(Q34882361)

English

Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

gelatinous drop-like corneal dystrophy

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author name string

Mina Nakatsukasa

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Satoshi Kawasaki

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Kenta Yamasaki

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Hideki Fukuoka

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Akira Matsuda

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Kohji Nishida

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Shigeru Kinoshita

7

1 reference

Europe PubMed Central

PMC publication ID

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30 January 2020

publication date

19 April 2011

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Molecular Vision

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

17

1 reference

Europe PubMed Central

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30 January 2020

965-970

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Tumor-associated calcium signal transducer 2 is required for the proper subcellular localization of claudin 1 and 7: implications in the pathogenesis of gelatinous drop-like corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

Allelic homogeneity in Avellino corneal dystrophy due to a founder effect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

The cell-cell adhesion molecule EpCAM interacts directly with the tight junction protein claudin-7

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

Lactoferrin Glu561Asp facilitates secondary amyloidosis in the cornea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

Epithelial barrier function and ultrastructure of gelatinous drop-like corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

Identification of the gene responsible for gelatinous drop-like corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

Histopathology of recurrent gelatinous drop-like corneal dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

8 July 2018

Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

26 October 2018

Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

26 October 2018

Phenotypic investigation of cell junction-related proteins in gelatinous drop-like corneal dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

26 October 2018

A spectrum of clinical manifestations of gelatinous drop-like corneal dystrophy in japan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084224

26 October 2018

A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gelatinous drop-like dystrophy. A form of primary corneal amyloidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary familial amyloidosis of the cornea

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541270%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

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