×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
The current study highlighted the demand of further functional investigations to evaluate the causality of CHST6 variants, so as to promote earlier accurate diagnosis of MCD and future development of potential targets for genetic therapy.
30716718
2019
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
We identified a novel E71Q mutation in CHST6 as the MCD -causal mutation in a black South African family with type I MCD .
27439461
2016
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
The novel CHST6 mutation shows the heterogeneity of MCD .
27755187
2016
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
UNIPROT
Three novel and six previously reported disease-causing CHST6 mutations were identified, which expands the mutational spectrum of MCD .
26604660
2015
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
CausalMutation
disease
CLINVAR
Three novel and six previously reported disease-causing CHST6 mutations were identified, which expands the mutational spectrum of MCD .
26604660
2015
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
Three novel and six previously reported disease-causing CHST6 mutations were identified, which expands the mutational spectrum of MCD .
26604660
2015
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
CausalMutation
disease
CLINVAR
Macular corneal dystrophy and associated corneal thinning.
25081284
2014
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
CausalMutation
disease
CLINVAR
Phenotype and genotype analysis in patients with macular corneal dystrophy.
24926691
2014
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
UNIPROT
A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.
24311932
2013
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
Biomarker
disease
BEFREE
All cases could not be explained by mutations in CHST6, suggesting that MCD may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity.
22261655
2012
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
UNIPROT
A novel p.Pro186Arg mutation in CHST6 is associated with MCD type II in an African American.
21242781
2011
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
A novel p.Pro186Arg mutation in CHST6 is associated with MCD type II in an African American.
21242781
2011
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
CausalMutation
disease
CLINVAR
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.
20539220
2010
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
Six homozygous mutations, of which three are novel, were identified within the coding region of CHST6 in six unrelated MCD families.
19734134
2010
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
CHST6 mutations may be responsible for the pathogenesis of MCD in Chinese patients.
20539220
2010
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
Moreover, the observation that some cases of MCD cannot be explained by mutations in the coding region of CHST6 suggests that MCD may result from possible upstream rearrangements in the CHST6 genomic region.
19223992
2009
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GermlineCausalMutation
disease
ORPHANET
To identify mutations in the carbohydrate sulfotransferase gene (CHST6 ) for a Chinese family with macular corneal dystrophy (MCD ) and to investigate the histopathological changes in the affected cornea.
19365571
2009
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
CausalMutation
disease
CLINVAR
To identify mutations in the carbohydrate sulfotransferase gene (CHST6 ) for a Chinese family with macular corneal dystrophy (MCD ) and to investigate the histopathological changes in the affected cornea.
19365571
2009
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
Sixty-four patients from 53 families with MCD that were previously screened for mutations in CHST6 were included in an immunophenotype analysis.
19204788
2009
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
UNIPROT
To identify mutations in the carbohydrate sulfotransferase gene (CHST6 ) for a Chinese family with macular corneal dystrophy (MCD ) and to investigate the histopathological changes in the affected cornea.
19365571
2009
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
To identify mutations in the carbohydrate sulfotransferase gene (CHST6 ) for a Chinese family with macular corneal dystrophy (MCD ) and to investigate the histopathological changes in the affected cornea.
19365571
2009
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
CausalMutation
disease
CLINVAR
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.
18500531
2008
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
GeneticVariation
disease
BEFREE
The coding region of the CHST6 gene was directly sequenced in 10 affected and five unaffected members from eight apparently unrelated MCD families.
17962390
2008
×
Entrez Id:
4166
Gene Symbol:
CHST6
CHST6
0.800
CausalMutation
disease
CLINVAR
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.
17962390
2008