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Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop de Ruiter, Ruben D.; Smilde, Bernard J.; Pals, Gerard; Bravenboer, Nathalie; Knaus, Petra; Schoenmaker, Ton; Botman, Esmee; Sanchez-Duffhues, Gonzalo; Pacifici, Maurizio; Pignolo, Robert J.; Shore, Eileen M.; van Egmond, Marjolein; Van Oosterwyck, Hans; Kaplan, Frederick S.; Hsiao, Edward C.; Yu, Paul B.; Bocciardi, Renata; De Cunto, Carmen Laura; Delai, Patricia Longo Ribeiro; de Vries, Teun J.; Hilderbrandt, Susanne; Jaspers, Richard T.; Keen, Richard; Koolwijk, Peter; Morhart, Rolf; Netelenbos, Jan C.; Rustemeyer, Thomas; Scott, Christiaan; Stockklausner, Clemens; Ten Dijke, Peter; Triffit, James; Ventura, Francesc; Ravazzolo, Roberto; Micha, Dimitra; Eekhoff, Elisabeth M. W. 分享 收藏
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Severe Heterotopic Ossification in the Skeletal Muscle and Endothelial Cells Recruitment to Chondrogenesis Are Enhanced by Monocyte/Macrophage Depletion Tirone, Mario; Giovenzana, Anna; Vallone, Arianna; Zordan, Paola; Sormani, Martina; Nicolosi, Pier Andrea; Meneveri, Raffaela; Gigliotti, Carmen Rosaria; Spinelli, Antonello E.; Bocciardi, Renata; Ravazzolo, Roberto; Cifola, Ingrid; Brunelli, Silvia 分享 收藏
Thymosin α-1 does not correct F508del-CFTR in cystic fibrosis airway epithelia (vol 3, e98699, 2018) Tomati, Valeria; Caci, Emanuela; Ferrera, Loretta; Pesce, Emanuela; Sondo, Elvira; Cholon, Deborah M.; Quinney, Nancy L.; Boyles, Susan E.; Armirotti, Andrea; Ravazzolo, Roberto; Galietta, Luis J. V.; Gentzsch, Martina; Pedemonte, Nicoletta 分享 收藏
Pharmacological Inhibition of the Ubiquitin Ligase RNF5 Rescues F508del-CFTR in Cystic Fibrosis Airway Epithelia Sondo, Elvira; Falchi, Federico; Caci, Emanuela; Ferrera, Loretta; Giacomini, Elisa; Pesce, Emanuela; Tomati, Valeria; Bertozzi, Sine Mandrup; Goldoni, Luca; Armirotti, Andrea; Ravazzolo, Roberto; Cavalli, Andrea; Pedemonte, Nicoletta 分享 收藏
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Thymosin α-1 does not correct F508del-CFTR in cystic fibrosis airway epithelia Tomati, Valeria; Caci, Emanuela; Ferrera, Loretta; Pesce, Emanuela; Sondo, Elvira; Cholon, Deborah M.; Quinney, Nancy L.; Boyles, Susan E.; Armirotti, Andrea; Ravazzolo, Roberto; Galietta, Luis J. V.; Gentzsch, Martina; Pedemonte, Nicoletta 分享 收藏
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia Bossi, Simone; Musante, Ilaria; Bonfiglio, Tommaso; Bonifacino, Tiziana; Emionite, Laura; Cerminara, Maria; Cervetto, Chiara; Marcoli, Manuela; Bonanno, Giambattista; Ravazzolo, Roberto; Pittaluga, Anna; Puliti, Aldamaria 分享 收藏
High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel Tomati, Valeria; Pesce, Emanuela; Caci, Emanuela; Sondo, Elvira; Scudieri, Paolo; Marini, Monica; Amato, Felice; Castaldo, Giuseppe; Ravazzolo, Roberto; Galietta, Luis J. V.; Pedemonte, Nicoletta 分享 收藏
