Associated Papers
Mutation screening of γ-crystallin gene in congenital cataract patients from North India.
Fatima AE et al.
Indian Journal of Ophthalmology, 2026
Effect of mutations on the folding and stability of γD-crystallin protein.
Ghosh D et al.
Journal of Biomolecular Structure & Dynamics, 2024
Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2020
Temperature-Dependent Interactions Explain Normal and Inverted Solubility in a γD-Crystallin Mutant.
Khan AR et al.
Biophysical Journal, 2019
A Combined NMR and SAXS Analysis of the Partially Folded Cataract-Associated V75D γD-Crystallin.
Whitley MJ et al.
Biophysical Journal, 2017
Expression of Cataract-linked γ-Crystallin Variants in Zebrafish Reveals a Proteostasis Network That Senses Protein Stability.
Wu SY et al.
The Journal of Biological Chemistry, 2016
Aggregation of Trp > Glu point mutants of human gamma-D crystallin provides a model for hereditary or UV-induced cataract.
Serebryany E et al.
Protein Science : a Publication of the Protein Society, 2016
Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.
Yang G et al.
Scientific Reports, 2016
A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.
Zhuang X et al.
Plos One, 2015
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.
Zhai Y et al.
International Journal of Medical Sciences, 2014
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
Increasing βB1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R.
Wang S et al.
Biochimica Et Biophysica Acta, 2013
sHSP in the eye lens: crystallin mutations, cataract and proteostasis.
Clark AR et al.
The International Journal of Biochemistry & Cell Biology, 2012
Structural and biochemical characterization of the childhood cataract-associated R76S mutant of human γD-crystallin.
Ji F et al.
Biochemistry, 2012
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
A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families.
Yang G et al.
Molecular Vision, 2011
A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family.
Wang L et al.
Molecular Vision, 2011
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
Kumar M et al.
Molecular Vision, 2011
The congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregation.
Zhang W et al.
Plos One, 2011
Structural and aggregation behavior of the human γD-crystallin mutant E107A, associated with congenital nuclear cataract.
Vendra VP et al.
Molecular Vision, 2010
A novel human CRYGD mutation in a juvenile autosomal dominant cataract.
Roshan M et al.
Molecular Vision, 2010
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.
Zhang LY et al.
Molecular Vision, 2009
Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
Hansen L et al.
Molecular Vision, 2007
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2007
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.
Plotnikova OV et al.
American Journal of Human Genetics, 2007
Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene.
Messina-Baas OM et al.
Molecular Vision, 2006
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0