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Homo sapiens

ABSTRACT: RNA Missplicing in Fuchs Endothelial Corneal Dystrophy

PROVIDER: PRJNA395734 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR5866121_1.fastq.gz	Fastqsanger.gz
	SRR5866121_2.fastq.gz	Fastqsanger.gz
	SRR5866122_1.fastq.gz	Fastqsanger.gz
	SRR5866122_2.fastq.gz	Fastqsanger.gz
	SRR5866123_1.fastq.gz	Fastqsanger.gz

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Proteomics of Fuchs Endothelial Corneal Dystrophy support that the extracellular matrix of Descemet¹s membrane is Disordered

Project description: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 at the molecular level. As the morphological changes observed in the cornea is profound in the extracellular matrix we sought to determine in protein profiles and changes herein in the Descement’s membrane and endothelium layer of Fuchs’ endothelial conrneal dystrophy patients when compared to healthy control tissue. Using the extracted ion chromatogram label-free MS based quantification method we quantified approximately the 50 most abundant proteins of the Descemet’s membrane and endothelial layer in in patient and control tissue. In addition, using the isobaric tag for relative and absolute quantification MS method resulted in a total of 22 regulated proteins of which the majority were extracellular proteins known to be involved in proper assembly and modulation of the basement membrane in other tissues. Many of the regulated proteins were furthermore among the most abundant proteins quantified. The two MS methods performed here suggest altered arrangement of the extracellular matrix in Fuchs’ endothelial corneal dystrophy and provide new candidate proteins that may be involved in molecular mechanism of this disease.

2014-05-27 | PXD000746 | Pride

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Project description:GWAS of Fuchs Endothelial Corneal Dystrophy at CIDR

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Project description:GWAS of Fuchs Endothelial Corneal Dystrophy at CIDR

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RNA Misplicing in Fuchs Endothelial Corneal Dystrophy II

Project description:RNA Misplicing in Fuchs Endothelial Corneal Dystrophy II

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Project description:Comprehensive characterization of DNA methylation changes in Fuchs Endothelial Corneal Dystrophy

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Project description:Transcriptome dataset of human corneal endothelium derived from patients with Fuchs endothelial corneal dystrophy

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Gene expression in Fuchs endothelial corneal dystrophy and healthy cultured cells

Project description:Fuchs endothelial corneal dystrophy (FECD) is a vision impairing pathology affecting the endothelial cells of the cornea. To better understand the disease, we developed a method to cultivate FECD cells isolated from surgical specimens. Using gene profiling, we compared the mRNA profiles of passage 2 FECD cells with passage 2 non-pathological corneal endothelial cells isolated from eye bank donor corneas.

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Gene expression in Fuchs endothelial corneal dystrophy

Project description:Gene expression in Fuchs endothelial corneal dystrophy

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Proteomic analysis of Descemet's membrane with corneal endothelial cells derived from patients with Fuchs endothelial corneal dystrophy and healthy control subjects

Project description:This dataset contains proteomic profiles of Descemet's membrane (DM) with corneal endothelial cells derived from patients with Fuchs endothelial corneal dystrophy (FECD) and non-FECD subjects by shotgun proteomics. FECD is the most common inherited corneal disease. Fibrillar focal excrescences, called guttae, and corneal edema due to corneal endothelial cell death result in progressive vision loss. Our dataset indicated that 32 distinctive molecules were expressed only in the FECD-DM but not in the DM of the control subject, possibly having important roles in the pathophysiology of FECD.

2023-01-17 | MSV000091078 | MassIVE

Project description:Corneal endothelium transcriptome profiling of patients with Fuchs endothelial corneal dystrophy

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