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Francesco Saettini
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Journal Articles

Decoding Transcriptomic Landscape and Molecular Pathways in DNAJC21 Deficiency

Francesco Saettini, Shreya Kanade, Fabiola Guerra, Benedetta Elena Di Majo, Francesca Vendemini, Federica Mottadelli, Grazia Fazio, Deborah D'Aliberti, Silvia Spinelli, Vincenzo L'Imperio, Albert Catala, Elena Laura Gonzalez-Forster, Maria Solsona, Josune Zubicaray, Julián Sevilla, Eva Galvez Villa, Andrea Biondi, Yigal Dror, Rocco Piazza
Journal: Blood
Blood (2024) 144 (Supplement 1): 5702.
https://doi.org/10.1182/blood-2024-209506
Published: 2024
Journal Articles

Investigating Neutropenia in FNIP1 Deficiency: A CRISPR/Cas9 Model in HL-60 Cells

Francesco Saettini, Fabiola Guerra, Benedetta Elena Di Majo, Mario Mauri, Federica Malighetti, Angela Maria Savino, Stefano Rebellato, Arnalda Lanfranchi, Cristina Bugarin, Cecilia Poli, Elma Nievas, Tim Niehues, Peter McNaughton, Selami Ulaş, Sven Kracker, Rocco Piazza, Grazia Fazio, Andrea Biondi
Journal: Blood
Blood (2024) 144 (Supplement 1): 2526.
https://doi.org/10.1182/blood-2024-209621
Published: 2024
Journal Articles

Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia

Francesco Saettini, Fabiola Guerra, Mario Mauri, Grazia Fazio, Cristina Bugarin, Manuel Quadri, Stefano Rebellato, Clizia Chinello, Lisa Pagani, Federica Malighetti, Luis González Gutiérrez-Solana, Vanna Denti, Fatemeh Emam Mousavi, Miquell Raspall-Chaure, Martin-Nalda Andrea, Estibaliz Barredo, David Adams, O'Leary Melanie, Precilla D'Souza, Ellen Macnamara, Sergio Rosenzweig, Hye Sun Kuehn, Jennifer Stoddard, Heather C Mefford, Giorgia Mandrile, Lisa Pavinato, Alfredo Brusco, Patricia Valentina Velez Santamaria, Aurora Pujol, Vincent Michaud, Agathe Roubertie, Zoe Nelson, Margaret P Adam, Bernice Lo, Holm Uhlig, Claire G Salter, Emma Baple, Andrew H Crosby, Sanil Bhatia, Fulvio Magni, Giuseppe Paglia, Giovanni Cazzaniga, Rocco Piazza, Andrea Biondi, Matteo Barberis
Journal: Blood
Blood (2023) 142 (Supplement 1): 153.
https://doi.org/10.1182/blood-2023-185551
Published: 2023
Journal Articles

Empagliflozin Modifies Neutrophils' Subsets in Patients with Glycogen Storage Disease Type Ib By Increasing Mature Neutrophils and Decreasing Immature Neutrophils

Fabiola Guerra, Serena Gasperini, Sonia Bonanomi, Viola Crescitelli, Liviana Da Dalt, Giuseppe D Norata, Marta Balzarini, Andrea Biondi, Andrea Baragetti, Francesco Saettini
Journal: Blood
Blood (2022) 140 (Supplement 1): 2614–2616.
https://doi.org/10.1182/blood-2022-168980
Published: 2022
Journal Articles

Phenotype and Natural History of ELANE and NON ELANE Severe Congenital Neutropenia in Italy: Data from the National Registry

Francesca Fioredda, Sabrina Zanardi, Martina Fragola, Marina Lanciotti, Pietro Casartelli, Caterina Zuccoli, Maddalena Marinoni, Andrea Finocchi, Francesco Saettini, Sonia Bonanomi, Federico Verzegnassi, Marta Pillon, Antonio Marzollo, Angelica Barone, Elena Mastrodicasa, Daniela Onofrillo, Laura Luti, Simone Cesaro, Alice Giacomazzi, Loredana Farinasso, Maria Licciardello, Giovanna Russo, Baldassarre Martire, Giuseppe Menna, Susanna Barella, Antonio Piroddi, Daniela Cuzzubbo, Marinella Veltroni, Gianluca Boscarol, Giovanni Palazzi, Nicola Tovaglieri, Angela Petrone, Piero Farruggia, Angela Guarina, Giulia Caracchia, LuciaDora Notarangelo, Carlo Dufour
Journal: Blood
Blood (2022) 140 (Supplement 1): 8331–8333.
https://doi.org/10.1182/blood-2022-166200
Published: 2022
Journal Articles

Prospective and Retrospective Observational Study in Adult and Pediatric Patients with GATA2 Variants (GATA2 Deficiency)

Samuele Roncareggi, Katia Girardi, Francesca Fioredda, Francesca Conti, Erika Borlenghi, Concetta Micalizzi, Gaia Mancuso, Fabiola Guerra, Emilia Cirillo, Antonio Marzollo, Piero Farruggia, Daniela Onofrillo, Riccardo Masetti, Raffaele Badolato, Luca Arcuri, Tiziana Angela Coliva, Francesca Vendemini, Claudio Pignata, Sonia Bonanomi, Andrea Biondi, Francesco Saettini
Journal: Blood
Blood (2022) 140 (Supplement 1): 2957–2959.
https://doi.org/10.1182/blood-2022-168771
Published: 2022
Journal Articles

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Brief Report
Francesco Saettini, Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio C. Orellana, Grazia Fazio, Fred H. Rodriguez, III, Loreani P. Noguera, Claire Booth, Valentina Jarur-Chamy, Marissa Shams, Maria Iascone, Maja Vukic, Serena Gasperini, Manuel Quadri, Amairelys Barroeta Seijas, Elizabeth Rivers, Mario Mauri, Raffaele Badolato, Gianni Cazzaniga, Cristina Bugarin, Giuseppe Gaipa, Wilma G. M. Kroes, Daniele Moratto, Monique M. van Oostaijen-ten Dam, Frank Baas, Silvère van der Maarel, Rocco Piazza, Zeynep H. Coban-Akdemir, James R. Lupski, Bo Yuan, Ivan K. Chinn, Lucia Daxinger, Andrea Biondi
Journal: Blood
Blood (2021) 137 (4): 493–499.
https://doi.org/10.1182/blood.2020006441
Published: 2021
Includes: Supplemental data