Associated Papers
Detection Rate of Cataract-Related Gene Variants in Sporadic Childhood Cataract Patients in Southern China.
Luo Z et al.
American Journal of Ophthalmology, 2025
Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.
Delas F et al.
Biomedicines, 2025
Influence of Cataract Causing Mutations on αA-Crystallin: A Computational Approach.
Abrol K et al.
The Protein Journal, 2024
β-Sheet Assembly Translates Conservative Single-Site Mutation into a Perturbation in Macroscopic Structure.
Zhang W et al.
Nano Letters, 2023
Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.
Rossen JL et al.
Genes, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
The genetic landscape of crystallins in congenital cataract.
Berry V et al.
Orphanet Journal of Rare Diseases, 2020
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
Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family.
Liu Q et al.
Bioscience Reports, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Mutation profiles of congenital cataract genes in 21 northern Chinese families.
Zhang XH et al.
Molecular Vision, 2018
Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.
Li L 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
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.
Javadiyan S et al.
Bmc Research Notes, 2016
Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.
Andley UP et al.
Biochimica Et Biophysica Acta, 2016
Differential role of arginine mutations on the structure and functions of α-crystallin.
Panda AK et al.
Biochimica Et Biophysica Acta, 2016
Mutation analysis of two families with inherited congenital cataracts.
Liang C et al.
Molecular Medicine Reports, 2015
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
A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract.
Kong XD et al.
Genetics and Molecular Research : Gmr, 2015
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.
Yang Z et al.
Current Eye Research, 2013
Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.
Laurie KJ et al.
Human Mutation, 2013
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
Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene.
Wang B et al.
Ophthalmic Genetics, 2012
Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin.
Kore R et al.
Molecular and Cellular Biochemistry, 2012
Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin.
Raju I et al.
Plos One, 2012
The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallin.
Xu J et al.
Plos One, 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
Clinical and experimental advances in congenital and paediatric cataracts.
Churchill A et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011
Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
Zhang L et al.
Molecular Vision, 2011
Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.
Raju I et al.
Plos One, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Autosomal dominant congenital nuclear cataracts caused by a CRYAA gene mutation.
Li FF et al.
Current Eye Research, 2010
Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability.
Pang M et al.
Biochimica Et Biophysica Acta, 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
AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.
Andley UP
Bmc Ophthalmology, 2009
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2009