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Franco Pagani

Showing results (41-50 of 55) with videos related to

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Hepatology (Baltimore, Md.)|December 23, 2008
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicingJane A Byrne, Sandra S Strautnieks, Gudrun Ihrke, et al.
Nucleic Acids Research|July 16, 2010
CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3Gwendal Dujardin, Emanuele Buratti, Nicolas Charlet-Berguerand, et al.
Human Molecular Genetics|April 28, 2018
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse modelIrving Donadon, Mirko Pinotti, Katarzyna Rajkowska, et al.
Human Mutation|December 3, 2009
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophyMyriam Vezain, Pascale Saugier-Veber, Elisa Goina, et al.
Molecular Medicine (Cambridge, Mass.)|December 15, 2021
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf<sup>ash</sup> mice, and govern susceptibility to RNA-based therapiesClaudia Sacchetto, Laura Peretto, Francisco Baralle, et al.
Human Mutation|August 10, 2004
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNALucia Susani, Alessandra Pangrazio, Cristina Sobacchi, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|March 11, 2010
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patientsDavid J Sanz, Alberto Acedo, Mar Infante, et al.
The Journal of Clinical Investigation|December 12, 2024
A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activationKristine Bousset, Stefano Donega, Najim Ameziane, et al.
Scientific Reports|July 1, 2015
Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approachesMonica Nizzardo, Chiara Simone, Sara Dametti, et al.
Nucleic Acids Research|May 26, 2019
Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNAIrving Donadon, Erica Bussani, Federico Riccardi, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
Hepatology (Baltimore, Md.)|December 23, 2008
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicingJane A Byrne, Sandra S Strautnieks, Gudrun Ihrke, et al.
Nucleic Acids Research|July 16, 2010
CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3Gwendal Dujardin, Emanuele Buratti, Nicolas Charlet-Berguerand, et al.
Human Molecular Genetics|April 28, 2018
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse modelIrving Donadon, Mirko Pinotti, Katarzyna Rajkowska, et al.
Human Mutation|December 3, 2009
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophyMyriam Vezain, Pascale Saugier-Veber, Elisa Goina, et al.
Molecular Medicine (Cambridge, Mass.)|December 15, 2021
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf<sup>ash</sup> mice, and govern susceptibility to RNA-based therapiesClaudia Sacchetto, Laura Peretto, Francisco Baralle, et al.
Human Mutation|August 10, 2004
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNALucia Susani, Alessandra Pangrazio, Cristina Sobacchi, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|March 11, 2010
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patientsDavid J Sanz, Alberto Acedo, Mar Infante, et al.
The Journal of Clinical Investigation|December 12, 2024
A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activationKristine Bousset, Stefano Donega, Najim Ameziane, et al.
Scientific Reports|July 1, 2015
Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approachesMonica Nizzardo, Chiara Simone, Sara Dametti, et al.
Nucleic Acids Research|May 26, 2019
Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNAIrving Donadon, Erica Bussani, Federico Riccardi, et al.
Pageof 6