Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.
Delas F et al.
International Journal of Molecular Sciences, 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
A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.
Li K 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
Axenfeld-Rieger Syndrome: Rare Case Presentation and Overview.
Agarwal P et al.
Journal of Maxillofacial and Oral Surgery, 2020
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
The transcription factor Foxc1a in zebrafish directly regulates expression of nkx2.5, encoding a transcriptional regulator of cardiac progenitor cells.
Yue Y et al.
The Journal of Biological Chemistry, 2018
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.
Carmona S et al.
American Journal of Medical Genetics. Part A, 2017
Transcriptional Network Controlling Endochondral Ossification.
Hata K et al.
Journal of Bone Metabolism, 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 Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.
Yang HJ et al.
Korean Journal of Ophthalmology : Kjo, 2015
The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification.
Yoshida M et al.
Nature Communications, 2015
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2013
Analysis of FOXD3 sequence variation in human ocular disease.
Kloss BA et al.
Molecular Vision, 2012
Genetic association and gene-gene interaction of HAS2, HABP1 and HYAL3 implicate hyaluronan metabolic genes in glaucomatous neurodegeneration.
Basu K et al.
Disease Markers, 2012
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
Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.
Kelberman D et al.
Human Mutation, 2011
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
D'haene B et al.
Investigative Ophthalmology & Visual Science, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family.
Akkus MN et al.
Clinical Dysmorphology, 2010
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Z et al.
European Journal of Human Genetics : Ejhg, 2009
A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.
Berker N et al.
Acta Ophthalmologica, 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
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
Weisschuh N et al.
Clinical Genetics, 2008
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.
Mihelec M et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 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
Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son.
Calcagni G et al.
Clinical Dysmorphology, 2006
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
Weisschuh N et al.
Investigative Ophthalmology & Visual Science, 2006
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
Idrees F et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006
Terminal deletion of 6p results in a recognizable phenotype.
Lin RJ et al.
American Journal of Medical Genetics. Part A, 2005
Genetics of corneal disease for the ocular surface clinician.
Sjoberg SA
The Ocular Surface, 2005
Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family.
van Dijk M et al.
Nature Genetics, 2005
Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.
Maclean K et al.
American Journal of Medical Genetics. Part A, 2005
Autosomal dominant flat umbilicus.
Leung AK et al.
American Journal of Medical Genetics. Part A, 2004
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
The genetic and molecular basis of congenital eye defects.
Graw J
Nature Reviews. Genetics, 2003
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
Honkanen RA et al.
American Journal of Ophthalmology, 2003