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179 results on '"Barili, Valeria"'

1. Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases

Author

Vitetta, Giulia, Desiderio, Laura, Baccolini, Ilaria, Uliana, Vera, Lanzoni, Giulia, Ghi, Tullio, Pilu, Gianluigi, Ambrosini, Enrico, Caggiati, Patrizia, Barili, Valeria, Trotta, Anna Carmela, Liuti, Maria Rosaria, Malpezzi, Elisabetta, Pittalis, Maria Carla, and Percesepe, Antonio

Published
2024
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4. SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern

Author

Tonelli, Laura, Balla, Cristina, Farnè, Marianna, Margutti, Alice, Maniscalchi, Eugenia Tiziana, De Feo, Gaetano, Di Domenico, Assunta, De Raffele, Martina, Percesepe, Antonio, Uliana, Vera, Barili, Valeria, Serra, Walter, Sassone, Biagio, Virzì, Santo, De Maria, Elia, Parmeggiani, Giulia, Assenza, Gabriele Egidy, Biagini, Elena, Parisi, Vanda, Biffi, Mauro, Carinci, Valeria, Perugini, Enrica, Imbrici, Paola, Ferlini, Alessandra, Bertini, Matteo, Selvatici, Rita, and Gualandi, Francesca

Published
2023
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5. Deregulated intracellular pathways define novel molecular targets for HBV-specific CD8 T cell reconstitution in chronic hepatitis B

Author

Montali, Ilaria, Ceccatelli Berti, Camilla, Morselli, Marco, Acerbi, Greta, Barili, Valeria, Pedrazzi, Giuseppe, Montanini, Barbara, Boni, Carolina, Alfieri, Arianna, Pesci, Marco, Loglio, Alessandro, Degasperi, Elisabetta, Borghi, Marta, Perbellini, Riccardo, Penna, Amalia, Laccabue, Diletta, Rossi, Marzia, Vecchi, Andrea, Tiezzi, Camilla, Reverberi, Valentina, Boarini, Chiara, Abbati, Gianluca, Massari, Marco, Lampertico, Pietro, Missale, Gabriele, Ferrari, Carlo, and Fisicaro, Paola

Published
2023
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6. A patient with mosaic USP9X gene variant

Author

Barili, Valeria, Dall’Asta, Andrea, Uliana, Vera, Schera, Giovanni Battista Luca, Ormitti, Francesca, Romanini, Enzo, Micalizzi, Alessia, Magliozzi, Monia, Perrino, Daniele, Novelli, Antonio, Ghi, Tullio, and Percesepe, Antonio

Published
2022
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7. Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features.

Author

Uliana, Vera, Ambrosini, Enrico, Taiani, Antonietta, Cesarini, Sofia, Cannizzaro, Ilenia Rita, Negrotti, Anna, Serra, Walter, Quintavalle, Gabriele, Micale, Lucia, Fusco, Carmela, Castori, Marco, Martorana, Davide, Bortesi, Beatrice, Belli, Laura, Percesepe, Antonio, Pisani, Francesco, and Barili, Valeria

Subjects
NOONAN syndrome, JOINT hypermobility, RAS proteins, PARKINSON'S disease, PHENOTYPIC plasticity
Abstract

Leucine zipper-like transcription regulator 1 (LZTR1) acts as a negative factor that suppresses RAS function and MAPK signaling; mutations in this protein may dysregulate RAS ubiquitination and lead to impaired degradation of RAS superfamily proteins. Germline LZTR1 variants are reported in Noonan syndrome, either autosomal dominant or autosomal recessive, and in susceptibility to schwannomatosis. This article explores the genetic and phenotypic diversity of the autosomal dominant LZTR1-related disorders, compiling a cohort of previously published patients (51 with the Noonan phenotype and 123 with schwannomatosis) and presenting two additional adult-onset cases: a male with schwannomatosis and Parkinson's disease and a female with Noonan syndrome, generalized joint hypermobility, and breast cancer. This review confirms that autosomal dominant LZTR1-related disorders exhibit an extreme phenotypic variability, ranging from relatively mild manifestations to severe and multi-systemic involvement, and offers updated frequences of each clinical feature. The aim is to precisely define the clinical spectrum of LZTR1-related diseases, using also two new emblematic clinical cases. Gaining insight into the mechanisms underneath this variability is crucial to achieve precision diagnostics and the development of therapeutic interventions. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing

Author

Barili, Valeria, primary, Ambrosini, Enrico, additional, Bortesi, Beatrice, additional, Minari, Roberta, additional, De Sensi, Erika, additional, Cannizzaro, Ilenia Rita, additional, Taiani, Antonietta, additional, Michiara, Maria, additional, Sikokis, Angelica, additional, Boggiani, Daniela, additional, Tommasi, Chiara, additional, Serra, Olga, additional, Bonatti, Francesco, additional, Adorni, Alessia, additional, Luberto, Anita, additional, Caggiati, Patrizia, additional, Martorana, Davide, additional, Uliana, Vera, additional, Percesepe, Antonio, additional, Musolino, Antonino, additional, and Pellegrino, Benedetta, additional

Published
2024
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11. TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Author

Bocquet, Béatrice, primary, Borday, Caroline, additional, Erkilic, Nejla, additional, Mamaeva, Daria, additional, Donval, Alicia, additional, Masson-Garcia, Christel, additional, Parain, Karine, additional, Kaminska, Karolina, additional, Quinodoz, Mathieu, additional, Perea-Romero, Irene, additional, Garcia-Garcia, Gema, additional, Jimenez-Medina, Carla, additional, Boukhaddaoui, Hassan, additional, Coget, Arthur, additional, Leboucq, Nicolas, additional, Calzetti, Giacomo, additional, Gandolfi, Stefano A., additional, Percesepe, Antonio, additional, Barili, Valeria, additional, Uliana, Vera, additional, Delsante, Marco, additional, Bozzetti, Francesca, additional, Scholl, Hendrik P.N., additional, Corton, Marta, additional, Ayuso, Carmen, additional, Millan, Jose M., additional, Rivolta, Carlo, additional, Meunier, Isabelle, additional, Perron, Muriel, additional, and Kalatzis, Vasiliki, additional

Published
2023
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13. Targeting p53 and histone methyltransferases restores exhausted CD8+ T cells in HCV infection

Author

Barili, Valeria, Fisicaro, Paola, Montanini, Barbara, Acerbi, Greta, Filippi, Anita, Forleo, Giovanna, Romualdi, Chiara, Ferracin, Manuela, Guerrieri, Francesca, Pedrazzi, Giuseppe, Boni, Carolina, Rossi, Marzia, Vecchi, Andrea, Penna, Amalia, Zecca, Alessandra, Mori, Cristina, Orlandini, Alessandra, Negri, Elisa, Pesci, Marco, Massari, Marco, Missale, Gabriele, Levrero, Massimo, Ottonello, Simone, and Ferrari, Carlo

Published
2020
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14. Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.

Author

Gemignani, Franco, Percesepe, Antonio, Gualandi, Francesca, Allegri, Isabella, Bellanova, Maria Federica, Nuredini, Andi, Saccani, Elena, Ambrosini, Enrico, Barili, Valeria, and Uliana, Vera

Subjects
MYELIN proteins, CHARCOT-Marie-Tooth disease, NEUROPATHY, GENETIC variation, GENETIC testing
Abstract

Charcot–Marie–Tooth disease (CMT) rarely presents with painful symptoms, which mainly occur in association with myelin protein zero (MPZ) gene mutations. We aimed to further characterize the features of painful neuropathic phenotypes in MPZ-related CMT. We report on a 58-year-old woman with a longstanding history of intermittent migrant pain and dysesthesias. Examination showed minimal clinical signs of neuropathy along with mild changes upon electroneurographic examination, consistent with an intermediate pattern, and small-fiber loss upon skin biopsy. Genetic testing identified the heterozygous variant p.Trp101Ter in MPZ. We identified another 20 CMT patients in the literature who presented with neuropathic pain as a main feature in association with MPZ mutations, mostly in the extracellular MPZ domain; the majority of these patients showed late onset (14/20), with motor-nerve-conduction velocities predominantly in the intermediate range (12/20). It is hypothesized that some MPZ mutations could manifest with, or predispose to, neuropathic pain. However, the mechanisms linking MPZ mutations and pain-generating nerve changes are unclear, as are the possible role of modifier factors. This peculiar CMT presentation may be diagnostically misleading, as it is suggestive of an acquired pain syndrome rather than of an inherited neuropathy. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Supplementary Figure 2 from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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16. Data from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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17. Supplementary Figure 4 from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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18. Supplementary Figure 1 from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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19. Supplementary Figure 5 from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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20. Supplementary Figure 6 from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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21. Supplementary Figure 7 from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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22. Supplementary Tables 1-5 from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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23. Supplementary List 1 from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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24. Supplementary Figure 3 from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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25. Supplementary Methods from Gene Signatures Associated with Mouse Postnatal Hindbrain Neural Stem Cells and Medulloblastoma Cancer Stem Cells Identify Novel Molecular Mediators and Predict Human Medulloblastoma Molecular Classification

Author

Corno, Daniela, primary, Pala, Mauro, primary, Cominelli, Manuela, primary, Cipelletti, Barbara, primary, Leto, Ketty, primary, Croci, Laura, primary, Barili, Valeria, primary, Brandalise, Federico, primary, Melzi, Raffaella, primary, Di Gregorio, Alessandra, primary, Sergi, Lucia Sergi, primary, Politi, Letterio Salvatore, primary, Piemonti, Lorenzo, primary, Bulfone, Alessandro, primary, Rossi, Paola, primary, Rossi, Ferdinando, primary, Consalez, Gian Giacomo, primary, Poliani, Pietro Luigi, primary, and Galli, Rossella, primary

Published
2023
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26. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

Author

Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Mensenkamp, Arjen R., Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Haavind, Marianne Tveit, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P., Olderode-Berends, Maran J.W., Blatnik, Ana, Leter, Edward M., Evans, D. Gareth, Woodward, Emma R., Steinke-Lange, Verena, Anastasiadou, Violetta C., Colas, Chrystelle, Villy, Marie Charlotte, Benusiglio, Patrick R., Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M. Omer, van der Post, Rachel S., Schuurs-Hoeijmakers, Janneke H.M., Vos, Janet R., Duijkers, Floor, van Ierland, Yvette, Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Mensenkamp, Arjen R., Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Haavind, Marianne Tveit, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P., Olderode-Berends, Maran J.W., Blatnik, Ana, Leter, Edward M., Evans, D. Gareth, Woodward, Emma R., Steinke-Lange, Verena, Anastasiadou, Violetta C., Colas, Chrystelle, Villy, Marie Charlotte, Benusiglio, Patrick R., Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M. Omer, van der Post, Rachel S., Schuurs-Hoeijmakers, Janneke H.M., Vos, Janet R., Duijkers, Floor, and van Ierland, Yvette

Abstract

Background: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current risks are likely overestimated due to ascertainment bias. We aimed to provide more accurate and personalized cancer risks. Methods: This was a European, adult PHTS cohort study with data from medical files, registries, and/or questionnaires. Cancer risks and hazard ratios were assessed with Kaplan-Meier and Cox regression analyses, and standardized incidence ratios were calculated. Bias correction consisted of excluding cancer index cases and incident case analyses. Results: A total of 455 patients were included, including 50.5% index cases, 372 with prospective follow-up (median 6 years, interquartile range ¼ 3-10 years), and 159 of 281 females and 39 of 174 males with cancer. By age 60 years, PHTS-related cancer risk was higher in females (68.4% to 86.3%) than males (16.4% to 20.8%). Female BC risks ranged from 54.3% (95% confidence interval [CI] ¼ 43.0% to 66.4%) to 75.8% (95% CI ¼ 60.7% to 88.4%), with two- to threefold increased risks for PTEN truncating and approximately twofold for phosphatase domain variants. EC risks ranged from 6.4% (95% CI ¼ 2.1% to 18.6%) to 22.1% (95% CI ¼ 11.6% to 39.6%) and TC risks from 8.9% (95% CI ¼ 5.1% to 15.3%) to 20.5% (95% CI ¼ 11.3% to 35.4%). Colorectal cancer, renal cancer, and melanoma risks were each less than 10.0%. Conclusions: Females have a different BC risk depending on their PTEN germline variant. PHTS patients are predominantly at risk of BC (females), EC, and TC. This should be the main focus of surveillance. These lower, more unbiased and personalized risks provide guidance for optimized cancer risk management.

