[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 …

Pax6: a multi-level regulator of ocular development

O Shaham, Y Menuchin, C Farhy… - Progress in retinal and …, 2012 - Elsevier
Eye development has been a paradigm for the study of organogenesis, from the
demonstration of lens induction through epithelial tissue morphogenesis, to neuronal …

[HTML][HTML] 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 …

Tracing the fate of limbal epithelial progenitor cells in the murine cornea

N Di Girolamo, S Bobba, V Raviraj, NC Delic… - Stem …, 2015 - academic.oup.com
Stem cell (SC) division, deployment, and differentiation are processes that contribute to
corneal epithelial renewal. Until now studying the destiny of these cells in a living mammal …

Dysfunction of the limbal epithelial stem cell niche in aniridia-associated keratopathy

U Schlötzer-Schrehardt, L Latta, A Gießl, M Zenkel… - The Ocular Surface, 2021 - Elsevier
Purpose Abnormalities in the limbal niche microenvironment have been suggested to be
causally involved in aniridia-associated keratopathy (AAK), but histological analyses on the …

[HTML][HTML] Efficacy of postnatal in vivo nonsense suppression therapy in a Pax6 mouse model of aniridia

X Wang, K Gregory-Evans, KM Wasan, O Sivak… - … Therapy-Nucleic Acids, 2017 - cell.com
Nonsense mutations leading to premature stop codons are common occurring in
approximately 12% of all human genetic diseases. Thus, pharmacological nonsense …

[HTML][HTML] PAX6 Expression Patterns in the Adult Human Limbal Stem Cell Niche

N Polisetti, G Schlunck, T Reinhard - Cells, 2023 - mdpi.com
Paired box 6 (PAX6), a nuclear transcription factor, determines the fate of limbal epithelial
progenitor cells (LEPC) and maintains epithelial cell identity. However, the expression of …

[HTML][HTML] Multiple roles of Pax6 in postnatal cornea development

SS Sunny, J Lachova, N Dupacova, Z Kozmik - Developmental Biology, 2022 - Elsevier
Mammalian corneal development is a multistep process, including formation of the corneal
epithelium (CE), endothelium and stroma during embryogenesis, followed by postnatal …

Stem cells and corneal epithelial maintenance: insights from the mouse and other animal models

RL Mort, P Douvaras, SD Morley, N Dorà… - … : From Oocyte to Stem …, 2012 - Springer
Maintenance of the corneal epithelium is essential for vision and is a dynamic process
incorporating constant cell production, movement and loss. Although cell-based therapies …

[HTML][HTML] Characterization of slow cycling corneal limbal epithelial cells identifies putative stem cell markers

R Sartaj, C Zhang, P Wan, Z Pasha, V Guaiquil… - Scientific Reports, 2017 - nature.com
In order to identify reliable markers of corneal epithelial stem cells, we employed an
inducible transgenic “pulse-chase” murine model (K5Tta× TRE-H2BGFP) to localize, purify …