Pleasantine Mill

The paper shows that tag fusions can have tissue-specific effects on protein stability in transgenic mice, depending on the cell and tissue environment.

The paper identifies common early defects in autophagy and mitochondrial damage in multiple IRD models, leading to necroptosis and photoreceptor loss, suggesting potential gene-agnostic therapeutic targets.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

This study shows that whole genome sequencing (WGS) can achieve a high diagnostic rate for primary ciliary dyskinesia by identifying structural variants and novel disease genes.

This study shows that SRSF1 shuttling between nucleus and cytoplasm is essential for ciliogenesis and development, as demonstrated by phenotypic defects in a mouse model with nuclear-retained SRSF1.

The paper introduces FIVER, a multispectral reporter for in vivo genome editing that detects NHEJ, HDR, and HITI with fluorescent read-outs, demonstrating its utility in primary cells, organoids, and in vivo models.