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anti-Human CHST6 Anticorps:
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This is the first molecular analysis of TGFBI and CHST6 in Turkish patients with different types of corneal dystrophies.
E71Q mutation results in a non-conservative amino acid change in a highly conserved functional domain of the human CHST6 that is essential for enzyme activity as the cause of Macular corneal dystrophy.
Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy.
Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys).
This novel gene mutation expands the mutation spectrum of the CHST6 gene and contributes to the study of molecular pathogenesis of corneal dystrophy.
Genetic mutation heterogeneity was revealed. No phenotype heterogeneity was revealed among patients with in vivo corneal morphology assessment or histological analysis.
This study improves the knowledge of the genetic features of Mexican patients with corneal stromal dystrophies by identifying mutations in the TGFBI, CHST6, and GSN genes.
Macular corneal dystrophy (MCD) may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity.
analysis of pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies
CHST6 gene sequencing revealed 2 heterozygous mutations in case 1, a p.Arg211Gln and a novel mutation of p.Arg177Gly and a novel homozygous mutation of p.Pro186Arg in case 2.
CHST6 mutations may be responsible for the pathogenesis of macular corneal dystrophy (MCD) in Chinese patients.
Novel mutations are thought to result in loss of corneal sulfotransferase function.
patients with MCD (macular corneal dystrophy) combined with those reported in previous studies indicated CHST6 mutational heterogeneity.
Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of macular corneal dystrophy.
Mutations identified in the CHST6 gene cosegregated with the disease phenotype in all but one family studied and thus caused macular corneal dystrophy.
novel frameshift and compound heterozygous mutations might be responsible for macular corneal dystrophy
Mutations in the coding region of the CHST6 gene are associated with type I MCD (macular corneal dystrophy) in a cohort of patients in southern India.
We identified 22 (5 nonsense, 5 frameshift, 2 insertion, and 10 missense) mutations in 36 patients from 31 families with MCD (macular corneal dystrophy)
mutations in the coding region of the CHST6 gene are associated with type I macular corneal dystrophy in a cohort of patients from the United States.
the stem region of GlcNAc6ST-1 influences substrate specificity, independent of its role in dimerization or Golgi retention.
The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD).
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
, carbohydrate sulfotransferase 6-like
, carbohydrate sulfotransferase 5
, N-acetylglucosamine 6-O-sulfotransferase 5
, carbohydrate sulfotransferase 6
, corneal N-acetylglucosamine 6-sulfotransferase
, corneal N-acetylglucosamine-6-O-sulfotransferase
, galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta