Notch

Variant-specific disruption to SOX2-mediated Notch signalling in PAX6 patient hiPSC optic vesicles
Investigation of the molecular pathology of oculogenesis regulator, PAX6, through patient-derived hiPSC optic vesicles with (i) haploinsufficiency-related aniridia and (ii) missense-associated microphthalmia. Transcriptomic analysis reveals variant-specific disruption to SOX2-mediated Notch-signalling perturbing proliferation and differentiation, uncovering a mechanism for PAX6-associated microphthalmia.
P Harding, Nicholas Owen, J Eintracht, D Lima Cunha, M Moosajee