Associated Papers
Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract.
Dang H et al.
Journal of Ophthalmology, 2023
Generation of Lens Progenitor Cells and Lentoid Bodies from Pluripotent Stem Cells: Novel Tools for Human Lens Development and Ocular Disease Etiology.
Cvekl A et al.
Cells, 2022
Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report.
Zhou L et al.
Bmc Ophthalmology, 2022
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.
Berry V et al.
Eye (london, England), 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Chesneau B et al.
Clinical Genetics, 2022
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.
Wu Z et al.
Molecular Medicine Reports, 2019
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.
Fan Q et al.
Bmc Medical Genetics, 2019
Identification of PITX3 mutations in individuals with various ocular developmental defects.
Zazo Seco C et al.
Ophthalmic Genetics, 2018
Human pituitary homeobox-3 gene in congenital cataract in a Chinese family.
Ye X et al.
International Journal of Clinical and Experimental Medicine, 2015
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
Verdin H et al.
Orphanet Journal of Rare Diseases, 2014
A novel synonymous SNP in PITX3 is associated with Parkinson's disease in Chinese population.
Gui Y et al.
Swiss Medical Weekly, 2012
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
Berry V et al.
Molecular Vision, 2011
MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.
Sorokina EA et al.
Plos One, 2011
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice.
Rosemann M et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Functional analysis of human mutations in homeodomain transcription factor PITX3.
Sakazume S et al.
Bmc Molecular Biology, 2007
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
Bidinost C et al.
Investigative Ophthalmology & Visual Science, 2006
Genetic contributions to Parkinson's disease.
Huang Y et al.
Brain Research. Brain Research Reviews, 2004
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
Semina EV et al.
Nature Genetics, 1998
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
Molecular genetic basis of inherited cataract and associated phenotypes.
Reddy MA et al.
Survey of Ophthalmology, 0
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0