Associated Papers
In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.
Vetriselvan Y et al.
Biochemical Genetics, 2025
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
Seifi M et al.
Plos One, 2018
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
Hijikata A et al.
Scientific Reports, 2017
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
Paired-like homeodomain transcription factors 1 and 2 regulate follicle-stimulating hormone beta-subunit transcription through a conserved cis-element.
Lamba P et al.
Endocrinology, 2008
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.
Li D et al.
Molecular Vision, 2008
Functional analysis of human mutations in homeodomain transcription factor PITX3.
Sakazume S et al.
Bmc Molecular Biology, 2007
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
Weisschuh N et al.
Investigative Ophthalmology & Visual Science, 2006
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
Saadi I et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
Current molecular understanding of Axenfeld-Rieger syndrome.
Hjalt TA et al.
Expert Reviews in Molecular Medicine, 2005
PITX2 gain-of-function in Rieger syndrome eye model.
Holmberg J et al.
The American Journal of Pathology, 2004
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
A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome.
Espinoza HM et al.
Human Molecular Genetics, 2002
Identification of a dominant negative homeodomain mutation in Rieger syndrome.
Saadi I et al.
The Journal of Biological Chemistry, 2001
Rieger syndrome: a clinical, molecular, and biochemical analysis.
Amendt BA et al.
Cellular and Molecular Life Sciences : Cmls, 2000