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Collagen synthesis disruption and downregulation of core elements of TGF-?, Hippo, and Wnt pathways in keratoconus corneas.


ABSTRACT: To understand better the factors contributing to keratoconus (KTCN), we performed comprehensive transcriptome profiling of human KTCN corneas for the first time using an RNA-Seq approach. Twenty-five KTCN and 25 non-KTCN corneas were enrolled in this study. After RNA extraction, total RNA libraries were prepared and sequenced. The discovery RNA-Seq analysis (in eight KTCN and eight non-KTCN corneas) was conducted first, after which the replication RNA-Seq experiment was performed on a second set of samples (17 KTCN and 17 non-KTCN corneas). Over 82% of the genes and almost 75% of the transcripts detected as differentially expressed in KTCN and non-KTCN corneas were confirmed in the replication study using another set of samples. We used these differentially expressed genes to generate a network of KTCN-deregulated genes. We found an extensive disruption of collagen synthesis and maturation pathways, as well as downregulation of the core elements of the TGF-?, Hippo, and Wnt signaling pathways influencing corneal organization. This first comprehensive transcriptome profiling of human KTCN corneas points further to a complex etiology of KTCN.

SUBMITTER: Kabza M 

PROVIDER: S-EPMC5437911 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas.

Kabza Michal M   Karolak Justyna A JA   Rydzanicz Malgorzata M   Szcześniak Michał W MW   Nowak Dorota M DM   Ginter-Matuszewska Barbara B   Polakowski Piotr P   Ploski Rafal R   Szaflik Jacek P JP   Gajecka Marzena M  

European journal of human genetics : EJHG 20170201 5


To understand better the factors contributing to keratoconus (KTCN), we performed comprehensive transcriptome profiling of human KTCN corneas for the first time using an RNA-Seq approach. Twenty-five KTCN and 25 non-KTCN corneas were enrolled in this study. After RNA extraction, total RNA libraries were prepared and sequenced. The discovery RNA-Seq analysis (in eight KTCN and eight non-KTCN corneas) was conducted first, after which the replication RNA-Seq experiment was performed on a second set  ...[more]

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