CORDIS Project
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This research focuses on the 22q11.2 deletion syndrome, a genetic condition linked to neurodevelopmental defects. It aims to explore how altered microRNA processing affects brain development and neurogenesis in both mouse models and human stem cells derived from patients.
The 22q11.2 deletion syndrome (22qDS) is the most common hemizygous microdeletion syndrome occurring in humans.
Individuals with 22qDS show also a variety of neuro−anatomical defects.Our central hypothesis is that altered miRNAs biogenesis (caused by the hemizygous deletion of Dgcr8, one of the genes located in the 22q11.2 critical region, and required for miRNAs maturation) might impair embryonal/postnatal brain development, thus causing some of the defects observed in brains of 22qDS patients.…
FONDAZIONE ISTITUTO ITALIANO DI TECNOLOGIA
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