Search Results - "Bianco, Anna Monica"

Genetics of inflammatory bowel disease from multifactorial to monogenic forms by Bianco, Anna Monica, Girardelli, Martina, Tommasini, Alberto

“…Inflammatory bowel disease(IBD) is a group of chronic multifactorial disorders. According to a recent study,the number of IBD association loci is increased to…”
Get full text

Family history in early-onset inflammatory bowel disease by Bianco, Anna Monica, Zanin, Valentina, Monasta, Lorenzo, Martelossi, Stefano, Marcuzzi, Annalisa, Crovella, Sergio

Get full text

Type I interferon-mediated autoinflammation due to DNase II deficiency by Rodero, Mathieu P., Tesser, Alessandra, Bartok, Eva, Rice, Gillian I., Della Mina, Erika, Depp, Marine, Beitz, Benoit, Bondet, Vincent, Cagnard, Nicolas, Duffy, Darragh, Dussiot, Michael, Frémond, Marie-Louise, Gattorno, Marco, Guillem, Flavia, Kitabayashi, Naoki, Porcheray, Fabrice, Rieux-Laucat, Frederic, Seabra, Luis, Uggenti, Carolina, Volpi, Stefano, Zeef, Leo A H., Alyanakian, Marie-Alexandra, Beltrand, Jacques, Bianco, Anna Monica, Boddaert, Nathalie, Brouzes, Chantal, Candon, Sophie, Caorsi, Roberta, Charbit, Marina, Fabre, Monique, Faletra, Flavio, Girard, Muriel, Harroche, Annie, Hartmann, Evelyn, Lasne, Dominique, Marcuzzi, Annalisa, Neven, Bénédicte, Nitschke, Patrick, Pascreau, Tiffany, Pastore, Serena, Picard, Capucine, Picco, Paolo, Piscianz, Elisa, Polak, Michel, Quartier, Pierre, Rabant, Marion, Stocco, Gabriele, Taddio, Andrea, Uettwiller, Florence, Valencic, Erica, Vozzi, Diego, Hartmann, Gunther, Barchet, Winfried, Hermine, Olivier, Bader-Meunier, Brigitte, Tommasini, Alberto, Crow, Yanick J.

“…Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement to limit the misrepresentation of self nucleic…”
Get full text

Curcumin and inflammatory bowel disease: potential and limits of innovative treatments by Vecchi Brumatti, Liza, Marcuzzi, Annalisa, Tricarico, Paola Maura, Zanin, Valentina, Girardelli, Martina, Bianco, Anna Monica

“…Curcumin belongs to the family of natural compounds collectively called curcuminoids and it possesses remarkable beneficial anti-oxidant, anti-inflammatory,…”
Get full text

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme by Bottega, Roberta, Marzollo, Antonio, Marinoni, Maddalena, Athanasakis, Emmanouil, Persico, Ilaria, Bianco, Anna Monica, Faleschini, Michela, Valencic, Erica, Simoncini, Daniela, Rossini, Linda, Corsolini, Fabio, La Bianca, Martina, Robustelli, Giuseppe, Gabelli, Maria, Agosti, Massimo, Biffi, Alessandra, Grotto, Paolo, Bozzi, Valeria, Noris, Patrizia, Burlina, Alberto B, D'Adamo, Adamo Pio, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna

Get full text

Notch Signaling Regulation in Autoinflammatory Diseases by Gratton, Rossella, Tricarico, Paola Maura, d'Adamo, Adamo Pio, Bianco, Anna Monica, Moura, Ronald, Agrelli, Almerinda, Brandão, Lucas, Zupin, Luisa, Crovella, Sergio

“…Notch pathway is a highly conserved intracellular signaling route that modulates a vast variety of cellular processes including proliferation, differentiation,…”
Get full text

Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity by Balduit, Andrea, Bianco, Anna Monica, Mangogna, Alessandro, Zicari, Anna Maria, Leonardi, Lucia, Cinicola, Bianca Laura, Capponi, Martina, Tommasini, Alberto, Agostinis, Chiara, d'Adamo, Adamo Pio, Bulla, Roberta

“…Primary complement system (C) deficiencies are rare but notably associated with an increased risk of infections, autoimmunity, or immune disorders. Patients…”
Get full text

Altered pattern of tumor necrosis factor-alpha production in peripheral blood monocytes from Crohn’s disease by Loganes, Claudia, Pin, Alessia, Naviglio, Samuele, Girardelli, Martina, Bianco, Anna Monica, Martelossi, Stefano, Tommasini, Alberto, Piscianz, Elisa

“…AIM To evaluate the inflammatory state in Crohn’s disease(CD) patients and correlate it with genetic background and microbial spreading.METHODS By means of…”
Get full text

