CHST6 Antibody

1. This is the first molecular analysis of TGFBI and CHST6 in Turkish patients with different types of corneal dystrophies. PMID: 27829782
2. 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. PMID: 27439461
3. Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy. PMID: 26604660
4. 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). PMID: 25081284
5. This novel gene mutation expands the mutation spectrum of the CHST6 gene and contributes to the study of molecular pathogenesis of corneal dystrophy. PMID: 24311932
6. Genetic mutation heterogeneity was revealed. No phenotype heterogeneity was revealed among patients with in vivo corneal morphology assessment or histological analysis. PMID: 24926691
7. 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. PMID: 24801599
8. Macular corneal dystrophy (MCD) may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity. PMID: 22261655
9. analysis of pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies PMID: 21887843
10. 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. PMID: 21242781
11. CHST6 mutations may be responsible for the pathogenesis of macular corneal dystrophy (MCD) in Chinese patients. PMID: 20539220
12. Novel mutations are thought to result in loss of corneal sulfotransferase function. PMID: 11818380
13. patients with MCD (macular corneal dystrophy) combined with those reported in previous studies indicated CHST6 mutational heterogeneity. PMID: 12824236
14. Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of macular corneal dystrophy. PMID: 12882769
15. Mutations identified in the CHST6 gene cosegregated with the disease phenotype in all but one family studied and thus caused macular corneal dystrophy. PMID: 12882775
16. novel frameshift and compound heterozygous mutations might be responsible for macular corneal dystrophy PMID: 12883341
17. 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. PMID: 14609920
18. We identified 22 (5 nonsense, 5 frameshift, 2 insertion, and 10 missense) mutations in 36 patients from 31 families with MCD (macular corneal dystrophy) PMID: 14735064
19. 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. PMID: 15013869
20. the stem region of GlcNAc6ST-1 influences substrate specificity, independent of its role in dimerization or Golgi retention. PMID: 15220337
21. These novel mutations are expected to result in loss of CHST6 function, which would account for the MCD (macular corneal dystrophy) phenotype. PMID: 15652851
22. These findings indicate that the predicted protein that is encoded by CHST6 is more severely affected in the individual with MCD type I than in the siblings with MCD type II. PMID: 15953452
23. Twenty-six different mutations of the CHST6 gene in macular corneal dystrophy in India were identified, of which 14 mutations are novel. PMID: 16207214
24. CHST6 mutations are cardinal to the pathogenesis of macular corneal dystrophy(MCD). MCD may result from other subtle changes in CHST6 or from genetic heterogeneity. PMID: 16568029
25. Homozygous p.A128V mutation in CHST6 gene and compound heterozygote for p.A128V and frameshift p.V6fs resulting from 10-base pair insertion in macular corneal dystrophy(MCD)I. Compound heterozygotes for p.A128V and p.V329L in MCD II. PMID: 17093400
26. In vivo laser confocal microscopy is capable of high-resolution visualization of characteristic corneal microstructural changes related to 3 types of genetically mapped corneal stromal dystrophies. PMID: 17846354
27. Novel homozygous missense mutation involving a highly conserved amino acid (c.518T > C; Leu173Pro). PMID: 17896316
28. study describes four CHST6 missense mutations present in seven of eight Czech macular corneal dystrophy (MCD) families of which the c.494G>A (p.C165Y) was novel; findings support a common founder effect for MCD in the Czech Republic PMID: 17962390
29. Our study shows the wide range of diagnostic findings and therapeutical options in patients suffering from macular corneal dystrophy depending on the genotype. PMID: 18500531
30. GlcNAc6ST-1 transcription is coordinated with the NF-kappaB/GATA-3 axis, which is known to figure heavily in Th2 cell differentiation PMID: 18849568
31. in macular corneal dystrophy (MCD) patients, there were no simple correlations between immunophenotypes and specific mutations in CHST6, suggesting that factors other than CHST6 mutations may be contributing to the immunophenotypes in MCD PMID: 19204788
32. study identified seven novel and three previously reported CHST6 mutations in our panel consisting of 20 Iranian macular corneal dystrophy patients from 12 families PMID: 19223992
33. The novel compound heterozygous mutations may contribute to the loss of CHST6 function, which induced the abnormal metabolism of keratan sulfate (KS) that deposited in the corneal stroma. PMID: 19365571

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HGNC: 6938

OMIM: 217800

KEGG: hsa:4166

STRING: 9606.ENSP00000328983

UniGene: Hs.655622