Published
2023

27. Phenotypic CD8 T cell profiling in chronic hepatitis B to predict HBV-specific CD8 T cell susceptibility to functional restoration in vitro.

Author

Rossi, Marzia, Vecchi, Andrea, Tiezzi, Camilla, Barili, Valeria, Fisicaro, Paola, Penna, Amalia, Montali, Ilaria, Daffis, Stephane, Fletcher, Simon P., Gaggar, Anuj, Medley, Jonathan, Graupe, Michael, Lad, Latesh, Loglio, Alessandro, Soffredini, Roberta, Borghi, Marta, Pollicino, Teresa, Musolino, Cristina, Alfieri, Arianna, and Brillo, Federica

Subjects
HEPATITIS B vaccines, T cells, ALANINE aminotransferase, CHRONIC hepatitis B, CD8 antigen, MONONUCLEAR leukocytes, T-cell exhaustion, HEPATITIS B
Published
2023
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29. Targeting mitochondrial dysfunction can restore antiviral activity of exhausted HBV-specific CD8 T cells in chronic hepatitis

Author

Fisicaro, Paola, Barili, Valeria, Montanini, Barbara, Acerbi, Greta, Ferracin, Manuela, Guerrieri, Francesca, Salerno, Debora, Boni, Carolina, Massari, Marco, Cavallo, M Cristina, Grossi, Glenda, Giuberti, Tiziana, Lampertico, Pietro, Missale, Gabriele, Levrero, Massimo, Ottonello, Simone, and Ferrari, Carlo

Subjects
CD8 lymphocytes -- Physiological aspects -- Health aspects, Hepatitis B virus -- Physiological aspects -- Health aspects, Mitochondrial diseases -- Care and treatment, Biological sciences, Health
Abstract

Hepatitis B virus (HBV)-specific CD8 T cells are functionally exhausted in chronic hepatitis B infection, and this condition can be corrected only partially through the modulation of inhibitory pathways, which suggests that a more complex molecular interplay underlies T cell exhaustion. To gain broader insight into this process and identify additional targets for the restoration of T cell function, we compared the transcriptome profiles of HBV-specific CD8 T cells from patients with acute and chronic disease with those of HBV-specific CD8 T cells from patients able to resolve HBV infection spontaneously and influenza (FLU)-specific CD8 T cells from healthy participants. The results indicate that exhausted HBV-specific CD8 T cells are markedly impaired at multiple levels and show substantial downregulation of various cellular processes centered on extensive mitochondrial alterations. A notable improvement of mitochondrial and antiviral CD8 functions was elicited by mitochondrion-targeted antioxidants, which suggests a central role for reactive oxygen species (ROS) in T cell exhaustion. Thus, mitochondria represent promising targets for novel reconstitution therapies to treat chronic hepatitis B infection., Author(s): Paola Fisicaro [1]; Valeria Barili [1]; Barbara Montanini [2]; Greta Acerbi [1]; Manuela Ferracin [3]; Francesca Guerrieri [4]; Debora Salerno [4]; Carolina Boni [1]; Marco Massari [5]; M Cristina [...]

Published
2017
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30. Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome

Author

Hendricks, Linda A J, Hoogerbrugge, Nicoline, Mensenkamp, Arjen R, Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Haavind, Marianne Tveit, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P, Olderode-Berends, Maran J W, Blatnik, Ana, Leter, Edward M, Evans, D Gareth, Woodward, Emma R, Steinke-Lange, Verena, Anastasiadou, Violetta C, Colas, Chrystelle, Villy, Marie-Charlotte, Benusiglio, Patrick R, Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M Omer, van der Post, Rachel S, Schuurs-Hoeijmakers, Janneke H M, Vos, Janet R, MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output, Human genetics, CCA - Cancer biology and immunology, and Cancer Center Amsterdam

Subjects
Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], Cancer Research, All institutes and research themes of the Radboud University Medical Center, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], SDG 3 - Good Health and Well-being, Oncology, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]
Abstract

