Identification of GJA3 p.S50P Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract and Its Underlying Pathogenesis
Author:
Affiliation:
1. Eye Center of Xiangya Hospital, Central South University, Changsha, China.
2. Hunan Key Laboratory of Ophthalmology, Central South University, Changsha, China.
Publisher
Mary Ann Liebert Inc
Subject
Cell Biology,Genetics,Molecular Biology,General Medicine
Link
https://www.liebertpub.com/doi/pdf/10.1089/dna.2020.5605
Reference21 articles.
1. Focus on lens connexins
2. Transgenic overexpression of connexin50 induces cataracts
3. The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium
4. The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins
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