Associated Papers
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
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S2_.xlsx › Sheet1
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Musolf AM et al.
Communications Biology, 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
33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1
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
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Schwerd T et al.
The Journal of Experimental Medicine, 2017
28747427 (PubMed )
Supplement: JEM_20161810_sm.pdf
[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 types I and II are caused by distinct mutations in the CHST6 gene in Iceland.
Liu NP et al.
Molecular Vision, 2006
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.
Klintworth GK et al.
Molecular Vision, 2006
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship.
Liu NP et al.
American Journal of Ophthalmology, 2005
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.
Liu NP et al.
Molecular Vision, 2000
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