Heritability of cardiovascular and personality traits in 6,148 Sardinians.

Autor: Giuseppe Pilia, Wei-Min Chen, Angelo Scuteri, Marco Orrú, Giuseppe Albai, Mariano Dei, Sandra Lai, Gianluca Usala, Monica Lai, Paola Loi, Cinzia Mameli, Loredana Vacca, Manila Deiana, Nazario Olla, Marco Masala, Antonio Cao, Samer S Najjar, Antonio Terracciano, Timur Nedorezov, Alexei Sharov, Alan B Zonderman, Gonçalo R Abecasis, Paul Costa, Edward Lakatta, David Schlessinger

Publikováno v: PLoS Genetics, Vol 2, Iss 8, p e132 (2006)

In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups suc

Externí odkaz: https://doaj.org/article/86edb494b69643a9b78d4f5e2ca4268b

Overexpression of the cytokine BAFF and autoimmunity risk

Autor: Magdalena Zoledziewska, Myriam Gorospe, Lorena Lorefice, Gabriele Farina, Izaura Lima Bomfim, Eleonora Cocco, Antonella Mulas, Matteo Floris, Roberto Cusano, Francesco Cucca, Maria J. Castillo-Palma, Edoardo Fiorillo, M. Laura Idda, Michael B. Whalen, Antonello Pani, Maria Giovanna Danieli, Stephen B. Montgomery, Fabio Busonero, Gabriella Sole, Sandra Lai, Jessica Frau, Alessandro P Delitala, Stefania Olla, Valeria Faà, Michele Marongiu, Ana Suárez, Matteo Piga, Davide Firinu, Serena Sanna, Isadora Asunis, Tomas Olsson, Marta E. Alarcón Riquelme, Joseph Marcus, Francesca Virdis, Manila Deiana, Ilenia Zara, Jan Hillert, N. Barizzone, Maurizio Marchini, Maristella Steri, Valentina Serra, Paola Ferrigno, Giancarlo Coghe, Gianmauro Cuccuru, Sandra D'Alfonso, Mauro Congia, Maurizio Leone, Mara Marongiu, Maristella Pitzalis, Patricia Carreira, Andrea Maschio, Stephen Sawcer, Maria Giovanna Marrosu, David Schlessinger, Monia Lobina, Giulio Rosati, Mario Pani, Ingrid Kockum, Stefano Del Giacco, Alessandra Meloni, Franca Rosa Guerini, Mariano Dei, Alessandro Mathieu, Gonçalo R. Abecasis, Eleonora Porcu, Maria Grazia Piras, Valeria Orrù, Giuseppe Fenu, Mauro Pala, John Novembre, Maria Anna Satta, Antonio Gonzalez, Fausto Pier'Angelo Poddie, John A. Todd, Maurizio Melis, Berta M. da Silva, Francesca Deidda, Lars Alfredsson, Carlo Sidore, Maria Ban, Andrea Angius

