\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u540c\u5b9a\u3068\u75c5\u614b\u6a5f\u5e8f\u89e3\u660e\u306b\u95a2\u3059\u308b\u7814\u7a76", "subitem_title_language": "en"}]}, "item_type_id": "7", "owner": "1", "path": ["453/456", "471/537/538/1033"], "permalink_uri": "http://hdl.handle.net/10191/2631", "pubdate": {"attribute_name": "\u516c\u958b\u65e5", "attribute_value": "2007-05-10"}, "publish_date": "2007-05-10", "publish_status": "0", "recid": "12828", "relation": {}, "relation_version_is_last": true, "title": ["Rimmed vacuole\u578b\u9060\u4f4d\u578b\u30df\u30aa\u30d1\u30c1\u30fc\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u540c\u5b9a\u3068\u75c5\u614b\u6a5f\u5e8f\u89e3\u660e\u306b\u95a2\u3059\u308b\u7814\u7a76"], "weko_shared_id": null}