Associated Papers
Detection Rate of Cataract-Related Gene Variants in Sporadic Childhood Cataract Patients in Southern China.
Luo Z et al.
American Journal of Ophthalmology, 2025
Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.
Zhang H et al.
Bmc Medical Genomics, 2025
Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.
Chaar DL et al.
Investigative Ophthalmology & Visual Science, 2025
Through the Cat-Map Gateway: A Brief History of Cataract Genetics.
Shiels A
Genes, 2024
Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.
Chen C et al.
Investigative Ophthalmology & Visual Science, 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
Mutation screening in autosomal dominant congenital cataract families from North India.
Goyal S et al.
Molecular Genetics and Genomics : Mgg, 2023
Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.
Qi C et al.
Molecular Medicine Reports, 2023
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Irum B et al.
Human Genome Variation, 2022
Three Novel Mutations of Microphthalmos Identified in Two Chinese Families.
Tang Y et al.
Phenomics (cham, Switzerland), 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
Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts.
Chen D et al.
Experimental and Therapeutic Medicine, 2021
A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.
Xu LJ et al.
European Journal of Ophthalmology, 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
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell S et al.
Genes, 2021
Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients.
Chen D et al.
Journal of Ophthalmology, 2021
Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.
Song IK et al.
International Journal of Molecular Sciences, 2020
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
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A et al.
Annual Review of Vision Science, 2019
A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract.
Ching YH et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Mutation profiles of congenital cataract genes in 21 northern Chinese families.
Zhang XH et al.
Molecular Vision, 2018
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
Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.
Li L et al.
Scientific Reports, 2017
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
Javadiyan S et al.
G3 (bethesda, Md.), 2017
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.
Zhai Y et al.
Scientific Reports, 2017
BetaB2-crystallin mutations associated with cataract and glaucoma leads to mitochondrial alterations in lens epithelial cells and retinal neurons.
Dulle JE et al.
Experimental Eye Research, 2017
A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.
Rao Y et al.
Molecular Vision, 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
Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.
Messina-Baas O et al.
Molecular Syndromology, 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
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 missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.
Chen W et al.
Plos One, 2013
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
sHSP in the eye lens: crystallin mutations, cataract and proteostasis.
Clark AR et al.
The International Journal of Biochemistry & Cell Biology, 2012
A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.
Vanita V et al.
Molecular and Cellular Biochemistry, 2012
Clinical and experimental advances in congenital and paediatric cataracts.
Churchill A et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011
Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.
Yao K et al.
Molecular Vision, 2011
Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.
Santhiya ST et al.
Molecular Vision, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
Mothobi ME et al.
Molecular Vision, 2009
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.
Khan AO et al.
Molecular Vision, 2009