Accès ouvert
2026
article
OpenAlex
Davide Vecchiotti, Mauro Di Vito Nolfi, Chiara Compagnoni, Martina Sara Miscione et autres
Abstract Glaucoma is a neurodegenerative condition characterised by the progressive loss of retinal ganglion cells (RGCs) and irreversible vision impairment and one of the leading causes of blindness worldwide. Current treatments primarily focus on reducing intraocular pressure (IOP), yet many patients continue …
it, gb
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Accès ouvert
2026
article
OpenAlex
Irene Flati, Davide Vecchiotti, Fiorenza Di Giovanni, Daniela Verzella et autres
Abstract Background Platinum-resistant high-grade serous ovarian carcinoma (HGSOC) is a major clinical challenge, with high mortality rates and no effective therapeutic options. Metabolic adaptations—including enhanced lipid catabolism, oxidative phosphorylation (OXPHOS), and autophagy—are major drivers of chemoresistance; however, the molecular mechanisms underpinning this …
it, gb
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Accès ouvert
2026
article
OpenAlex
Francesca Veglianti, Mauro Di Vito Nolfi, Irene Flati, Francesca Dall’Aglio et autres
Glaucoma is a complex neurodegenerative disease characterized by the progressive loss of retinal ganglion cells (RGCs) and optic nerve damage. Both mechanical and vascular factors are believed to contribute to the etiology of glaucoma. However, the underlying pathogenic mechanisms are not yet …
it
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Accès ouvert
2025
article
OpenAlex
Veronica Zelli, Alessandra Corrente, Chiara Compagnoni, Francesco Colaianni et autres
Background/Objectives: Pancreatic cancer (PC) is among the most aggressive malignancies, often diagnosed at late stages. MicroRNAs (miRNAs) and proteins released from the tumor microenvironment into body fluids represent promising non-invasive biomarkers for early cancer detection. In this study, we took advantage of …
it
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Accès ouvert
2024
article
OpenAlex
Davide Vecchiotti, Mauro Di Vito Nolfi, Francesca Veglianti, Francesca Dall’Aglio et autres
Background/Objectives: Bioprinting is an innovative technology in tissue engineering, enabling the creation of complex biological structures. This study aims to develop a three-dimensional (3D) bioprinted model of Müller cells (MCs) to enhance our understanding of their physiological and pathological roles in the …
it
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Accès ouvert
2024
article
OpenAlex
Francesco Colaianni, Veronica Zelli, Chiara Compagnoni, Martina Sara Miscione et autres
miR-122 is the most abundant microRNA (miRNA) in the liver; it regulates several genes mainly involved in cell metabolism and inflammation. Host factors, diet, metabolic disorders and viral infection promote the development of liver diseases, including hepatocellular carcinoma (HCC). The downregulation of …
it
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Accès ouvert
2024
article
OpenAlex
Andrea Bianchi, Veronica Zelli, Andrea D’Angelo, Alessandro Di Matteo et autres
Abstract In the rapidly evolving field of genomics, understanding the genetic basis of complex diseases like breast cancer, particularly its familial/hereditary forms, is crucial. Current methods often examine genomic variants—such as Single Nucleotide Variants (SNVs), insertions/deletions (Indels), and Copy Number Variations (CNVs)—separately, …
it, gr
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Accès ouvert
2024
article
OpenAlex
Azzurra Irelli, Leonardo Valerio Patruno, Sofia Chiatamone Ranieri, Sara Malatesta et autres
Hereditary breast and ovarian cancer (HBOC) syndrome is responsible for approximately 10% of breast cancers (BCs). The HBOC gene panel includes both high-risk genes, i.e., a four times higher risk of BC (BRCA1, BRCA2, PALB2, CDH1, PTEN, STK11 and TP53), and moderate-risk …
it
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Accès ouvert
2024
article
OpenAlex
Azzurra Irelli, Laura Ceriello, Leonardo Valerio Patruno, Alessandra Tessitore et autres
Pertuzumab and trastuzumab have been shown to improve the outcomes of patients with metastatic breast cancer, with a rate of left ventricular dysfunction of approximately 6%. We report the case of a postmenopausal woman who presented with Takotsubo syndrome during maintenance therapy …
it
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Accès ouvert
2023
article
OpenAlex
Vincenzo Salpietro, Reza Maroofian, Maha S. Zaki, Jamie R Wangen et autres
The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has …
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Accès ouvert
2023
article
OpenAlex
Veronica Zelli, Andrea Manno, Chiara Compagnoni, Rasheed Ibraheem et autres
BACKGROUND: Machine learning (ML) represents a powerful tool to capture relationships between molecular alterations and cancer types and to extract biological information. Here, we developed a plain ML model aimed at distinguishing cancer types based on genetic lesions, providing an additional tool …
it
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Accès ouvert
2023
article
OpenAlex
Irene Flati, Mauro Di Vito Nolfi, Francesca Dall’Aglio, Davide Vecchiotti et autres
Metabolism and the immunological state are intimately intertwined, as defense responses are bioenergetically expensive. Metabolic homeostasis is a key requirement for the proper function of immune cell subsets, and the perturbation of the immune-metabolic balance is a recurrent event in many human …
it
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