A novel molecular player in ciliopathy phenotypes

纤毛病表型的新分子参与者

• 批准号: nhmrc : 1045464
• 负责人: A/Pr Carol Wicking
• 金额: $ 42.98万
• 依托单位: The University of Queensland
• 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 2017-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/novel-molecular-player-ciliopathy-phenotypes/111751
• 关键词: novel; molecular; player; ciliopathy; phenotypes

Birth defects can have devastating consequences for individuals and their families, and improving our ability to diagnose and screen for these disorders has implications for treatment and reproductive options. We are using the mouse as a model to discover genes important in a new class of birth defects caused by dysfunction of a hair-like cellular projection known as the cilium.

出生缺陷可能对个人及其家庭造成毁灭性的后果，提高我们诊断和筛查这些疾病的能力对治疗和生殖选择具有影响。我们正在用小鼠作为模型来发现一类新的出生缺陷中的重要基因，这些缺陷是由毛发状细胞投射功能障碍引起的，这种细胞投影被称为纤毛。