{"id":879,"date":"2023-10-16T00:00:00","date_gmt":"2023-10-15T15:00:00","guid":{"rendered":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/?p=879"},"modified":"2025-06-22T13:32:40","modified_gmt":"2025-06-22T04:32:40","slug":"%e6%8e%b2%e8%bc%89%e6%83%85%e5%a0%b1%ef%bc%88%e8%ab%96%e6%96%87%ef%bc%89","status":"publish","type":"post","link":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/?p=879","title":{"rendered":"\u63b2\u8f09\u60c5\u5831\uff08\u8ad6\u6587\uff09"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">\u672c\u5b66\u306f\u672a\u8a3a\u65ad\u75be\u60a3\u30a4\u30cb\u30b7\u30a2\u30c1\u30d6\uff08IRUD\uff09\u62e0\u70b9\u75c5\u9662\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u4eca\u56de\u3001\u75c7\u4f8b\u5831\u544a\u304c\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002<br>\u30de\u30eb\u30d5\u30a1\u30f3\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3082\u3042\u308b<em>FBN1<\/em>\u306e\u6700\u7d42\u30a4\u30f3\u30c8\u30ed\u30f3\u306e\u5869\u57fa\u7f6e\u63db\u3067\u3001\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u306b\u5f71\u97ff\u304c\u51fa\u308b\uff08\u30a8\u30af\u30bd\u30f3\u304c\u30b9\u30ad\u30c3\u30d7\u3059\u308b\uff09\u3082\u306e\u306e\u3001NMD\u306f\u53d7\u3051\u306a\u3044\u3053\u3068\u3092\u5b9f\u9a13\u3067\u78ba\u8a8d\u3057\u307e\u3057\u305f\u3002FBN1\u306eC\u7aef\u306b\u306f\u30db\u30eb\u30e2\u30f3\u4f5c\u7528\u306e\u3042\u308b\u30da\u30d7\u30c1\u30c9\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u3088\u3046\u306a\u6700\u5f8c\u306e\u307b\u3046\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u3088\u308b\u75be\u60a3\uff08MFLS\uff09\u306f\u5178\u578b\u7684\u306a\u30de\u30eb\u30d5\u30a1\u30f3\u75c7\u5019\u7fa4\u3068\u5c11\u3057\u7570\u306a\u3063\u305f\u81e8\u5e8a\u7279\u5fb4\u3092\u793a\u3057\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u4e16\u754c\u3067\u308210\u4f8b\u7a0b\u5ea6\u306e\u5831\u544a\u3057\u304b\u306a\u3044\u3001\u307e\u308c\u306a\u75c5\u614b\u3067\u3059\u3002<br><br>\u962a\u5927\u306eIRUD\u89e3\u6790\u30bb\u30f3\u30bf\u30fc\u3092\u59cb\u3081\u3001\u5404\u8a3a\u7642\u79d1\u3001CGC\u306e\u7686\u3055\u3093\u306b\u3082\u304a\u4e16\u8a71\u306b\u306a\u308a\u3042\u308a\u304c\u3068\u3046\u3054\u3056\u3044\u307e\u3057\u305f\u3002\u672c\u65e5\u7121\u4e8bOpen Access\u3068\u306a\u308a\u307e\u3057\u305f\u3002<br><br>A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.<br>Moriwaki T, Masuno M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Takao K, Tawa K, Yamanouchi Y, Miki A, Otomo T.<br><strong><em>Human Genome Variation<\/em><\/strong> volume 10, Article number: 27 (2023) <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37845262\/\" target=\"_blank\" rel=\"noreferrer noopener\"><span class=\"has-inline-color has-vivid-purple-color\">PMID: 37845262<\/span><\/a><br><a rel=\"noreferrer noopener\" href=\"https:\/\/www.nature.com\/articles\/s41439-023-00255-8\" target=\"_blank\"><span class=\"has-inline-color has-vivid-purple-color\">https:\/\/www.nature.com\/articles\/s41439-023-00255-8<\/span><\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p 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