Search Results - "d'Adamo, Adamo Pio"

Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset by Agnoletto, Chiara, Corrà, Fabio, Minotti, Linda, Baldassari, Federica, Crudele, Francesca, Cook, William Joseph James, Di Leva, Gianpiero, d'Adamo, Adamo Pio, Gasparini, Paolo, Volinia, Stefano

“…The release of circulating tumor cells (CTCs) into vasculature is an early event in the metastatic process. The analysis of CTCs in patients has recently…”
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TBL1Y: a new gene involved in syndromic hearing loss by Di Stazio, Mariateresa, Collesi, Chiara, Vozzi, Diego, Liu, Wei, Myers, Mike, Morgan, Anna, D Adamo, Pio Adamo, Girotto, Giorgia, Rubinato, Elisa, Giacca, Mauro, Gasparini, Paolo

“…Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian…”
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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,…”
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Unraveling the Epigenetic Tapestry: Decoding the Impact of Epigenetic Modifications in Hidradenitis Suppurativa Pathogenesis by Nardacchione, Elena Maria, Tricarico, Paola Maura, Moura, Ronald, d'Adamo, Adamo Pio, Thasneem, Ayshath, Suleman, Muhammad, Marzano, Angelo Valerio, Crovella, Sergio, Moltrasio, Chiara

“…Hidradenitis suppurativa (HS) is a chronic autoinflammatory skin disorder, which typically occurs during puberty or early adulthood. The pathogenesis of HS is…”
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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…”
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Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family by PILUSO, Giulio, CARELLA, Massimo, D'AVANZO, Michele, SANTINELLI, Raffaele, CARRANO, Elena Maria, D'AVANZO, Angelo, D'ADAMO, Adamo Pio, GASPARINI, Paolo, NIGRO, Vincenzo

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A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis by Tricarico, Paola Maura, Gratton, Rossella, Dos Santos-Silva, Carlos André, de Moura, Ronald Rodrigues, Ura, Blendi, Sommella, Eduardo, Campiglia, Pietro, Del Vecchio, Cecilia, Moltrasio, Chiara, Berti, Irene, D'Adamo, Adamo Pio, Elsherbini, Ahmed M A, Staudenmaier, Lena, Chersi, Karin, Boniotto, Michele, Krismer, Bernhard, Schittek, Birgit, Crovella, Sergio

“…Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a multifactorial aetiology that involves a strict interplay between genetic factors,…”
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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…”
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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

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Plant Antimicrobial Peptides as Potential Tool for Topic Treatment of Hidradenitis Suppurativa by Dos Santos-Silva, Carlos André, Tricarico, Paola Maura, Vilela, Lívia Maria Batista, Roldan-Filho, Ricardo Salas, Amador, Vinícius Costa, d'Adamo, Adamo Pio, Rêgo, Mireli de Santana, Benko-Iseppon, Ana Maria, Crovella, Sergio

“…Among chronic skin autoinflammatory diseases, Hidradenitis Suppurativa (HS) stands out for its chronicity, highly variable condition, and profound impact on…”
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Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations by O'Seaghdha, Conall M, Wu, Hongsheng, Yang, Qiong, Kapur, Karen, Guessous, Idris, Zuber, Annie Mercier, Köttgen, Anna, Stoudmann, Candice, Teumer, Alexander, Kutalik, Zoltán, Mangino, Massimo, Dehghan, Abbas, Zhang, Weihua, Eiriksdottir, Gudny, Li, Guo, Tanaka, Toshiko, Portas, Laura, Lopez, Lorna M, Hayward, Caroline, Lohman, Kurt, Matsuda, Koichi, Padmanabhan, Sandosh, Firsov, Dmitri, Sorice, Rossella, Ulivi, Sheila, Brockhaus, A Catharina, Kleber, Marcus E, Mahajan, Anubha, Ernst, Florian D, Gudnason, Vilmundur, Launer, Lenore J, Mace, Aurelien, Boerwinckle, Eric, Arking, Dan E, Tanikawa, Chizu, Nakamura, Yusuke, Brown, Morris J, Gaspoz, Jean-Michel, Theler, Jean-Marc, Siscovick, David S, Psaty, Bruce M, Bergmann, Sven, Vollenweider, Peter, Vitart, Veronique, Wright, Alan F, Zemunik, Tatijana, Boban, Mladen, Kolcic, Ivana, Navarro, Pau, Brown, Edward M, Estrada, Karol, Ding, Jingzhong, Harris, Tamara B, Bandinelli, Stefania, Hernandez, Dena, Singleton, Andrew B, Girotto, Giorgia, Ruggiero, Daniela, d'Adamo, Adamo Pio, Robino, Antonietta, Meitinger, Thomas, Meisinger, Christa, Davies, Gail, Starr, John M, Chambers, John C, Boehm, Bernhard O, Winkelmann, Bernhard R, Huang, Jie, Murgia, Federico, Wild, Sarah H, Campbell, Harry, Morris, Andrew P, Franco, Oscar H, Hofman, Albert, Uitterlinden, Andre G, Rivadeneira, Fernando, Völker, Uwe, Hannemann, Anke, Biffar, Reiner, Hoffmann, Wolfgang, Shin, So-Youn, Lescuyer, Pierre, Henry, Hughes, Schurmann, Claudia, Munroe, Patricia B, Gasparini, Paolo, Pirastu, Nicola, Ciullo, Marina, Gieger, Christian, März, Winfried, Lind, Lars, Spector, Tim D, Smith, Albert V, Rudan, Igor, Wilson, James F, Polasek, Ozren, Deary, Ian J, Pirastu, Mario, Ferrucci, Luigi, Liu, Yongmei

