Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
Wang R et al.
Bmc Medical Genomics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Axenfeld-Rieger syndrome-associated mutants of the transcription factor FOXC1 abnormally regulate NKX2-5 in model zebrafish embryos.
Zhang Q et al.
The Journal of Biological Chemistry, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.
Carmona S et al.
American Journal of Medical Genetics. Part A, 2017
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.
Souzeau E et al.
European Journal of Human Genetics : Ejhg, 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 in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations.
Khalil A et al.
Frontiers in Cardiovascular Medicine, 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
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome.
Kim GN et al.
Molecular Vision, 2013
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
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
Structural analysis of disease-causing mutations in the P-subfamily of forkhead transcription factors.
Banerjee-Basu S et al.
Proteins, 2004
Essential structural and functional determinants within the forkhead domain of FOXC1.
Saleem RA et al.
Nucleic Acids Research, 2004
Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.
Saleem RA et al.
Human Molecular Genetics, 2003
Identification and analysis of a novel mutation in the FOXC1 forkhead domain.
Saleem RA et al.
Investigative Ophthalmology & Visual Science, 2003