Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders
Coppola, Simona, Insalaco, Antonella, Zara, Erika, Di Rocco, Martina, Marafon, Denise Pires, Spadaro, Francesca, Pannone, Luca, Farina, Luciapia, Pasquini, Luca, Martinelli, Simone, De Benedetti, Fabrizio, Tartaglia, Marco
Published in Journal of allergy and clinical immunology (01.07.2022)
Published in Journal of allergy and clinical immunology (01.07.2022)
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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Fasano, Giulia, Muto, Valentina, Radio, Francesca Clementina, Venditti, Martina, Mosaddeghzadeh, Niloufar, Coppola, Simona, Paradisi, Graziamaria, Zara, Erika, Bazgir, Farhad, Ziegler, Alban, Chillemi, Giovanni, Bertuccini, Lucia, Tinari, Antonella, Vetro, Annalisa, Pantaleoni, Francesca, Pizzi, Simone, Conti, Libenzio Adrian, Petrini, Stefania, Bruselles, Alessandro, Prandi, Ingrid Guarnetti, Mancini, Cecilia, Chandramouli, Balasubramanian, Barth, Magalie, Bris, Céline, Milani, Donatella, Selicorni, Angelo, Macchiaiolo, Marina, Gonfiantini, Michaela V., Bartuli, Andrea, Mariani, Riccardo, Curry, Cynthia J., Guerrini, Renzo, Slavotinek, Anne, Iascone, Maria, Dallapiccola, Bruno, Ahmadian, Mohammad Reza, Lauri, Antonella, Tartaglia, Marco
Published in Nature communications (11.11.2022)
Published in Nature communications (11.11.2022)
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Pro Nerve Growth Factor and Its Receptor p75NTR Activate Inflammatory Responses in Synovial Fibroblasts: A Novel Targetable Mechanism in Arthritis
Farina, Luciapia, Minnone, Gaetana, Alivernini, Stefano, Caiello, Ivan, MacDonald, Lucy, Soligo, Marzia, Manni, Luigi, Tolusso, Barbara, Coppola, Simona, Zara, Erika, Conti, Libenzio Adrian, Aquilani, Angela, Magni-Manzoni, Silvia, Kurowska-Stolarska, Mariola, Gremese, Elisa, De Benedetti, Fabrizio, Bracci-Laudiero, Luisa
Published in Frontiers in immunology (04.03.2022)
Published in Frontiers in immunology (04.03.2022)
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Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
Priolo, Manuela, Zara, Erika, Radio, Francesca Clementina, Ciolfi, Andrea, Spadaro, Francesca, Bellacchio, Emanuele, Mancini, Cecilia, Pantaleoni, Francesca, Cordeddu, Viviana, Chiriatti, Luigi, Niceta, Marcello, Africa, Emilio, Mammì, Corrado, Melis, Daniela, Coppola, Simona, Tartaglia, Marco
Published in European journal of human genetics : EJHG (01.07.2023)
Published in European journal of human genetics : EJHG (01.07.2023)
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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco
Published in Human molecular genetics (23.08.2022)
Published in Human molecular genetics (23.08.2022)
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