A5052467613- Zebrafish Biomedical Research Applications
- Immune Cell Function and Interaction
- Cytokine Signaling Pathways and Interactions
- Immune Response and Inflammation
- Immunodeficiency and Autoimmune Disorders
- interferon and immune responses
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Aquaculture disease management and microbiota
- T-cell and B-cell Immunology
- Advanced Glycation End Products research
- Endoplasmic Reticulum Stress and Disease
- Transgenic Plants and Applications
- CRISPR and Genetic Engineering
- Congenital heart defects research
- Animal Genetics and Reproduction
- Atherosclerosis and Cardiovascular Diseases
- Pancreatic function and diabetes
- Immune cells in cancer
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Adipokines, Inflammation, and Metabolic Diseases
Fox Chase Cancer Center
2021-2025
The University of Melbourne
2025
Walter and Eliza Hall Institute of Medical Research
2025
Deakin University
2014-2023
Introduction Newborn screening for immunodeficiency has led to the identification of numerous cases which causal etiology is unknown. Methods Here we report diagnosis T lymphopenia unknown in a male proband. Whole exome sequencing (WES) was employed nominate candidate variants, were then analyzed functionally zebrafish and mice bearing orthologous mutations. Results WES revealed missense mutations CHTF18 that inherited an autosomal recessive manner. CTF18, encoded by gene, component...
The IL-2 family of cytokines act via receptor complexes that share the interleukin-2 gamma common (IL-2Rγc) chain to play key roles in lymphopoiesis. Inactivating IL-2Rγc mutations results severe combined immunodeficiency (SCID) humans and other species. This study sought generate an equivalent zebrafish SCID model. il2rga gene was targeted for genome editing using TALENs presumed loss-of-function alleles analyzed with respect immune cell development impacts on intestinal microbiota tumor...
The IL-2 receptor γ common (IL-2Rγc) chain is the shared subunit of receptors for family cytokines, which mediate signaling through JAK3 and various downstream pathways to regulate lymphopoiesis. Inactivating mutations in human IL-2Rγc result SCID, a primary immunodeficiency characterized by greatly reduced numbers lymphocytes. This study used bioinformatics, expression analysis, gene ablation, specific pharmacologic inhibitors investigate function two putative zebrafish paralogs, il-2rγc.a...
Background: Colony-stimulating factor 3 (CSF3), more commonly known as granulocyte colony-stimulating (G-CSF), acts via a specific cell surface receptor CSF3R (or G-CSFR) to regulate hematopoiesis, with particularly key role in the myeloid lineage where it impacts development and function of neutrophilic granulocytes. Zebrafish possess conserved homologue, Csf3r, which is involved both steady-state emergency myelopoiesis, well regulating early migration. Two CSF3 proteins have been...
Ribosomal proteins are thought to primarily facilitate biogenesis of the ribosome and its ability synthesize protein. However, in this study, we show that Rpl22-like1 (Rpl22l1) regulates hematopoiesis without affecting or bulk protein synthesis. Conditional loss murine Rpl22l1 using stage lineage-restricted Cre drivers impairs development several hematopoietic lineages. Specifically, Tie2-Cre-mediated ablation hemogenic endothelium emergence embryonic stem cells. Ablation late fetal liver...
Abstract Cytokine-inducible SH2 domain–containing protein (CISH), a member of the suppressor cytokine signaling family negative feedback regulators, is induced by cytokines that activate STAT5 and can inhibit in vitro. However, demonstration definitive vivo role for CISH during development has remained elusive. This study employed expression analysis morpholino-mediated knockdown zebrafish concert with bioinformatics biochemical approaches to investigate function. Two paralogs were...
B-cell lymphoma/leukemia 11B (BCL11B) is a C2H2 zinc finger transcription factor that critically important for regulating the development and function of variety systems including central nervous system, skin, immune system. Germline heterozygous variants are associated with spectrum clinical disorders, severe combined immunodeficiency as well neurological, craniofacial, dermal defects. Of these individuals, ~50% present allergic disease. Here, we report detailed laboratory workup one most...
Newborn screening for severe combined immunodeficiency (SCID) has not only accelerated diagnosis and improved treatment affected infants, but also led to identification of novel genes required human T cell development. A male proband had SCID newborn showing very low receptor excision circles (TRECs), a biomarker thymic output nascent cells. He persistent profound lymphopenia, normal numbers B natural killer (NK) Despite an allogeneic hematopoietic stem transplant from his brother, he failed...