M
Mauro Congia
Researcher at University of Cagliari
Publications - 55
Citations - 3853
Mauro Congia is an academic researcher from University of Cagliari. The author has contributed to research in topics: Human leukocyte antigen & Haplotype. The author has an hindex of 28, co-authored 51 publications receiving 3599 citations. Previous affiliations of Mauro Congia include University of Cambridge.
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Journal ArticleDOI
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
Torkel Vang,Mauro Congia,Maria Doloretta Macis,Lucia Musumeci,Valeria Orrù,Valeria Orrù,Patrizia Zavattari,Konstantina Nika,Lutz Tautz,Kjetil Taskén,Francesco Cucca,Francesco Cucca,Tomas Mustelin,Nunzio Bottini,Nunzio Bottini +14 more
TL;DR: It is concluded that the autoimmune-predisposing allele of the gene PTPN22 is a gain-of-function mutant.
Journal ArticleDOI
Early effects of gliadin on enterocyte intracellular signalling involved in intestinal barrier function
Maria Grazia Clemente,S. De Virgiliis,J S Kang,R Macatagney,M P Musu,M R Di Pierro,Sandro Drago,Mauro Congia,Alessio Fasano +8 more
TL;DR: Activation of the zonulin pathway by PKC mediated cytoskeleton reorganisation and tight junction opening leads to a rapid increase in intestinal permeability.
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
Deferoxamine-induced growth retardation in patients with thalassemia major
Stefano De Virgillis,Mauro Congia,F Frau,F Argiolu,Gluseppe Diana,Francesco Cucca,Angela Varsi,Graziolina Sanna,Gabriele Podda,Michela Fodde,Gian Franco Pirastu,Antonio Cao +11 more
TL;DR: The results indicate that in patients with thalassemia major, DF administration should be initiated only after iron accumulation is established, namely, around 3 years of age, after 20 to 30 transfusions, which are usually associated with ferritin levels in the range of 800 to 1000 ng/ml.