Zobrazeno 1 - 10 of 720 pro vyhledávání: '"ARETINI A"'
1
Akademický článek
Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death
Autor: Martina Modena, Alberto Giannoni, Alberto Aimo, Paolo Aretini, Nicoletta Botto, Simona Vittorini, Andrea Scatena, Diana Bonuccelli, Marco Di Paolo, Michele Emdin
Publikováno v: Human Genomics, Vol 18, Iss 1, Pp 1-18 (2024)
Abstract Background Juvenile sudden cardiac death (SCD) remains unexplained in approximately 40% of cases, leading to a significant emotional burden for the victims’ families and society. Comprehensive investigations are essential to uncover its el
Externí odkaz: https://doaj.org/article/cc80cff76de340ce8860c84178dcae7f
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2
Akademický článek
Comparative analysis of genetic variants in pleural fluids and solid tissue biopsies of pleural mesothelioma patients: Implications for molecular heterogeneity assessment
Autor: Roberto Silvestri, Filomena Rea, Marianna Vitiello, Gabriele Moretti, Vittorio Aprile, Marco Lucchi, Paolo Aretini, Chiara Maria Mazzanti, Stefano Landi, Federica Gemignani
Publikováno v: Heliyon, Vol 10, Iss 11, Pp e32152- (2024)
Objectives: This study aims to determine whether the sequencing of DNA extracted from pleural fluids (PFs) of Pleural Mesothelioma (PM) patients accurately represents the genetic information obtained from the solid tissue counterpart biopsies with pa
Externí odkaz: https://doaj.org/article/4e2a57cd4d2047b8b378ebb94f5af9b0
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4
Akademický článek
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5
Akademický článek
Exploring Regorafenib Responsiveness and Uncovering Molecular Mechanisms in Recurrent Glioblastoma Tumors through Longitudinal In Vitro Sampling
Autor: Mariangela Morelli, Francesca Lessi, Sara Franceschi, Gianmarco Ferri, Manuel Giacomarra, Michele Menicagli, Carlo Gambacciani, Francesco Pieri, Francesco Pasqualetti, Nicola Montemurro, Paolo Aretini, Orazio Santo Santonocito, Anna Luisa Di Stefano, Chiara Maria Mazzanti
Publikováno v: Cells, Vol 13, Iss 6, p 487 (2024)
Glioblastoma, a deadly brain tumor, shows limited response to standard therapies like temozolomide (TMZ). Recent findings from the REGOMA trial underscore a significant survival improvement offered by Regorafenib (REGO) in recurrent glioblastoma. Our
Externí odkaz: https://doaj.org/article/cb05bb8548ac4d87af3236dc9cdad224
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7
Akademický článek
The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.
Autor: Aretini, Paolo1 (AUTHOR) aldo.pastore@sns.it, Presciuttini, Silvano2 (AUTHOR) silvano.presciuttini@gmail.com, Pastore, Aldo1,3 (AUTHOR), Galli, Alvaro4 (AUTHOR) alvaro.galli@cnr.it, Panepinto, Sara5 (AUTHOR) sarapanepinto92@gmail.com, Tancredi, Mariella5 (AUTHOR) mariella.tancredi@ao-pisa.toscana.it, Ghilli, Matteo6 (AUTHOR) m.ghilli@ao-pisa.toscana.it, Guglielmi, Chiara5 (AUTHOR) chiara.guglielmi.cg@gmail.com, Sidoti, Diletta5 (AUTHOR) diletta.sidoti.5@gmail.com, Congregati, Caterina7 (AUTHOR) c.congregati@ao-pisa.toscana.it, Caligo, Maria Adelaide5 (AUTHOR) p.aretini@fpscience.it
Publikováno v: International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 21, p15507. 11p.
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8
Akademický článek
The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times
Autor: Paolo Aretini, Silvano Presciuttini, Aldo Pastore, Alvaro Galli, Sara Panepinto, Mariella Tancredi, Matteo Ghilli, Chiara Guglielmi, Diletta Sidoti, Caterina Congregati, Maria Adelaide Caligo
Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 21, p 15507 (2023)
Approximately 30–50% of hereditary breast and ovarian cancer (HBOC) is due to the presence of germline pathogenic variants in the BRCA1 (OMIM 113705) and BRCA2 (OMIM 600185) onco-suppressor genes, which are involved in DNA damage response. Women wh
Externí odkaz: https://doaj.org/article/9c138e25fa764f6bb92c4583c4b29072
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10
Akademický článek
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