Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs
Congenital aniridia is a rare, pan-ocular disease causing severe sight loss, with only
symptomatic intervention offered to patients. Approximately 40% of aniridia patients present …
symptomatic intervention offered to patients. Approximately 40% of aniridia patients present …
Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina
The crumbs cell polarity complex plays a crucial role in apical–basal epithelial polarity,
cellular adhesion, and morphogenesis. Homozygous variants in human CRB1 result in …
cellular adhesion, and morphogenesis. Homozygous variants in human CRB1 result in …
Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia
Genetic perturbations influencing early eye development can result in microphthalmia,
anophthalmia, and coloboma (MAC). Over 100 genes are associated with MAC, but little is …
anophthalmia, and coloboma (MAC). Over 100 genes are associated with MAC, but little is …
[HTML][HTML] Efficient embryoid-based method to improve generation of optic vesicles from human induced pluripotent stem cells
Animal models have provided many insights into ocular development and disease, but they
remain suboptimal for understanding human oculogenesis. Eye development requires …
remain suboptimal for understanding human oculogenesis. Eye development requires …
hiPSC-derived epidermal keratinocytes from ichthyosis patients show altered expression of cornification markers
D Lima Cunha, A Oram, R Gruber, R Plank… - International Journal of …, 2021 - mdpi.com
Inherited ichthyoses represent a large heterogeneous group of skin disorders characterised
by impaired epidermal barrier function and disturbed cornification. Current knowledge about …
by impaired epidermal barrier function and disturbed cornification. Current knowledge about …
Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and cone function in retinal organoids
C Mejecase, Y Zhou, N Owen, P Soro-Barrio… - bioRxiv, 2024 - biorxiv.org
Retinal dehydrogenase 12 (RDH12) is a photoreceptor NADPH-dependent retinal
reductase enzyme, converting all-trans-retinal to all-trans-retinol. Heterozygous variants in …
reductase enzyme, converting all-trans-retinal to all-trans-retinol. Heterozygous variants in …
[PDF][PDF] Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs
DM de Lima Cunha, H Sarkar, J Eintracht, P Harding… - 2023 - repository.ubn.ru.nl
Congenital aniridia is a rare, pan-ocular disease causing severe sight loss, with only
symptomatic intervention offered to patients. Approximately 40% of aniridia patients present …
symptomatic intervention offered to patients. Approximately 40% of aniridia patients present …
Patient-specific stem cell-derived optic vesicles reveal novel pathogenic variants and common disease mechanisms in microphthalmia
J Eintracht - 2023 - discovery.ucl.ac.uk
Human eye development is tightly regulated by gene regulatory networks (GRNs) that guide
early eye structures through morphogenetic events from optic vesicle formation to the …
early eye structures through morphogenetic events from optic vesicle formation to the …