Search Results - "DE VIRGILIIS, Stefano"

The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease by Lovicu, Mario, Dessì, Valeria, Lepori, Maria Barbara, Zappu, Antonietta, Zancan, Lucia, Giacchino, Raffaella, Marazzi, Maria Grazia, Iorio, Raffaele, Vegnente, Angela, Vajro, Pietro, Maggiore, Giuseppe, Marcellini, Matilde, Barbera, Cristiana, Kostic, Vladimir, Farci, Anna Maria Giulia, Solinas, Antonello, Altuntas, Buket, Yuce, Aysel, Kocak, Nurten, Tsezou, Aspasia, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

“…It has recently been demonstrated that the Wilson disease (WD) protein directly interacts with the human homolog of the MURR1 protein in vitro and in vivo, and…”
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T Cell Epitopes of Insulin Defined in HLA-DR4 Transgenic Mice are Derived from Preproinsulin and Proinsulin by Congia, Mauro, Patel, Salil, Cope, Andrew P., De Virgiliis, Stefano, Sonderstrup, Grete

“…Approximately one-half of Caucasians with newly diagnosed insulin-dependent diabetes mellitus (IDDM) have autoantibodies to insulin, and the majority of those…”
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High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs by Antonietta, Zappu, Olympia, Magli, Lepori, Maria Barbara, Valentina, Dessì, Stefania, Diana, Simona, Incollu, Emmanuel, Kanavakis, Polyxeni, Nicolaidou, Nina, Manolaki, Andreas, Fretzayas, Stefano, De Virgiliis, Antonio, Cao, Georgios, Loudianos

“…ABSTRACT Objectives: Herein we report the results of mutation‐based screening for Wilson disease (WD) in 2 isolated populations of Sardinia and the Greek…”
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The HLA-DPB1–Associated Component of the IDDM1 and Its Relationship to the Major Loci HLA-DQB1, -DQA1, and -DRB1 by CUCCA, Francesco, DUDBRIDGE, Frank, GILCHRIST, Frances, CORDELL, Heather, WELSH, Ken, TODD, John A, LODDO, Miriam, MULARGIA, Anna P, LAMPIS, Rosannna, ANGIUS, Efisio, DE VIRGILIIS, Stefano, KOELEMAN, Bobby P. C, BAIN, Stephen C, BARNETT, Anthony H

“…The HLA-DPB1 –Associated Component of the IDDM1 and Its Relationship to the Major Loci HLA-DQB1 , -DQA1 , and - DRB1 Francesco Cucca 1 , Frank Dudbridge 3 ,…”
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Wilson's disease in Sardinian population: The experience of a pediatric referral center by Loudianos, Georgios, Satta, Stefania, Lepori, Maria B., Anni, Franco, Balloi, Roberta, Soddu, Consolata, Fenu, Maria L., Lilliu, Franco, Nurchi, Anna M., De Virgiliis, Stefano

“…Background and Objectives Wilson's disease (WD) in children and adolescents is predominantly asymptomatic or oligo‐symptomatic. The symptoms are nonspecific…”
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Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features by Loudianos, Georgios, Zappu, Antonietta, Lepori, Maria B., Dessì, Valentina, Mameli, Eva, Orrù, Sandra, Podda, Rosa A., De Virgiliis, Stefano

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Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features: The Coexistence of Two Diseases? by Loudianos, Georgios, Zappu, Antonietta, Lepori, Maria B, Dessì, Valentina, Mameli, Eva, Orrù, Sandra, Podda, Rosa A, De Virgiliis, Stefano

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Autoantibodies against CYP-2C19: A Novel Serum Marker in Pediatric De Novo Autoimmune Hepatitis? by Vajro, Pietro, Manns, Michael P., Gridelli, Bruno, Meloni, Antonella, Cicotto, Lucia, Mandato, Claudia, Antonucci, Roberto, Clemente, Maria Grazia, De Virgiliis, Stefano

“…Diagnosis of de novo autoimmune hepatitis (AIH) after orthotopic liver transplantation (OLT) is challenging especially in the absence of hyper-γ-globulinemia…”
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Distinctive HLA-II association with primary biliary cholangitis on the Island of Sardinia by Clemente, Maria Grazia, Frau, Fulvia, Bernasconi, Matilde, Macis, Maria Doloretta, Cicotto, Lucia, Pilleri, Giampaolo, De Virgiliis, Stefano, Castiglia, Paolo, Farci, Patrizia

“…Background The HLA DRB1*08 allele associated with primary biliary cholangitis (PBC) among Caucasians is of low frequency in the Sardinian population. Objective…”
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Wilson's disease in two consecutive generations: The detection of three mutated alleles in the ATP7B gene in two Sardinian families by Loudianos, Georgios, Zappu, Antonietta, Lepori, Maria Barbara, Incollu, Simona, Dessì, Valentina, Mameli, Eva, Garrucciu, Giovanni, De Virgiliis, Stefano, Cao, Antonio

