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A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review 一种复杂的神经发育表型，类似于染色质病，伴有7p重复和10p缺失并涉及ZMYND11：病例报告与文献综述 Minale, Elia Marco Paolo; Martone, Stefania; Criscuolo, Chiara; Marra, Roberta; Lasorsa, Vito Alessandro; Ruggiero, Raffaella; Suero, Teresa; Capasso, Mario; Andolfo, Immacolata; Iolascon, Achille; Russo, Roberta; Pinelli, Michele 分享 收藏
The Non-Coding Regulatory Variant rs2863002 at chr11p11.2 Increases Neuroblastoma Risk by Affecting HSD17B12 Expression and Lipid Metabolism chr11p11.2位点的非编码调控变异rs2863002通过影响HSD17B12的表达和脂质代谢来增加神经母细胞瘤的风险。 Maiorino, Teresa; Avitabile, Marianna; Aievola, Vincenzo; Montella, Annalaura; Lasorsa, Vito A.; Bonfiglio, Ferdinando; Cantalupo, Mariagrazia; Cantalupo, Sueva; Estinto, Gilda; Tirelli, Matilde; Morini, Martina; Ardito, Martina; Eva, Alessandra; Cerbone, Vincenza; Mauriello, Lucia; Caterino, Marianna; Ruoppolo, Margherita; Maris, John M.; Diskin, Sharon J.; Iolascon, Achille; Capasso, Mario 分享 收藏
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Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy VPS13A缺乏导致的骨骼肌过早衰老与自噬功能障碍有关 Riccardi, V; Viscomi, CF; Sandri, M; D'Alessandro, A; Dzieciatkowska, M; Stephenson, D; Federti, E; Hermann, A; Salviati, L; Siciliano, A; Andolfo, I; Alper, SL; Ceolan, J; Iolascon, A; Vattemi, G; Danek, A; Walker, RH; Mensch, A; Otto, M; Deschauer, M; Armbrust, M; Beninca, C; Salari, V; Fabene, P; Peikert, K; De Franceschi, L 分享 收藏
COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet Velasco Puyo, Pablo; Christou, Soteroula; Campisi, Saveria; Rodriguez-Sanchez, Maria A.; Reidel, Sara; Perez-Hoyo, Santiago; Mota, Miriam; Savvidou, Irene; Rekleiti, Anna; Salvo, Alessandra; Voi, Vincenzo; Ferrero, Giovanni Battista; Mandrile, Giorgia; Gaglioti, Carmen Maria; Cela, Elena; Ponce-Salas, Beatriz; Bardon-Cancho, Eduardo J.; Flevari, Pagona; Voskaridou-Dimoula, Ersi; Nur, Erfan; Biemond, Bart J.; Delaporta, Polynexi; Beneitez-Pastor, David; Collado Gimbert, Anna; Spasiano, Anna; Besse-Hammer, Tatiana; Lafiatis, Ioannis G.; Dedeken, Laurence; Raso, Simona; Ruiz-Llobet, Anna; Bagnato, Sabrina; Labarque, Veerle; Glenthoj, Andreas; Ruffo, Giovan Battista; Guerzoni, Maria Elena; Hafraoui, Kaoutar; Pistoia, Laura; Rosso, Rosamaria; Tagliaferri, Laura; Gonzalez-Urdiales, Paula; Benghiat, Fleur Samantha; de Montalembert, Mariane; Teles, Maria Jose; Vanderfaeillie, Anna; Bertoni, Elisa; Cuzzubbo, Daniela; Ferreira, Teresa; Saunders, Christopher J.; Stiakaki, Eftichia; van de Velde, Ann L.; Diamantidis, Michael D.; Kerkhoffs, Jean-Louis H.; Oliveira, Marisa I.; Quota, Alessandra; Russo, Roberta; Van Damme, An; Argueello Marina, Maria; Lorite Reggiori, Mikael; Rijneveld, Anita W.; Rodriguez Gallego, Alexis; Colombatti, Raffaella; Iolascon, Achille; Taher, Ali; Gulbis, Beatrice; Roy, Noemi B. A.; Manu-Pereira, Maria del Mar 分享 收藏
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RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis RAS信号通路在调节脱水遗传性口细胞增多症PIEZO1-mediated肝铁过载中至关重要 Rosato, Barbara Eleni; D'Onofrio, Vanessa; Marra, Roberta; Nostroso, Antonella; Esposito, Federica Maria; Iscaro, Anthony; Lasorsa, Vito Alessandro; Capasso, Mario; Iolascon, Achille; Russo, Roberta; Andolfo, Immacolata 分享 收藏
Novel cellular models of SLC25A38-related congenital sideroblastic anemia shed light on mitochondrial physiology and pave the way for therapeutic strategies Palmieri, Luigi; Santoro, Antonella; De Santis, Silvia; Vozza, Angelo; Andolfo, Immacolata; Russo, Roberta; Fiermonte, Giuseppe; Iolascon, Achille; Paradies, Eleonora; Marobbio, Carlo Marya Thomas 分享 收藏
