Investigating a human model for Kabuki Syndrome
| dc.contributor.advisor | Kasri, Nael | |
| dc.contributor.author | Bechet, Nic | |
| dc.date.issued | 2017-07-01 | |
| dc.description.abstract | Human-induced pluripotent stem cells (hiPSC’s) represent an opportunity to model human diseases in vitro using patient specific tissue and allow for the extraction of personalized data points. Here we modeled a multiple congenital anomaly syndrome characterized by mild intellectual disability, known as Kabuki Syndrome (KS). Both KS and control hiPSC cohorts were differentiated to cortical neurons, and although no morphological differences could be detected via fluorescence imaging and neuronal reconstruction, KS neurons were found to organize and form neuronal networks more rapidly than controls, exhibiting longer duration network bursts, characterized by compound peaks of mini-bursts. These electrophysiological differences represent the in vitro phenotype of KS and as such offer promising future potential with regards to better understanding the molecular mechanisms behind KS and for the high throughput testing of novel candidate compounds, furthermore highlighting the feasibility of this system for modeling neurological diseases in vitro. | en_US |
| dc.embargo.lift | 2042-07-01 | |
| dc.embargo.type | Tijdelijk embargo | en_US |
| dc.identifier.uri | https://theses.ubn.ru.nl/handle/123456789/7464 | |
| dc.language.iso | en | en_US |
| dc.thesis.faculty | Faculteit der Sociale Wetenschappen | en_US |
| dc.thesis.specialisation | Researchmaster Cognitive Neuroscience | en_US |
| dc.thesis.studyprogramme | Researchmaster Cognitive Neuroscience | en_US |
| dc.thesis.type | Researchmaster | en_US |
| dc.title | Investigating a human model for Kabuki Syndrome | en_US |