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TGFBI gene mutations in corneal dystrophies.
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1 reference
stated in
Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
review article
1 reference
stated in
Europe PubMed Central
title
TGFBI gene mutations in corneal dystrophies
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
author
Chitra Kannabiran
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1
1 reference
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Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
Gordon K. Klintworth
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object named as
Gordon K Klintworth
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
publication date
1 July 2006
1 reference
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Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
volume
27
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
issue
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
page(s)
615-625
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
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Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene
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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
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TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients
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H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people
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Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation
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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
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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
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Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene
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7 January 2021
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Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene
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7 January 2021
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Clinical outcome of eight BIGH3-linked corneal dystrophies.
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Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I
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7 January 2021
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cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium
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Crossref
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7 January 2021
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Clinically Atypical Granular Corneal Dystrophy with Pathologic Features of Lattice-like Amyloid Deposits
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7 January 2021
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A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
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7 January 2021
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Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies
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Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)
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7 January 2021
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Immunohistochemical and ultrastructural localization of MP78/70 (betaig-h3) in extracellular matrix of developing and mature bovine tissues
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7 January 2021
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Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene. sgupta@ogh.on.ca
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7 January 2021
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A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
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7 January 2021
based on heuristic
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Unusual Superficial Variant of Granular Dystrophy of the Cornea
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Crossref
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7 January 2021
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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.
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Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen
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7 January 2021
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R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1
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Crossref
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7 January 2021
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Clinical features of a newly recognized type of lattice corneal dystrophy
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Crossref
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7 January 2021
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Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy.
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
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7 January 2021
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inferred from DOI database lookup
BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy
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7 January 2021
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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
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Lattice or Reis-Bücklers Corneal Dystrophy: A Question of Stromal Pathology*
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
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7 January 2021
based on heuristic
inferred from DOI database lookup
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
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7 January 2021
based on heuristic
inferred from DOI database lookup
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
[Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family]
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
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7 January 2021
based on heuristic
inferred from DOI database lookup
Unusual phenotype of an individual with the R124C mutation in the TGFBI gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gelatino-lattice corneal dystrophy: clinical features and mutational analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lattice corneal dystrophy type IIIA. Clinical and histopathologic correlations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three autosomal dominant corneal dystrophies map to chromosome 5q
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Immunolocalization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new mutation (Leu569Arg) within Exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20334
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.20334
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
PubMed publication ID
16683255
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16683255
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683255%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
ResearchGate publication ID
7098401
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