Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell 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
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Spectrum of white matter abnormalities associated with FOXC1-related disorders in two unrelated cases.
Tabassum T et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.
Huang YT et al.
Frontiers in Neurology, 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
A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome.
Wu X et al.
Experimental and Therapeutic Medicine, 2019
Structural basis for DNA recognition by FOXC2.
Chen X et al.
Nucleic Acids Research, 2019
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.
Sollis E et al.
Human Mutation, 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
The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification.
Yoshida M et al.
Nature Communications, 2015
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Z et al.
European Journal of Human Genetics : Ejhg, 2009
The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.
Chakrabarti S et al.
Investigative Ophthalmology & Visual Science, 2009
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.
Fuse N et al.
Molecular Vision, 2007
Intracellular distribution of a speech/language disorder associated FOXP2 mutant.
Mizutani A et al.
Biochemical and Biophysical Research Communications, 2007
Functional genetic analysis of mutations implicated in a human speech and language disorder.
Vernes SC et al.
Human Molecular Genetics, 2006
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
Weisschuh N et al.
Investigative Ophthalmology & Visual Science, 2006
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
The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis.
Berry FB et al.
Human Molecular Genetics, 2005
Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.
Sholto-Douglas-Vernon C et al.
Human Genetics, 2005
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.
MacDermot KD et al.
American Journal of Human Genetics, 2005
FOXP2 and the neuroanatomy of speech and language.
Vargha-Khadem F et al.
Nature Reviews. Neuroscience, 2005
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
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
Kawase C et al.
Journal of Glaucoma, 2001