Associated Papers
Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.
Delas F et al.
International Journal of Molecular Sciences, 2023
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Generation of Lens Progenitor Cells and Lentoid Bodies from Pluripotent Stem Cells: Novel Tools for Human Lens Development and Ocular Disease Etiology.
Cvekl A et al.
Cells, 2022
Modeling congenital cataract in vitro using patient-specific induced pluripotent stem cells.
Lyu D et al.
Npj Regenerative Medicine, 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
Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.
Song IK et al.
International Journal of Molecular Sciences, 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
Molecular Mechanism of Aggregation of the Cataract-Related γD-Crystallin W42R Variant from Multiscale Atomistic Simulations.
Wong EK et al.
Biochemistry, 2019
Dissimilarity in the Contributions of the N-Terminal Domain Hydrophobic Core to the Structural Stability of Lens β/γ-Crystallins.
Zhang K et al.
Biochemistry, 2019
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
The importance of the last strand at the C-terminus in βB2-crystallin stability and assembly.
Zhang K et al.
Biochimica Et Biophysica Acta, 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
Structural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparency.
Vendra VP et al.
Plos One, 2013
The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallin.
Xu J 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 CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.
Wang B et al.
Human Mutation, 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