Background PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current risks are likely overestimated due to ascertainment bias. We aimed to provide more accurate and personalized cancer risks. Methods This was a European, adult PHTS cohort study with data from medical files, registries, and/or questionnaires. Cancer risks and hazard ratios were assessed with Kaplan-Meier and Cox regression analyses, and standardized incidence ratios were calculated. Bias correction consisted of excluding cancer index cases and incident case analyses. Results A total of 455 patients were included, including 50.5% index cases, 372 with prospective follow-up (median 6 years, interquartile range = 3-10 years), and 159 of 281 females and 39 of 174 males with cancer. By age 60 years, PHTS-related cancer risk was higher in females (68.4% to 86.3%) than males (16.4% to 20.8%). Female BC risks ranged from 54.3% (95% confidence interval [CI] = 43.0% to 66.4%) to 75.8% (95% CI = 60.7% to 88.4%), with two- to threefold increased risks for PTEN truncating and approximately twofold for phosphatase domain variants. EC risks ranged from 6.4% (95% CI = 2.1% to 18.6%) to 22.1% (95% CI = 11.6% to 39.6%) and TC risks from 8.9% (95% CI = 5.1% to 15.3%) to 20.5% (95% CI = 11.3% to 35.4%). Colorectal cancer, renal cancer, and melanoma risks were each less than 10.0%. Conclusions Females have a different BC risk depending on their PTEN germline variant. PHTS patients are predominantly at risk of BC (females), EC, and TC. This should be the main focus of surveillance. These lower, more unbiased and personalized risks provide guidance for optimized cancer risk management.

Published
2022

31. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

Author

Hendricks, Linda AJ, Hoogerbrugge, Nicoline, Mensenkamp, Arjen R, Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Tveit Haavind, Marianne, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P, Olderode-Berends, Maran JW, Blatnik, Ana, Leter, Edward M, Evans, D Gareth, Woodward, Emma R, Steinke-Lange, Verena, Anastasiadou, Violetta C, Colas, Chrystelle, Villy, Marie-Charlotte, Benusiglio, Patrick R, Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M Omer, Van Der Post, Rachel S, Schuurs-Hoeijmakers, Janneke HM, PTEN Study Group, Vos, Janet R, Hendricks, Linda AJ [0000-0002-1008-0265], Hoogerbrugge, Nicoline [0000-0003-2393-8141], Mensenkamp, Arjen R [0000-0003-3805-877X], Brunet, Joan [0000-0003-1945-3512], Tischkowitz, Marc [0000-0002-7880-0628], Links, Thera P [0000-0001-5327-1718], Vos, Janet R [0000-0001-8802-7002], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Cohort Studies, PTEN Phosphohydrolase, Humans, Female, Prospective Studies, Thyroid Neoplasms, Middle Aged, Hamartoma Syndrome, Multiple, Kidney Neoplasms, Germ-Line Mutation
Abstract

BACKGROUND: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current risks are likely overestimated due to ascertainment bias. We aimed to provide more accurate and personalized cancer risks. METHODS: This was a European, adult PHTS cohort study with data from medical files, registries, and/or questionnaires. Cancer risks and hazard ratios were assessed with Kaplan-Meier and Cox regression analyses, and standardized incidence ratios were calculated. Bias correction consisted of excluding cancer index cases and incident case analyses. RESULTS: A total of 455 patients were included, including 50.5% index cases, 372 with prospective follow-up (median 6 years, interquartile range = 3-10 years), and 159 of 281 females and 39 of 174 males with cancer. By age 60 years, PHTS-related cancer risk was higher in females (68.4% to 86.3%) than males (16.4% to 20.8%). Female BC risks ranged from 54.3% (95% confidence interval [CI] = 43.0% to 66.4%) to 75.8% (95% CI = 60.7% to 88.4%), with two- to threefold increased risks for PTEN truncating and approximately twofold for phosphatase domain variants. EC risks ranged from 6.4% (95% CI = 2.1% to 18.6%) to 22.1% (95% CI = 11.6% to 39.6%) and TC risks from 8.9% (95% CI = 5.1% to 15.3%) to 20.5% (95% CI = 11.3% to 35.4%). Colorectal cancer, renal cancer, and melanoma risks were each less than 10.0%. CONCLUSIONS: Females have a different BC risk depending on their PTEN germline variant. PHTS patients are predominantly at risk of BC (females), EC, and TC. This should be the main focus of surveillance. These lower, more unbiased and personalized risks provide guidance for optimized cancer risk management.

Published
2022
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32. Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.

Author

Barili, Valeria, Ambrosini, Enrico, Uliana, Vera, Bellini, Melissa, Vitetta, Giulia, Martorana, Davide, Cannizzaro, Ilenia Rita, Taiani, Antonietta, De Sensi, Erika, Caggiati, Patrizia, Hilton, Sarah, Banka, Siddharth, and Percesepe, Antonio

Subjects
*GENETIC testing, *CHROMATIN-remodeling complexes, *MISSENSE mutation, *GENETIC variation, *RARE diseases
Abstract

Novel approaches to uncover the molecular etiology of neurodevelopmental disorders (NDD) are highly needed. Even using a powerful tool such as whole exome sequencing (WES), the diagnostic process may still prove long and arduous due to the high clinical and genetic heterogeneity of these conditions. The main strategies to improve the diagnostic rate are based on family segregation, re-evaluation of the clinical features by reverse-phenotyping, re-analysis of unsolved NGS-based cases and epigenetic functional studies. In this article, we described three selected cases from a cohort of patients with NDD in which trio WES was applied, in order to underline the typical challenges encountered during the diagnostic process: (1) an ultra-rare condition caused by a missense variant in MEIS2, identified through the updated Solve-RD re-analysis; (2) a patient with Noonan-like features in which the NGS analysis revealed a novel variant in NIPBL causing Cornelia de Lange syndrome; and (3) a case with de novo variants in genes involved in the chromatin-remodeling complex, for which the study of the epigenetic signature excluded a pathogenic role. In this perspective, we aimed to (i) provide an example of the relevance of the genetic re-analysis of all unsolved cases through network projects on rare diseases; (ii) point out the role and the uncertainties of the reverse phenotyping in the interpretation of the genetic results; and (iii) describe the use of methylation signatures in neurodevelopmental syndromes for the validation of the variants of uncertain significance. [ABSTRACT FROM AUTHOR]

Published
2023
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33. Targeting Stress Sensor Kinases in Hepatocellular Carcinoma-Infiltrating Human NK Cells as a Novel Immunotherapeutic Strategy for Liver Cancer

Author

Zecca, Alessandra, primary, Barili, Valeria, additional, Olivani, Andrea, additional, Biasini, Elisabetta, additional, Boni, Carolina, additional, Fisicaro, Paola, additional, Montali, Ilaria, additional, Tiezzi, Camilla, additional, Dalla Valle, Raffaele, additional, Ferrari, Carlo, additional, Cariani, Elisabetta, additional, and Missale, Gabriele, additional

Published
2022
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34. Reassessment of the NF1 Variants of Unknown Significance Found During the 20-Year Activity of a Genetics Diagnostic Laboratory

Author

Martorana, Davide, primary, Barili, Valeria, additional, Uliana, Vera, additional, Ambrosini, Enrico, additional, Riva, Matteo, additional, De Sensi, Erika, additional, Luppi, Elena, additional, Messina, Corinne, additional, Caleffi, Edoardo, additional, Pisani, Francesco, additional, and Percesepe, Antonio, additional

Published
2022
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35. Natural Killer Cell Phenotype Modulation and Natural Killer/T-Cell Interplay in Nucleos(t)ide Analogue-Treated Hepatitis e Antigen-Negative Patients With Chronic Hepatitis B

Author

Boni, Carolina, Lampertico, Pietro, Talamona, Lavinia, Giuberti, Tiziana, Invernizzi, Federica, Barili, Valeria, Fisicaro, Paola, Rossi, Marzia, Cavallo, Maria Cristina, Vecchi, Andrea, Pedrazzi, Giuseppe, Alfieri, Arianna, Colombo, Massimo, Missale, Gabriele, and Ferrari, Carlo

Published
2015
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39. Functional reconstitution of HBV-specific CD8 T cells by in vitro polyphenol treatment in chronic hepatitis B

