TGFBI gene mutations in corneal dystrophies. (Q36472661)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255 AND SRC:MED&resulttype=core&format=json

21 January 2020

review article

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title

TGFBI gene mutations in corneal dystrophies (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255 AND SRC:MED&resulttype=core&format=json

21 January 2020

1

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21 January 2020

2

Gordon K Klintworth

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21 January 2020

publication date

1 July 2006

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21 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255 AND SRC:MED&resulttype=core&format=json

21 January 2020

volume

27

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21 January 2020

issue

7

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21 January 2020

page(s)

615-625

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

21 January 2020

cites work

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Granular dystrophy of the cornea. Characteristic electron microscopic lesion

21 January 2018

1 reference

7 January 2021

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

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7 January 2021

A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.

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7 January 2021

Purification and structural characterization of transforming growth factor beta induced protein (TGFBIp) from porcine and human corneas.

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7 January 2021

The transforming growth factor-beta-inducible matrix protein (beta)ig-h3 interacts with fibronectin

1 reference

7 January 2021

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

1 reference

7 January 2021

H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people

1 reference

7 January 2021

Novel fold revealed by the structure of a FAS1 domain pair from the insect cell adhesion molecule fasciclin I

1 reference

7 January 2021

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

1 reference

7 January 2021

A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA

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7 January 2021

Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene

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7 January 2021

Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene

1 reference

7 January 2021

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

1 reference

7 January 2021

Clinical outcome of eight BIGH3-linked corneal dystrophies.

1 reference

7 January 2021

Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I

1 reference

7 January 2021

cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium

1 reference

7 January 2021

Clinically Atypical Granular Corneal Dystrophy with Pathologic Features of Lattice-like Amyloid Deposits

1 reference

7 January 2021

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

1 reference

7 January 2021

Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies

1 reference

7 January 2021

Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)

1 reference

7 January 2021

Immunohistochemical and Ultrastructural Localization of MP78/70 (βig-h3) in Extracellular Matrix of Developing and Mature Bovine Tissues

1 reference

7 January 2021

Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 → Cys mutation in the kerato-epithelin gene

1 reference

7 January 2021

A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy

1 reference

7 January 2021

Unusual Superficial Variant of Granular Dystrophy of the Cornea

1 reference

7 January 2021

Covalent and non-covalent interactions of betaig-h3 with collagen VI. Beta ig-h3 is covalently attached to the amino-terminal region of collagen VI in tissue microfibrils.

1 reference

7 January 2021

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

1 reference

7 January 2021

R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1

1 reference

7 January 2021

Clinical features of a newly recognized type of lattice corneal dystrophy

1 reference

7 January 2021

Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I

1 reference

7 January 2021

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

1 reference

7 January 2021

BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy

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7 January 2021

Identification of motifs in the fasciclin domains of the transforming growth factor-beta-induced matrix protein betaig-h3 that interact with the alphavbeta5 integrin

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7 January 2021

Transforming growth factor-beta-inducible gene-h3 (beta(ig)-h3) promotes cell adhesion of human astrocytoma cells in vitro: implication of alpha6beta4 integrin

1 reference

7 January 2021

Lattice or Reis-Bücklers Corneal Dystrophy: A Question of Stromal Pathology*

1 reference

7 January 2021

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

1 reference

7 January 2021

Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene

1 reference

7 January 2021

Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein

1 reference

7 January 2021

Reevaluation of Corneal Dystrophies of Bowman??s Layer and the Anterior Stroma (Reis-B??cklers and Thiel-Behnke Types): A Light and Electron Microscopic Study of Eight Corneas and a Review of the Literature

1 reference

7 January 2021

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

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7 January 2021

Homogeneity of Kerato-Epithelin Codon 124 Mutations in Japanese Patients with Either of Two Types of Corneal Stromal Dystrophy

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7 January 2021

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

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7 January 2021

A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy

1 reference

7 January 2021

Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan

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7 January 2021

[Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family]

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7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

Gelatino-lattice corneal dystrophy: clinical features and mutational analysis

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7 January 2021

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

1 reference

7 January 2021

Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene

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7 January 2021

TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine

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7 January 2021

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

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7 January 2021

Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy

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7 January 2021

In vitro creation of amyloid fibrils from native and Arg124Cys mutated betaIGH3((110-131)) peptides, and its relevance for lattice corneal amyloid dystrophy type I

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7 January 2021

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

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7 January 2021

Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene

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7 January 2021

cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

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

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7 January 2021

Lattice corneal dystrophy type IIIA. Clinical and histopathologic correlations

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7 January 2021

Three autosomal dominant corneal dystrophies map to chromosome 5q

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7 January 2021

Immunolocalization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas

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7 January 2021

Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.

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7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

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

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7 January 2021

Linkage Mapping of Thiel–Behnke Corneal Dystrophy (CDB2) to Chromosome 10q23–q24

1 reference

7 January 2021

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

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7 January 2021

Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction

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7 January 2021