Julia A. Horsfield

Loss of cohesin subunit Stag1 in zebrafish limits cell cycle progression and is compensated by altered BMP signalling and metabolic pathways

This study shows that loss of Stag1 in zebrafish impairs cell cycle progression and activates p53, but is compensated by changes in BMP signaling and metabolism.

The ratio of Wnt signaling activity to Sox2 transcription factor levels predicts neuromesodermal fate potential

The paper identifies a Wnt signaling to Sox2 ratio that predicts neuromesodermal fate potential in zebrafish and shows Sox2's role in maintaining progenitor states.

Cohesin composition and dosage independently affect early development in zebrafish

The paper shows that mutations in cohesin subunits rad21 and stag2b have distinct developmental effects in zebrafish, suggesting independent roles of cohesin quantity and composition in early development.

Genetic Variation as a Long-Distance Modulator of RAD21 Expression in Humans

The paper identifies 123 genomic variants that regulate RAD21 expression, both locally and distantly, and links them to cancer-related genes and Sp2 transcription factor binding sites.

Cohesin components Stag1 and Stag2 differentially influence haematopoietic mesoderm development in zebrafish embryos

This study shows that Stag1 and Stag2 differentially affect haematopoietic mesoderm development in zebrafish embryos, with stag1a and stag2b mutants showing distinct hematopoietic defects.

Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways

The paper identifies transcriptional connections and functional links between cohesin genes and disease-relevant pathways, showing their intolerance to expression variation.

Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.

This paper identifies 15 novel serum urate loci and links them to 44 genes, revealing new molecular mechanisms of urate control through genomic and eQTL analysis.

Cohesin facilitates zygotic genome activation in zebrafish

This study shows that cohesin is essential for zygotic genome activation in zebrafish by redistributing to active genes and influencing chromosome architecture.

A DNA Contact Map for the Mouse Runx1 Gene Identifies Novel Hematopoietic Enhancers

The paper identifies novel hematopoietic enhancers regulating Runx1 expression using DNA contact maps in mouse hematopoietic progenitor cells.

Variants at the ADAMTS13, BGALT5, SSBP2 and TKT Loci are associated with Post-term birth.

The paper identifies genetic variants associated with post-term birth in Northern Finland cohorts and links some to gene expression changes.