Associated Papers
Influence of Cataract Causing Mutations on αA-Crystallin: A Computational Approach.
Abrol K et al.
The Protein Journal, 2024
The E156K mutation in the CRYAA gene affects the epithelial-mesenchymal transition and migration of human lens epithelial cells.
Zhao Z et al.
Heliyon, 2024
Redox Regulation in Age-Related Cataracts: Roles for Glutathione, Vitamin C, and the NRF2 Signaling Pathway.
Bejarano E et al.
Nutrients, 2023
Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract.
Zhao Z et al.
Ophthalmic Genetics, 2023
Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins.
Budnar P et al.
Biochemistry. Biokhimiia, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Structural and functional analysis of SNP rs76740365 G>A in exon-3 of the alpha A-crystallin gene in lens epithelial cells.
Zhao Z et al.
Molecular Vision, 2022
Inherited cataracts: Genetic mechanisms and pathways new and old.
Shiels A et al.
Experimental Eye Research, 2021
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Marakhonov AV et al.
Orphanet Journal of Rare Diseases, 2020
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A et al.
Annual Review of Vision Science, 2019
Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.
Ma X et al.
Scientific Reports, 2017
Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.
Patel R et al.
Molecular Syndromology, 2017
Mutations and mechanisms in congenital and age-related cataracts.
Shiels A et al.
Experimental Eye Research, 2017
Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter.
Ma X et al.
Scientific Reports, 2016
Interaction of αA-crystallin F71L mutant with wild type αA- and αB-crystallins by mammalian two hybrid assay.
Ramkumar S et al.
International Journal of Biological Macromolecules, 2015
Mutations of small heat shock proteins and human congenital diseases.
Datskevich PN et al.
Biochemistry. Biokhimiia, 2012
The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies.
Boncoraglio A et al.
The International Journal of Biochemistry & Cell Biology, 2012
Temperature-dependent structural and functional properties of a mutant (F71L) αA-crystallin: molecular basis for early onset of age-related cataract.
Validandi V et al.
Febs Letters, 2011
First mutation in the βA2-crystallin encoding gene is associated with small lenses and age-related cataracts.
Puk O et al.
Investigative Ophthalmology & Visual Science, 2011
Association between gap junction protein-alpha 8 polymorphisms and age-related cataract.
Liu Y et al.
Molecular Biology Reports, 2011
Importance of eye lens α-crystallin heteropolymer with 3:1 αA to αB ratio: stability, aggregation, and modifications.
Srinivas P et al.
Iubmb Life, 2010
A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract.
Bhagyalaxmi SG et al.
Biochimica Et Biophysica Acta, 2009