Genetics of anterior and stromal corneal dystrophies (Q37063524)

18 August 2017

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title

Genetics of anterior and stromal corneal dystrophies (English)

1 reference

18 August 2017

Vasilliki Poulaki

1

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PubMed ID

18214787

18 August 2017

Kathryn Colby

series ordinal

2

1 reference

PubMed ID

18214787

18 August 2017

language of work or name

English

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publication date

1 January 2008

1 reference

Seminars in Ophthalmology

18 August 2017

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18 August 2017

23

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18 August 2017

1

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18 August 2017

9-17

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

18 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Clinical outcome of eight BIGH3-linked corneal dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Macular corneal dystrophy: failure to synthesize a mature keratan sulfate proteoglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

TGFBI gene mutations in corneal dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Beta IG-H3, a novel secretory protein inducible by transforming growth factor-beta, is present in normal skin and promotes the adhesion and spreading of dermal fibroblasts in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Unusual phenotype of an individual with the R124C mutation in the TGFBI gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Genetics of corneal dystrophies: the evolving landscape

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Clinical, histopathologic, and ultrastructural characteristics of BIGH3(TGFBI) amyloid corneal dystrophies are supportive of the existence of a new type of LCD: the LCDi.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Three autosomal dominant corneal dystrophies map to chromosome 5q

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

A new mutation (Leu569Arg) within Exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745173

10.1080/08820530701745173

21 January 2018

Identifiers

DOI

1 reference

18 August 2017

1 reference

PubMed ID

18214787