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In vitro and ex vivo rescue of a nonsense mutation responsible for severe coagulation factor V deficiency
Todaro, Alice M; Radu, Claudia M; Ciccone, Maria; Toffanin, Serena; Serino, M Luisa; Campello, Elena; Bulato, Cristiana; Lunghi, Barbara; Gemmati, Donato; Cuneo, Antonio; Hackeng, Tilman M; Simioni, Paolo; Bernardi, Francesco; Castoldi, Elisabetta     dettagli >>
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
Vol. 22, No. 2, pp: 410-422, Anno: 2024

Venetoclax is a potent hepsin inhibitor that reduces the metastatic and prothrombotic phenotypes of hepsin-expressing colorectal cancer cells
Rodenas, Maria Carmen; Peñas-Martínez, Julia; Pardo-Sánchez, Irene; Zaragoza-Huesca, David; Ortega-Sabater, Carmen; Peña-García, Jorge; Espín, Salvador; Ricote, Guillermo; Montenegro, Sofía; Ayala-De La Peña, Francisco; Luengo-Gil, Ginés; Nieto, Andrés; García-Molina, Francisco; Vicente, Vicente; Bernardi, Francesco; Lozano, María Luisa; Mulero, Victoriano; Pérez-Sánchez, Horacio; Carmona-Bayonas, Alberto; Martínez-Martínez, Irene     dettagli >>
FRONTIERS IN MOLECULAR BIOSCIENCES
Vol. 10, No. 1, pp: 1182925----, Anno: 2023

Modulation of factor VIII pharmacokinetics by genetic components in factor VIII receptors
Lunghi, Barbara; Morfini, Massimo; Martinelli, Nicola; Branchini, Alessio; Linari, Silvia; Castaman, Giancarlo; Bernardi, Francesco     dettagli >>
HAEMOPHILIA
Vol. 29, No. 2, pp: 479-487, Anno: 2023

Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association
Testa, Maria Francesca; Lombardi, Silvia; Bernardi, Francesco; Ferrarese, Mattia; Belvini, Donata; Radossi, Paolo; Castaman, Giancarlo; Pinotti, Mirko; Branchini, Alessio     dettagli >>
HAEMATOLOGICA
Vol. 108, No. 2, pp: 472-482, Anno: 2023

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction
Lunghi, Barbara; Ziliotto, Nicole; Balestra, Dario; Rossi, Lucrezia; Della Valle, Patrizia; Pignatelli, Pasquale; Pinotti, Mirko; D'Angelo, Armando; Marchetti, Giovanna; Bernardi, Francesco     dettagli >>
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Vol. 24, No. 18, pp: 13809-1-13809-16, Anno: 2023

Combination of CLEC4M rs868875 G-Carriership and ABO O Genotypes May Predict Faster Decay of FVIII Infused in Hemophilia A Patients
Lunghi, B.; Morfini, M.; Martinelli, N.; Linari, S.; Castaman, G.; Bernardi, F.     dettagli >>
JOURNAL OF CLINICAL MEDICINE
Vol. 11, No. 3, pp: 733-1-733-9, Anno: 2022

Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis
Scapoli, Chiara; Ziliotto, Nicole; Lunghi, Barbara; Menegatti, Erica; Salvi, Fabrizio; Zamboni, Paolo; Baroni, Marcello; Mascoli, Francesco; Bernardi, Francesco; Marchetti, Giovanna     dettagli >>
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Vol. 23, No. 1, pp: 310-1-310-18, Anno: 2022

The Asialoglycoprotein Receptor Minor Subunit Gene Contributes to Pharmacokinetics of Factor VIII Concentrates in Hemophilia A
Lunghi, B.; Morfini, M.; Martinelli, N.; Balestra, D.; Linari, S.; Frusconi, S.; Branchini, A.; Cervellera, C. F.; Marchetti, G.; Castaman, G.; Bernardi, F.     dettagli >>
THROMBOSIS AND HAEMOSTASIS
Vol. 122, No. 5, pp: 715-725, Anno: 2022

F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes
Branchini, Alessio; Morfini, Massimo; Lunghi, Barbara; Belvini, Donata; Radossi, Paolo; Bury, Loredana; Serino, Maria Luisa; Giordano, Paola; Cultrera, Dorina; Molinari, Angelo Claudio; Napolitano, Mariasanta; Bigagli, Elisabetta; Castaman, Giancarlo; Pinotti, Mirko; Bernardi, Francesco; Agostini, Paola; Biasioli, Chiara; Caimi, Teresa Maria; Daniele, Filomena; Dragani, Alfredo; Gemmati, Donato; Gresele, Paolo; Linari, Silvia; Rossetti, Gina; Santoro, Cristina; Santoro, Rita; Sottilotta, Gianluca; Svahn, Johanna     dettagli >>
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
Vol. 20, No. 1, pp: 69-81, Anno: 2022

