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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
TranscriptomicsPosterior Amorphous Corneal Dystrophy Is Associated with a Deletion of Small Leucine-rich Proteoglycans on Chromosome 12
Posterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder affecting the cornea and iris. After next-generation sequencing of the family in which linkage analysis identified a chromosomal locus for PACD on 12q21.33 failed to yield a pathogenic mutation, array-based copy numb...
ORGANISM(S): Homo sapiens 
2014-06-04 | E-GEOD-50573 | biostudies-arrayexpress
TranscriptomicsIdentification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus
Purpose: To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1). Methods: Next-generation sequencing was performed on DNA samples from 4 affected and 4 unaffected members of a previously reported family with PPCD1 linked to chromosome 20 between D20S182 and D20S195. Cus...
ORGANISM(S): Homo sapiens 
2016-06-30 | E-GEOD-72617 | biostudies-arrayexpress
OtherProteomics of Fuchs- Endothelial Corneal Dystrophy support that the extracellular matrix of Descemet-s membrane is disordered.
Data from ProteomeXchange, PXD ID: PXD000746. Experiment: label-free, file: 2012-10-05 - ETP - Fuchs - Control - 3-2.mgf. Published as part of J Proteome Res. 2014 May 21 . From the Abstract: {{i}} Fuchs- endothelial corneal dystrophy (FECD) is a major corneal disorder affecting the innermost part ...
ORGANISM(S): Homo_sapiens_viruses, Human 
GPM32310000394 | GPMDB
Resource Reanalysis 
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 
ProteomicsProteomics of Fuchs Endothelial Corneal Dystrophy support that the extracellular matrix of Descemet¹s membrane is Disordered
Fuchs’ endothelial corneal dystrophy is major corneal disorder in the western world affecting the innermost part of the cornea, which leads to visual impairment. The morphological changes observed in Fuchs’ endothelial corneal dystrophy is well described, however, much less in known of the pathology...
ORGANISM(S): Homo sapiens (Human) 
2014-05-27 | PXD000746 | Pride
Itraq quantification Fuchs' endothelial corneal dystrophy Xic quantification 
GenomicsA Genome-Wide Association Study of Fuchs' Endothelial Corneal Dystrophy (FECD)

Fuchs' Endothelial Corneal Dystrophy (FECD) is a common disease that results in loss of vision associated with progressive corneal edema and loss of corneal transparency. In the initial stages of the disease, excrescences on Descemet's membrane with the appearance of an abnormal posterior...

phs000421.v1.p1 | EGA
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 (Human) 
2016-02-19 | PXD001997 | Pride
Cornea Tripletof 5600+ Xic quantification 2d-page Granular corneal dystrophy 
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