KCNK18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter TRESK channel activity Bằng Pavinato, L, Nematian-Ardestani, E, Zonta, A, De Rubeis, S, Buxbaum, J, Mancini, C, Bruselles, A, Tartaglia, M, Pessia, M, Tucker, SJ, D'Adamo, MC, Brusco, A

Niacin‐mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination Bằng Alessandra Bolino, Françoise Piguet, Valeria Alberizzi, Marta Pellegatta, Cristina Rivellini, Marta Guerrero‐Valero, Roberta Noseda, Chiara Brombin, Alessandro Nonis, Patrizia D'Adamo, Carla Taveggia, Stefano Carlo Previtali

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Assessment of 2-Pentadecyl-2-oxazoline Role on Lipopolysaccharide-Induced Inflammation on Early Stage Development of Zebrafish (<i>Danio rerio</i>) Bằng Davide Di Paola, Sabrina Natale, Enrico Gugliandolo, Marika Cordaro, Rosalia Crupi, Rosalba Siracusa, Ramona D’Amico, Roberta Fusco, Daniela Impellizzeri, Salvatore Cuzzocrea, Nunziacarla Spanò, Fabio Marino, Alessio Filippo Peritore

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The adipokine leptin modulates adventitial pericyte functions by autocrine and paracrine signalling Bằng Federica Riu, Sadie C. Slater, Eva Jover Garcia, Iker Rodriguez-Arabaolaza, Valeria Alvino, Elisa Avolio, Giuseppe Mangialardi, Andrea Cordaro, Simon Satchell, Carlo Zebele, Andrea Caporali, Gianni Angelini, Paolo Madeddu

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Formyl Peptide Receptor 1 Signaling in Acute Inflammation and Neural Differentiation Induced by Traumatic Brain Injury Bằng Roberta Fusco, Enrico Gugliandolo, Rosalba Siracusa, Maria Scuto, Marika Cordaro, Ramona D’Amico, Maurizio Evangelista, Angelo Peli, Alessio Filippo Peritore, Daniela Impellizzeri, Rosalia Crupi, Salvatore Cuzzocrea, Rosanna Di Paola

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Intestinal Disorder in Zebrafish Larvae (<i>Danio rerio</i>): The Protective Action of N-Palmitoylethanolamide-oxazoline Bằng Davide Di Paola, Sabrina Natale, Carmelo Iaria, Marika Cordaro, Rosalia Crupi, Rosalba Siracusa, Ramona D’Amico, Roberta Fusco, Daniela Impellizzeri, Salvatore Cuzzocrea, Nunziacarla Spanò, Enrico Gugliandolo, Alessio Filippo Peritore

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The periodical cicada four-year acceleration hypothesis revisited and the polyphyletic nature of Brood V, including an updated crowd-source enhanced map (Hemiptera: Cicadidae: Magi... Bằng John R. Cooley, Nidia Arguedas, Elias Bonaros, Gerry Bunker, Stephen M. Chiswell, Annette DeGiovine, Marten Edwards, Diane Hassanieh, Diler Haji, John Knox, Gene Kritsky, Carolyn Mills, Dan Mozgai, Roy Troutman, John Zyla, Hiroki Hasegawa, Teiji Sota, Jin Yoshimura, Chris Simon

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Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families Bằng Paolo Gresele, Emanuela Falcinelli, Silvia Giannini, Pio D’Adamo, Angela D’Eustacchio, Teresa Corazzi, Anna Maria Mezzasoma, Filomena Di Bari, Giuseppe Guglielmini, Luca Cecchetti, Patrizia Noris, Carlo L. Balduini, Anna Savoia

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A Cold Case of Equine Influenza Disentangled with Nanopore Sequencing Bằng Francesco Pellegrini, Alessio Buonavoglia, Ahmed H. Omar, Georgia Diakoudi, Maria S. Lucente, Amienwanlen E. Odigie, Alessio Sposato, Raffaella Augelli, Michele Camero, Nicola Decaro, Gabriella Elia, Krisztián Bányai, Vito Martella, Gianvito Lanave

