PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity

Autor: Jamie Inshaw, Fabio Busonero, Eleonora Porcu, Maristella Pitzalis, Eleonora Cocco, Margherita Chessa, Helen M. Colhoun, Annalisa Loizedda, Marco Masala, Gonçalo R. Abecasis, Maria Giovanna Marrosu, Lidia Leoni, Carlo Sidore, Mario Lovicu, Annapaola Frongia, David Schlessinger, Sandra Lai, Nicolò Curreli, Andrea Maschio, Lenuta Balaci, Liana Ap Ferreli, Fausto Pier'Angelo Poddie, Francesca Virdis, Suna Onengut-Gumuscu, John A. Todd, Michele Marongiu, Valeria Orrù, Maria Rossella Ricciardi, Magdalena Zoledziewska, Antonello Pani, Mariano Dei, Stephen S. Rich, Francesca Deidda, Jessica Frau, Mauro Pala, Nazario Olla, Paola Ferrigno, Edoardo Fiorillo, Gabriella Sole, Alessandro P Delitala, Valentina Serra, Francesco Loi, Stuart J. McGurnaghan, Maristella Steri, Maria Grazia Pilia, Antonella Mulas, Matteo Floris, Francesco Cucca, Luisa Mereu, Catherine C. Robertson

Publikováno v: Mult Scler

Background: Defective alleles within the PRF1 gene, encoding the pore-forming protein perforin, in combination with environmental factors, cause familial type 2 hemophagocytic lymphohistiocytosis (FHL2), a rare, severe autosomal recessive childhood d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::415d04bc08b8dfe6dc575e1015b48465
https://doi.org/10.1177/1352458520963937

FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice

Autor: Alessandro Puddu, Loredana Marcia, Mario Lovicu, Manila Deiana, Mara Marongiu, David Schlessinger, Laura Crisponi, Antonino Forabosco, Emanuele Pelosi, Manuela Uda, Yonqing Zhang, Angela Loi

Publikováno v: BMC Developmental Biology

Background Haploinsufficiency of the FOXL2 transcription factor in humans causes Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES), characterized by eyelid anomalies and premature ovarian failure. Mice lacking Foxl2 recapitulate human eyeli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e8af578b4ef19be1d2ed16b95fe81bd
http://europepmc.org/articles/PMC4489133

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

Autor: Mario Lovicu, Maria Teresa Ionta, Antonio Cossu, Magdalena Zoledziewska, Gonçalo R. Abecasis, Francesco Tanda, Francesco Atzori, Manuela Uda, Robert N. Hoover, Serena Sanna, Nazario Olla, Grazia Palomba, Sandra Lai, David Schlessinger, Laura Crisponi, Stephen J. Chanock, Mario Budroni, Maristella Pitzalis, Douglas F. Easton, N. Olmeo, Eleonora Porcu, Marina Pisano, Gianmauro Cuccuru, David J. Hunter, Giuseppe Palmieri, Ilenia Zara, Antonella Mulas, Mariano Dei, Angela Loi, Kyriaki Michailidou

Publikováno v: BMC Cancer
BMC cancer (Online) 15 (2015). doi:10.1186/s12885-015-1392-9
info:cnr-pdr/source/autori:Palomba G.; Loi A.; Porcu E.; Cossu A.; Zara I.; Budroni M.; Dei M.; Lai S.; Mulas A.; Olmeo N.; Ionta M.T.; Atzori F.; Cuccuru G.; Pitzalis M.; Zoledziewska M.; Olla N.; Lovicu M.; Pisano M.; Abecasis G.R.; Uda M.; Tanda F.; Michailidou K.; Easton D.F.; Chanock S.J.; Hoover R.N.; Hunter D.J.; Schlessinger D.; Sanna S.; Crisponi L.; Palmieri G./titolo:Genome-wide association study of susceptibility loci for breast cancer in Sardinian population/doi:10.1186%2Fs12885-015-1392-9/rivista:BMC cancer (Online)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume:15

Background Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70894c438b4c4e00545c5e32a309c806
https://pubmed.ncbi.nlm.nih.gov/25956309

Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency

Autor: Mario Lovicu, M. T. Dotti, M. Pirastu, Simonetta Sangiorgi, Alessandra Rufa, V. Dessì, Georgios Loudianos, Antonio Federico, Carla Battisti

Publikováno v: American Journal of Medical Genetics. 85:175-178

We have studied a patient with Wilson disease (WD), belonging to a family segregating late-onset, dominant cerebellar ataxia. Analysis of the WD gene showed that the patient is a compound heterozygote, carrying the 14His1069Gln mutation from the fath

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80126f841dbb075a1781f8e0249573f1
https://doi.org/10.1002/(sici)1096-8628(19990716)85:2<175::aid-ajmg13>3.0.co

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population

Autor: Rasit Yagci, Antonio Cao, Giacomo Carlo Sturniolo, Angela Vegnente, Mario Lovicu, Matilde Marcellini, Valeria Dessi, Andrea Angius, Nejat Akar, Lucia Zancan, Mario Pirastu, Annamaria Nurchi, Patrizia Bragetti, Georgios Loudianos

Publikováno v: Human Mutation. 12:89-94

This study presents the update results of an ongoing project on the delineation of the spectrum of mutations at the Wilson disease (WD) gene in WD patients of Mediterranean origin. In studying 59 patients, of whom were 26 Continental Italians, 22 Sar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1099bf885d0accddfeabc593a1f1166f
https://doi.org/10.1002/(sici)1098-1004(1998)12:2<89::aid-humu3>3.3.co