P. Mill

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes

This study investigates the effects of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes using mouse models, revealing allele-specific and tissue-specific molecular requirements for cilia motor assembly.

Ciliary tip actin dynamics regulate the cadenceof photoreceptor disc formation

This study shows that actin dynamics at photoreceptor cilia tips regulate disc formation, and RPGR mutations disrupt this process, leading to retinal degeneration.

Primary cilia loss promotes reactivation of morphogenesis and cyst-fission through a deregulated TGFβ-ECM-Integrin axis in polycystic liver disease.

The paper shows that loss of primary cilia in adult mouse bile duct cells leads to cyst formation via a fibronectin-rich microenvironment and a novel cyst-fission process, which can be inhibited by targeting a specific integrin receptor.

Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis.

This study shows that PCM1 and centriolar satellites are essential for efficient ciliogenesis by facilitating protein trafficking and remodeling of the mother centriole.

In vivo modelling of patient genetic heterogeneity identifies concurrent Wnt and PI3K activity as a potent driver of invasive cholangiocarcinoma growth.

This study identifies concurrent Wnt and PI3K activity as drivers of invasive cholangiocarcinoma growth and shows that their co-inhibition slows tumor growth in vivo.

A WDR35-dependent coatomer transports ciliary membrane proteins from the Golgi to the cilia

The paper shows WDR35 is part of a coatomer complex that transports ciliary membrane proteins from the Golgi to cilia, essential for cilia elongation.

ZMYND10 functions in a chaperone relay during axonemal dynein assembly

This study identifies ZMYND10 as a co-chaperone for FKBP8-HSP90 in axonemal dynein assembly, showing its role in ciliary motility and implications for PCD treatment.