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Franco Pagani

Showing results (31-40 of 55) with videos related to

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Human Molecular Genetics|April 30, 2003
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12Franco Pagani, Cristiana Stuani, Maria Tzetis, et al.
Biochimica Et Biophysica Acta|April 8, 2014
Unusual splice site mutations disrupt FANCA exon 8 definitionChiara Mattioli, Giulia Pianigiani, Daniela De Rocco, et al.
Blood|December 25, 2007
U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiencyMirko Pinotti, Lara Rizzotto, Dario Balestra, et al.
Human Molecular Genetics|February 25, 2012
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defectsEugenio Fernandez Alanis, Mirko Pinotti, Andrea Dal Mas, et al.
The Journal of Biological Chemistry|October 13, 2009
Regulation of TMEM16A chloride channel properties by alternative splicingLoretta Ferrera, Antonella Caputo, Ifeoma Ubby, et al.
The Journal of Physiology|June 26, 2015
Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoformsPaolo Scudieri, Emanuela Caci, Arianna Venturini, et al.
Biochimica Et Biophysica Acta|March 20, 2012
Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variantNicola Cavallari, Dario Balestra, Alessio Branchini, et al.
Heart Rhythm|February 4, 2009
A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndromeLia Crotti, Marzena A Lewandowska, Peter J Schwartz, et al.
Hepatology (Baltimore, Md.)|November 26, 2014
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNAWendy L van der Woerd, Johanna Mulder, Franco Pagani, et al.
American Journal of Human Genetics|July 29, 2022
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNAGiulia Romano, Federico Riccardi, Erica Bussani, et al.
Pageof 6

Showing results (31-40 of 55) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|April 30, 2003
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12Franco Pagani, Cristiana Stuani, Maria Tzetis, et al.
Biochimica Et Biophysica Acta|April 8, 2014
Unusual splice site mutations disrupt FANCA exon 8 definitionChiara Mattioli, Giulia Pianigiani, Daniela De Rocco, et al.
Blood|December 25, 2007
U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiencyMirko Pinotti, Lara Rizzotto, Dario Balestra, et al.
Human Molecular Genetics|February 25, 2012
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defectsEugenio Fernandez Alanis, Mirko Pinotti, Andrea Dal Mas, et al.
The Journal of Biological Chemistry|October 13, 2009
Regulation of TMEM16A chloride channel properties by alternative splicingLoretta Ferrera, Antonella Caputo, Ifeoma Ubby, et al.
The Journal of Physiology|June 26, 2015
Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoformsPaolo Scudieri, Emanuela Caci, Arianna Venturini, et al.
Biochimica Et Biophysica Acta|March 20, 2012
Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variantNicola Cavallari, Dario Balestra, Alessio Branchini, et al.
Heart Rhythm|February 4, 2009
A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndromeLia Crotti, Marzena A Lewandowska, Peter J Schwartz, et al.
Hepatology (Baltimore, Md.)|November 26, 2014
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNAWendy L van der Woerd, Johanna Mulder, Franco Pagani, et al.
American Journal of Human Genetics|July 29, 2022
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNAGiulia Romano, Federico Riccardi, Erica Bussani, et al.
Pageof 6