{"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&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":"

Two new mutations identified as possible causes of rare blood disorder <\/strong><\/span><\/p>\r\n

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

The findings were reported in a paper published in Blood Advances<\/em><\/a> on February 27, 2024.<\/span><\/p>\r\n

News Release for this research: https:\/\/www.eurekalert.org\/news-releases\/1039061<\/a><\/span><\/p>\r\n

\u3010Paper Information\u3011<\/span><\/strong>
Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice<\/span>
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>
Blood Advances<\/em> 2024; 8 (4): 991\u20131001 https:\/\/doi.org\/10.1182\/bloodadvances.2023011490<\/a><\/span><\/p>\r\n

*\uff1aco-first authors<\/span><\/p>","protected":false},"featured_media":151,"parent":0,"template":"","news_cat":[],"class_list":["post-687","news","type-news","status-publish","has-post-thumbnail","hentry"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\t