[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 …

[HTML][HTML] Connective tissue growth factor causes glaucoma by modifying the actin cytoskeleton of the trabecular meshwork

B Junglas, S Kuespert, AA Seleem, T Struller… - The American journal of …, 2012 - Elsevier
The most critical risk factor for optic nerve damage in cases of primary open-angle glaucoma
(POAG) is an increased intraocular pressure (IOP) caused by a resistance to aqueous …

Increased stiffness and flow resistance of the inner wall of Schlemm's canal in glaucomatous human eyes

A Vahabikashi, A Gelman, B Dong… - Proceedings of the …, 2019 - National Acad Sciences
The cause of the elevated outflow resistance and consequent ocular hypertension
characteristic of glaucoma is unknown. To investigate possible causes for this flow …

Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects

CY Gregory-Evans, X Wang, KM Wasan… - The Journal of …, 2013 - Am Soc Clin Investig
Aniridia is a congenital and progressive panocular condition with poor visual prognosis that
is associated with brain, olfactory, and pancreatic abnormalities. Development of aniridia is …

[HTML][HTML] Future directions in managing aniridia-associated keratopathy

AJH Van Velthoven, TP Utheim, M Notara… - Survey of …, 2023 - Elsevier
Congenital aniridia is a panocular disorder that is typically characterized by iris hypoplasia
and aniridia-associated keratopathy (AAK). AAK results in the progressive loss of corneal …

Pancreas-enriched miRNA refines endocrine cell differentiation

S Kredo-Russo, AD Mandelbaum, A Ness… - …, 2012 - journals.biologists.com
Genome-encoded microRNAs (miRNAs) provide a post-transcriptional regulatory layer that
is important for pancreas development. However, how specific miRNAs are intertwined into …

[HTML][HTML] Consensus recommendation for mouse models of ocular hypertension to study aqueous humor outflow and its mechanisms

CM McDowell, K Kizhatil, MH Elliott… - … & visual science, 2022 - iovs.arvojournals.org
Due to their similarities in anatomy, physiology, and pharmacology to humans, mice are a
valuable model system to study the generation and mechanisms modulating conventional …

Using genetic mouse models to gain insight into glaucoma: Past results and future possibilities

KA Fernandes, JM Harder, PA Williams… - Experimental eye …, 2015 - Elsevier
While all forms of glaucoma are characterized by a specific pattern of retinal ganglion cell
death, they are clinically divided into several distinct subclasses, including normal tension …

The Gene Regulatory Network of Lens Induction Is Wired through Meis-Dependent Shadow Enhancers of Pax6

B Antosova, J Smolikova, L Klimova, J Lachova… - PLoS …, 2016 - journals.plos.org
Lens induction is a classical developmental model allowing investigation of cell
specification, spatiotemporal control of gene expression, as well as how transcription factors …