Associated Papers
A Novel Mutation of FOXC1 (P136L) in an Axenfeld-Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.
Yoshino Y et al.
Molecular Genetics & Genomic Medicine, 2024
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
Wang R et al.
Bmc Medical Genomics, 2021
Enhancer recruitment of transcription repressors RUNX1 and TLE3 by mis-expressed FOXC1 blocks differentiation in acute myeloid leukemia.
Simeoni F et al.
Cell Reports, 2021
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.
Carmona S et al.
American Journal of Medical Genetics. Part A, 2017
Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.
Seifi M et al.
Human Mutation, 2017
A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases.
Du RF et al.
Ophthalmic Genetics, 2016
Somatic Mutations of FOXE1 in Papillary Thyroid Cancer.
Mond M et al.
Thyroid : Official Journal of the American Thyroid Association, 2015
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Z et al.
European Journal of Human Genetics : Ejhg, 2009
The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.
Chakrabarti S et al.
Investigative Ophthalmology & Visual Science, 2009
Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells.
Huang L et al.
Investigative Ophthalmology & Visual Science, 2008
Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.
Strungaru MH et al.
Investigative Ophthalmology & Visual Science, 2007
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
Weisschuh N et al.
Investigative Ophthalmology & Visual Science, 2006
The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.
Murphy TC et al.
Investigative Ophthalmology & Visual Science, 2004
Essential structural and functional determinants within the forkhead domain of FOXC1.
Saleem RA et al.
Nucleic Acids Research, 2004