Publikováno v: The New England journal of medicine
376 (2017): 1615–1626. doi:10.1056/NEJMoa1610528
info:cnr-pdr/source/autori:Steri, M.; Orru, V.; Idda, M. L.; Pitzalis, M.; Pala, M.; Zara, I.; Sidore, C.; Faa, V.; Floris, M.; Deiana, M.; Asunis, I.; Porcu, E.; Mulas, A.; Piras, M. G.; Lobina, M.; Lai, S.; Marongiu, M.; Serra, V.; Marongiu, M.; Sole, G.; Busonero, F.; Maschio, A.; Cusano, R.; Cuccuru, G.; Deidda, F.; Poddie, F.; Farina, G.; Dei, M.; Virdis, F.; Olla, S.; Satta, M. A.; Pani, M.; Delitala, A.; Cocco, E.; Frau, J.; Coghe, G.; Lorefice, L.; Fenu, G.; Ferrigno, P.; Ban, M.; Barizzone, N.; Leone, M.; Guerini, F. R.; Piga, M.; Firinu, D.; Kockum, I.; Bomfim, I. Lima; Olsson, T.; Alfredsson, L.; Suarez, A.; Carreira, P. E.; Castillo-Palma, M. J.; Marcus, J. H.; Congia, M.; Angius, A.; Melis, M.; Gonzalez, A.; Riquelme, M. E. A.; da Silva, B. M.; Marchini, M.; Danieli, M. G.; Del Giacco, S.; Mathieu, A.; Pani, A.; Montgomery, S. B.; Rosati, G.; Hillert, J.; Sawcer, S.; D'Alfonso, S.; Todd, J. A.; Novembre, J.; Abecasis, G. R.; Whalen, M. B.; Marrosu, M. G.; Meloni, A.; Sanna, S.; Gorospe, M.; Schlessinger, D.; Fiorillo, E.; Zoledziewska, M.; Cucca, F./titolo:Overexpression of the Cytokine BAFF and Autoimmunity Risk/doi:10.1056%2FNEJMoa1610528/rivista:The New England journal of medicine (Print)/anno:2017/pagina_da:1615/pagina_a:1626/intervallo_pagine:1615–1626/volume:376
New England Journal of Medicine
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
RUO: Repositorio Institucional de la Universidad de Oviedo
Universidad de Oviedo (UNIOVI)

Supported by grants (2011/R/13 and 2015/R/09, to Dr. Cucca) from the Italian Foundation for Multiple Sclerosis; contracts (N01-AG-1-2109 and HHSN271201100005C, to Dr. Cucca) from the Intramural Research Program of the National Institute on Aging, Nat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94006477334d1b3c6054c68f07bdc605
http://hdl.handle.net/11562/960591

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Autor: Renzo Galanello, Fabio Busonero, G. Abecasis, Paolo Moi, Silvia Naitza, Maria Grazia Piras, Natascia Sestu, Mariano Dei, Ramaiah Nagaraja, Sandra Lai, Vijay G. Sankaran, Stuart H. Orkin, Giuseppe Albai, Carla Sollaino, Antonio Cao, Guillaume Lettre, Wei-Min Chen, Manuela Uda, Maria Dolores Cipollina, Serena Sanna, Gianluca Usala, David Schlessinger, Antonella Mulas, Isadora Asunis, Joel N. Hirschhorn, Manila Deiana, Andrea Maschio, Laura Crisponi, Stefania Satta, Lucia Perseu

Publikováno v: Proceedings of the National Academy of Sciences. 105:1620-1625

β-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian diseases. The reasons for this are not well understood, although the level of fetal hemoglobin (HbF)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f156133e3a136ee1f375cf23a5a10044
https://doi.org/10.1073/pnas.0711566105

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Autor: Manila Deiana, Francesca Chiappe, Annie Nivelon, Luigi Bisceglia, Giuseppe Pilia, Lienhardt-Roussie A, Ramaiah Nagaraja, Laura Crisponi, M Nicolino, Antonio Cao, Ristaldi Ms, Paolo Gasparini, Loi A, R. Marzella, Mariano Rocchi, Patrizia Amati, Leopoldo Zelante, David Schlessinger, Alain Verloes, Manuela Uda, S. Porcu, Dominique Bonneau

Publikováno v: Nature Genetics. 27:159-166

In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb4d8cff168cded5b6eb12a9e779fc2a
https://doi.org/10.1038/84781

Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations

Autor: M. I. Parodi, C Camaschella, Antonio Cao, P Cerruti, M. Pirastu, S. Agosti, Stefania Murru, G. V. Sciarratta, Georgios Loudianos, Manila Deiana

Publikováno v: Blood. 77:1342-1347

In this study, we have defined by dot-blot analysis with allelic specific oligonucleotide probes or direct sequencing on amplified DNA the beta-thalassemia mutations in a large group of patients (23) of Italian descent with thalassemia intermedia. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29c789ae71f1bed8e95f1499cb639839
https://doi.org/10.1182/blood.v77.6.1342.1342