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 spectrum of congenital cataract with optional ocular and multisystem abnormalities.
Zhang H et al.
Bmc Medical Genomics, 2025
Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.
Berry V et al.
Genes, 2025
Influence of Cataract Causing Mutations on αA-Crystallin: A Computational Approach.
Abrol K et al.
The Protein Journal, 2024
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Lecca M et al.
Clinical Genetics, 2024
Through the Cat-Map Gateway: A Brief History of Cataract Genetics.
Shiels A
Genes, 2024
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.
Khidiyatova I et al.
Current Issues in Molecular Biology, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
Post MA et al.
Journal of Inherited Metabolic Disease, 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
Cataract-causing allele in CRYAA (Y118D) proceeds through endoplasmic reticulum stress in mouse model.
Jia ZK et al.
Zoological Research, 2021
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.
Haug P et al.
Genes, 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
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Zhuang J et al.
Molecular Vision, 2019
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family.
Song Z et al.
Bmc Medical Genetics, 2018
Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops).
Magwebu ZE et al.
Journal of Medical Primatology, 2018
Transgenic zebrafish models reveal distinct molecular mechanisms for cataract-linked αA-crystallin mutants.
Wu SY et al.
Plos One, 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
Oligomerization and chaperone-like activity of Drosophila melanogaster small heat shock protein DmHsp27 and three arginine mutants in the alpha-crystallin domain.
Moutaoufik MT et al.
Cell Stress & Chaperones, 2017
Oligomeric structure and chaperone-like activity of Drosophila melanogaster mitochondrial small heat shock protein Hsp22 and arginine mutants in the alpha-crystallin domain.
Dabbaghizadeh A et al.
Cell Stress & Chaperones, 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 in crystallin genes result in congenital cataract associated with other ocular abnormalities.
Sun Z et al.
Molecular Vision, 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
Small Heat Shock Proteins and Distal Hereditary Neuropathies.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2015
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
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
Liao J et al.
Human Molecular Genetics, 2014
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
Identification of proteins that interact with alpha A-crystallin using a human proteome microarray.
Fan Q et al.
Molecular Vision, 2014
A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.
Yang Z et al.
Current Eye Research, 2013
Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.
Nefedova VV et al.
Biochimie, 2013
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.
Nakhro K et al.
Neuromuscular Disorders : Nmd, 2013
Changes in the quaternary structure and function of MjHSP16.5 attributable to deletion of the IXI motif and introduction of the substitution, R107G, in the α-crystallin domain.
Quinlan RA et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2013
Phenotype of cardiomyopathy in cardiac-specific heat shock protein B8 K141N transgenic mouse.
Sanbe A et al.
The Journal of Biological Chemistry, 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
Identification of subunit-subunit interaction sites in αA-WT crystallin and mutant αA-G98R crystallin using isotope-labeled cross-linker and mass spectrometry.
Kannan R et al.
Plos One, 2013
sHSP in the eye lens: crystallin mutations, cataract and proteostasis.
Clark AR et al.
The International Journal of Biochemistry & Cell Biology, 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
Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins.
Carra S et al.
Progress in Neurobiology, 2012