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
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Garza Flores A et al.
Frontiers in 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
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
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
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
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2013
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