The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms
Sacco, Monica; Lancellotti, Stefano; Branchini, Alessio; Tardugno, Maira; Testa, Maria Francesca; Lunghi, Barbara; Bernardi, Francesco; Pinotti, Mirko; Giusti, Betti; Castaman, Giancarlo; De Cristofaro, Raimondo     dettagli >>
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
Vol. 20, No. 8, pp: 1818-1829, Anno: 2022

Biochemical, molecular and clinical aspects of coagulation factor VII and its role in hemostasis and thrombosis
Bernardi, F.; Mariani, G.     dettagli >>
HAEMATOLOGICA
Vol. 106, No. 2, pp: 351-362, Anno: 2021

In vivo modulation of a dominant-negative variant in mouse models of von Willebrand disease type 2A
Campioni, Matteo; Legendre, Paulette; Loubiere, Cécile; Lunghi, Barbara; Pinotti, Mirko; Christophe, Olivier D.; Lenting, Peter J.; Denis, Cécile V.; Bernardi, Francesco; Casari, Caterina     dettagli >>
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
Vol. 19, No. 1, pp: 139-146, Anno: 2021

The Factor VII Variant p.A354V-p.P464Hfs: Clinical versus Intracellular and Biochemical Phenotypes Induced by Chemical Chaperones
Andersen, Elisabeth; Chollet, Maria Eugenia; Bernardi, Francesco; Branchini, Alessio; Baroni, Marcello; Mariani, Guglielmo; Dolce, Alberto; Batorova, Angelika; Skarpen, Ellen; Myklebust, Christiane Filion; Skretting, Grethe; Sandset, Per Morten     dettagli >>
APPLIED SCIENCES
Vol. 11, No. 13, pp: 5762-1-5762-16, Anno: 2021

Hemostasis components in cerebral amyloid angiopathy and Alzheimer’s disease
Ziliotto, N.; Bernardi, F.; Piazza, F.     dettagli >>
NEUROLOGICAL SCIENCES
Vol. 42, No. 8, pp: 3177-3188, Anno: 2021

Baseline and overtime variations of soluble adhesion molecule plasma concentrations are associated with mobility recovery after rehabilitation in multiple sclerosis patients
Ziliotto, N.; Lamberti, N.; Manfredini, F.; Straudi, S.; Tisato, V.; Carantoni, M.; Melloni, E.; Secchiero, P.; Basaglia, N.; Bernardi, F.; Marchetti, G.     dettagli >>
JOURNAL OF NEUROIMMUNOLOGY
Vol. 352, No. 1, pp: 577473-1-577473-8, Anno: 2021

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies
Sacchetto, Claudia; Peretto, Laura; Baralle, Francisco; Maestri, Iva; Tassi, Francesca; Bernardi, Francesco; van de Graaf, Stan F. J.; Pagani, Franco; Pinotti, Mirko; Balestra, Dario     dettagli >>
MOLECULAR MEDICINE
Vol. 27, No. 1, pp: 157-1-157-12, Anno: 2021

Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity
Lombardi, Silvia; Aaen, Kristin H; Nilsen, Jeannette; Ferrarese, Mattia; Gjølberg, Torleif T; Bernardi, Francesco; Pinotti, Mirko; Andersen, Jan T; Branchini, Alessio     dettagli >>
BRITISH JOURNAL OF HAEMATOLOGY
Vol. 194, No. 2, pp: 453-462, Anno: 2021

Basophil Blood Cell Count Is Associated With Enhanced Factor II Plasma Coagulant Activity and Increased Risk of Mortality in Patients With Stable Coronary Artery Disease: Not Only Neutrophils as Prognostic Marker in Ischemic Heart Disease
Pizzolo, Francesca; Castagna, Annalisa; Olivieri, Oliviero; Girelli, Domenico; Friso, Simonetta; Stefanoni, Filippo; Udali, Silvia; Munerotto, Veronica; Baroni, Marcello; Cetera, Vera; Luciani, Giovanni Battista; Faggian, Giuseppe; Bernardi, Francesco; Martinelli, Nicola     dettagli >>
JOURNAL OF THE AMERICAN HEART ASSOCIATION. CARDIOVASCULAR AND CEREBROVASCULAR DISEASE
Vol. 10, No. 5, pp: e018243-1-e018243-14, Anno: 2021

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function
Lombardi, S.; Leo, G.; Merlin, S.; Follenzi, A.; Mcvey, J. H.; Maestri, I.; Bernardi, F.; Pinotti, M.; Balestra, D.     dettagli >>
AMERICAN JOURNAL OF HUMAN GENETICS
Vol. 108, No. 8, pp: 1512-1525, Anno: 2021

Expression profiles of the internal jugular and saphenous veins: Focus on hemostasis genes
Ziliotto, N.; Meneghetti, S.; Menegatti, E.; Baroni, M.; Lunghi, B.; Salvi, F.; Ferracin, M.; Branchini, A.; Gemmati, D.; Mascoli, F.; Zamboni, P.; Bernardi, F.; Marchetti, G.     dettagli >>
THROMBOSIS RESEARCH
Vol. 191, No. 1, pp: 113-124, Anno: 2020

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