{"published":"2021-08-30 20:57:18","width":"100%","height":"190","version":"1.0","author_name":"marfan-info","html":"<iframe src=\"https://hatenablog-parts.com/embed?url=https%3A%2F%2Fmarfan-info.hatenablog.com%2Fentry%2F2021%2F08%2F30%2F205718\" title=\"\u30ed\u30a4\u30b9\u30fb\u30c7\u30a3\u30fc\u30c4\u75c7\u5019\u7fa4\u3068\u751f\u304d\u308b\u3000\uff5e\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u539f\u56e0\u907a\u4f1d\u5b50\uff5e - \u6d77\u5916\u30de\u30eb\u30d5\u30a1\u30f3\u60c5\u5831 | Global Marfan Updates\" class=\"embed-card embed-blogcard\" scrolling=\"no\" frameborder=\"0\" style=\"display: block; width: 100%; height: 190px; max-width: 500px; margin: 10px 0px;\"></iframe>","image_url":null,"categories":["\u30aa\u30f3\u30e9\u30a4\u30f3\u30bb\u30df\u30ca\u30fc","\u30ed\u30a4\u30b9\u30fb\u30c7\u30a3\u30fc\u30c4\u75c7\u5019\u7fa4\uff08LDS\uff09","\u907a\u4f1d\u5b50"],"blog_url":"https://marfan-info.hatenablog.com/","type":"rich","title":"\u30ed\u30a4\u30b9\u30fb\u30c7\u30a3\u30fc\u30c4\u75c7\u5019\u7fa4\u3068\u751f\u304d\u308b\u3000\uff5e\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u539f\u56e0\u907a\u4f1d\u5b50\uff5e","author_url":"https://blog.hatena.ne.jp/marfan-info/","blog_title":"\u6d77\u5916\u30de\u30eb\u30d5\u30a1\u30f3\u60c5\u5831 | Global Marfan Updates","provider_name":"Hatena Blog","provider_url":"https://hatena.blog","url":"https://marfan-info.hatenablog.com/entry/2021/08/30/205718","description":"Living a Life with LDS (September 12, 2020) E3 Summit 19:03-19:54 So overall we do have now at least five established genes. Receptor 1, receptor 2, SMAD3, TGF-beta 2 and 3. \u3053\u308c\u307e\u3067\u306e\u7814\u7a76\u304b\u3089\u3001LDS\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u5c11\u306a\u304f\u3068\u30825\u7a2e\u985e\uff08TGFBR1\u3001TGFBR2\u3001SMAD3\u3001TGFB2\u3001TGFB3\uff09\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 We also observed mutations in another family member \u2026"}