Associated Papers
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
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
Crystalline gene mutations in Turkish children with congenital cataracts.
Karahan M et al.
International Ophthalmology, 2021
Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family.
Liu Q et al.
Bioscience Reports, 2020
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
Correlations of single nucleotide polymorphisms of CRYAA and CRYAB genes with the risk and clinicopathological features of children suffering from congenital cataract.
Cui XJ et al.
Medicine, 2017
The impact of different mutations at Arg54 on structure, chaperone-like activity and oligomerization state of human αA-crystallin: The pathomechanism underlying congenital cataract-causing mutations R54L, R54P and R54C.
Khoshaman K et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2017
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
Human Genetics, 2017
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.
Javadiyan S et al.
Bmc Research Notes, 2016
A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.
Yang Z et al.
Current Eye Research, 2013
A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.
Su D et al.
Molecular Vision, 2012
Select a paper to view details