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Disease-causing variants of the conserved +2T of 5′ splice sites can be rescued by engineered U1snRNAs
Scalet, Daniela; Maestri, Iva; Branchini, Alessio; Bernardi, Francesco; Pinotti, Mirko; Balestra, Dario     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
HUMAN MUTATION
Vol. 40, No. 1, pp: 48-52, Anno: 2019

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies
Ferrarese, Mattia; Pignani, Silvia; Lombardi, Silvia; Balestra, Dario; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
THROMBOSIS RESEARCH
Vol. 173, No. 1, pp: 4-11, Anno: 2019

Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA
Donadon, Irving; Bussani, Erica; Riccardi, Federico; Licastro, Danilo; Romano, Giulia; Pianigiani, Giulia; Pinotti, Mirko; Kostantinova, Pavlina; Evers, Melvin; Lin, Shuo; Rüegg, Markus A; Pagani, Franco     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
NUCLEIC ACIDS RESEARCH
Vol. ....., No. 1, pp: ??-., Anno: 2019

Favourable recombinant factor IX pharmacokinetics outcomes in severe hemophilia B patients with FIX activation site mutations
Branchini, A.; Morfini, M.; Zordan, T.; Bonsi, M.; Pinotti, M.; Serino, M. L.; Radossi, P.; Belvini, D.; Castaman, G.; Bernardi, F.     dettagli >>

Atto di Convegno (Proceedings)
Wiley, Abstracts of the XXVII Congress of the International Society on Thrombosis and Haemostasis, July 6-10, 2019
Vol. 3, No. S1, pp: 250-250, Anno: 2019

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency
Ferraresi, Paolo; Balestra, Dario; Guittard, Caroline; Buthiau, Delphine; Pan-Petesh, Brigitte; Maestri, Iva; Farah, Roula; Pinotti, Mirko; Giansily-Blaizot, Muriel     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
HAEMATOLOGICA
Vol. Epub ahead of print, No. 1, pp: 00-00, Anno: 2019

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

Contributo in rivista (Pubblicazione in Rivista)
BIOCHIMICA ET BIOPHYSICA ACTA. GENE REGULATORY MECHANISMS
Vol. 1862, No. 6, pp: 619-624, Anno: 2019

Next generation factor VIIa with enhanced half-life
Ferrarese, M.; Nilsen, J.; Pinotti, M.; Bern, M.; Davidson, R. J.; Camire, R. M.; Lode, H. E.; Roopenian, D. C.; Sandlie, I.; Lombardi, S.; Castaman, G.; Andersen, J. T.; Branchini, A.     dettagli >>

Atto di Convegno (Proceedings)
Wiley, Abstracts of the XXVII Congress of the International Society on Thrombosis and Haemostasis, July 6-10, 2019
Vol. 3, No. S1, pp: 312-313, Anno: 2019

CRISPR activation on coagulation F7 or F8 promoters potentiate trascriptional activity in the normal and mutated gene context
Pignani, Silvia; Zappaterra, Federico; Barbon, Elena; Bovolenta, Matteo; Bernardi, Francesco; Branchini, Alessio; Pinotti, Mirko     dettagli >>

Atto di Convegno (Proceedings)
Wiley, RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
Vol. 3, No. S1, pp: 105-106, Anno: 2019

Exploring spontaneous readthrough over recurrent F8 nonsense mutations: potential correlation with inhibitor risk?
Lombardi, Silvia; Testa, Maria Francesca; Pinotti, Mirko; Castman, Giancarlo; Radossi, Paolo; Bernardi, Francesco; Branchini, Alessio     dettagli >>

Atto di Convegno (Proceedings)
Wiley, RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
Vol. 3, No. S1, pp: 110-111, Anno: 2019

Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition
Ferrarese, Mattia; Baroni, Marcello; Della Valle, Patrizia; Spiga, Ivana; Poloniato, Antonella; D'Angelo, Armando; Pinotti, Mirko; Bernardi, Francesco; Branchini, Alessio     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
HAEMOPHILIA
Vol. 25, No. 4, pp: 685-692, Anno: 2019

