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Tag Archives: PAX6
PAX6 and the Cornea: An Eye to the Future
One of the speakers at this year’s conference was Thanos Papadimitropoulos from University of Liverpool. He told us about his team’s research, funded by Fight for Sight, into a potential new therapy that may one day be able to slow down or … Continue reading
Cure for aniridia under spotlight
A new study has suggested potential eyedrop therapy for aniridia. Is the hype justified and what are the details? Aniridia is a genetic abnormality caused by mutations in the so-called ‘Master Regulator’ gene for eye development, PAX6. Because PAX6 is … Continue reading
Posted in Medical staff talking, Research
Tagged ataluren, PAX6, ribosome, Sharon Stewart Aniridia Trust
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Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
Purpose: To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia. Methods: A family with autosomal dominant aniridia with three affected individuals in two generations was investigated for the causative PAX6 mutation by single strand conformation polymorphism (SSCP) … Continue reading
