Search Results - "Gasparini ‡‡, Paolo"

A general approach for haplotype phasing across the full spectrum of relatedness by O'Connell, Jared, Gurdasani, Deepti, Delaneau, Olivier, Pirastu, Nicola, Ulivi, Sheila, Cocca, Massimiliano, Traglia, Michela, Huang, Jie, Huffman, Jennifer E, Rudan, Igor, McQuillan, Ruth, Fraser, Ross M, Campbell, Harry, Polasek, Ozren, Asiki, Gershim, Ekoru, Kenneth, Hayward, Caroline, Wright, Alan F, Vitart, Veronique, Navarro, Pau, Zagury, Jean-Francois, Wilson, James F, Toniolo, Daniela, Gasparini, Paolo, Soranzo, Nicole, Sandhu, Manjinder S, Marchini, Jonathan

“…Many existing cohorts contain a range of relatedness between genotyped individuals, either by design or by chance. Haplotype estimation in such cohorts is a…”
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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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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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Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies by Paldino, Alessia, Dal Ferro, Matteo, Stolfo, Davide, Gandin, Ilaria, Medo, Kristen, Graw, Sharon, Gigli, Marta, Gagno, Giulia, Zaffalon, Denise, Castrichini, Matteo, Masè, Marco, Cannatà, Antonio, Brun, Francesca, Storm, Garrett, Severini, Giovanni Maria, Lenarduzzi, Stefania, Girotto, Giorgia, Gasparini, Paolo, Bortolotti, Francesca, Giacca, Mauro, Zacchigna, Serena, Merlo, Marco, Taylor, Matthew R G, Mestroni, Luisa, Sinagra, Gianfranco

“…Diverse genetic backgrounds often lead to phenotypic heterogeneity in cardiomyopathies (CMPs). Previous genotype-phenotype studies have primarily focused on…”
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Seismic reflections reveal a massive melt layer feeding Campi Flegrei caldera by Zollo, Aldo, Maercklin, Nils, Vassallo, Maurizio, Dello Iacono, Dario, Virieux, Jean, Gasparini, Paolo

“…Campi Flegrei is an active, resurgent caldera that is located a few kilometres west of the city of Naples, a densely populated urban settlement in southern…”
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Large-scale GWAS of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits by May-Wilson, Sebastian, Matoba, Nana, Wade, Kaitlin H., Hottenga, Jouke-Jan, Concas, Maria Pina, Mangino, Massimo, Grzeszkowiak, Eryk J., Menni, Cristina, Gasparini, Paolo, Timpson, Nicholas J., Veldhuizen, Maria G., de Geus, Eco, Wilson, James F., Pirastu, Nicola

“…We present the results of a GWAS of food liking conducted on 161,625 participants from the UK-Biobank. Liking was assessed over 139 specific foods using a…”
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Coarse-grained/molecular mechanics of the TAS2R38 bitter taste receptor: experimentally-validated detailed structural prediction of agonist binding by Marchiori, Alessandro, Capece, Luciana, Giorgetti, Alejandro, Gasparini, Paolo, Behrens, Maik, Carloni, Paolo, Meyerhof, Wolfgang

“…Bitter molecules in humans are detected by ∼25 G protein-coupled receptors (GPCRs). The lack of atomic resolution structure for any of them is complicating an…”
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Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal by Risso, Davide S., Mezzavilla, Massimo, Pagani, Luca, Robino, Antonietta, Morini, Gabriella, Tofanelli, Sergio, Carrai, Maura, Campa, Daniele, Barale, Roberto, Caradonna, Fabio, Gasparini, Paolo, Luiselli, Donata, Wooding, Stephen, Drayna, Dennis

“…The ability to taste phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) is a polymorphic trait mediated by the TAS2R38 bitter taste receptor gene. It…”
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Age- and sex-related variations in platelet count in Italy: a proposal of reference ranges based on 40987 subjects' data by Biino, Ginevra, Santimone, Iolanda, Minelli, Cosetta, Sorice, Rossella, Frongia, Bruno, Traglia, Michela, Ulivi, Sheila, Di Castelnuovo, Augusto, Gögele, Martin, Nutile, Teresa, Francavilla, Marcella, Sala, Cinzia, Pirastu, Nicola, Cerletti, Chiara, Iacoviello, Licia, Gasparini, Paolo, Toniolo, Daniela, Ciullo, Marina, Pramstaller, Peter, Pirastu, Mario, de Gaetano, Giovanni, Balduini, Carlo L

