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
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D et al.
Bmc Ophthalmology, 2022
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
A mutated CRYGD associated with congenital coralliform cataracts in two Chinese pedigrees.
Cai SP et al.
International Journal of Ophthalmology, 2021
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
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Thermodynamic Stability of Human γD-Crystallin Mutants Using Alchemical Free-Energy Calculations.
Aguayo-Ortiz R et al.
The Journal of Physical Chemistry. B, 2019
A Combined NMR and SAXS Analysis of the Partially Folded Cataract-Associated V75D γD-Crystallin.
Whitley MJ et al.
Biophysical Journal, 2017
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
An alternative structural isoform in amyloid-like aggregates formed from thermally denatured human γD-crystallin.
Moran SD et al.
Protein Science : a Publication of the Protein Society, 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
Increasing βB1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R.
Wang S et al.
Biochimica Et Biophysica Acta, 2013
Structural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparency.
Vendra VP et al.
Plos One, 2013
Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children.
Mehra S et al.
Journal of Biomarkers, 2013
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
A novel human CRYGD mutation in a juvenile autosomal dominant cataract.
Roshan M et al.
Molecular Vision, 2010
Advancement of congenital cataract in the responsible gene.
Peng L et al.
International Journal of Ophthalmology, 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
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.
Khan AO et al.
Molecular Vision, 2009
The structure of the cataract-causing P23T mutant of human gammaD-crystallin exhibits distinctive local conformational and dynamic changes.
Jung J et al.
Biochemistry, 2009
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
Li F et al.
Molecular Vision, 2008
[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