Hasil Pencarian - Mirko Pinotti

Perbaiki Hasil
  1. 1
    Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches

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

    Diterbitkan 2020-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency

    Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency oleh Barbara Lunghi, Mirko Pinotti, Iva Maestri, Angelika Batorova, Francesco Bernardi

    Diterbitkan 2008-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

    An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A oleh Dario Balestra, Iva Maestri, Alessio Branchini, Mattia Ferrarese, Francesco Bernardi, Mirko Pinotti

    Diterbitkan 2019-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants

    An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants oleh Dario Balestra, Daniela Scalet, Franco Pagani, Malgorzata Ewa Rogalska, Rosella Mari, Francesco Bernardi, Mirko Pinotti

    Diterbitkan 2016-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.

    Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function. oleh Mojca Tajnik, Malgorzata Ewa Rogalska, Erica Bussani, Elena Barbon, Dario Balestra, Mirko Pinotti, Franco Pagani

    Diterbitkan 2016-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Counteracting the Common Shwachman–Diamond Syndrome-Causing <i>SBDS</i> c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

    Counteracting the Common Shwachman–Diamond Syndrome-Causing <i>SBDS</i> c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing oleh Laura Peretto, Elena Tonetto, Iva Maestri, Valentino Bezzerri, Roberto Valli, Marco Cipolli, Mirko Pinotti, Dario Balestra

    Diterbitkan 2023-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy

    Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy oleh Dario Balestra, Domenico Giorgio, Matteo Bizzotto, Maria Fazzari, Bruria Ben Zeev, Mirko Pinotti, Nicoletta Landsberger, Angelisa Frasca

    Diterbitkan 2019-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity

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

    Diterbitkan 2018-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII

    The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII oleh Elisabeth Andersen, Maria Eugenia Chollet, Marcello Baroni, Mirko Pinotti, Francesco Bernardi, Ellen Skarpen, Per Morten Sandset, Grethe Skretting

    Diterbitkan 2019-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics

    Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics oleh Elena Barbon, Mattia Ferrarese, Laetitia van Wittenberghe, Peggy Sanatine, Giuseppe Ronzitti, Fanny Collaud, Pasqualina Colella, Mirko Pinotti, Federico Mingozzi

    Diterbitkan 2016-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    Translational readthrough at <i>F8</i> nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association

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

    Diterbitkan 2022-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

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

    Diterbitkan 2020-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency

    Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency oleh Alessio Branchini, Lara Rizzotto, Guglielmo Mariani, Mariasanta Napolitano, Mario Lapecorella, Muriel Giansily-Blaizot, Rosella Mari, Alessandro Canella, Mirko Pinotti, Francesco Bernardi

    Diterbitkan 2012-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective <i>spf</i>/<i>ash</i> Mouse Model of Ornithine Transcarbamylase Deficiency

    An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective <i>spf</i>/<i>ash</i> Mouse Model of Ornithine Transcarbamylase Deficiency oleh Dario Balestra, Mattia Ferrarese, Silvia Lombardi, Nicole Ziliotto, Alessio Branchini, Naomi Petersen, Piter Bosma, Mirko Pinotti, Stan F. J. van de Graaf

    Diterbitkan 2020-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    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

    Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Pro... oleh Barbara Lunghi, Nicole Ziliotto, Dario Balestra, Lucrezia Rossi, Patrizia Della Valle, Pasquale Pignatelli, Mirko Pinotti, Armando D’Angelo, Giovanna Marchetti, Francesco Bernardi

    Diterbitkan 2023-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    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

    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 oleh Claudia Sacchetto, Laura Peretto, Francisco Baralle, Iva Maestri, Francesca Tassi, Francesco Bernardi, Stan F. J. van de Graaf, Franco Pagani, Mirko Pinotti, Dario Balestra

    Diterbitkan 2021-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    Chronic sleep deprivation markedly reduces coagulation factor VII expression

    Chronic sleep deprivation markedly reduces coagulation factor VII expression oleh Mirko Pinotti, Cristiano Bertolucci, Elena Frigato, Alessio Branchini, Nicola Cavallari, Kenkichi Baba, Susana Contreras-Alcantara, J. Christopher Ehlen, Francesco Bernardi, Ketema N. Paul, Gianluca Tosini

    Diterbitkan 2010-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  18. 18
    A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I

    A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I oleh Dario Balestra, Daniela Scalet, Mattia Ferrarese, Silvia Lombardi, Nicole Ziliotto, Chrystal C. Croes, Naomi Petersen, Piter Bosma, Federico Riccardi, Franco Pagani, Mirko Pinotti, Stan F. J. van de Graaf

    Diterbitkan 2020-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  19. 19
    Deciphering the Ets-1/2-mediated transcriptional regulation of F8 gene identifies a minimal F8 promoter for hemophilia A gene therapy

    Deciphering the Ets-1/2-mediated transcriptional regulation of F8 gene identifies a minimal F8 promoter for hemophilia A gene therapy oleh Rosella Famà, Ester Borroni, Simone Merlin, Chiara Airoldi, Silvia Pignani, Alessia Cucci, Davide Corà, Valentina Bruscaggin, Sharon Scardellato, Stefania Faletti, Giuliana Pelicci, Mirko Pinotti, Gillian E. Walker, Antonia Follenzi

    Diterbitkan 2020-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  20. 20
    1,3,8-Triazaspiro[4.5]decane Derivatives Inhibit Permeability Transition Pores through a F<sub>O</sub>-ATP Synthase c Subunit Glu<sup>119</sup>-Independent Mechanism That Prevents Oligomycin A-Related Side Effects

    1,3,8-Triazaspiro[4.5]decane Derivatives Inhibit Permeability Transition Pores through a F<sub>O</sub>-ATP Synthase c Subunit Glu<sup>119</sup>-Independent Mechanism That Prevents... oleh Gaia Pedriali, Daniela Ramaccini, Esmaa Bouhamida, Alessio Branchini, Giulia Turrin, Elisabetta Tonet, Antonella Scala, Simone Patergnani, Mirko Pinotti, Claudio Trapella, Carlotta Giorgi, Elena Tremoli, Gianluca Campo, Giampaolo Morciano, Paolo Pinton

    Diterbitkan 2023-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: