Jay L. Vivian

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome

This paper describes novel Epg5 mutant mouse models of Vici syndrome, showing progressive neuroinflammation and motor deficits, and highlights the role of neuroglial activation in disease pathogenesis.

CONDITIONALLY MUTANT ANIMAL MODEL FOR INVESTIGATING THE INVASIVE TROPHOBLAST CELL LINEAGE

This paper develops a conditional rat model to study invasive trophoblast cell lineage regulation and its role in uterine spiral artery remodeling.

DOT1L methyltransferase regulates the calcium influx in erythroid progenitor cells in response to erythropoietin

This study shows that DOT1L regulates TRPC6 expression in erythroid progenitor cells, affecting calcium influx and erythropoiesis.

DOT1L primarily acts as a transcriptional repressor in hematopoietic progenitor cells

This study investigates the role of DOT1L in hematopoietic progenitor cells by analyzing transcriptomes of knockout and mutant models, revealing its function as a transcriptional repressor.

The Role of DOT1L Methyltransferase Activity in Fetal Hematopoiesis

This study shows that DOT1L methyltransferase activity is essential for early murine hematopoiesis, as its loss causes embryonic lethality and genomic instability in hematopoietic progenitors.

Genetic interaction of mammalian IFT-A paralogs regulates cilia disassembly, ciliary protein trafficking, Hedgehog signaling and embryogenesis

This study investigates the roles of Thm1 and Thm2 in cilia function and embryogenesis using mouse embryonic fibroblasts, revealing their distinct and overlapping contributions to ciliary dynamics and signaling.