Associated Papers
The c.119-123dup5bp mutation in human γC-crystallin destabilizes the protein and activates the unfolded protein response to cause highly variable cataracts.
Shah MH et al.
Scientific Reports, 2025
Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.
Yahalom C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing.
Fox JC et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2024
Generation of Lens Progenitor Cells and Lentoid Bodies from Pluripotent Stem Cells: Novel Tools for Human Lens Development and Ocular Disease Etiology.
Cvekl A et al.
Cells, 2022
A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities.
Ni SH et al.
European Journal of Ophthalmology, 2022
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.
Taylan Sekeroglu H et al.
Molecular Syndromology, 2020
The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.
Li D et al.
Bmc Medical Genetics, 2019
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Zhuang J et al.
Molecular Vision, 2019
Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract.
Wang KJ et al.
Current Eye Research, 2018
Mutation profiles of congenital cataract genes in 21 northern Chinese families.
Zhang XH et al.
Molecular Vision, 2018
Mutations and mechanisms in congenital and age-related cataracts.
Shiels A et al.
Experimental Eye Research, 2017
Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.
Ma Z et al.
Biochimica Et Biophysica Acta, 2016
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie RL et al.
Ophthalmology, 2014
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Structural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparency.
Vendra VP et al.
Plos One, 2013
A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family.
Yang Z et al.
Molecular Vision, 2012
Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1.
Yu Y et al.
Molecular Vision, 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 recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.
Yang G et al.
Molecular Vision, 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
Mutation analysis of 12 genes in Chinese families with congenital cataracts.
Sun W et al.
Molecular Vision, 2011
A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.
Zhu Y et al.
Molecular Vision, 2010
Crystallin gene mutations in Indian families with inherited pediatric cataract.
Devi RR et al.
Molecular Vision, 2008
Molecular genetics of cataract.
Hejtmancik JF et al.
Developments in Ophthalmology, 2003
[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