Associated Papers
Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.
Guo D et al.
Progress in Retinal and Eye Research, 2025
Human γS-Crystallin Mutation F10_Y11delinsLN in the First Greek Key Pair Destabilizes and Impairs Tight Packing Causing Cortical Lamellar Cataract.
Vendra VPR et al.
International Journal of Molecular Sciences, 2023
Crystalline gene mutations in Turkish children with congenital cataracts.
Karahan M et al.
International Ophthalmology, 2021
Human γS-Crystallin-Copper Binding Helps Buffer against Aggregation Caused by Oxidative Damage.
Roskamp KW et al.
Biochemistry, 2020
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
Human αB-crystallin discriminates between aggregation-prone and function-preserving variants of a client protein.
Sprague-Piercy MA et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Conformational dynamics study on human γS-crystallin as an efficient route to childhood blindness.
Bari KJ et al.
Biochemical and Biophysical Research Communications, 2019
A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family.
Zhang T et al.
Gene, 2018
Sequence specific 1H, 13C and 15N resonance assignments of a cataract-related variant G57W of human γS-crystallin.
Bari KJ et al.
Biomolecular Nmr Assignments, 2018
Multiple Aggregation Pathways in Human γS-Crystallin and Its Aggregation-Prone G18V Variant.
Roskamp KW et al.
Investigative Ophthalmology & Visual Science, 2017
Gamma crystallins of the human eye lens.
Vendra VP et al.
Biochimica Et Biophysica Acta, 2016
Increased hydrophobic surface exposure in the cataract-related G18V variant of human γS-crystallin.
Khago D et al.
Biochimica Et Biophysica Acta, 2016
Structural study of the G57W mutant of human gamma-S-crystallin, associated with congenital cataract.
Khan I et al.
Molecular Vision, 2016
A G57W Mutation of CRYGS Associated with Autosomal Dominant Pulverulent Cataracts in a Chinese Family.
Yang Z et al.
Ophthalmic Genetics, 2015
Preferential and specific binding of human αB-crystallin to a cataract-related variant of γS-crystallin.
Kingsley CN et al.
Structure (london, England : 1993), 2013
Structural analysis of the mutant protein D26G of human γS-crystallin, associated with Coppock cataract.
Karri S et al.
Molecular Vision, 2013
The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract.
Vendra VP et al.
Plos One, 2012
Mutation analysis of 12 genes in Chinese families with congenital cataracts.
Sun W et al.
Molecular Vision, 2011