Associated Papers
Genetic implications of CHST6 gene mutations and their corneal microstructural changes in macular corneal dystrophy patients.
Murugan D et al.
Molecular Vision, 2024
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
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
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
Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.
Castro-Vega LJ et al.
Nature Communications, 2015
25625332 (PubMed )
Supplement: ncomms7044-s3.xlsx › Supplementary_Data_2
[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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.
Warren JF et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 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
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