Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B
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
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
Wang R et al.
Bmc Medical Genomics, 2021
34809627 (PubMed )
Supplement: 12920_2021_1130_MOESM1_ESM.xlsx › ARS
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
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 diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld-Rieger syndrome patient with small cornea: a case report.
Ma Y et al.
Bmc Ophthalmology, 2020
Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.
Ma AS et al.
Human Genetics, 2019
Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.
Hernández-Martínez N et al.
Ophthalmic Genetics, 2018
FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.
Ovaert C et al.
American Journal of Medical Genetics. Part A, 2017
Primary congenital and developmental glaucomas.
Lewis CJ et al.
Human Molecular Genetics, 2017
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 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
Select a paper to view details