Associated Papers
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants.
Kenawy Amin A et al.
Ophthalmic Genetics, 2026
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.
Huang Y et al.
Annals of Translational Medicine, 2021
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.
Safari I et al.
International Ophthalmology, 2020
A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.
Zhang J et al.
Aging, 2019
Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.
Yaylacioglu Tuncay F et al.
Molecular Vision, 2016
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.
Liu Z et al.
Cornea, 2010
[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].
Qi YH et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2010
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.
Gruenauer-Kloevekorn C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2008
[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].
Tian X et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.
Iida-Hasegawa N et al.
Investigative Ophthalmology & Visual Science, 2003
Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate.
Akama TO et al.
The Journal of Biological Chemistry, 2001
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.
Akama TO et al.
Nature Genetics, 2000