Examining the role of INPP5E in human disease

检查 INPP5E 在人类疾病中的作用

• 批准号: nhmrc : 1046174
• 负责人: A/Pr Ian Smyth
• 金额: $ 41.64万
• 依托单位: Monash University
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/examining-role-inpp5e-human-disease/111822
• 关键词: Examining; role; INPP5E; human; disease

Ciliopathies are an emerging group of syndromes in society that have devastating health effects. Ciliopathy patients exhibit a specturm of disorders including polycystic kidneys, extra digits, retinal degeneration and neural tube defects. INPP5E is a gene that is mutated in patients with a ciliopathy syndrome. These studies will determine the role of INPP5E in ciliopathy disease and may identify INPP5E as a novel treatment target.

纤毛病是一组新兴的综合征在社会上有破坏性的健康影响。睫状体病患者表现出一系列的疾病，包括多囊肾，额外的数字，视网膜变性和神经管缺陷。INPP5E是一种在纤毛病变综合征患者中发生突变的基因。这些研究将确定INPP5E在纤毛病变疾病中的作用，并可能将INPP5E确定为新的治疗靶点。