Dagan Jenkins

Pharmacological rescue of cilia trafficking defects in IFT140 retinal organoid and RPE models of retinal dystrophy

This study uses human stem cell models to investigate IFT140 variants causing retinal dystrophy and identifies eupatilin as a potential therapeutic for cilia defects.

How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?

De-suppression of mesenchymal cell identities and variable phenotypic outcomes associated with knockout of Bbs1.

The paper investigates the role of BBS1 in suppressing mesenchymal cell identities in epithelial cells, showing clonal variability and dysregulation of EMT genes across tissues.

A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis.

This study identifies a zebrafish mutation in PPP2R3B that causes kyphoscoliosis, mirroring human idiopathic scoliosis, with associated osteoporosis and mitochondrial abnormalities.

Inherited duplications of PPP2R3B promote naevi and melanoma via a novel C21orf91-driven proliferative phenotype

This study identifies inherited PPP2R3B duplications as a melanoma predisposing factor, revealing a C21orf91-driven proliferative phenotype in melanocytes.

Diverse Species-Specific Phenotypic Consequences of Loss of Function Sorting Nexin 14 Mutations

This study examines the phenotypic effects of SNX14 loss-of-function mutations in mice and zebrafish, revealing species-specific consequences despite conserved biochemical roles.

Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia

The paper uses whole exome sequencing to identify ciliary gene mutations in nonsyndromic biliary atresia, finding significant enrichment of deleterious variants in liver-expressed ciliary genes.