Robert K. Semple

This study identifies a conserved Foxp1-Pde4d regulatory axis that preserves inflammatory responsiveness by controlling cAMP signaling across vertebrate species.

This study shows that PIK3CA mutations cause lineage-specific niche changes in vascular endothelium, leading to tissue malformations that can be partially prevented by PI3K inhibition.

This study shows adiponectin influences sex-specific metabolic changes during caloric restriction, affecting glucose, lipid, and amino acid metabolism through hepatic mechanisms.

This paper introduces H-MIP, a high-throughput platform for mitochondrial morphology analysis, and applies it to study mitochondrial changes in vascular calcification.

The paper develops zebrafish models of PROS to show that PIK3CA mutations cause non-cell-autonomous overgrowth through pan-lineage gene expression and communication changes.

This study evaluates 'kill or cure' strategies for MFN2-related lipodystrophy, finding that ethanol mildly worsens the condition in mice while rapamycin is well-tolerated but lacks efficacy in targeting Mfn2R707W cells.

This study investigates whether increased energy expenditure in Pik3r1-related insulin resistance is due to Ucp1-mediated thermogenesis, finding no evidence for this mechanism.

The paper uses deep mutational scanning to assess the functional impact of INSR variants, identifying clinically relevant function scores and potential gain-of-function variants.

This study identifies rare loss of function variants in four genes associated with beneficial changes in body fat distribution using genome-wide and exome-sequence data from UK Biobank.

This study creates a mouse model of SHORT syndrome by introducing a Pik3r1 mutation, revealing lipodystrophic insulin resistance without dyslipidemia.