Jeremy W. Prokop

The paper develops rat models with modified sex chromosomes to study sex differences in physiology and disease by comparing XX vs. XY and varying X/Y chromosome numbers.

This paper uses a sheep model of right-sided heart failure to identify transcriptional changes in the tricuspid valve and other cardiac tissues, highlighting sex-specific and disease-related gene expression patterns.

The paper shows that Kit Ligand and Kit receptor maintain synaptic inhibition in Purkinje Cells through their expression in specific neuronal populations.

The paper compares transcriptomic profiles of CF probands and their parents to healthy controls, revealing CFTR-related immune dysfunction in both homozygous and heterozygous carriers.

This study identifies a PEA15 mutation in domestic cats causing lissencephaly and cerebral malformations, revealing a role for PEA15 in gyrencephalic brain development.

This study assesses how TSC1 missense variants affect cortical inhibitory interneurons, revealing some variants can partially restore function while others show specific deficits.

The paper presents VIStEDD, a database of SARS-CoV-2 structural and evolutionary dynamics, highlighting conserved amino acids and variants in ACE2/SLC6A19/TMPRSS2 linked to pandemic susceptibility.

Genome sequencing for early-onset dementia identified genetic variants in 50% of patients, including pathogenic variants and moderate penetrance alleles, supporting an oligogenic model.

The paper identifies de novo mutations in RALA, a RAS-like GTPase, as a cause of intellectual disability and developmental delay, showing their functional impact on GTP binding and effector interactions.

The paper presents ChIP-seq data for 208 DNA-associated proteins in HepG2 cells, revealing occupancy patterns and DNA motifs, and distinguishing promoters from enhancers.