Axenfeld-rieger Syndrome
Researchers' work from University of Alberta focuses on axenfeld-rieger syndrome
Published in Genetics and Environmental Business Week, July 30th, 2009
Researchers in Edmonton, Canada conducted a study "To assess the effects of previously uncharacterized PITX2 missense mutations found in patients with Axenfeld-Rieger syndrome and to determine the functional roles of the C-terminal region of PITX2. Recombinant PITX2 proteins were analyzed with the use of cellular immunofluorescence, electrophoretic mobility shift, reporter transactivation, and protein half-life assays in human trabecular meshwork cells."
"Two homeobox mutations, R43W and R90C, resulted in severely reduced DNA-binding and transcriptional activation despite normal nuclear localization. L105V, located C-terminal to the homeodomain, resulted in normal...
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