Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies von Balestra, Dario, Branchini, Alessio

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Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches von Lombardi, Silvia, Testa, Maria Francesca, Pinotti, Mirko, Branchini, Alessio

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Prime editing-mediated correction of the CFTR W1282X mutation in iPSCs and derived airway epithelial cells von Li, Chao, Liu, Zhong, Anderson, Justin, Liu, Zhongyu, Tang, Liping, Li, Yao, Peng, Ning, Chen, Jianguo, Liu, Xueming, Fu, Lianwu, Townes, Tim M, Rowe, Steven M, Bedwell, David M, Guimbellot, Jennifer, Zhao, Rui

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Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric β-Galactosidase correctors von Rudinskiy, Mikhail, Pons-Vizcarra, Maria, Soldà, Tatiana, Fregno, Ilaria, Bergmann, Timothy Jan, Ruano, Ana, Delgado, Aida, Morales, Sara, Barril, Xavier, Bellotto, Manolo, Cubero, Elena, García-Collazo, Ana María, Pérez-Carmona, Natalia, Molinari, Maurizio

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Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants von Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Mazzola, Pascale, Kieninger, Sinja, Xiao, Ting, Kellner, Ulrich, Neuhann, Teresa, Kelbsch, Carina, Tonagel, Felix, Wilhelm, Helmut, Kohl, Susanne, Wissinger, Bernd

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Differences in coagulation-relevant parameters: Comparing cryoprecipitate and a human fibrinogen concentrate von Stanford, Sophia, Roy, Ashok, Cecil, Tom, Hegener, Oliver, Schulz, Petra, Turaj, Anna, Lim, Sean, Arbuthnot, Emily

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Thrombin generation, bleeding and hemostasis in humans: Protocol for a scoping review of the literature von Shaw, Joseph R, James, Tyler, Douxfils, Jonathan, Dargaud, Yesim, Levy, Jerrold H, Brinkman, Herm Jan M, Shorr, Risa, Siegal, Deborah, Castellucci, Lana A, Gross, Peter, Khalife, Roy, Sperling, Christine, Page, David, Fergusson, Dean, Carrier, Marc

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Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene von Palomar-Siles, Mireia, Yurevych, Viktor, Bykov, Vladimir J. N, Wiman, Klas G

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Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience von Effraimidis, Grigoris, Rasmussen, Åse Krogh, Dunoe, Morten, Hasholt, Lis F, Wibrand, Flemming, Sorensen, Soren S, Lund, Allan M, Kober, Lars, Bundgaard, Henning, Yazdanfard, Puriya D W, Oturai, Peter, Larsen, Vibeke A, Fraga de Abreu, Vitor Hugo, Enevoldsen, Lotte Hahn, Kristensen, Tatiana, Svenstrup, Kirsten, Bille, Margrethe Bastholm, Arif, Farah, Mogensen, Mette, Klokker, Mads, Backer, Vibeke, Kistorp, Caroline, Feldt-Rasmussen, Ulla

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Hard surface biocontrol in hospitals using microbial-based cleaning products von Vandini, Alberta, Temmerman, Robin, Frabetti, Alessia, Caselli, Elisabetta, Antonioli, Paola, Balboni, Pier Giorgio, Platano, Daniela, Branchini, Alessio, Mazzacane, Sante

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Impact of a Probiotic-Based Cleaning Intervention on the Microbiota Ecosystem of the Hospital Surfaces: Focus on the Resistome Remodulation von Caselli, Elisabetta, D'Accolti, Maria, Vandini, Alberta, Lanzoni, Luca, Camerada, Maria Teresa, Coccagna, Maddalena, Branchini, Alessio, Antonioli, Paola, Balboni, Pier Giorgio, Di Luca, Dario, Mazzacane, Sante

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Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association von Testa, Maria Francesca, Lombardi, Silvia, Bernardi, Francesco, Ferrarese, Mattia, Belvini, Donata, Radossi, Paolo, Castaman, Giancarlo, Pinotti, Mirko, Branchini, Alessio

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Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity von Obuca, Mina, Kubovciak, Jan, Stanek, David, Cvacková, Zuzana, Kolár, Michal

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Mutational survivorship bias: The case of PNKP von Bermudez-Guzman, Luis, Jimenez-Huezo, Gabriel, Arguedas, Andres, Leal, Alejandro

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Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates von Lunghi, Barbara, Bernardi, Francesco, Martinelli, Nicola, Frusconi, Sabrina, Branchini, Alessio, Linari, Silvia, Marchetti, Giovanna, Castaman, Giancarlo, Morfini, Massimo

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An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics von Bern, Malin C, Nilsen, Jeannette, Ferrarese, Mattia, Sand, Kine Marita Knudsen, Tollefsrud Gjølberg, Torleif, Lode, Heidrun Elisabeth, Davidson, Robert J, Camire, Rodney M, Bækkevold, Espen Sønderaal, Foss, Stian, Grevys, Algirdas, Dalhus, Bjørn, Wilson, John, Høydahl, Lene, Christianson, Gregory J, Roopenian, Derry C, Schlothauer, Tilman, Michaelsen, Terje Einar, Moe, Morten Carsten, Lombardi, Silvia, Pinotti, Mirko, Sandlie, Inger, Branchini, Alessio, Andersen, Jan Terje

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Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity von Donadon, Irving, McVey, John H, Garagiola, Isabella, Branchini, Alessio, Mortarino, Mimosa, Peyvandi, Flora, Bernardi, Francesco, Pinotti, Mirko

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The carboxyl‐terminal region of coagulation serine proteases: A matter of cut and change von Branchini, Alessio

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1,3,8-Triazaspiro[4.5]decane Derivatives Inhibit Permeability Transition Pores through a FO-ATP Synthase c Subunit Glu119-Independent Mechanism That Prevents Oligomycin A-Related S... von Pedriali, Gaia, Ramaccini, Daniela, Bouhamida, Esmaa, Branchini, Alessio, Turrin, Giulia, Tonet, Elisabetta, Scala, Antonella, Patergnani, Simone, Pinotti, Mirko, Trapella, Claudio, Giorgi, Carlotta, Tremoli, Elena, Campo, Gianluca, Morciano, Giampaolo, Pinton, Paolo

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Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts von Pignani, Silvia, Zappaterra, Federico, Barbon, Elena, Follenzi, Antonia, Bovolenta, Matteo, Bernardi, Francesco, Branchini, Alessio, Pinotti, Mirko

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