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Article

Analysis of Mutations of the<i>PITX2</i>Transcription Factor Found in Patients with Axenfeld-Rieger Syndrome

26 May 2009

Abstract excerpt

PURPOSE: 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. METHODS: Recombinant PITX2 proteins were analyzed with the use of cellular immunofluorescence, electrophoretic mobility shift, reporter transactivation, and protein half-life assays in human trabecular...

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PMID: 19218601
DOI: 10.1167/iovs.08-3251

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