“…Although several studies demonstrated that platelet count is higher in women, decreases with age, and is influenced by genetic background, most clinical…”
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A Brief Review of Genetic Approaches to the Study of Food Preferences: Current Knowledge and Future Directions by Robino, Antonietta, Concas, Maria Pina, Catamo, Eulalia, Gasparini, Paolo

“…Genetic variation plays a crucial role in individual differences in food preferences which ultimately influence food selection and health. Our current…”
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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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Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations by Xue, Yali, Mezzavilla, Massimo, Haber, Marc, McCarthy, Shane, Chen, Yuan, Narasimhan, Vagheesh, Gilly, Arthur, Ayub, Qasim, Colonna, Vincenza, Southam, Lorraine, Finan, Christopher, Massaia, Andrea, Chheda, Himanshu, Palta, Priit, Ritchie, Graham, Asimit, Jennifer, Dedoussis, George, Gasparini, Paolo, Palotie, Aarno, Ripatti, Samuli, Soranzo, Nicole, Toniolo, Daniela, Wilson, James F., Durbin, Richard, Tyler-Smith, Chris, Zeggini, Eleftheria

“…The genetic features of isolated populations can boost power in complex-trait association studies, and an in-depth understanding of how their genetic variation…”
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Factors Influencing the Phenotypic Characterization of the Oral Marker, PROP by Tepper, Beverly J, Melis, Melania, Koelliker, Yvonne, Gasparini, Paolo, Ahijevych, Karen L, Tomassini Barbarossa, Iole

“…In the last several decades, the genetic ability to taste the bitter compound, 6- -propyltiouracil (PROP) has attracted considerable attention as a model for…”
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The thermal regime of the Campi Flegrei magmatic system reconstructed through 3D numerical simulations by Di Renzo, Valeria, Wohletz, Kenneth, Civetta, Lucia, Moretti, Roberto, Orsi, Giovanni, Gasparini, Paolo

“…We illustrate a quantitative conductive/convective thermal model incorporating a wide range of geophysical, petrological, geological, geochemical and…”
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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss by Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia

“…Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts,…”
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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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Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway by Fetoni, Anna Rita, Zorzi, Veronica, Paciello, Fabiola, Ziraldo, Gaia, Peres, Chiara, Raspa, Marcello, Scavizzi, Ferdinando, Salvatore, Anna Maria, Crispino, Giulia, Tognola, Gabriella, Gentile, Giulia, Spampinato, Antonio Gianmaria, Cuccaro, Denis, Guarnaccia, Maria, Morello, Giovanna, Van Camp, Guy, Fransen, Erik, Brumat, Marco, Girotto, Giorgia, Paludetti, Gaetano, Gasparini, Paolo, Cavallaro, Sebastiano, Mammano, Fabio

“…Mutations in GJB2, the gene that encodes connexin 26 (Cx26), are the most common cause of sensorineural hearing impairment. The truncating variant 35delG,…”
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A genome‐wide association study identifies an association between variants in EFCAB4B gene and periodontal disease in an Italian isolated population by Bevilacqua, Lorenzo, Navarra, Chiara O., Pirastu, Nicola, Lenarda, Roberto Di, Gasparini, Paolo, Robino, Antonietta

“…Background and Objective Periodontitis in one of the most prevalent dental diseases. Despite numerous studies have investigated its aetiopathogenetic factors,…”
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A population-based approach to study the impact of PROP perception on food liking in populations along the Silk Road by Robino, Antonietta, Mezzavilla, Massimo, Pirastu, Nicola, Dognini, Maddalena, Tepper, Beverly J, Gasparini, Paolo

“…Taste is one of the main factors determining food choices. Differences in PROP bitter taste perception have been implicated in individual differences in food…”
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