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18 results on '"Bruno, Sabina Maria"'

1. Correction to: L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fbrosis patient-derived air–liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients

Author

Lo Cicero, Stefania, Castelli, Germana, Blaconà, Giovanna, Bruno, Sabina Maria, Sette, Giovanni, Pigliucci, Riccardo, Villella, Valeria Rachela, Esposito, Speranza, Zollo, Immacolata, Spadaro, Francesca, De Maria, Ruggero, Biffoni, Mauro, Cimino, Giuseppe, Amato, Felice, Lucarelli, Marco, and Eramo, Adriana

Published
2023
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2. L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fibrosis patient-derived air–liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients

Author

Lo Cicero, Stefania, Castelli, Germana, Blaconà, Giovanna, Bruno, Sabina Maria, Sette, Giovanni, Pigliucci, Riccardo, Villella, Valeria Rachela, Esposito, Speranza, Zollo, Immacolata, Spadaro, Francesca, Maria, Ruggero De, Biffoni, Mauro, Cimino, Giuseppe, Amato, Felice, Lucarelli, Marco, and Eramo, Adriana

Published
2023
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3. Quantitative Evaluation of CFTR Gene Expression: A Comparison between Relative Quantification by Real-Time PCR and Absolute Quantification by Droplet Digital PCR

Author

Bruno, Sabina Maria, primary, Blaconà, Giovanna, additional, Lo Cicero, Stefania, additional, Castelli, Germana, additional, Virgulti, Mariarita, additional, Testino, Giancarlo, additional, Pierandrei, Silvia, additional, Fuso, Andrea, additional, Cimino, Giuseppe, additional, Ferraguti, Giampiero, additional, Eramo, Adriana, additional, and Lucarelli, Marco, additional

Published
2023
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4. Characteristic Hallmarks of Aging and the Impact on Carcinogenesis

Author

Fiore, Marco, primary, Terracina, Sergio, additional, Ferraguti, Giampiero, additional, Petrella, Carla, additional, Bruno, Sabina Maria, additional, Blaconà, Giovanna, additional, Di Certo, Maria Grazia, additional, Minni, Antonio, additional, Greco, Antonio, additional, Musacchio, Angela, additional, Ralli, Massimo, additional, Tarani, Luigi, additional, Ceccanti, Mauro, additional, Polimeni, Antonella, additional, and Triaca, Viviana, additional

Published
2023
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5. Sperm DNA Fragmentation and Sperm-Borne miRNAs: Molecular Biomarkers of Embryo Development?

Author

Conflitti, Anna Chiara, primary, Cicolani, Gaia, additional, Buonacquisto, Alessandra, additional, Pallotti, Francesco, additional, Faja, Fabiana, additional, Bianchini, Serena, additional, Blaconà, Giovanna, additional, Bruno, Sabina Maria, additional, Linari, Antonella, additional, Lucarelli, Marco, additional, Montanino, Diletta, additional, Muzii, Ludovico, additional, Lenzi, Andrea, additional, Lombardo, Francesco, additional, and Paoli, Donatella, additional

Published
2023
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8. Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells

Author

Sette, Giovanni, primary, Lo Cicero, Stefania, additional, Blaconà, Giovanna, additional, Pierandrei, Silvia, additional, Bruno, Sabina Maria, additional, Salvati, Valentina, additional, Castelli, Germana, additional, Falchi, Mario, additional, Fabrizzi, Benedetta, additional, Cimino, Giuseppe, additional, De Maria, Ruggero, additional, Biffoni, Mauro, additional, Eramo, Adriana, additional, and Lucarelli, Marco, additional

Published
2021
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9. Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells

Author

Sette, Giovanni, Cicero, S. L., Blacona, G., Pierandrei, S., Bruno, Sabina Maria, Salvati, Valentina, Castelli, Andrea Giuliano, Falchi, M., Fabrizzi, B., Cimino, Giovanni, De Maria Marchiano, Ruggero, Biffoni, M., Eramo, A., Lucarelli, M., Sette G., Bruno S. M., Salvati V., Castelli G., Cimino G., De Maria R. (ORCID:0000-0003-2255-0583), Sette, Giovanni, Cicero, S. L., Blacona, G., Pierandrei, S., Bruno, Sabina Maria, Salvati, Valentina, Castelli, Andrea Giuliano, Falchi, M., Fabrizzi, B., Cimino, Giovanni, De Maria Marchiano, Ruggero, Biffoni, M., Eramo, A., Lucarelli, M., Sette G., Bruno S. M., Salvati V., Castelli G., Cimino G., and De Maria R. (ORCID:0000-0003-2255-0583)

Abstract

Question Cystic fibrosis (CF) is due to pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recent improvements have enabled pharmacological therapy aiming at restoring mutated CFTR expression and function. CFTR "modulators"have revolutionised the CF therapeutic landscape, particularly the last approved, Trikafta. This drug combination is indicated by the United States Food and Drug Administration and very recently by the European Medicines Agency for genotypes carrying at least one copy of CFTR with the F508del pathogenic variant. However, several genotypes are not yet eligible for Trikafta treatment. Materials/patients and methods We exploited an innovative cellular approach allowing highly efficient in vitro expansion of airway epithelial stem cells (AESCs) through conditional reprogramming from nasal brushing of CF patients. This approach, coupled to the development of AESC-derived personalised disease models, as organoids and air-liquid interface (ALI) cultures, revealed highly suitable for CFTR pharmacological testing. Results and answer to the question We fully validated the experimental models and implemented the CFTR functional assays and biochemical CFTR protein characterisation, which allowed the evaluation of the efficacy of clinically available modulators in restoring CFTR maturation and function of each patientderived "avatar"(theratyping). F508del homozygous genotypes, used as controls, confirmed the higher clinical activity of Trikafta in comparison with older modulators. In addition, Trikafta showed its efficacy on three rare genotypes previously not eligible for treatment with modulators, opening the way to clinical translation. Finally, encouraging results for innovative drug combinations were obtained.

Published
2021

15. A New Targeted CFTRMutation Panel Based on Next-Generation Sequencing Technology

Author

Lucarelli, Marco, Porcaro, Luigi, Biffignandi, Alice, Costantino, Lucy, Giannone, Valentina, Alberti, Luisella, Bruno, Sabina Maria, Corbetta, Carlo, Torresani, Erminio, Colombo, Carla, and Seia, Manuela

Abstract

Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy. The large number of mutations and genetic and phenotypic variability make this search a complex task. Herein, we developed, validated, and tested a laboratory assay for an extended search for mutations in CFTRusing a next-generation sequencing–based method, with a panel of 188 CFTRmutations customized for the Italian population. Overall, 1426 dried blood spots from neonatal screening, 402 genomic DNA samples from various origins, and 1138 genomic DNA samples from patients with CF were analyzed. The assay showed excellent analytical and diagnostic operative characteristics. We identified and experimentally validated 159 (of 188) CFTRmutations. The assay achieved detection rates of 95.0% and 95.6% in two large-scale case series of CF patients from central and northern Italy, respectively. These detection rates are among the highest reported so far with a genetic test for CF based on a mutation panel. This assay appears to be well suited for diagnostics, neonatal and carrier screening, and assisted reproduction, and it represents a considerable advantage in CF genetic counseling.

Published
2017
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17. A new complex allele of the CFTRgene partially explains the variable phenotype of the L997F mutation

Author

Lucarelli, Marco, Narzi, Lorena, Pierandrei, Silvia, Bruno, Sabina Maria, Stamato, Antonella, D'Avanzo, Miriam, Strom, Roberto, and Quattrucci, Serena

Abstract

To evaluate the role of complex alleles, with two or more mutations in cisposition, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in the definition of the genotype-phenotype relationship in cystic fibrosis (CF), and to evaluate the functional significance of the highly controversial L997F CFTRmutation.

Published
2010
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18. Characteristic Hallmarks of Aging and the Impact on Carcinogenesis.

Author

Terracina S, Ferraguti G, Petrella C, Bruno SM, Blaconà G, Di Certo MG, Minni A, Greco A, Musacchio A, Ralli M, Tarani L, Ceccanti M, Polimeni A, Triaca V, and Fiore M

Subjects
Humans, Cellular Senescence, Oxidative Stress, Telomere, Carcinogenesis, Aging genetics, Neoplasms genetics
Abstract

Evidence shows that there is a synergistic, bidirectional association between cancer and aging with many shared traits. Age itself is a risk factor for the onset of most cancers, while evidence suggests that cancer and its treatments might accelerate aging by causing genotoxic and cytotoxic insults. Aging has been associated with a series of alterations that can be linked to cancer: i) genomic instability caused by DNA damage or epigenetic alterations coupled with repair errors, which lead to progressive accumulation of mutations; ii) telomere attrition with possible impairment of telomerase, shelterin complex, or the trimeric complex (Cdc13, Stn1 and Ten1 - CST) activities associated with abnormalities in DNA replication and repair; iii) altered proteostasis, especially when leading to an augmented proteasome, chaperon and autophagy-lysosome activity; iv) mitochondrial dysfunction causing oxidative stress; v) cellular senescence; vi) stem cells exhaustion, intercellular altered communication and deregulated nutrient sensing which are associated with microenvironmental modifications which may facilitate the subsequential role of cancer stem cells. Nowadays, anti-growth factor agents and epigenetic therapies seem to assume an increasing role in fighting aging-related diseases, especially cancer. This report aims to discuss the impact of age on cancer growth., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Published
2023
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