Could the MED13 mutations manifest as a Kabuki‐like syndrome? by De Nardi, Laura, Faletra, Flavio, D'Adamo, Adamo Pio, Bianco, Anna Monica Rosaria, Athanasakis, Emmanouil, Bruno, Irene, Barbi, Egidio

“…MED13‐related disorder is a new neurodevelopmental disorder recently described in literature, which belongs to the group of CDK8‐kinase module genes‐associated…”
Get full text

Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association? by Girardelli, Martina, Vuch, Josef, Tommasini, Alberto, Crovella, Sergio, Bianco, Anna Monica

“…Deregulated immune response to gut microflora in genetically predisposed individuals is typical for inflammatory bowel diseases. It is reasonable to assume…”
Get full text

High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO) by d’Adamo, Adamo Pio, Bianco, Anna Monica, Ferrara, Giovanna, La Bianca, Martina, Insalaco, Antonella, Tommasini, Alberto, Pardeo, Manuela, Cattalini, Marco, La Torre, Francesco, Finetti, Martina, Alizzi, Clotilde, Simonini, Gabriele, Messia, Virginia, Pastore, Serena, Cimaz, Rolando, Gattorno, Marco, Taddio, Andrea

“…Abstract Background FBLIM1 gene has been recently demonstrated to be involved in the pathogenesis of bone sterile inflammation. The aim of the study is to…”
Get full text

DEFB1 gene 5′ untranslated region (UTR) polymorphisms in inflammatory bowel diseases by Zanin, Valentina, Segat, Ludovica, Bianco, Anna Monica, Padovan, Lara, de Alencar Cunha Tavares, Nathalia, Crovella, Sergio

Get full text

A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect by Vettore, Silvia, De Rocco, Daniela, Gerber, Bernhard, Scandellari, Raffaella, Bianco, Anna Monica, Balduini, Carlo L, Pecci, Alessandro, Fabris, Fabrizio, Savoia, Anna

“…Abstract MYH9 -related disease ( MYH9 -RD) is a rare autosomal dominant disorder caused by mutations in MYH9 , the gene encoding the heavy chain of non-muscle…”
Get full text

MYO5B Gene Mutations by Matarazzo, Lorenza, Bianco, Anna Monica, Athanasakis, Emmanouil, Serveres, Marco, Francalanci, Paola, Cenacchi, Giovanna, Maggiore, Giuseppe, D'Adamo, Adamo Pio

“…ABSTRACT Objectives: Progressive familial intrahepatic cholestasis is an expanding group of autosomal recessive intrahepatic cholestatic disorders. Recently,…”
Get full text

MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy with Normal Gamma-glutamyl Transferase Phenotype by Matarazzo, Lorenza, Bianco, Anna Monica, Athanasakis, Emmanouil, Sciveres, Marco, Francalanci, Paola, Cenacchi, Giovanna, Maggiore, Giuseppe, D’Adamo, Adamo Pio

Get full text

MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype by Matarazzo, Lorenza, Bianco, Anna Monica, Athanasakis, Emmanouil, Serveres, Marco, Francalanci, Paola, Cenacchi, Giovanna, Maggiore, Giuseppe, D’Adamo, Adamo Pio

“…Progressive familial intrahepatic cholestasis is an expanding group of autosomal recessive intrahepatic cholestatic disorders. Recently, next-generation…”
Get full text

Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers by Balasan, Nour, Kharrat, Feras, Di Lorenzo, Giovanni, Athanasakis, Emmanouil, Bianco, Anna Monica, Conti, Andrea, Di Stazio, Maria Teresa, Butera, Giulia, Cicogna, Stefania, Mangogna, Alessandro, Romano, Federico, Ricci, Giuseppe, d’Adamo, Adamo Pio

“…Early detection of recurrences in gynecological cancers is crucial for women’s health. Circulating tumor DNA (ctDNA) analysis through liquid biopsy offers a…”
Get full text

Genetic profile of patients with early onset inflammatory bowel disease by Girardelli, Martina, Basaldella, Federica, Paolera, Sara Della, Vuch, Josef, Tommasini, Alberto, Martelossi, Stefano, Crovella, Sergio, Bianco, Anna Monica

“…Inflammatory Bowel disease (IBD) is a widespread pathological condition with clinical heterogeneity and with different levels of severity. Although IBD usually…”
Get full text

Mevalonate kinase deficiency and IBD: shared genetic background by Bianco, Anna Monica, Girardelli, Martina, Vozzi, Diego, Crovella, Sergio, Kleiner, Giulio, Marcuzzi, Annalisa

Get more information

Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes by Piscianz, Elisa, Conversano, Ester, Bianco, Anna Monica, Faletra, Flavio, Tommasini, Alberto, Valencic, Erica

“…Most of primary immunodeficiencies with hypogammaglobulinemia are associated with reduced memory B cells. T cell development may be interesting as well, but…”
Get full text