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
Identification and functional study of FOXC1 variants in Chinese families with glaucoma.
Wang X et al.
American Journal of Medical Genetics. Part A, 2022
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
Wang R et al.
Bmc Medical Genomics, 2021
Heterogeneity of Axenfeld-Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients.
Zhang Y et al.
Frontiers in Genetics, 2021
Structural basis for DNA recognition by FOXC2.
Chen X et al.
Nucleic Acids Research, 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
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
FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.
Rasnitsyn A et al.
Plos One, 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
The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification.
Yoshida M et al.
Nature Communications, 2015
Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients.
Ito YA et al.
Cell Death & Disease, 2014
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.
Tonoki H et al.
American Journal of Medical Genetics. Part A, 2011
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Z et al.
European Journal of Human Genetics : Ejhg, 2009
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Aldinger KA et al.
Nature Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.
Chakrabarti S et al.
Investigative Ophthalmology & Visual Science, 2009
FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A.
Berry FB et al.
Human Molecular Genetics, 2008
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.
Berry FB et al.
Human Molecular Genetics, 2006
Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.
Sholto-Douglas-Vernon C et al.
Human Genetics, 2005
Structural analysis of disease-causing mutations in the P-subfamily of forkhead transcription factors.
Banerjee-Basu S et al.
Proteins, 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
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
Kawase C et al.
Journal of Glaucoma, 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
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
Nishimura DY 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