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Early Exposure to Environmental Pollutants: Imidacloprid Potentiates Cadmium Toxicity on Zebrafish Retinal Cells Death Bằng Davide Di Paola, Enrico Gugliandolo, Fabiano Capparucci, Marika Cordaro, Carmelo Iaria, Rosalba Siracusa, Ramona D’Amico, Roberta Fusco, Daniela Impellizzeri, Salvatore Cuzzocrea, Rosanna Di Paola, Rosalia Crupi, Alessio Filippo Peritore

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Environmental Risk Assessment of Oxaliplatin Exposure on Early Life Stages of Zebrafish (<i>Danio rerio</i>) Bằng Davide Di Paola, Fabiano Capparucci, Jessica Maria Abbate, Marika Cordaro, Rosalia Crupi, Rosalba Siracusa, Ramona D’Amico, Roberta Fusco, Tiziana Genovese, Daniela Impellizzeri, Salvatore Cuzzocrea, Nunziacarla Spanò, Enrico Gugliandolo, Alessio Filippo Peritore

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Detection of <i>Salmonella</i> Reservoirs in Birds of Prey Hosted in an Italian Wildlife Centre: Molecular and Antimicrobial Resistance Characterisation Bằng Carlo Corradini, Andrea Francesco De Bene, Valeria Russini, Virginia Carfora, Patricia Alba, Gessica Cordaro, Matteo Senese, Giuliana Terracciano, Ilaria Fabbri, Alessandro Di Sirio, Fabiola Di Giamberardino, Pierpaolo Boria, Maria Laura De Marchis, Teresa Bossù

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A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release. Bằng Maria Cristina D'Adamo, Luigi Sforna, Sergio Visentin, Alessandro Grottesi, Llenio Servettini, Luca Guglielmi, Lara Macchioni, Simona Saredi, Maurizio Curcio, Chiara De Nuccio, Sonia Hasan, Lanfranco Corazzi, Fabio Franciolini, Marina Mora, Luigi Catacuzzeno, Mauro Pessia

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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 Channel Bằng Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D’Adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo

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Utilizing Cell-Free Urinary and Plasma Tumor DNA to Predict Pathologic Stage at Radical Cystectomy Bằng Prithvi B. Murthy, Billie Gould, Facundo Davaro, Pan Du, Lucia Camperlengo, Shreyas Naidu, Kyle Rose, Scott M. Gilbert, Philippe E. Spiess, Wade Sexton, G. Daniel Grass, Rohit Jain, Xuefeng Wang, Joshua J. Meeks, Andrea Necchi, Liang Cheng, Shidong Jia, Roger Li

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Aspirin-Triggered Resolvin D1 (AT-RvD1) Protects Mouse Skin against UVB-Induced Inflammation and Oxidative Stress Bằng Cristina P. B. Melo, Priscila Saito, Renata M. Martinez, Larissa Staurengo-Ferrari, Ingrid C. Pinto, Camilla C. A. Rodrigues, Stephanie Badaro-Garcia, Josiane A. Vignoli, Marcela M. Baracat, Allan J. C. Bussmann, Sandra R. Georgetti, Waldiceu A. Verri, Rubia Casagrande

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De novo point mutations in patients diagnosed with ataxic cerebral palsy Bằng Parolin Schnekenberg, R, Perkins, EM, Miller, JW, Davies, WIL, D'Adamo, M, Pessia, M, Fawcett, KA, Sims, D, Gillard, E, Hudspith, K, Skehel, P, Williams, J, O'Regan, M, Jayawant, S, Jefferson, R, Hughes, S, Lustenberger, A, Ragoussis, J, Jackson, M, Tucker, SJ, Németh, AH

