Article
Effects of aberrant Pax6 gene dosage on mouse corneal pathophysiology and corneal epithelial homeostasis.
PloS one - 1 Jan 2011
Mort Richard L, Bentley Adam J, Martin Francis L, Collinson J Martin, Douvaras Panagiotis, Hill Robert E, Morley Steven D, Fullwood Nigel J, West John D
Abstract excerpt
BACKGROUND: Altered dosage of the transcription factor PAX6 causes multiple human eye pathophysiologies. PAX6⁺/⁻ heterozygotes suffer from aniridia and aniridia-related keratopathy (ARK), a corneal deterioration that probably involves a limbal epithelial stem cell (LESC) deficiency. Heterozygous Pax6(+/Sey-Neu) (Pax6⁺/⁻) mice recapitulate the human disease and are a good model of ARK. Corneal pathologies also...
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