2026-04-13T14:19:26Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1223912025-12-05T09:34:43Zcom_2072_1057col_2072_478798col_2072_478799col_2072_478916col_2072_478917

00925njm 22002777a 4500 dc Berdasco, María author Gómez, Antonio author Rubio, Marcos J. author Català-Mora, Jaume author Zanón-Moreno, Vicente author Lopez, Miguel author Hernández-Munain, Cristina author Yoshida, Shigeo author Nakama, Takahito author Ishikawa, Keijiro author Ishibashi, Tatsuro author Boubekeur, Amina M. author Louhibi, Lotfi author Pujana Genestar, M. Ángel author Sayols, Sergi author Setién, Fernando author Corella Piquer, Dolores author Torres Gómez-Pallete, Carmen de author Parareda Sallés, Andreu author Mora Graupera, Jaume author Zhao, Ling author Zhang, Kang author Lleonart, Matilde E. author Alonso, Javier author Simó, Rafael author Caminal Mitjana, Josep Maria author Esteller, Manel author 2018-05-16T08:05:13Z 2018-05-16T08:05:13Z 2017-09-18 2018-05-16T08:05:14Z This work provides a comprehensive CpG methylation landscape of the different layers of the human eye that unveils the gene networks associated with their biological functions and how these are disrupted in common visual disorders. Herein, we firstly determined the role of CpG methylation in the regulation of ocular tissue-specification and described hypermethylation of retinal transcription factors (i.e., PAX6, RAX, SIX6) in a tissue-dependent manner. Second, we have characterized the DNA methylome of visual disorders linked to internal and external environmental factors. Main conclusions allow certifying that crucial pathways related to Wnt-MAPK signaling pathways or neuroinflammation are epigenetically controlled in the fibrotic disorders involved in retinal detachment, but results also reinforced the contribution of neurovascularization (ETS1, HES5, PRDM16) in diabetic retinopathy. Finally, we had studied the methylome in the most frequent intraocular tumors in adults and children (uveal melanoma and retinoblastoma, respectively). We observed that hypermethylation of tumor suppressor genes is a frequent event in ocular tumors, but also unmethylation is associated with tumorogenesis. Interestingly, unmethylation of the proto-oncogen RAB31 was a predictor of metastasis risk in uveal melanoma. Loss of methylation of the oncogenic mir-17-92 cluster was detected in primary tissues but also in blood from patients. ADN Metilació Càncer Oftalmologia Ull DNA Methylation Cancer Ophthalmology Eye DNA methylomes reveal biological networks involved in human eye development, functions and associated disorders