Julia A. Horsfield
YOU?
Author Swipe
View article: An Upstream <scp> <i>RUNX3</i> </scp> Enhancer, <scp>eR3</scp> (−18m/−28h), Regulates the Development of Gut‐Associated Anti‐Tumorigenic <scp>CD8</scp> <sup>+</sup> <scp>CD103</scp> <sup>+</sup> Cytotoxic T Lymphocytes in Mouse and Human
An Upstream <span> <i>RUNX3</i> </span> Enhancer, <span>eR3</span> (−18m/−28h), Regulates the Development of Gut‐Associated Anti‐Tumorigenic <span>CD8</span> <sup>+</sup> <span>CD103</span> <sup>+</sup> Cytotoxic T Lymphocytes in Mouse and Human Open
The RUNX3 gene is frequently involved in a variety of cancers and immunological diseases. Despite such widespread association with human diseases, the transcriptional regulation of RUNX3 remains elusive. Here we report the identification o…
View article: The ratio of Wnt signaling activity to Sox2 transcription factor levels predicts neuromesodermal fate potential
The ratio of Wnt signaling activity to Sox2 transcription factor levels predicts neuromesodermal fate potential Open
Neuromesodermal progenitors (NMPs) are a vertebrate cell type that contribute descendants to both the spinal cord and the mesoderm. The undifferentiated bipotential NMP state is maintained when both Wnt signaling is active and Sox2 is pres…
View article: Cohesin <i>rad21</i> mutation dysregulates erythropoiesis and granulopoiesis output within the whole kidney marrow of adult zebrafish
Cohesin <i>rad21</i> mutation dysregulates erythropoiesis and granulopoiesis output within the whole kidney marrow of adult zebrafish Open
Mutations in cohesin subunit genes are early events in leukemogenesis. This study characterizes the hematopoietic compartment of adult zebrafish that carry germline heterozygous mutation in cohesin subunit, rad21. Our results show that des…
View article: Cohesin composition and dosage independently affect early development in zebrafish
Cohesin composition and dosage independently affect early development in zebrafish Open
Cohesin, a chromatin-associated protein complex with four core subunits (Smc1a, Smc3, Rad21 and either Stag1 or 2), has a central role in cell proliferation and gene expression in metazoans. Human developmental disorders termed ‘cohesinopa…
View article: Methamphetamine effects in zebrafish (Danio rerio) depend on behavioral endpoint, dose and test session duration
Methamphetamine effects in zebrafish (Danio rerio) depend on behavioral endpoint, dose and test session duration Open
Research using zebrafish (Danio rerio) has begun to provide novel information in many fields, including the behavioral pharmacology of drug use and misuse. There have been limited studies on the effects of methamphetamine in adult zebrafis…
View article: Cohesin composition and dosage independently affect early development in zebrafish
Cohesin composition and dosage independently affect early development in zebrafish Open
Cohesin, a chromatin-associated protein complex with four core subunits (Smc1a, Smc3, Rad21 and either Stag1 or 2), has a central role in cell proliferation and gene expression in metazoans. Human developmental disorders termed “cohesinopa…
View article: Full circle: a brief history of cohesin and the regulation of gene expression
Full circle: a brief history of cohesin and the regulation of gene expression Open
The cohesin complex has a range of crucial functions in the cell. Cohesin is essential for mediating chromatid cohesion during mitosis, for repair of double‐strand DNA breaks, and for control of gene transcription. This last function has b…
View article: Riboceine Rescues Auranofin-Induced Craniofacial Defects in Zebrafish
Riboceine Rescues Auranofin-Induced Craniofacial Defects in Zebrafish Open
Craniofacial abnormalities are a common group of congenital developmental disorders that can require intensive oral surgery as part of their treatment. Neural crest cells (NCCs) contribute to the facial structures; however, they are extrem…
View article: Transcriptional Regulation of RUNX1: An Informatics Analysis
Transcriptional Regulation of RUNX1: An Informatics Analysis Open
The RUNX1/AML1 gene encodes a developmental transcription factor that is an important regulator of haematopoiesis in vertebrates. Genetic disruptions to the RUNX1 gene are frequently associated with acute myeloid leukaemia. Gene regulatory…
View article: Cohesin Mutations in Cancer: Emerging Therapeutic Targets
Cohesin Mutations in Cancer: Emerging Therapeutic Targets Open
The cohesin complex is crucial for mediating sister chromatid cohesion and for hierarchal three-dimensional organization of the genome. Mutations in cohesin genes are present in a range of cancers. Extensive research over the last few year…
View article: Genetic Variation as a Long-Distance Modulator of <i>RAD21</i> Expression in Humans
Genetic Variation as a Long-Distance Modulator of <i>RAD21</i> Expression in Humans Open
Mutations and changes in expression in RAD21 are common across cancers types and outside of cancer can result in cohesinopathy. As such, exploration of variants that modify RAD21 enhancer activity, across the genome, may also provide insig…
View article: Leptin regulates glucose homeostasis via the canonical WNT pathway
Leptin regulates glucose homeostasis via the canonical WNT pathway Open
Summary Leptin is a body weight regulatory hormone, but it is arguably even more potent at regulating blood glucose levels. To further our understanding of the molecular mechanisms by which leptin controls glucose homeostasis, we have used…
View article: Chlorogenic Acid Supplementation Benefits Zebrafish Embryos Exposed to Auranofin
Chlorogenic Acid Supplementation Benefits Zebrafish Embryos Exposed to Auranofin Open
Antioxidant supplementation may potentially be beneficial for embryonic development to reduce complications associated with increased levels of oxidative stress. Chlorogenic acid, one of the key polyphenolic antioxidants in S. oleraceus, w…
View article: Cohesin Components Stag1 and Stag2 Differentially Influence Haematopoietic Mesoderm Development in Zebrafish Embryos
Cohesin Components Stag1 and Stag2 Differentially Influence Haematopoietic Mesoderm Development in Zebrafish Embryos Open
Cohesin is a multiprotein complex made up of core subunits Smc1, Smc3, and Rad21, and either Stag1 or Stag2. Normal haematopoietic development relies on crucial functions of cohesin in cell division and regulation of gene expression via th…
