Project description:We compared the transcriptome of keratoconus and control epithelium using RNA-Seq. Epithelial tissues were obtained prior to surgery from keratoconus and myopia control patients, undergoing collagen cross-linking and photorefractive keratectomy, respectively. We identified major differences in keratoconus linked to cell-cell communication, cell signalling and cellular metabolism. The genes associated with the Hedgehog, Wnt and Notch1 signaling pathways were down-regulated in keratoconus.
Project description:Renal cell carcinomas are often resistant to conventional cytotoxic agents. Xenograft models are used for in vivo preclinical studies and drug development. The validity of these studies is highly dependent on the phenotypic and genotypic stability of the models. We evaluated the stability of six kidney tumors xenografted in nude/NMRI mice. We compared the initial sample (P0), 1st (P1) and 5th (P5) passages for the following criteria: histopathological analysis, immunohistochemistry for CK7, CD10, vimentin and p53, and DNA analysis with 10 microsatellites. We also performed CGH-array and we compared the sensitivity to sunitinib with tumor response in patients. The six xenografted tumors showed no difference between the morphology of the primary tumor and that of the xenografted tumor at P1 and P5 but we observed differences for CK7 expression in one case and for p53 expression in another. Out of 44 P0-P1-P5 groups with fully available microsatellite data, 29 (66%) showed no significant difference from P0 to P5 while 15 (34%) showed new or lost alleles. In CGH-array, genomic alterations at P5 were close to those already present in the initial tumor. We also observed similarity between the models and the patients for response to antiangiogenic treatment. We showed that the six xenograft models were phenotypically and genotypically stable across passages and showed similarity with response to treatment in patients.
Project description:Transcriptional analysis of human keratoconus compared differentiated expression between normal and cone corneas. m6a modification plays an as yet unclear role in cone corneas, and here we aim to identify variations in m6a modification in cone corneas and the potential role it plays.
Project description:The gene expression profile of various cell signaling pathway associated genes were compared between the different clinical grades of keratoconus corneal epithelium, controls