Thomas L. Saunders

Genomic Engineering of Gene Dosage: A Generalizable Framework for Modeling Haploinsufficiency-Mediated Human Disorders through Splicing Modulation

This paper introduces a framework to model haploinsufficiency-mediated human disorders by modulating gene dosage through splicing, demonstrating its application in creating accurate animal models for cardiomyopathies.

The C2 domain augments Ras GTPase Activating Protein catalytic activity

This study shows the C2 domain enhances Ras GTPase activating protein catalytic activity by interacting with the Ras allosteric lobe, as demonstrated through structural analysis and mutation studies in mice and SynGAP.

Asynchronous microexon splicing of LSD1 and PHF21A during neurodevelopment

The paper shows that PHF21A microexon expression precedes LSD1 microexon expression during neurodevelopment, leading to stepwise deactivation of the LSD1-PHF21A complex and unique gene-regulatory roles in neurons.

SIRT5 variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology

The paper identifies two SIRT5 variants in mitochondrial disease patients that reduce protein stability and activity but not neuropathology, using biochemical and mouse model analyses.

A novel inducible von Willebrand Factor Cre Recombinase mouse strain to study microvascular endothelial cell-specific biological processes in vivo.

This paper develops a Tamoxifen-inducible vWF Cre recombinase mouse strain to study microvascular endothelial cell-specific gene function in vivo.

Effect of selective lesions of nucleus accumbens μ-opioid receptor-expressing cells on heroin self-administration in male and female rats: a study with novel Oprm1-Cre knock-in rats

This study introduces a CRISPR-based Oprm1-Cre knock-in rat to investigate the role of nucleus accumbens MOR-expressing cells in heroin self-administration, finding sex-specific effects on acquisition and effort.

Noncoding microdeletion in mouse Hgf disrupts neural crest migration into the stria vascularis, reduces the endocochlear potential and suggests the neuropathology for human nonsyndromic deafness DFNB39

This paper identifies a noncoding 10bp deletion in Hgf in mice that causes hearing loss by disrupting neural crest migration into the stria vascularis and reducing the endocochlear potential, mirroring human DFNB39 deafness.

Knock-in rat lines with Cre recombinase at the dopamine D1 and adenosine 2a receptor loci.

The paper generates and validates two novel Cre-expressing rat lines for studying striatal pathways.

Whole exome sequencing of ENU-induced thrombosis modifier mutations in the mouse

The paper identifies a de novo mutation in Plcb4 that suppresses thrombosis in mice with Factor V Leiden and tissue factor pathway inhibitor mutations.

Knock-in rats expressing Cre and Flp recombinases at the Parvalbumin locus.

The paper generates and validates two knock-in rat strains expressing Cre or Flp recombinase under the Parvalbumin promoter for studying inhibitory interneurons.

Murine SEC24D Can Substitute Functionally for SEC24C in vivo

This study shows that SEC24D can functionally substitute for SEC24C in mice, as Sec24cc-d/c-d pups survive to term despite embryonic lethality in Sec24c null mice.

Optimizing CRISPR/Cas9 System to Precisely Model Plasminogen Activator Inhibitor-1 Point Mutations in Mice

This study optimizes CRISPR/Cas9 to model specific PAI-1 mutations in mice, finding that mutation distance from the DSB site affects editing efficiency.

A sensitized mutagenesis screen in Factor V Leiden mice identifies novel thrombosis suppressor loci

The paper identifies novel thrombosis suppressor loci using a sensitized mutagenesis screen in Factor V Leiden mice, finding F8 and the Tfpi/F3 axis, as well as Actr2, play key roles in thrombosis regulation.