Associated Papers
Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.
Delas F et al.
Biomedicines, 2025
Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.
Berry V et al.
Genes, 2025
Identification of mutations associated with congenital cataracts in nineteen Chinese families.
Sun HS et al.
Bmc Ophthalmology, 2025
Identification of co-segregating GJA3 and CRYBA1 missense variants in a Chinese family with congenital cataract: a possible digenic etiology.
Zhou C et al.
Frontiers in Medicine, 2025
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Lecca M et al.
Clinical Genetics, 2024
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
Cataract-related variant R114C increases βA3-crystallin susceptibility to environmental stresses by disrupting the protein senior structure.
Chen S et al.
International Journal of Biological Macromolecules, 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
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.
Khidiyatova I et al.
Current Issues in Molecular Biology, 2023
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
Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability.
Wang H et al.
The British Journal of Ophthalmology, 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
Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies.
Xu J et al.
International Journal of Biological Macromolecules, 2021
Crystalline gene mutations in Turkish children with congenital cataracts.
Karahan M et al.
International Ophthalmology, 2021
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 genetic landscape of crystallins in congenital cataract.
Berry V et al.
Orphanet Journal of Rare Diseases, 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
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
Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract.
Mohebi M et al.
Acta Medica Iranica, 2016
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Sergouniotis PI et al.
Orphanet Journal of Rare Diseases, 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
The human W42R γD-crystallin mutant structure provides a link between congenital and age-related cataracts.
Ji F et al.
The Journal of Biological Chemistry, 2013
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 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
Mutation analysis of 12 genes in Chinese families with congenital cataracts.
Sun W et al.
Molecular Vision, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.
Gu Z et al.
Molecular Vision, 2010
Deamidation destabilizes and triggers aggregation of a lens protein, betaA3-crystallin.
Takata T et al.
Protein Science : a Publication of the Protein Society, 2008
Mutation of interfaces in domain-swapped human betaB2-crystallin.
Smith MA et al.
Protein Science : a Publication of the Protein Society, 2007
Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy.
Andley UP
Expert Reviews in Molecular Medicine, 2006
Truncation of motifs III and IV in human lens betaA3-crystallin destabilizes the structure.
Gupta R et al.
Biochemistry, 2006
Molecular diagnostics of genetic eye diseases.
Fan BJ et al.
Clinical Biochemistry, 2006
Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.
Reddy MA et al.
Human Molecular Genetics, 2004
Congenital hereditary cataracts.
Graw J
The International Journal of Developmental Biology, 2004