[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 …

Modeling post-implantation stages of human development into early organogenesis with stem-cell-derived peri-gastruloids

L Liu, S Oura, Z Markham, JN Hamilton, RM Skory, L Li… - Cell, 2023 - cell.com
In vitro stem cell models that replicate human gastrulation have been generated, but they
lack the essential extraembryonic cells needed for embryonic development, morphogenesis …

[HTML][HTML] Report on the 2021 Aniridia North America symposium on PAX6, aniridia, and beyond

RM Grainger, JD Lauderdale, JL Collins, KL Trout… - The Ocular Surface, 2023 - Elsevier
Abstract The inaugural Aniridia North America (ANA) Symposium was held on the first
weekend in November 2021 in Charlottesville, VA, at the University of Virginia. The purpose …

One-stop assembly of adherent 3D retinal organoids from hiPSCs based on 3D-printed derived PDMS microwell platform

X Sun, Z Cui, Y Liang, C Duan, HF Chan, S Mao… - …, 2023 - iopscience.iop.org
Abstract The three-dimensional (3D) retinal organoids (ROs) derived from human induced
pluripotent stem cells (hiPSCs), mimicking the growth and development of the human retina …

NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development

NK Mullin, LR Bohrer, AP Voigt… - The Journal of …, 2024 - Am Soc Clin Investig
While dysfunction and death of light-detecting photoreceptor cells underlie most inherited
retinal dystrophies, knowledge of the species-specific details of human rod and cone …

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 …

Lactate-dependent transcriptional regulation controls mammalian eye morphogenesis

N Takata, JM Miska, MA Morgan, P Patel… - Nature …, 2023 - nature.com
Mammalian retinal metabolism favors aerobic glycolysis. However, the role of glycolytic
metabolism in retinal morphogenesis remains unknown. We report that aerobic glycolysis is …

Generation of lens progenitor cells and lentoid bodies from pluripotent stem cells: Novel tools for human lens development and ocular disease etiology

A Cvekl, MJ Camerino - Cells, 2022 - mdpi.com
In vitro differentiation of human pluripotent stem cells (hPSCs) into specialized tissues and
organs represents a powerful approach to gain insight into those cellular and molecular …

Roles of histone acetyltransferases and deacetylases in the retinal development and diseases

J Wang, S Feng, Q Zhang, H Qin, C Xu, X Fu… - Molecular …, 2023 - Springer
The critical role of epigenetic modification of histones in maintaining the normal function of
the nervous system has attracted increasing attention. Among these modifications, the level …

Role of UPF1-LIN28A interaction during early differentiation of pluripotent stem cells

S Jung, SH Ko, N Ahn, J Lee, CH Park… - Nature …, 2024 - nature.com
Abstract UPF1 and LIN28A are RNA-binding proteins involved in post-transcriptional
regulation and stem cell differentiation. Most studies on UPF1 and LIN28A have focused on …