CORDIS Project
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This project investigates neurodevelopmental disorders linked to mutations in specific genes, focusing on their impact on neuronal development. It aims to create patient-specific mutations in stem cells to study their effects on brain development processes.
Development of the cortex requires intricate orchestration of progenitor self-renewal and neuronal differentiation, subtype specification, migration and integration in neuronal circuits.
Disturbance of any of these processes has been linked to a variety of developmental disorders, including Cornelia de Lange Syndrome (CdLS).
CdLS is highlighted by intellectual disability and seizures and most frequently caused by mutations in the cohesin loading factor NIPBL.
Our previous work showed that Nipbl…
ERASMUS UNIVERSITAIR MEDISCH CENTRUM ROTTERDAM
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