{"id":806,"date":"2022-07-25T12:00:00","date_gmt":"2022-07-25T03:00:00","guid":{"rendered":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/?p=806"},"modified":"2025-06-22T13:33:21","modified_gmt":"2025-06-22T04:33:21","slug":"%e6%8e%b2%e8%bc%89%e6%83%85%e5%a0%b1%ef%bc%88%ef%bc%92%e4%bb%b6%ef%bc%89-2","status":"publish","type":"post","link":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/?p=806","title":{"rendered":"\u63b2\u8f09\u60c5\u5831\uff08\u8ad6\u6587\uff12\u4ef6\uff09"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">\u8ad6\u6587\u304c\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002<br><br>Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.<br>Sofronova V, Iwata R, Moriya T, Loskutova K, Gurinova E, Chernova M, Timofeeva A, Shvedova A, Vasilev F, Novgorodova S, Terawaki S, Moriwaki T, Sukhomyasova A, Maksimova N, *Otomo T<br>&nbsp;<strong><em>Int J Mol Sci.<\/em><\/strong>&nbsp;2022;23(10):5851. <a rel=\"noreferrer noopener\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35628659\/\" target=\"_blank\"><span class=\"has-inline-color has-vivid-purple-color\"><span style=\"text-decoration: underline;\">PMID:&nbsp;35628659<\/span><\/span><\/a><br>\u79c1\u305f\u3061\u304c\u5831\u544a\u3057\u305f\u65b0\u898f\u5e0c\u5c11\u75be\u60a3\u306e\u81e8\u5e8a\u50cf\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u81e8\u5e8a\u7814\u7a76\u3067\u3059\u3002\u5178\u578b\u7684\u306a\u30e0\u30b3\u591a\u7cd6\u75c7\u306e\u75c7\u72b6\u306b\u52a0\u3048\u3066\u3001\u814e\u4e0d\u5168\u3084\u9032\u884c\u6027\u306e\u5897\u8840\u969c\u5bb3\u304c\u751f\u3058\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<br><br>A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.<br>Sofronova V, Fukushima Y, Masuno M, Naka M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Moriwaki T, Iwata R, Terawaki S, Yamanouchi Y, *Otomo T. &nbsp;<strong><em>Hum Genome Var.<\/em><\/strong>&nbsp;2022;9(1):26. <a rel=\"noreferrer noopener\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35879281\/\" target=\"_blank\"><span class=\"has-inline-color has-vivid-purple-color\"><span style=\"text-decoration: underline;\">PMID:&nbsp;35879281<\/span><\/span><\/a><br>IRUD\u306e\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306b\u95a2\u9023\u3057\u3001\u65b0\u898f\u30ca\u30f3\u30bb\u30f3\u30b9\u30d0\u30ea\u30a2\u30f3\u30c8\u3092\u5831\u544a\u3057\u307e\u3057\u305f\u3002RNA\u89e3\u6790\u306e\u7d50\u679c\u3001nonsense-mediated decay\u3068nonsense-associated altered splicing\u304c\u4e00\u3064\u306e\u5909\u7570\u304b\u3089\u540c\u6642\u306b\u5f15\u304d\u8d77\u3053\u3055\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3068\u306a\u308b\u3068\u3001\u4e00\u822c\u8ad6\u3068\u3057\u3066\u3001\u30ca\u30f3\u30bb\u30f3\u30b9\u30d0\u30ea\u30a2\u30f3\u30c8\u304c\u3042\u308b\u306a\u3089\u4e00\u7fa9\u7684\u306bpathogenic\u3068\u89e3\u91c8\u3057\u3066\u826f\u3044\u3082\u306e\u306a\u306e\u304b\u3069\u3046\u304b\uff1f\u7591\u554f\u304c\u6e67\u3044\u3066\u304d\u307e\u3059\u3088\u306d\u3002<br><br>\u3054\u5354\u529b\u3044\u305f\u3060\u304d\u307e\u3057\u305f\u7686\u69d8\u3001\u3042\u308a\u304c\u3068\u3046\u3054\u3056\u3044\u307e\u3057\u305f\uff01<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u8ad6\u6587\u304c\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002 Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.Sofron&hellip;<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3],"tags":[],"class_list":["post-806","post","type-post","status-publish","format-standard","hentry","category-3"],"_links":{"self":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/posts\/806","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=806"}],"version-history":[{"count":6,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/posts\/806\/revisions"}],"predecessor-version":[{"id":870,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/posts\/806\/revisions\/870"}],"wp:attachment":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=806"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=806"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=806"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}