Associated Papers
Characterization of βB2-crystallin tryptophan mutants reveals two different folding states in solution.
Sun J et al.
Protein Science : a Publication of the Protein Society, 2024
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Blue EE et al.
Birth Defects Research, 2024
Heteromeric formation with βA3 protects the low thermal stability of βB1-L116P.
Xu J et al.
The British Journal of Ophthalmology, 2023
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
Endoplasmic Reticulum Stress and the Lysosomal Pathway Play Crucial Roles in the Progression of βB2-Crystallin Mutation-Induced Congenital Cataracts in Mice.
Xiao W et al.
Investigative Ophthalmology & Visual Science, 2023
Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts.
Chen D et al.
Experimental and Therapeutic Medicine, 2021
Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.
Yu Y et al.
Molecular Genetics & Genomic Medicine, 2021
Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients.
Chen D et al.
Journal of Ophthalmology, 2021
The novel mutation P36R in LRP5L contributes to congenital membranous cataract via inhibition of laminin γ1 and c-MAF.
Sun L et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2020
Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract.
Chen P et al.
International Journal of Ophthalmology, 2018
Effects of cataract-causing mutations W59C and W151C on βB2-crystallin structure, stability and folding.
Zhao WJ et al.
International Journal of Biological Macromolecules, 2017
BetaB2-crystallin mutations associated with cataract and glaucoma leads to mitochondrial alterations in lens epithelial cells and retinal neurons.
Dulle JE et al.
Experimental Eye Research, 2017
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.
Zhou Y et al.
Journal of Ophthalmology, 2016
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.
Chen W et al.
Plos One, 2013
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.
Weisschuh N et al.
Molecular Vision, 2012
Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.
Yao K et al.
Molecular Vision, 2011
Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.
Santhiya ST et al.
Molecular Vision, 2010
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
Mothobi ME et al.
Molecular Vision, 2009
A novel mutation in CRYBB2 responsible for inherited coronary cataract.
Lou D et al.
Eye (london, England), 2009
Novel allele of crybb2 in the mouse and its expression in the brain.
Ganguly K et al.
Investigative Ophthalmology & Visual Science, 2008
Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
Pauli S et al.
Molecular Vision, 2007
Truncation of motifs III and IV in human lens betaA3-crystallin destabilizes the structure.
Gupta R et al.
Biochemistry, 2006
Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
Santhiya ST et al.
Investigative Ophthalmology & Visual Science, 2004
Congenital hereditary cataracts.
Graw J
The International Journal of Developmental Biology, 2004
[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
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.
Faletra F et al.
Ophthalmic Genetics, 0