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Regulation of the intraflagellar transport pathway, a mutational hotspot required for cilium formation and maintenance

Regulation of the intraflagellar transport pathway, a mutational hotspot required for cilium formation and maintenance
鞭毛内运输途径的调节,纤毛形成和维持所需的突变热点
批准号:
371335
负责人:
Leroux Michel R
金额:
$54.34万
依托单位国家:
加拿大
项目类别:
Operating Grants
财政年份:
2017
资助国家:
加拿大
项目状态:
已结题
起止时间:
2017-09-01 至 2022-09-01

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中文摘要
翻译
纤毛是在大多数人类细胞上发现的天线状结构,最近成为被称为纤毛疾病的遗传病的主要热点。目前已知有30多种不同的纤毛疾病,由近200个基因的突变引起。产品中的缺陷
英文摘要
Cilia, the antenna-shaped structures found on most human cells, have recently emerged as major hotspots for genetic diseases called ciliopathies. Over 30 different ciliopathies, caused by mutations in nearly 200 genes, are currently known. Defects in the
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会议论文
Cell biology of an evolutionarily conserved ciliary compartment essential for cellular signalling
Functional genomics of cilium formation and maintenance
Dissecting the molecular and cellular links between cilia, cGMP signaling, physiology and disease
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