CRYBA3/A1 Gene Mutation Associated with Suture-Sparing Autosomal Dominant Congenital Nuclear Cataract: A Novel Phenotype
Author:
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Cited by 35 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Dysregulation of Autophagy Occurs During Congenital Cataract Development in βA3ΔG91 Mice;Investigative Opthalmology & Visual Science;2024-04-01
2. Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga–Ural Region;Current Issues in Molecular Biology;2023-06-15
3. Lens-specific βA3/A1-conditional knockout mice: Phenotypic characteristics and calpain activation causing protein degradation and insolubilization;PLOS ONE;2023-03-29
4. Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies;International Journal of Biological Macromolecules;2021-10
5. Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability;British Journal of Ophthalmology;2021-09-06
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