[HTML][HTML] Cell fate decisions, transcription factors and signaling during early retinal development

R Diacou, P Nandigrami, A Fiser, W Liu… - Progress in retinal and …, 2022 - Elsevier
The development of the vertebrate eyes is a complex process starting from anterior-posterior
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …

Regenerating eye tissues to preserve and restore vision

JH Stern, Y Tian, J Funderburgh, G Pellegrini, K Zhang… - Cell stem cell, 2018 - cell.com
Ocular regenerative therapies are on track to revolutionize treatment of numerous blinding
disorders, including corneal disease, cataract, glaucoma, retinitis pigmentosa, and age …

The lens epithelium as a major determinant in the development, maintenance, and regeneration of the crystalline lens

Z Liu, S Huang, Y Zheng, T Zhou, L Hu, L Xiong… - Progress in retinal and …, 2023 - Elsevier
The crystalline lens is a transparent and refractive biconvex structure formed by lens
epithelial cells (LECs) and lens fibers. Lens opacity, also known as cataracts, is the leading …

[HTML][HTML] Congenital aniridia beyond black eyes: from phenotype and novel genetic mechanisms to innovative therapeutic approaches

A Daruich, M Duncan, MP Robert, N Lagali… - Progress in retinal and …, 2023 - Elsevier
Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively
been shown to be associated with other developmental ocular abnormalities and systemic …

Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions

L Latta, FC Figueiredo, R Ashery-Padan, JM Collinson… - The ocular …, 2021 - Elsevier
Aniridia, a rare congenital disease, is often characterized by a progressive, pronounced
limbal insufficiency and ocular surface pathology termed aniridia-associated keratopathy …

Eye organogenesis: a hierarchical view of ocular development

JB Miesfeld, NL Brown - Current topics in developmental biology, 2019 - Elsevier
This chapter provides an overview of the early developmental origins of six ocular tissues:
the cornea, lens, ciliary body, iris, neural retina, and retina pigment epithelium. Many of …

Molecular genetics of congenital cataracts

J Li, X Chen, Y Yan, K Yao - Experimental Eye Research, 2020 - Elsevier
Congenital cataracts, the most common cause of visual impairment and blindness in
children worldwide, have diverse etiologies. According to statistics analysis, about one …

Insights into the biochemical and biophysical mechanisms mediating the longevity of the transparent optics of the eye lens

RA Quinlan, JI Clark - Journal of Biological Chemistry, 2022 - ASBMB
In the human eye, a transparent cornea and lens combine to form the" refracton" to focus
images on the retina. This requires the refracton to have a high refractive index" n," mediated …

Dynamic changes in whole genome DNA methylation, chromatin and gene expression during mouse lens differentiation

W Chang, Y Zhao, D Rayêe, Q Xie, M Suzuki… - Epigenetics & …, 2023 - Springer
Background Cellular differentiation is marked by temporally and spatially coordinated gene
expression regulated at multiple levels. DNA methylation represents a universal mechanism …

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

A Kröll‐Hermi, F Ebstein, C Stoetzel… - EMBO molecular …, 2020 - embopress.org
The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein
homeostasis and to control signalling. Whole‐genome sequencing of patients with severe …