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
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Marakhonov AV et al.
Orphanet Journal of Rare Diseases, 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
Congenital microcornea-cataract syndrome-causing mutation X253R increases βB1-crystallin hydrophobicity to promote aggregate formation.
Leng XY et al.
The Biochemical Journal, 2016
Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula.
Khan AO et al.
The British Journal of Ophthalmology, 2012
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
Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
Hansen L et al.
Molecular Vision, 2007
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2007
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
Cohen D et al.
Investigative Ophthalmology & Visual Science, 2007
CRYBB1 mutation associated with congenital cataract and microcornea.
Willoughby CE et al.
Molecular Vision, 2005
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