Associated Papers
Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A.
Ma S et al.
Frontiers in Medicine, 2025
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
A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea.
Zhou Z et al.
Ophthalmology Science, 2022
The genetic landscape of crystallins in congenital cataract.
Berry V et al.
Orphanet Journal of Rare Diseases, 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
Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.
Zhong Z et al.
Scientific Reports, 2017
Real-time heterogeneous protein-protein interaction between αA-crystallin N-terminal mutants and αB-crystallin using quartz crystal microbalance (QCM).
Ramkumar S et al.
Amino Acids, 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 CRYGC gene mutation associated with autosomal dominant pulverulent cataract.
González-Huerta LM et al.
Gene, 2013
A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.
Vanita V et al.
Molecular and Cellular Biochemistry, 2012
A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
Li XQ et al.
Human Mutation, 2012
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.
Guo Y et al.
Molecular Vision, 2012
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
Kumar M et al.
Molecular Vision, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.
Zhang L et al.
Molecular Vision, 2009
Protein-protein interactions involving congenital cataract T5P gammaC-crystallin mutant: a confocal fluorescence microscopy study.
Liu BF et al.
Experimental Eye Research, 2008
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Yao K et al.
Molecular Vision, 2008
A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity.
Gonzalez-Huerta LM et al.
Molecular Vision, 2007
Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy.
Andley UP
Expert Reviews in Molecular Medicine, 2006
Fluorescence resonance energy transfer study of subunit exchange in human lens crystallins and congenital cataract crystallin mutants.
Liang JJ et al.
Protein Science : a Publication of the Protein Society, 2006
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.
Liu Y et al.
Investigative Ophthalmology & Visual Science, 2006
Lenticular chaperones suppress the aggregation of the cataract-causing mutant T5P gamma C-crystallin.
Pigaga V et al.
Experimental Cell Research, 2006
Interdomain side-chain interactions in human gammaD crystallin influencing folding and stability.
Flaugh SL et al.
Protein Science : a Publication of the Protein Society, 2005
CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.
Zenteno JC et al.
Molecular Vision, 2005
Genetic disorders involving molecular-chaperone genes: a perspective.
Macario AJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
Nandrot E et al.
Journal of Medical Genetics, 2003
Alteration of protein-protein interactions of congenital cataract crystallin mutants.
Fu L et al.
Investigative Ophthalmology & Visual Science, 2003
Unfolding of human lens recombinant betaB2- and gammaC-crystallins.
Fu L et al.
Journal of Structural Biology, 2002
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
Santhiya ST et al.
Journal of Medical Genetics, 2002
Conformational change and destabilization of cataract gammaC-crystallin T5P mutant.
Fu L et al.
Febs Letters, 2002
Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay.
Fu L et al.
The Journal of Biological Chemistry, 2002
The gamma-crystallins and human cataracts: a puzzle made clearer.
Héon E et al.
American Journal of Human Genetics, 1999
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0