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Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia 铁缺乏及缺铁性贫血的诊断、治疗与预防建议 Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta; Sanchez, Mayka; Busti, Fabiana; Swinkels, Dorine; Aguilar Martinez, Patricia; Bou-Fakhredin, Rayan; Muckenthaler, Martina U.; Unal, Sule; Porto, Graca; Ganz, Tomas; Kattamis, Antonis; De Franceschi, Lucia; Cappellini, Maria Domenica; Munro, Malcolm G.; Taher, Ali 分享 收藏
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Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication de Antonellis, Pasqualino; Ferrucci, Veronica; Miceli, Marco; Bibbo, Francesca; Asadzadeh, Fatemeh; Gorini, Francesca; Mattivi, Alessia; Boccia, Angelo; Russo, Roberta; Andolfo, Immacolata; Lasorsa, Vito Alessandro; Cantalupo, Sueva; Fusco, Giovanna; Viscardi, Maurizio; Brandi, Sergio; Cerino, Pellegrino; Monaco, Vittoria; Choi, Dong-Rac; Cheong, Jae-Ho; Iolascon, Achille; Amente, Stefano; Monti, Maria; Fava, Luca L.; Capasso, Mario; Kim, Hong-Yeoul; Zollo, Massimo 分享 收藏
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients Marra, Roberta; Nostroso, Antonella; Rosato, Barbara Eleni; Esposito, Federica Maria; D'Onofrio, Vanessa; Iscaro, Anthony; Gambale, Antonella; Bruschi, Barbara; Coccia, Paola; Poloni, Antonella; Unal, Sule; Romano, Alberto; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta 分享 收藏
Noncoding regulatory mutations as driving event for the oncogenic core regulatory circuitries of neuroblastoma Capasso, Mario; Aievola, Vincenzo; Lasorsa, Vito Alessandro; Montella, Annalaura; Bonfiglio, Ferdinando; Avitabile, Marianna; Maiorino, Teresa; Tirelli, Matilde; D'Alterio, Giuseppe; Fischer, Matthias; Westermann, Frank; Iolascon, Achille 分享 收藏
From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models 从确定可行的分子靶标到产生忠实的神经母细胞瘤患者衍生的临床前模型 Capasso, Mario; Brignole, Chiara; Lasorsa, Vito A.; Bensa, Veronica; Cantalupo, Sueva; Sebastiani, Enrico; Quattrone, Alessandro; Ciampi, Eleonora; Avitabile, Marianna; Sementa, Angela R.; Mazzocco, Katia; Cafferata, Barbara; Gaggero, Gabriele; Vellone, Valerio G.; Cilli, Michele; Calarco, Enzo; Giusto, Elena; Perri, Patrizia; Aveic, Sanja; Fruci, Doriana; Tondo, Annalisa; Luksch, Roberto; Mura, Rossella; Rabusin, Marco; De Leonardis, Francesco; Cellini, Monica; Coccia, Paola; Iolascon, Achille; Corrias, Maria V.; Conte, Massimo; Garaventa, Alberto; Amoroso, Loredana; Ponzoni, Mirco; Pastorino, Fabio 分享 收藏
Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis Mitapivat在遗传性球形红细胞增多症的小鼠模型中重新编程RBC代谢组并改善贫血 Matte, Alessandro; Wilson, Anand B.; Gevi, Federica; Federti, Enrica; Recchiuti, Antonio; Ferri, Giulia; Brunati, Anna Maria; Pagano, Mario Angelo; Russo, Roberta; Leboeuf, Christophe; Janin, Anne; Timperio, Anna Maria; Iolascon, Achille; Gremese, Elisa; Dang, Lenny; Mohandas, Narla; Brugnara, Carlo; De Franceschi, Lucia 分享 收藏
Phenotyping neuroblastoma cells through intelligent scrutiny of stain-free biomarkers in holographic flow cytometry 通过全息流式细胞仪中无染色生物标志物的智能检查对神经母细胞瘤细胞进行表型分析 Pirone, Daniele; Montella, Annalaura; Sirico, Daniele; Mugnano, Martina; Del Giudice, Danila; Kurelac, Ivana; Tirelli, Matilde; Iolascon, Achille; Bianco, Vittorio; Memmolo, Pasquale; Capasso, Mario; Miccio, Lisa; Ferraro, Pietro 分享 收藏
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