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 shows that deleting Alms1 in mesenchymal cells in mice causes metabolic issues similar to Alström Syndrome, including insulin resistance and fatty liver.

The paper investigates an activating PIK3R1 variant linked to immunodeficiency and finds it acts as a dominant negative, reducing p110 signaling and explaining overlapping phenotypes.

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.