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10.1038/ejhg.2017.4

http://scihub22266oqcxt.onion/10.1038/ejhg.2017.4
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C5437911!5437911!28145428
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suck abstract from ncbi


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pmid28145428      Eur+J+Hum+Genet 2017 ; 25 (5): 582-90
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  • Collagen synthesis disruption and downregulation of core elements of TGF-?, Hippo, and Wnt pathways in keratoconus corneas #MMPMID28145428
  • Kabza M; Karolak JA; Rydzanicz M; Szcze?niak MW; Nowak DM; Ginter-Matuszewska B; Polakowski P; Ploski R; Szaflik JP; Gajecka M
  • Eur J Hum Genet 2017[May]; 25 (5): 582-90 PMID28145428show ga
  • 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.
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