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Article

The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities.

The Journal of biological chemistry - 7 Aug 1998

Amendt B A, Sutherland L B, Semina E V, Russo A F

Abstract excerpt

Rieger syndrome is an autosomal-dominant developmental disorder that includes glaucoma and mild craniofacial dysmorphism in humans. Mutations in the Pitx2 homeobox gene have been linked to Rieger syndrome. We have characterized wild type and mutant Pitx2 activities using electrophoretic mobility shift assays, protein binding, and transient transfection assays. Pitx2 preferentially binds the bicoid homeodomain...

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Identifiers

PMID: 9685346
DOI: 10.1074/jbc.273.32.20066

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities.PMID 9685346Read ↗

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Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Nuclear factor 1 and T-cell factor/LEF recognition elements regulate Pitx2 transcription in pituitary development.Semantic proximity Read ↗

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