G
Gabriella Sole
Researcher at National Research Council
Publications - 32
Citations - 1760
Gabriella Sole is an academic researcher from National Research Council. The author has contributed to research in topics: Population & Locus (genetics). The author has an hindex of 15, co-authored 32 publications receiving 1553 citations. Previous affiliations of Gabriella Sole include National Institutes of Health & University of Cagliari.
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Journal ArticleDOI
Genetic variants regulating immune cell levels in health and disease
Valeria Orrù,Maristella Steri,Gabriella Sole,Carlo Sidore,Carlo Sidore,Francesca Virdis,Mariano Dei,Sandra Lai,Magdalena Zoledziewska,Fabio Busonero,Antonella Mulas,Matteo Floris,Wieslawa I. Mentzen,Silvana Anna Maria Urru,Stefania Olla,Michele Marongiu,Maria Grazia Piras,Monia Lobina,Andrea Maschio,Maristella Pitzalis,Maria Francesca Urru,Marco Marcelli,Roberto Cusano,Francesca Deidda,Valentina Serra,Manuela Oppo,Rosella Pilu,Frederic Reinier,Riccardo Berutti,Luca Pireddu,Ilenia Zara,Eleonora Porcu,Alan Kwong,Christine Brennan,Brendan Tarrier,Robert H. Lyons,Hyun Min Kang,Sergio Uzzau,Rossano Atzeni,M. Valentini,Davide Firinu,Lidia Leoni,Gianluca Rotta,Silvia Naitza,Andrea Angius,Mauro Congia,Michael B. Whalen,Chris Jones,David Schlessinger,Gonçalo R. Abecasis,Edoardo Fiorillo,Serena Sanna,Francesco Cucca +52 more
TL;DR: Genetic contributions to quantitative levels of 95 cell types encompassing 272 immune traits, in a cohort of 1,629 individuals from four clustered Sardinian villages are reported, connecting specific cellular phenotypes to specific genetic variants, helping to explicate their involvement in disease.
Journal ArticleDOI
Overexpression of the Cytokine BAFF and Autoimmunity Risk
Maristella Steri,Valeria Orrù,M. Laura Idda,Maristella Pitzalis,Mauro Pala,Ilenia Zara,Carlo Sidore,Valeria Faà,Matteo Floris,Manila Deiana,Isadora Asunis,Eleonora Porcu,Antonella Mulas,Maria Grazia Piras,Monia Lobina,Sandra Lai,Mara Marongiu,Valentina Serra,Michele Marongiu,Gabriella Sole,Fabio Busonero,Andrea Maschio,Roberto Cusano,Gianmauro Cuccuru,Francesca Deidda,Fausto Pier'Angelo Poddie,Gabriele Farina,Mariano Dei,Francesca Virdis,Stefania Olla,Maria Anna Satta,Mario Pani,Alessandro P Delitala,Eleonora Cocco,Jessica Frau,Giancarlo Coghe,Lorena Lorefice,Giuseppe Fenu,Paola Ferrigno,Maria Ban,N. Barizzone,Maurizio Leone,Franca Rosa Guerini,Matteo Piga,Davide Firinu,Ingrid Kockum,Izaura Lima Bomfim,Tomas Olsson,Lars Alfredsson,Lars Alfredsson,Ana Suárez,Patricia Carreira,Maria J. Castillo-Palma,Joseph Marcus,Mauro Congia,Andrea Angius,Maurizio Melis,Antonio Gonzalez,Marta E. Alarcón Riquelme,Berta M. da Silva,Maurizio Marchini,Maria Giovanna Danieli,Stefano Del Giacco,Alessandro Mathieu,Antonello Pani,Stephen B. Montgomery,Giulio Rosati,Jan Hillert,Stephen Sawcer,Sandra D'Alfonso,John A. Todd,John Novembre,Gonçalo R. Abecasis,Michael B. Whalen,Maria Giovanna Marrosu,Alessandra Meloni,Serena Sanna,Myriam Gorospe,David Schlessinger,Edoardo Fiorillo,Magdalena Zoledziewska,Francesco Cucca +81 more
TL;DR: A TNFSF13B variant was associated with multiple sclerosis and SLE, and its effects were clarified at the population, cellular, and molecular levels.
Journal ArticleDOI
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.
Maria Antonietta Melis,Milena Cau,R. Congiu,Gabriella Sole,Susanna Barella,Antonio Cao,Mark Westerman,Mario Cazzola,Renzo Galanello +8 more
TL;DR: The findings of this study suggest that the observed TMPRSS6 mutation leads to overproduction of hepcidin and, in turn, to defective iron absorption and utilization, and confirm in humans the inhibitory effect of matriptase-2 on hePCidin synthesis already demonstrated in mice.
Journal Article
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
Annalena Figus,Andrea Angius,Georgios Loudianos,Bertini C,Dessi,Angela Loi,Manila Deiana,Mario Lovicu,Nazario Olla,Gabriella Sole +9 more
TL;DR: WD results from some frequent mutations and many rare defects, and the chromosomal haplotype in patients and Mediterranean descent who were affected by Wilson disease is defined.
Journal ArticleDOI
IRAK-M is involved in the pathogenesis of early-onset persistent asthma.
Lenuta Balaci,Maria Cristina Spada,Nazario Olla,Gabriella Sole,Laura Loddo,Francesca Anedda,Silvia Naitza,Maria Antonietta Zuncheddu,Andrea Maschio,Daniele Altea,Manuela Uda,Sabrina Pilia,Serena Sanna,Marco Masala,Laura Crisponi,Matilde Fattori,Marcella Devoto,Marcella Devoto,Silvia Doratiotto,Stefania Rassu,Simonetta Mereu,Enrico Giua,Natalina Graziella Cadeddu,Roberto Atzeni,Umberto Pelosi,Adriano Corrias,Roberto Perra,Pier Luigi Torrazza,Pietro Pirina,Francesco Ginesu,Silvano Marcias,Maria Grazia Schintu,Gennaro Sergio Del Giacco,Paolo Emilio Manconi,Giovanni Malerba,Andrea Bisognin,Elisabetta Trabetti,Attilio Boner,Lydia Pescollderungg,Pier Franco Pignatti,David Schlessinger,Antonio Cao,Giuseppe Pilia +42 more
TL;DR: The data suggest a mechanistic link between hyperactivation of the innate immune system and chronic airway inflammation and indicate IRAK-M as a potential target for therapeutic intervention against asthma.