“…Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated…”
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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…”
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A loss‐of‐function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa by de Oliveira, Ana Sofia Lima Estevao, de Siqueira, Roberta Cardoso, Nait‐Meddour, Cécile, Tricarico, Paola Maura, Moura, Ronald, Agrelli, Almerinda, d'Adamo, Adamo Pio, Jamain, Stéphane, Crovella, Sergio, de Fátima Medeiros Brito, Maria, Boniotto, Michele, Brandão, Lucas André Cavalcanti

“…Abstract Dowling Degos disease (DDD) is a rare autosomal dominant genodermatosis characterized by acquired, slowly progressive reticulated pigmented lesions…”
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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…”
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Neuron-Derived Extracellular Vesicles miRNA Profiles Identify Children Who Experience Adverse Events after Ketamine Administration for Procedural Sedation by Lucafò, Marianna, Bidoli, Carlotta, Franzin, Martina, Eitan, Erez, Rau, Sara, Amaddeo, Alessandro, Fachin, Alice, d'Adamo, Adamo Pio, Decorti, Giuliana, Stocco, Gabriele, Barbi, Egidio, Cozzi, Giorgio

“…Ketamine provides the highest safety profile among sedatives for procedural sedation and analgesia in the pediatric emergency setting. However, it can cause…”
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Systematic analysis of factors that improve homologous direct repair by Di Stazio, Mariateresa, Foschi, Nicola, Athanasakis, Emmanouil, Gasparini, Paolo, d'Adamo, Adamo Pio

“…The CRISPR/Cas9 bacterial system has proven to be an powerful tool for genetic manipulation in several organisms, but the efficiency of sequence replacement by…”
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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche by Perry, John R. B., Ferreira, Teresa, Chasman, Daniel I., Esko, Tõnu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q., Corre, Tanguy, Cousminer, Diana L., Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D., Kjellqvist, Sanela, Lunetta, Kathryn L., Porcu, Eleonora, Teumer, Alexander, Tikkanen, Emmi, Hottenga, Jouke-Jan, Pers, Tune H., Yerges-Armstrong, Laura M., Hua Zhao, Jing, Andrulis, Irene L., Anton-Culver, Hoda, Benitez, Javier, Blomqvist, Carl, Bolla, Manjeet K., Brenner, Hermann, Chang-Claude, Jenny, Chanock, Stephen, Chen, Jinhui, Chenevix-Trench, Georgia, Collée, J. Margriet, Davey Smith, George, Demerath, Ellen W., Dieffenbach, Aida K., Eriksson, Johan G., Flyger, Henrik, Franke, Lude, Gudbjartsson, Daniel F., Gudnason, Vilmundur, Guénel, Pascal, Guo, Suiqun, Hall, Per, Hartman, Catharina A., Heath, Andrew C., Hofman, Albert, Hooning, Maartje J., Hu, Frank B., Karasik, David, Kiel, Douglas P., Knight, Julia A., Kutalik, Zoltan, Lambrechts, Diether, Lindblom, Annika, Mägi, Reedik, Mannermaa, Arto, Martin, Nicholas G., Masson, Gisli, McArdle, Patrick F., Mihailov, Evelin, Nohr, Ellen A., Oostra, Ben A., Peacock, Munro, Peterlongo, Paolo, Peto, Julian, Postma, Dirkje S., Radice, Paolo, Rivadeneira, Fernando, Rose, Lynda M., Rudolph, Anja, Schlessinger, David, Sovio, Ulla, Tyrer, Jonathan, Vollenweider, Peter, Winqvist, Robert, Wolffenbuttel, Bruce H. R., Wright, Margaret J., Econs, Michael J., Loos, Ruth J. F., McCarthy, Mark I., Montgomery, Grant W., Rice, John P., Thorsteinsdottir, Unnur, van Duijn, Cornelia M., Alizadeh, Behrooz Z., Bergmann, Sven, Boerwinkle, Eric, Crisponi, Laura, Gasparini, Paolo, Gieger, Christian, Järvelin, Marjo-Riitta, Kraft, Peter, Ridker, Paul M., Snieder, Harold, Sørensen, Thorkild I. A., Spector, Tim D., Uitterlinden, André G., Zygmunt, Marek, Murray, Anna, Ong, Ken K.

“…Here 106 genomic loci associated with age at menarche, a marker of puberty timing in females, are identified; these loci show enrichment for genes involved in…”
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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,…”
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Genome‐wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA‐A03:01 allele by Magri, Chiara, Marchina, Eleonora, Sansone, Emanuele, D'Adamo, Adamo Pio, Cappellani, Stefania, Bonfanti, Carlo, Terlenghi, Luigina, Biasiotto, Giorgio, Zanella, Isabella, Sala, Emma, Caruso, Arnaldo, Lombardo, Massimo, Gasparini, Paolo, De Palma, Giuseppe, Gennarelli, Massimo

“…The remarkable variability of response to vaccines against SARS‐CoV‐2 is apparent. The present study aims to estimate the extent to which the host genetic…”
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22 ALTERED ANTIGEN PROCESSING AND PRESENTATION PATHWAY IN INTESTINAL EPITHELIAL CELLS IS THE TRIGGER OF CELIAC DISEASE INFLAMMATION by De Leo, Luigina, d'Adamo, Adamo Pio, Patrizi, Sara, Pin, Alessia, Ziberna, Fabiana, Fontana, Giorgia, Molinario, Giuseppe, Aloisio, Michelangelo, Bramuzzo, Matteo, Leo, Grazia Di, Lega, Sara, Villanacci, Vincenzo, Not, Tarcisio

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