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
A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.
Jin A et al.
Current Eye Research, 2020
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
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
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 CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.
Su D et al.
Molecular Vision, 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
A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.
Yang Z et al.
Molecular Vision, 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
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
Cohen D et al.
Investigative Ophthalmology & Visual Science, 2007
Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy.
Andley UP
Expert Reviews in Molecular Medicine, 2006
CRYBB1 mutation associated with congenital cataract and microcornea.
Willoughby CE et al.
Molecular Vision, 2005
Congenital hereditary cataracts.
Graw J
The International Journal of Developmental Biology, 2004
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
Mackay DS et al.
American Journal of Human Genetics, 2002
Molecular genetic basis of inherited cataract and associated phenotypes.
Reddy MA et al.
Survey of Ophthalmology, 0