Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. (Q36499367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385782%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385782%20AND%20SRC:MED&resulttype=core&format=json

lattice corneal dystrophy

5 January 2020

main subject

1 reference

1 reference

5

1 reference

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5 January 2020

6

Gordon K Klintworth

1 reference

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5 January 2020

1

Natalie A Afshari

1 reference

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5 January 2020

author name string

Rosanna P Bahadur

series ordinal

2

1 reference

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5 January 2020

David E Eifrig

series ordinal

3

1 reference

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5 January 2020

Ida B Thogersen

series ordinal

4

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5 January 2020

language of work or name

1 reference

12 March 2008

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5 January 2020

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5 January 2020

volume

14

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5 January 2020

page(s)

495-499

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TGFBI gene mutations in corneal dystrophies.

5 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

Histopathologic and immunochemical features of lattice corneal dystrophy type III.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268855

BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies

4 December 2018

1 reference

12 December 2020

Unilateral corneal lattice dystrophy

1 reference

12 December 2020

Clinical features of a newly recognized type of lattice corneal dystrophy

1 reference

12 December 2020

Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385782%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference