Zobrazeno 1 - 10
of 243
pro vyhledávání: '"Pasini, A"'
Autor:
Jeffrey To, Soumita Ghosh, Xun Zhao, Elisa Pasini, Sandra Fischer, Gonzalo Sapisochin, Anand Ghanekar, Elmar Jaeckel, Mamatha Bhat
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-12 (2024)
Abstract Background Liver transplantation (LT) is offered as a cure for Hepatocellular carcinoma (HCC), however 15–20% develop recurrence post-transplant which tends to be aggressive. In this study, we examined the transcriptome profiles of patient
Externí odkaz:
https://doaj.org/article/6bd3bd44dd4b43f0bb30d758de803db7
Autor:
Silvia Cascianelli, Chiara Barbera, Alexandra Ambra Ulla, Elena Grassi, Barbara Lupo, Diego Pasini, Andrea Bertotti, Livio Trusolino, Enzo Medico, Claudio Isella, Marco Masseroli
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Background Transcriptional classification has been used to stratify colorectal cancer (CRC) into molecular subtypes with distinct biological and clinical features. However, it is not clear whether such subtypes represent discrete, mutually e
Externí odkaz:
https://doaj.org/article/e6e006a00b2149d7bd6490d838c419a2
Autor:
Ilaria Persico, Ilaria Fiscarelli, Alessandra Pelle, Michela Faleschini, Barbara Pasini, Anna Savoia, Roberta Bottega
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Somatic mosaicism appears as a recurrent phenomenon among patients suffering from Fanconi anemia (FA), but its direct prognostic significance mostly remains an open question. The clinical picture of FA mosaic subjects could indeed vary from just mild
Externí odkaz:
https://doaj.org/article/d1174727f1fa463db118f91ee4b72093
Autor:
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Publikováno v:
Genes, Vol 14, Iss 6, p 1230 (2023)
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of kidney failure in adult life. Rarely, ADPKD can be diagnosed in utero or in infancy, and the genetic mechanism underlying such severe presentation has been shown
Externí odkaz:
https://doaj.org/article/b89346ba17174a098429050e3b7d9874
Autor:
Leone, Maria Pia, Morlino, Silvia, Nardella, Grazia, Pracella, Riccardo, Giachino, Daniela, Celli, Luca, Baldo, Demetrio, Turolla, Licia, Piccione, Maria, Salzano, Emanuela, Busè, Martina, Lastella, Patrizia, Zollino, Marcella, Cantone, Rachele, Grosso, Enrico, Zonta, Andrea, Pasini, Barbara, Piscopo, Carmelo, De Maggio, Ilaria, Priolo, Manuela, Mammi, Corrado, Foiadelli, Thomas, Trabatti, Chiara, Savasta, Salvatore, Iolascon, Achille, Ferraris, Alessandro, Lodato, Valentina, Di Giosaffatte, Niccolò, Majore, Silvia, Selicorni, Angelo, Petracca, Antonio, Fusco, Carmela, Celli, Mauro, Guarnieri, Vito, Micale, Lucia, Castori, Marco
Publikováno v:
Human Genetics. 142:785-808
Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still
Akademický článek
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Akademický článek
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Akademický článek
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Autor:
Alice Maguolo, Giulia Rodella, Alejandro Giorgetti, Marion Nicolodi, Rui Ribeiro, Alice Dianin, Gaetano Cantalupo, Irene Monge, Sarah Carcereri, Margherita Lucia De Bernardi, Massimo Delledonne, Andrea Pasini, Natascia Campostrini, Florina Ion Popa, Giorgio Piacentini, Francesca Teofoli, Monica Vincenzi, Marta Camilot, Andrea Bordugo
Publikováno v:
Genes, Vol 13, Iss 2, p 233 (2022)
BCKDK is an important key regulator of branched-chain ketoacid dehydrogenase complex activity by phosphorylating and so inactivating branched-chain ketoacid dehydrogenases, the rate-limiting enzyme of the branched-chain amino acid metabolism. We iden
Externí odkaz:
https://doaj.org/article/6ba661eb7d7c494abce5694e0b136c07
Autor:
Vilma Mantovani, Sofia Bin, Claudio Graziano, Irene Capelli, Raffaella Minardi, Valeria Aiello, Enrico Ambrosini, Carlotta Pia Cristalli, Alessandro Mattiaccio, Milena Pariali, Sara De Fanti, Flavio Faletra, Enrico Grosso, Rachele Cantone, Elena Mancini, Francesca Mencarelli, Andrea Pasini, Anita Wischmeijer, Nicola Sciascia, Marco Seri, Gaetano La Manna
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders in humans and the majority of patients carry a variant in either PKD1 or PKD2. Genetic testing is increasingly required for diagnosis, pr
Externí odkaz:
https://doaj.org/article/26a65cc630334739b480a8c4a9ee3d31