Associated Papers
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
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL et al.
Bmj Open Ophthalmology, 2022
Structural analysis of missense mutations occurring in the DNA-binding domain of HSF4 associated with congenital cataracts.
Xiao Z et al.
Journal of Structural Biology: X, 2020
GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells.
Li L et al.
Scientific Reports, 2019
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.
Jiao X et al.
Plos One, 2019
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.
Berry V et al.
Eye (london, England), 2018
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
Anand D et al.
Human Mutation, 2018
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