WebOct 13, 2024 · Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missense mutation and a rare exon deletion mutation in the CHST6 gene in a Chinese family with MCD. Genomic DNA was … WebOct 13, 2024 · Background: Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missense mutation and a rare exon deletion mutation in the CHST6 gene in a Chinese family with MCD.
Macular corneal dystrophy related to novel mutations of CHST6 in …
WebSingle cell type - CHST6 - The Human Protein Atlas Fields » SUMMARY TISSUE BRAIN SINGLE CELL TISSUE CELL PATHOLOGY DISEASE IMMUNE BLOOD SUBCELL CELL LINE STRUCTURE METABOLIC CHST6 SINGLE CELL TYPE TISSUES Cell type proteome SINGLE CELL TYPESi Single cell types Group Expression Alphabetical WebNov 13, 2024 · While characterized by macular stromal deposits, we report a case of MCD type II with isolated bilateral peripheral Decemet membrane opacities, describing the clinical features and results of screening the CHST6gene … teaching training application
Novel Mutations in the CHST6 Gene Associated With …
WebFeb 19, 2024 · The gene of MCD has been mapped to 16q22 locus of chromosome 16. CHST6 encodes an enzyme carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 involved in the sulfation of keratan sulfate (glycosaminoglycan), which plays a role in corneal transparency [ 3, 19 ]. WebDec 6, 2024 · CHST6 gene is the only candidate gene so far known in MCD and has been further screened in different ethnic populations of keratan sulfate (KS) essential for … WebApr 12, 2024 · Metabolic acidosis (MA) is a highly prevalent disorder in a significant proportion of the population, resulting from imbalance in blood pH homeostasis. The heart, being an organ with very low regenerative capacity and high metabolic activity, is vulnerable to chronic, although low-grade, MA. To systematically characterize the effect of low … teaching training application gov