Search Results - "d'Adamo, Pio"

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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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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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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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome by Pansuriya, Twinkal C, van Eijk, Ronald, d'Adamo, Pio, van Ruler, Maayke A J H, Kuijjer, Marieke L, Oosting, Jan, Cleton-Jansen, Anne-Marie, van Oosterwijk, Jolieke G, Verbeke, Sofie L J, Meijer, Daniëlle, van Wezel, Tom, Nord, Karolin H, Sangiorgi, Luca, Toker, Berkin, Liegl-Atzwanger, Bernadette, San-Julian, Mikel, Sciot, Raf, Limaye, Nisha, Kindblom, Lars-Gunnar, Daugaard, Soeren, Godfraind, Catherine, Boon, Laurence M, Vikkula, Miikka, Kurek, Kyle C, Szuhai, Karoly, French, Pim J, Bovée, Judith V M G

“…Judith Bovée and colleagues report the identification of somatic mosaic mutations in IDH1 and IDH2 in tumors from individuals with Ollier disease and Maffucci…”
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SDHAF1 , encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy by Uziel, Graziella, Ferrero, Ileana, Horvath, Rita, Lochmüller, Hanns, Strom, Tim M, Invernizzi, Federica, Goffrini, Paola, Gasparini, Paolo, Zeviani, Massimo, Klopstock, Thomas, Prokisch, Holger, Ghezzi, Daniele, D'Adamo, Pio

“…We report mutations in SDHAF1, encoding a new LYR-motif protein, in infantile leukoencephalopathy with defective succinate dehydrogenase (SDH, complex II)…”
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Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies by Zeviani, Massimo, Ghezzi, Daniele, Arzuffi, Paola, Zordan, Mauro, Da Re, Caterina, Lamperti, Costanza, Benna, Clara, D'Adamo, Pio, Diodato, Daria, Costa, Rodolfo, Mariotti, Caterina, Uziel, Graziella, Smiderle, Cristina

“…Although mutations in CYTB (cytochrome b) or BCS1L have been reported in isolated defects of mitochondrial respiratory chain complex III (cIII), most…”
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Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion by Carelli, Valerio, d'Adamo, Pio, Valentino, Maria Lucia, La Morgia, Chiara, Ross-Cisneros, Fred N, Caporali, Leonardo, Maresca, Alessandra, Loguercio Polosa, Paola, Barboni, Piero, De Negri, Annamaria, Sadun, Federico, Karanjia, Rustum, Salomao, Solange R, Berezovsky, Adriana, Chicani, Filipe, Moraes, Milton, Moraes Filho, Milton, Belfort, Jr, Rubens, Sadun, Alfredo A

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Genetic structure of Europeans: a view from the North-East by Nelis, Mari, Esko, Tõnu, Mägi, Reedik, Zimprich, Fritz, Zimprich, Alexander, Toncheva, Draga, Karachanak, Sena, Piskácková, Tereza, Balascák, Ivan, Peltonen, Leena, Jakkula, Eveliina, Rehnström, Karola, Lathrop, Mark, Heath, Simon, Galan, Pilar, Schreiber, Stefan, Meitinger, Thomas, Pfeufer, Arne, Wichmann, H-Erich, Melegh, Béla, Polgár, Noémi, Toniolo, Daniela, Gasparini, Paolo, D'Adamo, Pio, Klovins, Janis, Nikitina-Zake, Liene, Kucinskas, Vaidutis, Kasnauskiene, Jūrate, Lubinski, Jan, Debniak, Tadeusz, Limborska, Svetlana, Khrunin, Andrey, Estivill, Xavier, Rabionet, Raquel, Marsal, Sara, Julià, Antonio, Antonarakis, Stylianos E, Deutsch, Samuel, Borel, Christelle, Attar, Homa, Gagnebin, Maryline, Macek, Milan, Krawczak, Michael, Remm, Maido, Metspalu, Andres

“…Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single…”
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Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique 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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Variation in the Bitter‐taste Receptor Gene TAS2R38, and Adiposity in a Genetically Isolated Population in Southern Italy by Tepper, Beverly J., Koelliker, Yvonne, Zhao, Liqiang, Ullrich, Natalia V., Lanzara, Carmela, D'Adamo, Pio, Ferrara, Antonella, Ulivi, Sheila, Esposito, Laura, Gasparini, Paolo

“…Objective: Variation in the bitter‐taste receptor gene, TAS2R38 confers the ability to taste 6‐n‐propylthiouracil (PROP). The objective of this study was to…”
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Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase by Massa, Valeria, Fernandez-Vizarra, Erika, Alshahwan, Saad, Bakhsh, Eman, Goffrini, Paola, Ferrero, Ileana, Mereghetti, Paolo, D'Adamo, Pio, Gasparini, Paolo, Zeviani, Massimo

“…Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial…”
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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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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion by Marsano, René Massimiliano, Rötig, Agnes, Calvo, Sarah, Fernandez-Vizarra, Erika, Sarzi, Emmanuelle, Donnini, Claudia, Chan, Alicia, Carrara, Franco, Strisciuglio, Pietro, Spinazzola, Antonella, Viscomi, Carlo, D'Adamo, Pio, Parini, Rossella, DiMauro, Salvatore, Mootha, Vamsi K, Ferrero, Iliana, Tiranti, Valeria, Weiher, Hans, Gasparini, Paolo, Zeviani, Massimo

“…The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading…”
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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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Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological by Biino, Ginevra, Gasparini, Paolo, D'Adamo, Pio, Ciullo, Marina, Nutile, Teresa, Toniolo, Daniela, Sala, Cinzia, Minelli, Cosetta, Gögele, Martin, Balduini, Carlo L.

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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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A nonsense mutation of human XRCC4 is associated with adult‐onset progressive encephalocardiomyopathy by Bee, Leonardo, Nasca, Alessia, Zanolini, Alice, Cendron, Filippo, d'Adamo, Pio, Costa, Rodolfo, Lamperti, Costanza, Celotti, Lucia, Ghezzi, Daniele, Zeviani, Massimo

“…We studied two monozygotic twins, born to first cousins, affected by a multisystem disease. At birth, they both presented with bilateral cryptorchidism and…”
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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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