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization Lasiglie, Denise; Mensa-Vilaro, Anna; Ferrera, Denise; Caorsi, Roberta; Penco, Federica; Santamaria, Giuseppe; Di Duca, Marco; Amico, Giulia; Nakagawa, Kenji; Antonini, Francesca; Tommasini, Alberto; Consolini, Rita; Insalaco, Antonella; Cattalini, Marco; Obici, Laura; Gallizzi, Romina; Santarelli, Francesca; del Zotto, Genny; Severino, Mariasavina; Rubartelli, Anna; Ravazzolo, Roberto; Martini, Alberto; Ceccherini, Isabella; Nishikomori, Ryuta; Gattorno, Marco; Arostegui, Juan I.; Borghini, Silvia 分享 收藏
Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization Musante, Ilaria; Mattinzoli, Deborah; Otescu, Lavinia Alexandra; Bossi, Simone; Ikehata, Masami; Gentili, Chiara; Cangemi, Giuliana; Gatti, Cinzia; Emionite, Laura; Messa, Piergiorgio; Ravazzolo, Roberto; Rastaldi, Maria Pia; Riccardi, Daniela; Puliti, Aldamaria 分享 收藏
Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release Gorrieri, Giulia; Scudieri, Paolo; Caci, Emanuela; Schiavon, Marco; Tomati, Valeria; Sirci, Francesco; Napolitano, Francesco; Carrella, Diego; Gianotti, Ambra; Musante, Ilaria; Favia, Maria; Casavola, Valeria; Guerra, Lorenzo; Rea, Federico; Ravazzolo, Roberto; Di Bernardo, Diego; Galietta, Luis J. V. 分享 收藏
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva (vol 9, pg 685, 2016) Cappato, Serena; Tonachini, Laura; Giacopelli, Francesca; Tirone, Mario; Galietta, Luis J. V.; Sormani, Martina; Giovenzana, Anna; Spinelli, Antonello E.; Canciani, Barbara; Brunelli, Silvia; Ravazzolo, Roberto; Bocciardi, Renata 分享 收藏
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Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases Rusmini, Marta; Federici, Silvia; Caroli, Francesco; Grossi, Alice; Baldi, Maurizia; Obici, Laura; Insalaco, Antonella; Tommasini, Alberto; Caorsi, Roberta; Gallo, Eleonora; Olivieri, Alma Nunzia; Marzano, AngeloValerio; Coviello, Domenico; Ravazzolo, Roberto; Martini, Alberto; Gattorno, Marco; Ceccherini, Isabella 分享 收藏
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva Cappato, Serena; Tonachini, Laura; Giacopelli, Francesca; Tirone, Mario; Galietta, Luis J. V.; Sormani, Martina; Giovenzana, Anna; Spinelli, Antonello E.; Canciani, Barbara; Brunelli, Silvia; Ravazzolo, Roberto; Bocciardi, Renata 分享 收藏
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction Matera, Ivana; Rusmini, Marta; Guo, Yiran; Lerone, Margherita; Li, Jiankang; Zhang, Jianguo; Di Duca, Marco; Nozza, Paolo; Mosconi, Manuela; Prato, Alessio Pini; Martucciello, Giuseppe; Barabino, Arrigo; Morandi, Francesco; De Giorgio, Roberto; Stanghellini, Vincenzo; Ravazzolo, Roberto; Devoto, Marcella; Hakonarson, Hakon; Ceccherini, Isabella 分享 收藏
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism Panza, Emanuele; Escamilla-Honrubia, Juan M.; Marco-Marin, Clara; Gougeard, Nadine; De Michele, Giuseppe; Morra, Vincenzo Brescia; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Nemeth, Andrea H.; Smithson, Sarah; Davies, Sally; Hurst, Jane A.; Bordo, Domenico; Rubio, Vicente; Seri, Marco 分享 收藏
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