Associated Papers
Influence of Cataract Causing Mutations on αA-Crystallin: A Computational Approach.
Abrol K et al.
The Protein Journal, 2024
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
Association of single nucleotide polymorphism variations in CRYAA and CRYAB genes with congenital cataract in Pakistani population.
Jarwar P et al.
Saudi Journal of Biological Sciences, 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
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
A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.
Rao Y et al.
Molecular Vision, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.
Andley UP et al.
Biochimica Et Biophysica Acta, 2016
Regulation of αA- and αB-crystallins via phosphorylation in cellular homeostasis.
Thornell E et al.
Cellular and Molecular Life Sciences : Cmls, 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
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
A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.
Yang Z et al.
Current Eye Research, 2013
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Reis LM et al.
Human Genetics, 2013
Mutations of small heat shock proteins and human congenital diseases.
Datskevich PN et al.
Biochemistry. Biokhimiia, 2012
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
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
Association of G>A transition in exon-1 of alpha crystallin gene in age-related cataracts.
Bhagyalaxmi SG et al.
Oman Journal of Ophthalmology, 2010
Trimethylamine N-oxide alleviates the severe aggregation and ER stress caused by G98R alphaA-crystallin.
Gong B et al.
Molecular Vision, 2009
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
Functions of the intermediate filament cytoskeleton in the eye lens.
Song S et al.
The Journal of Clinical Investigation, 2009
An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.
Zhang LY et al.
Molecular Vision, 2009
Modulation of alpha-crystallin chaperone activity: a target to prevent or delay cataract?
Kumar PA et al.
Iubmb Life, 2009
Genetics of crystallins: cataract and beyond.
Graw J
Experimental Eye Research, 2009
Crystallin gene mutations in Indian families with inherited pediatric cataract.
Devi RR et al.
Molecular Vision, 2008
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
Gu F et al.
Human Mutation, 2008
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
Richter L et al.
American Journal of Medical Genetics. Part A, 2008
An identical alphaA-crystallin mutation (R54C) leads to recessive cataracts in humans and mice.
Gong X
American Journal of Ophthalmology, 2008
Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).
Khan AO et al.
American Journal of Ophthalmology, 2007
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
Cohen D et al.
Investigative Ophthalmology & Visual Science, 2007
Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy.
Andley UP
Expert Reviews in Molecular Medicine, 2006
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.
Liu Y et al.
Investigative Ophthalmology & Visual Science, 2006
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
Forshew T et al.
Human Genetics, 2005
Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
Santhiya ST et al.
Investigative Ophthalmology & Visual Science, 2004
Congenital hereditary cataracts.
Graw J
The International Journal of Developmental Biology, 2004
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
Mackay DS et al.
European Journal of Human Genetics : Ejhg, 2003
Molecular genetics of cataract.
Hejtmancik JF et al.
Developments in Ophthalmology, 2003
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.
Berry V et al.
American Journal of Human Genetics, 2001
A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
Pras E et al.
Investigative Ophthalmology & Visual Science, 2000
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
Further genetic heterogeneity for autosomal dominant human sutural cataracts.
Klopp N et al.
Ophthalmic Research, 0
Molecular genetic basis of inherited cataract and associated phenotypes.
Reddy MA et al.
Survey of Ophthalmology, 0