Rescue of missense and splicing mutations in Haemophilia A by a unique Exon Specific U1snRNA
Balestra, Dario; Scalet, Daniela; Leo, Gabriele; Donadon, I.; Lombardi, Silvia; Bernardi, Francesco; Pinotti, M.     dettagli >>

Atto di Convegno (Proceedings)
Edizioni SIMTI, Blood transfusion
Vol. 16, No. 4, pp: 454-454, Anno: 2018

Role of clinical and laboratory parameters for treatment choice in patients with inherited FVII deficiency undergoing surgical procedures: evidence from the STER registry
Di Minno, Matteo N. D.; Napolitano, Mariasanta; Dolce, Alberto; Mariani, Guglielmo; Auerswald, Guenter; Batorova, Angelica; Bernardi, Francesco; Di Minno, Giovanni; Giansilly-Balizot, Muriel; Ingerslev, Jorgen; Martinowitz, Uri; Morfini, Massimo; Pinotti, Mirko; Shapiro, Amy; Siragusa, Sergio; Schved, Jean Francois; Sørensen, Benny     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
BRITISH JOURNAL OF HAEMATOLOGY
Vol. 180, No. 4, pp: 563-570, Anno: 2018

Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency
Andersen, Elisabeth; Chollet, Maria Eugenia; Myklebust, Christiane Filion; Pinotti, Mirko; Bernardi, Francesco; Chuansumrit, Ampaiwan; Skarpen, Ellen; Sandset, Per Morten; Skretting, Grethe     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
THROMBOSIS AND HAEMOSTASIS
Vol. 118, No. 4, pp: 664-675, Anno: 2018

Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain
Chollet, Maria Eugenia; Andersen, Elisabeth; Skarpen, Ellen; Myklebust, Christiane F.; Koehler, Christian; Morth, Jens Preben; Chuansumrit, Ampaiwan; Pinotti, Mirko; Bernardi, Francesco; Thiede, Bernd; Sandset, Per Morten; Skretting, Grethe     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE
Vol. 1864, No. 3, pp: 660-667, Anno: 2018

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B
Ferrarese, Mattia; Testa, Maria Francesca; Balestra, Dario; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
HUMAN MUTATION
Vol. 39, No. 5, pp: 702-708, Anno: 2018

Recombinant Expression of F9 Nonsense Mutations and Fix Pharmacokinetics in Hemophilia B
Branchini, Alessio; Ferrarese, Mattia; Pinotti, Mirko; Bernardi, Francesco; Morfini, Massimo    

Atto di Convegno (Proceedings)
Wiley, Abstracts of the 64th Annual Meeting of the Scientific Standardization Committee of the International Society on Thrombosis and Haemostasis
Vol. 2, No. S1, pp: 66-66, Anno: 2018

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation
Pignani, S; Todaro, A; Ferrarese, M; Marchi, S; Lombardi, S; Balestra, D; Pinton, P; Bernardi, F; Pinotti, M; Branchini, A     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
Vol. 16, No. 10, pp: 2035-2043, Anno: 2018

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction
Scalet, Daniela; Sacchetto, Claudia; Bernardi, Francesco; Pinotti, Mirko; Van De Graaf, Stan F. J.; Balestra, Dario     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
JOURNAL OF HUMAN GENETICS
Vol. 63, No. 5, pp: 683-686, Anno: 2018

The carboxyl-terminal region of human coagulation factor X as a novel naturally-occuring linker for fusion strategies
Ferrarese, Mattia; Pignani, Silvia; Lombardi, Silvia; Balestra, Dario; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio     dettagli >>

Atto di Convegno (Proceedings)
Walter Ageno, Anna Falanga, Gianccarlo Castaman, BLOOD TRANSFUSION
Vol. 16, No. Supplement 4, pp: 418-418, Anno: 2018

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B
Ferrarese, Mattia; Testa, Maria Francesca; Balestra, Dario; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio     dettagli >>

Atto di Convegno (Proceedings)
Walter Ageno, Anna Falanga, Gianccarlo Castaman, BLOOD TRANSFUSION
Vol. 16, No. Supplement 4, pp: 456-456, Anno: 2018

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