Shiming Chen

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.

The long noncoding RNA Peanut (Gm11454) promotes neurogenesis and rod photoreceptor differentiation during postnatal retinal development.

This study identifies the lncRNA Peanut as promoting rod photoreceptor differentiation and neurogenesis by inhibiting Notch signaling and regulating Tox2 expression in retinal progenitor cells.

Active DNA demethylation is upstream of rod-photoreceptor fate determination and required for retinal development

The paper shows that DNA demethylation, mediated by TET enzymes, is essential for rod-photoreceptor fate determination during retinal development.

Aberrant homeodomain-DNA cooperative dimerization underlies distinct developmental defects in two dominant CRX retinopathy models

This study investigates how mutations in the CRX gene affect cooperative dimerization, leading to developmental defects in photoreceptors and retinal disease.

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.

Integrated multi-omics single cell atlas of the human retina

The paper creates a comprehensive human retina cell atlas using single-cell multi-omics data, revealing over 110 cell types and their gene regulatory networks, and enables fine-mapping of GWAS and eQTL variants.

Cat LCA-CRX model, homozygous for an antimorphic mutation has a unique phenotype

This study describes the ocular phenotype of homozygous CRX-mutant cats, highlighting severe retinal degeneration and unique features compared to heterozygous models.

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.