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
Influence of Cataract Causing Mutations on αA-Crystallin: A Computational Approach.
Abrol K et al.
The Protein Journal, 2024
Through the Cat-Map Gateway: A Brief History of Cataract Genetics.
Shiels A
Genes, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
Investigating the role of double mutations R12C/P20R, and R12C/R69C on structure, chaperone-like activity, and amyloidogenic properties of human αB-crystallin.
Khaleghinejad SH et al.
International Journal of Biological Macromolecules, 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
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F et al.
Genome Medicine, 2022
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL et al.
Bmj Open Ophthalmology, 2022
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
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
Taylan Şekeroğlu H et al.
Turkish Journal of Ophthalmology, 2021
Development of a potent embryonic chick lens model for studying congenital cataracts in vivo.
Li Z et al.
Communications Biology, 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
Effect of cataract-associated mutations in the N-terminal domain of αB-crystallin (HspB5).
Muranova LK et al.
Experimental Eye Research, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family.
Liu Q et al.
Bioscience Reports, 2020
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.
Sun M et al.
Human Mutation, 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
Importance of the positively charged residue at position 54 to the chaperoning function, conformational stability and amyloidogenic nature of human αA-crystallin.
Khoshaman K et al.
Journal of Biochemistry, 2018
Mutation profiles of congenital cataract genes in 21 northern Chinese families.
Zhang XH et al.
Molecular Vision, 2018
New cataract markers: Mechanisms of disease.
Zhu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
Sun Z et al.
Molecular Vision, 2017
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.
Musleh M et al.
Eye (london, England), 2016
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.
Javadiyan S et al.
Bmc Research Notes, 2016
Differential role of arginine mutations on the structure and functions of α-crystallin.
Panda AK et al.
Biochimica Et Biophysica Acta, 2016
The impact of Hydrogen peroxide on structure, stability and functional properties of Human R12C mutant αA-crystallin: The imperative insights into pathomechanism of the associated congenital cataract incidence.
Khoshaman K et al.
Free Radical Biology & Medicine, 2015
Mutation analysis of two families with inherited congenital cataracts.
Liang C et al.
Molecular Medicine Reports, 2015
Real-time heterogeneous protein-protein interaction between αA-crystallin N-terminal mutants and αB-crystallin using quartz crystal microbalance (QCM).
Ramkumar S et al.
Amino Acids, 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
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Jiao X et al.
Plos One, 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
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
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 and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.
Su D et al.
Plos One, 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
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
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