Examining the role of INPP5E in human disease
Examining the role of INPP5E in human disease
批准号:
nhmrc : 1046174
负责人:
A/Pr Ian Smyth
金额:
$41.64万
依托单位:
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
项目状态:
已结题
起止时间:
2013-01-01 至 2015-12-31
中文摘要
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英文摘要
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.
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