Zobrazeno 1 - 10
of 175
pro vyhledávání: '"Sabrina, Giglio"'
Autor:
Roberto Littera, Stefano Mocci, Davide Argiolas, Letizia Littarru, Sara Lai, Maurizio Melis, Celeste Sanna, Caterina Mereu, Michela Lorrai, Alessia Mascia, Andrea Angioi, Giacomo Mascia, Valeria Matta, Nicola Lepori, Matteo Floris, Cristina Manieli, Paola Bianco, Daniela Onnis, Stefania Rassu, Silvia Deidda, Mauro Giovanni Carta, Erika Giuressi, Andrea Perra, Luchino Chessa, Sabrina Giglio, Antonello Pani
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundAntibody-mediated rejection is a significant cause of kidney transplant failure. Recent studies have shown that the MHC class I MICA gene influences the transplantation outcome. However, the role of the primary MICA receptor, NKG2D, has yet
Externí odkaz:
https://doaj.org/article/6ed1fe38c60c43d99e3e2af024d4866c
Autor:
Daniela Formicola, Irina Podda, Elia Dirupo, Elena Andreucci, Sabrina Giglio, Paola Cipriani, Clara Bombonato, Filippo Maria Santorelli, Anna Chilosi
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
BackgroundChildhood apraxia of speech (CAS) is a genetically heterogeneous pediatric motor speech disorder. The advent of whole exome sequencing (WES) and whole genome sequencing techniques has led to increased identification of pathogenic variants i
Externí odkaz:
https://doaj.org/article/1f715004690545eda360932bfd9662ad
Autor:
Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and
Externí odkaz:
https://doaj.org/article/dc4bcc3fd9a94543a5c2f94cf91155fd
Autor:
Stefano Mocci, Roberto Littera, Luchino Chessa, Marcello Campagna, Maurizio Melis, Carla Maria Ottelio, Ignazio S. Piras, Sara Lai, Davide Firinu, Stefania Tranquilli, Alessia Mascia, Monica Vacca, Daniele Schirru, Luigi Isaia Lecca, Stefania Rassu, Federica Cannas, Celeste Sanna, Mauro Giovanni Carta, Francesca Sedda, Erika Giuressi, Selene Cipri, Michela Miglianti, Andrea Perra, Sabrina Giglio
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionA large number of risk and protective factors have been identified during the SARS-CoV-2 pandemic which may influence the outcome of COVID-19. Among these, recent studies have explored the role of HLA-G molecules and their immunomodulator
Externí odkaz:
https://doaj.org/article/47e8e78203734accafeb9f800beaf04e
Autor:
Roberto Littera, Andrea Perra, Michela Miglianti, Ignazio S. Piras, Stefano Mocci, Sara Lai, Maurizio Melis, Teresa Zolfino, Cinzia Balestrieri, Maria Conti, Giancarlo Serra, Francesco Figorilli, Davide Firinu, Simona Onali, Laura Matta, Carmen Porcu, Francesco Pes, Daniela Fanni, Cristina Manieli, Monica Vacca, Roberto Cusano, Marcello Trucas, Selene Cipri, Stefania Tranquilli, Stefania Rassu, Federica Cannas, Mauro Giovanni Carta, Marta Anna Kowalik, Erika Giuressi, Gavino Faa, Luchino Chessa, Sabrina Giglio
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The immunomodulatory effects of HLA-G expression and its role in cancers, human liver infections and liver transplantation are well documented, but so far, there are only a few reports addressing autoimmune liver diseases, particularly autoimmune hep
Externí odkaz:
https://doaj.org/article/4a7493e5b0fc4ea0aaff6419fc06422a
Autor:
Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract Background Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot–Marie–Tooth type CMTRIB,
Externí odkaz:
https://doaj.org/article/a4f93a71a1704f7bae04c376b874ef42
Autor:
Stefano Mocci, Roberto Littera, Stefania Tranquilli, Aldesia Provenzano, Alessia Mascia, Federica Cannas, Sara Lai, Erika Giuressi, Luchino Chessa, Goffredo Angioni, Marcello Campagna, Davide Firinu, Maria Del Zompo, Giorgio La Nasa, Andrea Perra, Sabrina Giglio
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Sardinia has one of the lowest incidences of hospitalization and related mortality in Europe and yet a very high frequency of the Neanderthal risk locus variant on chromosome 3 (rs35044562), considered to be a major risk factor for a severe SARS-CoV-
Externí odkaz:
https://doaj.org/article/bd45465770fa42918eb39b483da90837
Autor:
Boaz Palterer, Lorenzo Salvati, Manuela Capone, Valentina Mecheri, Laura Maggi, Alessio Mazzoni, Lorenzo Cosmi, Nila Volpi, Lucia Tiberi, Aldesia Provenzano, Sabrina Giglio, Paola Parronchi, Giandomenico Maggiore, Oreste Gallo, Alessandro Bartoloni, Francesco Annunziato, Lorenzo Zammarchi, Francesco Liotta
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
X-linked hyper-IgM (XHIGM) syndrome is caused by mutations of the CD40LG gene, encoding the CD40L protein. The clinical presentation is characterized by early-onset infections, with profound hypogammaglobulinemia and often elevated IgM, susceptibilit
Externí odkaz:
https://doaj.org/article/2e57030a27d244f1893271041a33dc56
Autor:
Angelica Pagliazzi, Teresa Oranges, Giovanna Traficante, Chiara Trapani, Flavio Facchini, Alessandra Martin, Alessandro Semeraro, Anna Perrone, Cesare Filippeschi, Sabrina Giglio
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
PIK3CA-related overgrowth spectrum (PROS) is an umbrella term referring to various clinical entities, which share the same pathogenetic mechanism. These conditions are caused by somatic gain-of-function mutations in PIK3CA, which encodes the 110-kD c
Externí odkaz:
https://doaj.org/article/babfafd2048e4396b8269ab28d630f41
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