Chi Sun

Aberrant retinal structure and vasculature in mouse models of dominant retinopathies caused by CRX homeodomain mutations

This study examines retinal and vascular abnormalities in mouse models with CRX homeodomain mutations, finding disrupted photoreceptor differentiation and retinal rosettes that affect inner neuron localization and vasculature.

Preclinical CRX augmentation therapies for CRX-associated autosomal dominant cone-rod dystrophies

This study evaluates two CRX augmentation strategies in mouse models of CRX-associated CoRDs, showing improved cone and rod survival and function.

Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors

The paper examines how different pathogenic variants in the CRX gene affect cis-regulatory elements in photoreceptors, showing overlapping enhancer effects and distinct silencer impacts.

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms

Rho enhancers play unexpectedly minor roles in Rhodopsin transcription and rod cell integrity

The paper investigates the role of Rho gene enhancers and promoter in mice, finding that enhancers are largely dispensable for Rho expression and rod cell function, while the promoter is essential.

Essential functions of MLL1 and MLL2 in retinal development and cone cell maintenance

This study investigates the roles of MLL1 and MLL2 in retinal development and cone cell maintenance using conditional knockout mice, revealing their redundant functions in neuronal maintenance and functional network establishment.