Orthogonal proteogenomic analysis identifies the druggable PA2G4-MYC axis in 3q26 AML Bằng Matteo Marchesini, Andrea Gherli, Elisa Simoncini, Lucas Moron Dalla Tor, Anna Montanaro, Natthakan Thongon, Federica Vento, Chiara Liverani, Elisa Cerretani, Anna D’Antuono, Luca Pagliaro, Raffaella Zamponi, Chiara Spadazzi, Elena Follini, Benedetta Cambò, Mariateresa Giaimo, Angela Falco, Gabriella Sammarelli, Giannalisa Todaro, Sabrina Bonomini, Valentina Adami, Silvano Piazza, Claudia Corbo, Bruno Lorusso, Federica Mezzasoma, Costanza Anna Maria Lagrasta, Maria Paola Martelli, Roberta La Starza, Antonio Cuneo, Franco Aversa, Cristina Mecucci, Federico Quaini, Simona Colla, Giovanni Roti

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Meta-analysis of genome-wide association studies identifies six new loci for serum calcium concentrations Bằng Bonny, Olivier, 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, Bochud, Murielle, Hayward, Caroline, Lohman, Kurt, Gudnason, Vilmundur, Mace, Aurelien, Boerwinckle, Eric, Matsuda, Koichi, Padmanabhan, Sandosh, Firsov, Dmitri, Sorice, Rossella, Ulivi, Sheila, Brockhaus, A. Catharina, Mahajan, Anubha, Tanikawa, Chizu, Nakamura, Yusuke, Gaspoz, Jean-Michel, Theler, Jean-Marc, Bergmann, Sven, Vollenweider, Peter, Vitart, Veronique, Zemunik, Tatijana, Boban, Mladen, Kolcic, Ivana, Navarro, Pau, Estrada, Karol, Ding, Jingzhong, Bandinelli, Stefania, Hernandez, Dena, Girotto, Giorgia, Ruggiero, Daniela, Liu, Yongmei, Kestenbaum, Bryan, Nauck, Matthias, d'Adamo, Adamo Pio, Robino, Antonietta, Meitinger, Thomas, Meisinger, Christa, Davies, Gail, Huang, Jie, Murgia, Federico, Campbell, Harry, Hofman, Albert, Rivadeneira, Fernando, Völker, Uwe, Hannemann, Anke, Biffar, Reiner, Hoffmann, Wolfgang, Shin, So–Youn, Lescuyer, Pierre, Henry, Hughes, Schurmann, Claudia, Gasparini, Paolo, Pirastu, Nicola, Ciullo, Marina, Gieger, Christian, März, Winfried, Lind, Lars, Rudan, Igor, Polasek, Ozren, Pirastu, Mario, Ferrucci, Luigi, Kao, W. H. Linda, Wallaschofski, Henri, Kleber, Marcus E., Ernst, Florian D., Launer, Lenore J., Arking, Dan E., Brown, Morris J., Siscovick, David S., Psaty, Bruce M., Wild, Sarah H., Uitterlinden, Andre G., Wright, Alan F., Brown, Edward M., Harris, Tamara B., Singleton, Andrew B., Starr, John M., Boehm, Bernhard O., Winkelmann, Bernhard R., Deary, Ian J., Kooner, Jaspal S., Witteman, Jacqueline C. M., Fox, Caroline S., Morris, Andrew P., Franco, Oscar H., Munroe, Patricia B., Spector, Tim D., Smith, Albert V., Wilson, James F., O'Seaghdha, Conall M., Lopez, Lorna M., Chambers, John Campbell

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DETECÇÃO INCOMUM DO REARRANJO TCF3::ZNF384 EM UM PACIENTE PEDIÁTRICO COM LEUCEMIA MIELOIDE AGUDA Bằng CRS Nunes, LBA Lima, SH Nunes, MT Schramm, MM Garabal, LM Gutiyama, TS Fernandez, BE Gomes

“…É caracterizada por aberrações genético-moleculares e compreendem diferentes genes de fusão. Objetivo: : Relatar um caso incomum de um paciente pediátrico com LMA e a presença da fusão TCF3::ZNF384, associado às mutações no gene RAS e IKZF1, além de trissomia do cromossomo 8 e adicional do braço curto do cromossomo 12. …”
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