{"id":687,"date":"2024-03-27T16:45:25","date_gmt":"2024-03-27T07:45:25","guid":{"rendered":"https:\/\/igcore.thers.ac.jp\/en\/?post_type=news&#038;p=687"},"modified":"2024-03-27T16:45:25","modified_gmt":"2024-03-27T07:45:25","slug":"687-2","status":"publish","type":"news","link":"https:\/\/igcore.thers.ac.jp\/en\/news\/687-2.html","title":{"rendered":"Dr Yuji Kondo has published their research results in Blood Advances"},"content":{"rendered":"<p><span style=\"font-family: arial, helvetica, sans-serif;\"><strong>Two new mutations identified as possible causes of rare blood disorder <\/strong><\/span><\/p>\r\n<p><span style=\"font-family: arial, helvetica, sans-serif;\">Researchers have uncovered two novel gene mutations that may be responsible for a rare blood disorder. The mutations are found on the GNE gene and impact an enzyme, also called GNE, that is involved in the synthesis of sialic acid and a process called sialylation, which is critical for brain development. The mutations were first identified in a pediatric patient with macrothrombocytopenia, also called a giant platelet disorder because of the enlarged size of blood platelets.<\/span><\/p>\r\n<p><span style=\"font-family: arial, helvetica, sans-serif;\">The findings were reported in a paper published in <a href=\"https:\/\/ashpublications.org\/bloodadvances\/article\/8\/4\/991\/514638\/Novel-GNE-missense-variants-impair-de-novo\"><em>Blood Advances<\/em><\/a> on February 27, 2024.<\/span><\/p>\r\n<p><span style=\"font-family: arial, helvetica, sans-serif;\">News Release for this research: <a href=\"https:\/\/www.eurekalert.org\/news-releases\/1039061\">https:\/\/www.eurekalert.org\/news-releases\/1039061<\/a><\/span><\/p>\r\n<p><strong><span style=\"font-family: arial, helvetica, sans-serif;\">\u3010Paper Information\u3011<\/span><\/strong><br><span style=\"font-family: arial, helvetica, sans-serif;\">Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice<\/span><br><span style=\"font-family: arial, helvetica, sans-serif;\">Lulu Huang*, Yuji Kondo*, Lijuan Cao, Jingjing Han, Tianyi Li, Bin Zuo, Fei Yang, Yun Li, Zhenni Ma, Xia Bai, Miao Jiang, Changgeng Ruan, and Lijun Xia<\/span><br><span style=\"font-family: arial, helvetica, sans-serif;\"><em>Blood Advances<\/em> 2024; 8 (4): 991\u20131001 <a href=\"https:\/\/doi.org\/10.1182\/bloodadvances.2023011490\">https:\/\/doi.org\/10.1182\/bloodadvances.2023011490<\/a><\/span><\/p>\r\n<p><span style=\"font-family: arial, helvetica, sans-serif;\">*\uff1aco-first authors<\/span><\/p>","protected":false},"featured_media":151,"parent":0,"template":"","news_cat":[],"acf":[],"_links":{"self":[{"href":"https:\/\/igcore.thers.ac.jp\/en\/wp-json\/wp\/v2\/news\/687"}],"collection":[{"href":"https:\/\/igcore.thers.ac.jp\/en\/wp-json\/wp\/v2\/news"}],"about":[{"href":"https:\/\/igcore.thers.ac.jp\/en\/wp-json\/wp\/v2\/types\/news"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/igcore.thers.ac.jp\/en\/wp-json\/wp\/v2\/media\/151"}],"wp:attachment":[{"href":"https:\/\/igcore.thers.ac.jp\/en\/wp-json\/wp\/v2\/media?parent=687"}],"wp:term":[{"taxonomy":"news_cat","embeddable":true,"href":"https:\/\/igcore.thers.ac.jp\/en\/wp-json\/wp\/v2\/news_cat?post=687"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}