Jonathan D. Smith

This study investigates the role of Pck1 in atherosclerosis using a mouse model and finds that its deficiency does not affect aortic root atherosclerosis.

The paper characterizes the avascular mesenchyme during digit outgrowth, finding it essential for patterning and revealing a distinct transcriptional identity and unexpected relationship with phalanx formation.

This study shows that MBOAT7 loss of function in hepatocytes causes ethanol-induced liver injury by disrupting lysosomal biogenesis and autophagic flux.

The paper identifies rs17171731 as the causal SNP regulating FAM13B expression linked to atrial fibrillation and shows its effect on cardiomyocyte gene expression and sodium current.

The paper identifies a SNP in the 3' UTR of the Pycard gene in mice that affects mRNA stability and inflammasome activity through CRISPR/Cas9 editing.

This study identifies Gpnmb as a modifier of lysosome function in macrophages using QTL analysis in an AKR/JxDBA/2J intercross, showing its impact on proteolysis but not cholesterol metabolism.

This study identifies AF-associated SNPs in SYNE2 that reduce SYNE21 expression and increase nuclear stiffness, potentially contributing to AF pathogenesis.

The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.