A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia-Reference-Cited by-同舟云学术

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A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia

Published:2019-10-15 Issue:4 Volume:45 Page:483-489
ISSN:0271-3683
Container-title:Current Eye Research
language:en
Short-container-title:Current Eye Research

Author:

Jin Aixia¹,Zhang Yu²,Xiao Dongchang¹,Xiang Mengqing¹³,Jin Kangxin¹^ORCID,Zeng Mingbing¹⁴

Affiliation:

1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China

2. Department of Gastroenterology, Renmin Hospital of Wuhan University, Wuhan, China

3. Guangdong Provincial Key Laboratory of Brain Function and Disease, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China

4. Hainan Eye Hospital, Hainan Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Haikou, China

Publisher

Informa UK Limited

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Link

https://www.tandfonline.com/doi/pdf/10.1080/02713683.2019.1675176

Reference50 articles.

1. The lens growth process

2. Intrinsic and extrinsic regulatory mechanisms are required to form and maintain a lens of the correct size and shape

3. Mutations and mechanisms in congenital and age-related cataracts

4. New cataract markers: Mechanisms of disease

Cited by 7 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. Cataract-causing Y204X mutation of crystallin protein CRYβB1 promotes its C-terminal degradation and higher-order oligomerization;Journal of Biological Chemistry;2023-08

2. Pathogenic genetic variants identified in Australian families with paediatric cataract;BMJ Open Ophthalmology;2022-08

3. Cataract-Causing S93R Mutant Destabilized Structural Conformation of βB1 Crystallin Linking With Aggregates Formation and Cellular Viability;Frontiers in Molecular Biosciences;2022-03-14

4. Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family;Frontiers in Genetics;2022-02-10

5. EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families;International Journal of Molecular Sciences;2021-02-22

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