Associated Papers
In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.
Vetriselvan Y et al.
Biochemical Genetics, 2025
Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.
Tian Y et al.
Ophthalmic Genetics, 2024
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Wang X et al.
Current Eye Research, 2018
PITX2 deficiency and associated human disease: insights from the zebrafish model.
Hendee KE et al.
Human Molecular Genetics, 2018
Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
Seifi M et al.
Plos One, 2018
Inactivation of PITX2 transcription factor induced apoptosis of gonadotroph tumoral cells.
Acunzo J et al.
Endocrinology, 2011
Human PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells.
Acharya M et al.
The Journal of Biological Chemistry, 2009
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Z et al.
European Journal of Human Genetics : Ejhg, 2009
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.
Li D et al.
Molecular Vision, 2008
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
Weisschuh N et al.
Investigative Ophthalmology & Visual Science, 2006
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome.
Saadi I et al.
Molecular and Cellular Biology, 2003
Regulation of prolactin, GH, and Pit-1 gene expression in anterior pituitary by Pitx2: An approach using Pitx2 mutants.
Quentien MH et al.
Endocrinology, 2002
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002
Rieger syndrome: a clinical, molecular, and biochemical analysis.
Amendt BA et al.
Cellular and Molecular Life Sciences : Cmls, 2000
Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.
Banerjee-Basu S et al.
Human Mutation, 1999