Associated Papers
Cataract-Causing Mutant R188C of βB2 Crystallin With Low Structural Stability is Sensitive to Environmental Stresses and Prone to Aggregates Formation.
Yu Y et al.
Exploration (beijing, China), 2025
A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.
Xu LJ et al.
European Journal of Ophthalmology, 2021
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
Taylan Şekeroğlu H et al.
Turkish Journal of Ophthalmology, 2021
Chemical Properties Determine Solubility and Stability in βγ-Crystallins of the Eye Lens.
Rocha MA et al.
Chembiochem : a European Journal of Chemical Biology, 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
Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families.
Wang X et al.
Frontiers in Medicine, 2021
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
A Triple Mutation of BetaB2-Crystallin is Necessary to Develop Cataract and Glaucoma.
Rübsam A et al.
Journal of Clinical & Experimental Ophthalmology, 2017
Cataract-associated P23T γD-crystallin retains a native-like fold in amorphous-looking aggregates formed at physiological pH.
Boatz JC et al.
Nature Communications, 2017
Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain.
Qi LB et al.
Protein & Cell, 2016
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.
Zhou Y et al.
Journal of Ophthalmology, 2016
Cataract-causing mutation R233H affects the stabilities of βB1- and βA3/βB1-crystallins with different pH-dependence.
Xi YB et al.
Biochimica Et Biophysica Acta, 2014
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
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.
Weisschuh N et al.
Molecular Vision, 2012
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.
Faletra F et al.
Ophthalmic Genetics, 0