Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population-Reference-Cited by-同舟云学术

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Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population

Published:2019-08-29 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Zhang Jing,Wu Dan,Li Yue,Fan Yidan,Chen Huiyu,Hong Jiaxu,Xu Jianjiang

Funder

National Natural Science Foundation of China

Natural Science Foundation of Shanghai

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference38 articles.

1. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene;Akama;Nat. Genet.,2000

2. The genetics of the corneal dystrophies;Aldave;Dev. Ophthalmol.,2011

3. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy;Aldave;Am. J. Ophthalmol.,2004

4. E2-2 protein and Fuchs’s corneal dystrophy;Baratz;N. Engl. J. Med.,2010

5. Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy;Bredrup;Invest. Ophthalmol. Vis. Sci.,2010

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1. HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta;Journal of Medical Genetics;2024-08-30

2. Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells;PLOS ONE;2024-01-22

3. Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs’ endothelial corneal dystrophy;Frontiers in Medicine;2023-06-27

4. Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature;International Journal of Molecular Sciences;2023-03-06

5. Update on the Corneal Dystrophies—Genetic Testing and Therapy;Cornea;2022-07-04

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