Publications by authors named "Naomi Kakiailatu"
The gastrointestinal (GI) tract performs a range of functions essential for life. Congenital defects affecting its development can lead to enteric neuromuscular disorders, highlighting the importance to understand the molecular mechanisms underlying GI development and dysfunction. In this study, we present a method for gut isolation from zebrafish larvae at 5 days post fertilization to obtain live, viable cells which can be used for single-cell RNA sequencing (scRNA-seq) analysis.
View Article and Find Full Text PDFThe enteric nervous system (ENS) regulates many gastrointestinal functions including peristalsis, immune regulation and uptake of nutrients. Defects in the ENS can lead to severe enteric neuropathies such as Hirschsprung disease (HSCR). Zebrafish have proven to be fruitful in the identification of genes involved in ENS development and HSCR pathogenesis.
View Article and Find Full Text PDFArticle Synopsis
- Pediatric Intestinal Pseudo-obstruction (PIPO) is a genetic disorder causing severe gastrointestinal issues without any physical blockage, and many patients lack a clear genetic diagnosis.
- Researchers used whole exome sequencing (WES) to analyze a patient with severe intestinal dysmotility and identified a significant gene variant thought to contribute to the condition.
- Functional studies and a zebrafish model revealed that the gene variant leads to a loss of critical protein, impacting neuronal development in the gut and suggesting a link between this genetic alteration and the symptoms of PIPO.