A5038651475- Congenital heart defects research
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Cardiomyopathy and Myosin Studies
- Single-cell and spatial transcriptomics
- Developmental Biology and Gene Regulation
- Tissue Engineering and Regenerative Medicine
- RNA Research and Splicing
- Congenital Heart Disease Studies
- Muscle Physiology and Disorders
- Platelet Disorders and Treatments
- Prenatal Screening and Diagnostics
- Blood groups and transfusion
- Hedgehog Signaling Pathway Studies
- Pluripotent Stem Cells Research
- Zebrafish Biomedical Research Applications
- CRISPR and Genetic Engineering
- Cancer Genomics and Diagnostics
- Hematopoietic Stem Cell Transplantation
- Cancer-related molecular mechanisms research
- Gene expression and cancer classification
- Blood properties and coagulation
- Cell Adhesion Molecules Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
The University of Melbourne
2016-2025
The George Institute for Global Health
2025
University of Bristol
2025
Walter and Eliza Hall Institute of Medical Research
2012-2024
Victor Chang Cardiac Research Institute
2001-2011
The Royal Melbourne Hospital
1997-2011
UNSW Sydney
2000-2006
St. Vincent's Hospital
2006
Sydney Children's Hospital
2006
St Vincent's Hospital
1998-2006
Chemotactic cytokines (chemokines) attract immune cells, although their original evolutionary role may relate more closely with embryonic development. We noted differential expression of the chemokine receptor CXCR7 (RDC-1) on marginal zone B a cell type associated autoimmune diseases. generated Cxcr7 −/− mice but found that deficiency had little effect composition. However, most died at birth ventricular septal defects and semilunar heart valve malformation. Conditional deletion in...
Abstract —Heterozygous mutations in the cardiac homeobox gene, NKX2-5 , underlie familial cases of atrial septal defect (ASD) with severe atrioventricular conduction block. In this study, mice heterozygous for Nkx2-5 –null alleles were assessed analogous defects. Although ASD occurred only rarely, dysmorphogenesis was evident as increased frequencies patent foramen ovale and aneurysm, decreased length septum primum flap valve. These parameters compounded by genetic background effects, 129/Sv...
One of the first morphological manifestations left/right (L/R) asymmetry in mammalian embryos is a pronounced rightward looping linear heart tube. The direction thought to be controlled by signals from an embryonic L/R axial system. We report here that murine became apparent at tube stage as leftward displacement its caudal aspect. Beginning same stage, basic helix-loop-helix (bHLH) factor gene eHand was expressed strikingly left-dominant pattern myocardium, reflecting intrinsic molecular...
The genetic hierarchies guiding lineage specification and morphogenesis of the mammalian embryonic heart are poorly understood. We now show by gene targeting that murine T-box transcription factor Tbx20 plays a central role in these pathways, has important activities both cardiac development adult function. Loss results death embryos at mid-gestation with grossly abnormal morphogenesis. Underlying disturbances was severely compromised transcriptional program,defects molecular pre-pattern,...
During haematopoiesis, haematopoietic stem cells differentiate into restricted potential progenitors before maturing the many lineages required for oxygen transport, wound healing and immune response. We have updated Haemopedia, a database of gene-expression profiles from broad spectrum cells, to include RNA-seq data both mice humans. The Haemopedia set covers wide range progenitors, with 57 mouse blood cell types (flow sorted populations healthy mice) 12 human types. This has been made...
Single-cell RNA sequencing (scRNA-seq) technology allows researchers to profile the transcriptomes of thousands cells simultaneously. Protocols that incorporate both designed and random barcodes have greatly increased throughput scRNA-seq, but give rise a more complex data structure. There is need for new tools can handle various barcoding strategies used by different protocols exploit this information quality assessment at sample-level provide effective visualization these results in...
Hematopoiesis is a multistage process involving the differentiation of stem and progenitor cells into distinct mature cell lineages. Here we present Haemopedia, an atlas murine gene-expression data containing 54 hematopoietic types, covering all lineages in hematopoiesis. We include rare populations such as eosinophils, mast cells, basophils, megakaryocytes, broad collection cells. show that lineage branching maturation during hematopoiesis can be reconstructed using expression patterns...
Abstract MLKL is the essential effector of necroptosis, a form programmed lytic cell death. We have isolated mouse strain with single missense mutation, Mlkl D139V , that alters two-helix ‘brace’ connects killer four-helix bundle and regulatory pseudokinase domains. This confers constitutive, RIPK3 independent killing activity to MLKL. Homozygous mutant mice develop lethal postnatal inflammation salivary glands mediastinum. The normal embryonic development homozygotes until birth, absence...
Abstract During embryogenesis, haematopoietic and endothelial lineages emerge closely in time space. It is thought that the first blood endothelium derive from a common clonal ancestor, haemangioblast. However, investigation of candidate haemangioblasts vitro revealed capacity for mesenchymal differentiation, feature more compatible with an earlier mesodermal precursor. To date, no evidence vivo haemangioblast has been discovered. Using single cell RNA-Sequencing cellular barcoding, we have...
Single-cell RNA sequencing (scRNA-Seq) has emerged as a powerful tool for understanding cellular heterogeneity and function. However the choice of sample multiplexing reagents can impact data quality experimental outcomes. In this study, we compared various reagents, including MULTI-Seq, Hashtag antibody, CellPlex, across diverse types such human peripheral blood mononuclear cells (PBMCs), mouse embryonic brain patient-derived xenografts (PDXs). We found that all worked well in cell robust...
The presence of histone 3 lysine 9 (H3K9) methylation on the mouse inactive X chromosome has been controversial over last 15 years, and functional role H3K9 in inactivation any species remained largely unexplored. Here we report first genomic analysis di- tri-methylation X: find they are enriched at intergenic, gene poor regions X, interspersed between H3K27 domains found dense regions. Although is predominantly non-genic, that depletion via methyltransferase Set domain bifurcated 1 (Setdb1)...
How platelets are produced by megakaryocytes in vivo remains controversial despite more than a century of investigation. Megakaryocytes readily produce proplatelet structures vitro; however, visualization platelet release from proplatelets has remained elusive. We show that within the native prenatal and adult environments, frequency rate formation is incompatible with physiological demands replacement. resolve this inconsistency performing in-depth analysis plasma membrane budding, cellular...
We report the cloning, chromosomal localization, and analysis of expression pattern epicardin, a member basic helix-loop-helix (bHLH) family transcription factors. Within its bHLH domain, human murine epicardin genes were most similar to paraxis, gene important for segmentation embryonic paraxial mesoderm. In situ hybridization studies revealed strong in embryos at 9.5 days postcoitum (dpc) region septum transversum base heart known as proepicardial organ. This mesenchymal structure extends...
We have isolated a murine cDNA encoding 9-kD protein, Chisel (Csl), in screen for transcriptional targets of the cardiac homeodomain factor Nkx2-5. Csl transcripts were detected atria and ventricles heart all skeletal muscles smooth stomach pulmonary veins. protein was distributed throughout cytoplasm fetal muscles, although costameric M-line localization to muscle cytoskeleton became obvious after further maturation. Targeted disruption showed no overt phenotype. However, ectopic expression...
EDD is the mammalian ortholog of Drosophila melanogaster hyperplastic disc gene (hyd), which critical for cell proliferation and differentiation in flies through regulation hedgehog decapentaplegic signaling. Amplification overexpression occurs frequently several cancers, including those breast ovary, truncating mutations are also observed gastric colon cancer with microsatellite instability. has E3 ubiquitin ligase activity, involved DNA damage response, may control signaling, but a...