Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld-Rieger syndrome.
Gong X et al.
Scientific 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
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
Wang R et al.
Bmc Medical Genomics, 2021
FOXC1 variant in a family with anterior segment dysgenesis and normal-tension glaucoma.
Or L et al.
Experimental Eye Research, 2020
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
Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.
Medina-Trillo C et al.
European Journal of Human Genetics : Ejhg, 2016
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
Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.
Medina-Trillo C et al.
Plos One, 2015
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Z et al.
European Journal of Human Genetics : Ejhg, 2009
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
Molecular genetics of Axenfeld-Rieger malformations.
Lines MA et al.
Human Molecular Genetics, 2002
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
Kawase C et al.
Journal of Glaucoma, 2001
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.
Priston M et al.
Human Molecular Genetics, 2001
Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1.
Saleem RA et al.
American Journal of Human Genetics, 2001
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
Nishimura DY et al.
Nature Genetics, 1998