Journal Articles

Axenfeld-Rieger Syndrome Research

Evidence for a cilia component in Axenfeld-Rieger Syndrome

PITs and FOXes in Ocular Genetics The Cogan Lecture

Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld‐rieger disease severity

FOXC1 Research

FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A

Genotype-Phenotype Correlations in Axenfeld-Rieger Malformation and Glaucoma Patients with FOXC1 and PITX2 Mutations

MYOC and FOXC1 gene analysis in primary congenital glaucoma

Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

Contribution of FOXC1 to the development of Axenfeld-Rieger Syndrome and glaucoma

Loss of foxc1 in zebrafish reduces optic nerve size and cell number in the retinal ganglion cell layer

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1

FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain

Current molecular understanding of Axenfeld-Rieger Syndrome

Additional complexities in Axenfeld-Rieger Syndrome – implications for pediatric glaucoma

PITX2 Research

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome

PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld‐Rieger syndrome associated with brain, ocular, and dental phenotypes

Trabecular Meshwork Research

Genome-wide Expression Profiling and Pathway Analysis in Cyclic Stretched Human Trabecular Meshwork Cells

Transplantation of iPSC-TM stimulates division of trabecular meshwork cells in human eyes

Chromosome specific findings

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

Ocular Developmental Abnormalities and Glaucoma Associated with Interstitial 6p25 Duplications and Deletions