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Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa

Donato Concetta Scimone Simona Alibrandi Carmela Rinaldi Antonina Sidoti Rosalia D'Angelo Long non-coding RNAs (lncRNAs) are untranslated transcripts which regulate many biological processes. Changes

CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study

Background Cerebral cavernous malformations (CCMs) are vascular anomalies of the nervous system mostly located in the brain presenting sporadically or familial. Causes of familial forms are mutations in CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10) genes. Sporadic forms with no affected relative most often have only one lesion and no germ line mutations. However, a number of...

A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopigments in retinal pigment epithelium. Five loci have been linked to RPA onset. Among these, the retinaldehyde-binding protein 1 gene, RLBP1, is the most frequently involved...

Air pollution and health

benzopyrene as biological markers of Euo MARCHESI exposure to vehicle exhausts and nitrous FRANCO VELONA compounds to mark exposure to NOx? LUIGI DONATO We shall score DNA lesions (sister chro? CNR Institute of

New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies

During the last (15) years, improved omics sequencing technologies have expanded the scale and resolution of various biological applications, generating high-throughput datasets that require carefully chosen software tools to be processed. Therefore, following the sequencing development, bioinformatics researchers have been challenged to implement alignment algorithms for next...

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment

critical discussions and for assistance in the writing of the manuscript. Data curation: Luigi Donato. Formal analysis: Alessandro Calamuneri. Investigation: Luigi Donato. Methodology: Luigi Donato ... . Project administration: Antonina Sidoti. Resources: Luigi Donato. Software: Luigi Donato, Concetta Scimone, Alessandro Calamuneri. Supervision: Antonina Sidoti. Validation: Simona Alibrandi, Concetta