View article: Cohesin mutations are synthetic lethal with stimulation of WNT signaling
Cohesin mutations are synthetic lethal with stimulation of WNT signaling Open
Mutations in genes encoding subunits of the cohesin complex are common in several cancers, but may also expose druggable vulnerabilities. We generated isogenic MCF10A cell lines with deletion mutations of genes encoding cohesin subunits SM…
View article: Author response: Cohesin mutations are synthetic lethal with stimulation of WNT signaling
Author response: Cohesin mutations are synthetic lethal with stimulation of WNT signaling Open
Article Figures and data Abstract Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract Mutations in genes encoding subunits of th…
View article: Cohesin components Stag1 and Stag2 differentially influence haematopoietic mesoderm development in zebrafish embryos
Cohesin components Stag1 and Stag2 differentially influence haematopoietic mesoderm development in zebrafish embryos Open
Cohesin is a multiprotein complex made up of core subunits Smc1, Smc3 and Rad21, and either Stag1 or Stag2. Normal haematopoietic development relies on crucial functions of cohesin in cell division and regulation of gene expression via thr…
View article: Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways
Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways Open
Background: The cohesin complex plays an essential role in genome organisation and cell division. A full complement of the cohesin complex and its regulators is important for normal development, since heterozygous mutations in genes encodi…
View article: Cohesin mutations are synthetic lethal with stimulation of WNT signaling
Cohesin mutations are synthetic lethal with stimulation of WNT signaling Open
Mutations in genes encoding subunits of the cohesin complex are common in several cancers, but may also expose druggable vulnerabilities. We generated isogenic MCF10A cell lines with deletion mutations of genes encoding cohesin subunits SM…
View article: Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways
Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways Open
Variants in DNA regulatory elements can alter the regulation of distant genes through spatial-regulatory connections. In humans, these spatial-regulatory connections are largely set during early development, when the cohesin complex plays …
View article: BET inhibition prevents aberrant RUNX1 and ERG transcription in STAG2 mutant leukaemia cells
BET inhibition prevents aberrant RUNX1 and ERG transcription in STAG2 mutant leukaemia cells Open
Mutations in the subunits of the cohesin complex, particularly in the STAG2 subunit, have been identified in a range of myeloid malignancies, but it is unclear how these mutations progress leukaemia. Here, we created isogenic K562 erythrom…
View article: A non-coding genetic variant associated with abdominal aortic aneurysm alters ERG gene regulation
A non-coding genetic variant associated with abdominal aortic aneurysm alters ERG gene regulation Open
Abdominal aortic aneurysm (AAA) is a major cause of sudden death in the elderly. While AAA has some overlapping genetic and environmental risk factors with atherosclerosis, there are substantial differences, and AAA-specific medication is …
View article: A variant of the castor zinc finger 1 (CASZ1) gene is differentially associated with the clinical classification of chronic venous disease
A variant of the castor zinc finger 1 (CASZ1) gene is differentially associated with the clinical classification of chronic venous disease Open
Recent reports have suggested a reproducible association between the rs11121615 SNP, located within an intron of the castor zinc finger 1 ( CASZ1) gene, and varicose veins. This study aimed to determine if this variant is also differential…
View article: BET inhibition prevents aberrant RUNX1 and ERG transcription in STAG2 mutant leukaemia cells
BET inhibition prevents aberrant RUNX1 and ERG transcription in STAG2 mutant leukaemia cells Open
Mutations in the subunits of the cohesin complex, particularly in the STAG2 subunit, have been identified in a range of myeloid malignancies, but it is unclear how these mutations progress leukaemia. Here, we created isogenic K562 erythrom…
View article: Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control
Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control Open
Serum urate is the end-product of purine metabolism. Elevated serum urate is causal of gout and a predictor of renal disease, cardiovascular disease and other metabolic conditions. Genome-wide association studies (GWAS) have reported dozen…
View article: Corrigendum: Functional Urate-Associated Genetic Variants Influence Expression of lincRNAs LINC01229 and MAFTRR
Corrigendum: Functional Urate-Associated Genetic Variants Influence Expression of lincRNAs LINC01229 and MAFTRR Open
[This corrects the article DOI: 10.3389/fgene.2018.00733.].
View article: Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018 Open
Cornelia de Lange Syndrome (CdLS), due to mutations in genes of the cohesin protein complex, is described as a disorder of transcriptional regulation. Phenotypes in this expanding field include short stature, microcephaly, intellectual dis…
View article: Functional Urate-Associated Genetic Variants Influence Expression of lincRNAs LINC01229 and MAFTRR
Functional Urate-Associated Genetic Variants Influence Expression of lincRNAs LINC01229 and MAFTRR Open
Genetic variation in the genomic regulatory landscape likely plays a crucial role in the pathology of disease. Non-coding variants associated with disease can influence the expression of long intergenic non-coding RNAs (lincRNAs), which in…
View article: A non-coding genetic variant maximally associated with serum urate levels is functionally linked to HNF4A-dependent PDZK1 expression
A non-coding genetic variant maximally associated with serum urate levels is functionally linked to HNF4A-dependent PDZK1 expression Open
The precise molecular mechanisms by which urate-associated genetic variants affect urate levels are unknown. Here, we tested for functional linkage of the maximally associated genetic variant rs1967017 at the PDZK1 locus to elevated PDZK1 …