“…Abstract Background Wilson's disease diagnosis is still a challenge for clinicians. Aim To underline the importance of genetic testing in carrier detection and…”
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High frequency of low-risk human leukocyte antigen class II genotypes in latent celiac disease by Schirru, Enrico, Jores, Rita-Désirée, Cicotto, Lucia, Frau, Fulvia, De Virgiliis, Stefano, Rossino, Rossano, Macis, Maria Doloretta, Lampis, Rosanna, Congia, Mauro

“…Abstract Human leukocyte antigen (HLA) class II genotypes in latent celiac disease, a clinical variant of celiac disease (CD) have been scarcely studied. The…”
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Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening by Zappu, Antonietta, Lepori, Maria Barbara, Incollu, Simona, Noli, Maria Cristina, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

“…Wilson's disease (WD) is an autosomal recessive disorder caused by a defective function of the copper transporting ATP7B protein. Analysis of ATP7B gene in the…”
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Antitissue Transglutaminase Antibodies Outside Celiac Disease by Clemente, Maria Grazia, Musu, Maria Paola, Frau, Fulvia, Lucia, Cicotto, De Virgiliis, Stefano

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Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation by Boccone, Loredana, Dessì, Valentina, Zappu, Antonietta, Piga, Silvia, Piludu, Maria Bonaria, Rais, Marco, Massidda, Carlo, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

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Decline of Lactase Activity and C/T‐13910 Variant in Sardinian Childhood by Schirru, Enrico, Corona, Valeria, Usai‐Satta, Paolo, Scarpa, Maria, Cucca, Francesco, De Virgiliis, Stefano, Rossino, Rossano, Frau, Fulvia, Macis, Maria Doloretta, Jores, Rita‐Désirée, Congia, Mauro

“…ABSTRACT Objectives: Our study aims to determine the age of onset of adult‐type hypolactasia in Sardinians, and to establish the age at which genotyping of the…”
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Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report by Zappu, Antonietta, Lepori, Maria Barbara, Incollu, Simona, Dessì, Valentina, Noli, Maria Cristina, Mameli, Eva, Bonafé, Luisa, Garcia Dépraz, Nuria, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

“…Approximately 520 Wilson disease-causing mutations in the ATP7B gene have been described to date. In this study we report DNA and RNA analyses carried out for…”
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Enterocyte Actin Autoantibody Detection: A New Diagnostic Tool in Celiac Disease Diagnosis: Results of a Multicenter Study by CLEMENTE, M. G, MUSU, M. P, CORAZZA, G. R, GASBARRINI, G, CICOTTO, L, SOLE, G, FASANO, A, DE VIRGILIIS, S, TRONCONE, R, VOLTA, U, CONGIA, M, CIACCI, C, NERI, E, NOT, T, MAGGIORE, G, STRISCIUGLIO, P

“…This study describes a new method to detect autoantibodies against actin filaments (AAA) as a serological marker of intestinal villous atrophy (IVA) in celiac…”
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Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study by Bonamico, Margherita, Mariani, Paolo, Danesi, Helene Maria, Crisogianni, Massimo, Failla, Pinella, Gemme, Gerolamo, Quartino, Alberto Rasore, Giannotti, Aldo, Castro, Massimo, Balli, Fiorella, Lecora, Margherita, Andria, Generoso, Guariso, Graziella, Gabrielli, Orazio, Catassi, Carlo, Lazzari, Rosanna, Balocco, Nicoletta Ansaldi, De Virgiliis, Stefano, Culasso, Franco, Romano, Corrado

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Molecular characterization of Wilson disease in the Sardinian population-Evidence of a founder effect by Loudianos, Georgios, Dessi, Valeria, Lovicu, Mario, Angius, Andrea, Figus, Annalena, Lilliu, Franco, De Virgiliis, Stefano, Nurchi, Anna Maria, Deplano, Angelo, Moi, Paolo, Pirastu, Mario, Cao, Antonio

“…Wilson disease (WD) in the Sardinian population has an approximate incidence of 1:7,000 live births. Mutation analysis of the WD gene in this population…”
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Analysis of the T1288R mutation of the wilson disease ATP7B gene in four generations of a family : Possible genotype-phenotype correlation with hepatic onset by LEGGIO, Lorenzo, MALANDRINO, Noemi, LOUDIANOS, Georgios, ABENAVOLI, Ludovico, LEPORI, Maria Barbara, CAPRISTO, Esmeralda, DE VIRGILIIS, Stefano, GASBARRINI, Giovanni, ADDOLORATO, Giovanni

“…Wilson disease, an autosomal recessive disorder due to mutations of the ATP7B gene, is characterized by copper accumulation and toxicity in the liver and…”
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