Author

Acerbi, Greta, primary, Montali, Ilaria, additional, Ferrigno, Gennaro Domenico, additional, Barili, Valeria, additional, Schivazappa, Simona, additional, Alfieri, Arianna, additional, Laccabue, Diletta, additional, Loglio, Alessandro, additional, Borghi, Marta, additional, Massari, Marco, additional, Rossi, Marzia, additional, Vecchi, Andrea, additional, Penna, Amalia, additional, Boni, Carolina, additional, Missale, Gabriele, additional, Lampertico, Pietro, additional, Del Rio, Daniele, additional, Ferrari, Carlo, additional, and Fisicaro, Paola, additional

Published
2021
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41. Metabolic regulation of the HBV-specific T cell function

Author

Barili, Valeria, primary, Boni, Carolina, additional, Rossi, Marzia, additional, Vecchi, Andrea, additional, Zecca, Alessandra, additional, Penna, Amalia, additional, Missale, Gabriele, additional, Ferrari, Carlo, additional, and Fisicaro, Paola, additional

Published
2021
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43. Targeting p53 and histone methyltransferases to restore fully exhausted CD8+ T cells in human HCV infection before and after DAA-therapy

Author

Barili, Valeria, primary, Fisicaro, Paola, additional, Montanini, Barbara, additional, Acerbi, Greta, additional, Filippi, Anita, additional, Zecca, Alessandra, additional, Boni, Carolina, additional, Romualdi, Chiara, additional, Ferracin, Manuela, additional, Guerrieri, Francesca, additional, Orlandini, Alessandra, additional, Massari, Marco, additional, Missale, Gabriele, additional, Levrero, Massimo, additional, Ottonello, Simone, additional, and Ferrari, Carlo, additional

Published
2020
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45. Pathogenetic Mechanisms of T Cell Dysfunction in Chronic HBV Infection and Related Therapeutic Approaches

Author

Fisicaro, Paola, primary, Barili, Valeria, additional, Rossi, Marzia, additional, Montali, Ilaria, additional, Vecchi, Andrea, additional, Acerbi, Greta, additional, Laccabue, Diletta, additional, Zecca, Alessandra, additional, Penna, Amalia, additional, Missale, Gabriele, additional, Ferrari, Carlo, additional, and Boni, Carolina, additional

Published
2020
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46. Pemetrexed Enhances Membrane PD-L1 Expression and Potentiates T Cell-Mediated Cytotoxicity by Anti-PD-L1 Antibody Therapy in Non-Small-Cell Lung Cancer

Author

Cavazzoni, Andrea, primary, Digiacomo, Graziana, additional, Alfieri, Roberta, additional, La Monica, Silvia, additional, Fumarola, Claudia, additional, Galetti, Maricla, additional, Bonelli, Mara, additional, Cretella, Daniele, additional, Barili, Valeria, additional, Zecca, Alessandra, additional, Giovannetti, Elisa, additional, Fiorentino, Michelangelo, additional, Tiseo, Marcello, additional, Petronini, Pier Giorgio, additional, and Ardizzoni, Andrea, additional

Published
2020
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49. Combined GS-4774 and Tenofovir Therapy Can Improve HBV-Specific T-Cell Responses in Patients With Chronic Hepatitis

Author

Boni, Carolina, primary, Janssen, Harry L.A., additional, Rossi, Marzia, additional, Yoon, Seung Kew, additional, Vecchi, Andrea, additional, Barili, Valeria, additional, Yoshida, Eric M., additional, Trinh, Huy, additional, Rodell, Timothy C., additional, Laccabue, Diletta, additional, Alfieri, Arianna, additional, Brillo, Federica, additional, Fisicaro, Paola, additional, Acerbi, Greta, additional, Pedrazzi, Giuseppe, additional, Andreone, Pietro, additional, Cursaro, Carmela, additional, Margotti, Marzia, additional, Santoro, Rosanna, additional, Piazzolla, Valeria, additional, Brunetto, Maurizia R., additional, Coco, Barbara, additional, Cavallone, Daniela, additional, Zhao, Yang, additional, Joshi, Adarsh, additional, Woo, Jacky, additional, Lau, Audrey H., additional, Gaggar, Anuj, additional, Subramanian, G. Mani, additional, Massetto, Benedetta, additional, Fung, Scott, additional, Ahn, Sang Hoon, additional, Ma, Xiaoli, additional, Mangia, Alessandra, additional, and Ferrari, Carlo, additional

Published
2019
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