Associated Papers
Cataract-causing Y204X mutation of crystallin protein CRYβB1 promotes its C-terminal degradation and higher-order oligomerization.
Jing X et al.
The Journal of Biological Chemistry, 2023
A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.
Ji Y et al.
European Journal of Ophthalmology, 2021
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.
Jin A et al.
Current Eye Research, 2020
A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.
Rao Y et al.
Molecular Vision, 2017
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula.
Khan AO et al.
The British Journal of Ophthalmology, 2012
A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer.
Wang KJ et al.
Human Mutation, 2011
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
Meyer E et al.
Molecular Vision, 2009
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
Yang J et al.
Molecular Vision, 2008
CRYBB1 mutation associated with congenital cataract and microcornea.
Willoughby CE et al.
Molecular Vision, 2005
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