一种与相关的CILK1变体影响了KATNIP调节,并损害了初级乳头和刺信号传输

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Updated: Jun 17, 2025

Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis
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Ana Limerick1, Ellie A McCabe1, Jacob S Turner1

  • 1Department of Pharmacology, University of Virginia, Charlottesville, VA 22908, USA.

Cells
|August 9, 2024
PubMed
概括

纤毛发育相关激酶1 (CILK1) 的突变会损害初级纤毛功能. 一种与青少年肌性 (JME) 相关的CILK1变体破坏了毛维护和刺信号,即使只有一种改变的等位基因.

关键词:
这就是CILK1的意义.刺的信号传递方式卡特尼普 (KATNIP) 是一个是一种.主要的乳毛是主要的乳毛.变种 变种 变种 变种 变种

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