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ProteomicsProtein accumulation post-LASIK surgery in granular corneal dystrophy type II patients involves altered proteolytic processing of transforming growth factor beta-induced protein (TGFBIp)
his study present the protein profile of diseased cornea from granular corneal dystrophy patients developing protein accumulation after LASIK surgery. Extracted ion chromatography (XIC) label free quantification was perform using Mascot Distiller software. In addition, 2D-PAGE followed by western bl...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-10-04 | MSV000080219 | MassIVE
ProteomicsProtein composition of TGFBI-R124C and TGFBI-R555W associated aggregates suggests multiple mechanisms leading to Lattice and Granular corneal dystrophy
Transforming Growth Factor Beta-induced (TGFBI)-related dystrophies constitute the most common heritable forms of corneal dystrophy worldwide. However, other than the underlying genotypes of these conditions, a limited knowledge exists of the exact pathomechanisms of these disorders. This study expa...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-07-22 | MSV000079985 | MassIVE
ProteomicsProteomics analysis of amyloid corneal aggregates from lattice corneal dystrophy patients
TGFBI associated Corneal Dystrophies (CD) are a group of inherited protein folding disorders linked to the mutation in the TGFBI gene. The resultant mutant protein (TGFBIp) is deposited as insoluble protein aggregates in various layers of the cornea leading to corneal opacity and poor vision. Depen...
ORGANISM(S): Homo sapiens (Human) 
2022-02-28 | PXD006640 | Pride
Corneal dystrophy Tgfbip Laser capture microdissection Amyloid fibrils Tgfbi Lattice corneal dystrophy Htra1 Apolipoprotein 
ProteomicsProtein composition of TGFBI-R124C and TGFBI-R555W associated aggregates suggests multiple mechanisms leading to Lattice and Granular corneal dystrophy
Transforming Growth Factor Beta-induced (TGFBI)-related dystrophies constitute the most common heritable forms of corneal dystrophy worldwide. However, other than the underlying genotypes of these conditions, a limited knowledge exists of the exact pathomechanisms of these disorders. This study expa...
ORGANISM(S): Homo sapiens (Human) 
2015-11-18 | PXD002236 | Pride
Granular corneal dystrophy Lattice corneal dystrophy Human cornea 
UnknownA novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
Not available
S-EPMC2786890 | biostudies-literature
ProteomicsThe structures of R124H and R555W TGFBIp suggest a direct role of the mutated residues in the aggregation of TGFBIp in granular corneal dystrophy
Protein aggregation in the outermost layers of the cornea, leading to cloudy vision and in severe cases blindness, is linked to mutations in the extracellular matrix protein, transforming growth factor-β-induced protein (TGFBIp). Among the most frequent disease-causing mutations are R124H and R555W,...
ORGANISM(S): Homo sapiens (Human) 
2021-09-08 | PXD022976 | Pride
Tgfbip X‐ray crystallography Extracellular matrix protein Lattice corneal dystrophy Granular corneal dystrophy Protein cross‐linking Tgfbi Protein aggregation 
UnknownAnticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
Not available
S-EPMC2373796 | biostudies-literature
UnknownCoexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.
Not available
S-EPMC7861493 | biostudies-literature
UnknownUnique TGFBI protein in lattice corneal dystrophy.
Not available
S-EPMC3253538 | biostudies-literature
TranscriptomicsComparative genomic hybridization of mouse liver and tumors from Acd mutant and wild type strains in p53 deficient background
DNA from tumors of 10 male mice were competitively hybridized with DNA from liver samples from the same mouse on NimbleGen CGH arrays to assess copy number changes in the tumors. Four of the mice were wildtype for Acd (ortholog of human TPP1), 2 of which were p53-/- and 2 of which were p53-/+. The...
ORGANISM(S): Mus musculus 
2009-04-07 | E-TABM-680 | biostudies-arrayexpress
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