(Q33430014)

26 July 2017

Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. (English)

1 reference

macular corneal dystrophy

26 July 2017

1 reference

Xiuhong Dang

1

1 reference

26 July 2017

Qingguo Zhu

2

1 reference

26 July 2017

Li Wang

3

1 reference

26 July 2017

Hong Su

4

1 reference

26 July 2017

Hui Lin

5

1 reference

26 July 2017

Nan Zhou

6

1 reference

26 July 2017

Ting Liang

7

1 reference

26 July 2017

Zheng Wang

8

1 reference

26 July 2017

Shangzhi Huang

9

1 reference

26 July 2017

Qiushi Ren

10

1 reference

26 July 2017

Yanhua Qi

11

1 reference

26 July 2017

6 April 2009

1 reference

26 July 2017

1 reference

26 July 2017

15

1 reference

26 July 2017

700-705

1 reference

CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.

26 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Focus on molecules: CHST6 (carbohydrate sulfotransferase 6; corneal N-acetylglucosamine-6-sulfotransferase).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Novel mutations in the CHST6 gene causing macular corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Physical and genetic mapping of the macular corneal dystrophy locus on chromosome 16q and exclusion of TAT and LCAT as candidate genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Linkage of a gene for macular corneal dystrophy to chromosome 16

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Immunohistochemical evidence of heterogeneity in macular corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Macular corneal dystrophy in Iceland

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2666773

Decreased GlcNAc 6-O-sulfotransferase activity in the cornea with macular corneal dystrophy

31 October 2018

1 reference

12 December 2020

Immunohistochemical classification of primary and recurrent macular corneal dystrophy in Germany: subclassification of immunophenotype I A using a novel keratan sulfate antibody

1 reference

12 December 2020

Corneal thinning in macular corneal dystrophy

1 reference

12 December 2020

Heterogeneity in macular corneal dystrophy

1 reference

12 December 2020

Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients

1 reference

12 December 2020

Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype

1 reference

12 December 2020

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy

1 reference

12 December 2020

Identifiers

PMCID

2666773

1 reference

26 July 2017

1 reference