List of works - Franco Pagani

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

article published in 2009

A competitive regulatory mechanism discriminates between juxtaposed splice sites and pri-miRNA structures.

scientific article published on 17 July 2013

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

scientific article published on 9 March 2010

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

scientific article published on 01 January 2010

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.

scientific article published on 09 March 2012

Alternative splicing of fibronectin pre-mRNA during aging

scientific article published in November 1992

An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.

scientific article published on November 2009

An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.

scientific article published on 4 October 2016

An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.

scientific article published on February 2014

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

scientific article

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing

scientific article published on 13 February 2004

Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.

scientific article published on 23 February 2015

Approaches to study CFTR pre-mRNA splicing defects.

scientific article published in January 2011

Association of a polymorphism in the Apo AI gene promoter with hyperalphalipoproteinemia

scientific article published on 01 May 1992

Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?

scientific article published in June 2003

Characterization of genetic markers in the 3' end of the apo B gene and their use in family and population studies.

scientific article published in January 1988

Cross talk between spliceosome and microprocessor defines the fate of pre-mRNA

scientific article

Detection of a rare CDKN2A intronic mutation in a Hungarian melanoma-prone family and its role in splicing regulation.

scientific article published on 18 May 2012

Difference in substrate specificity between human and mouse lysosomal acid lipase: low affinity for cholesteryl ester in mouse lysosomal acid lipase.

scientific article

Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element

scientific article

Expression and alternative splicing of fibronectin mRNA in human diploid endothelial cells during aging in vitro

scientific article published in May 1993

Functional studies on the ATM intronic splicing processing element

scientific article

Genomic variants in exons and introns: identifying the splicing spoilers

scientific article published on May 2004

Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.

scientific article

Induction of human endothelial cell growth by mildly oxidized low density lipoprotein

scientific article published on 01 June 1996

Intron cleavage affects processing of alternatively spliced transcripts.

scientific article published on 14 June 2011

Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.

scientific article published on 24 June 2015

L273S missense substitution in human lysosomal acid lipase creates a new N-glycosylation site.

scientific article published in November 1996

Modulating alternative splicing by cotranscriptional cleavage of nascent intronic RNA.

scientific article published on 7 December 2007

Modulators of oxidized LDL-induced hyperadhesiveness in human endothelial cells.

scientific article published on October 1994

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

scientific article

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

scientific article published in May 2003

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

scientific article

Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance

scientific article published on June 2004

Promoter architecture modulates CFTR exon 9 skipping

scientific article published on 05 November 2002

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

scientific article published in August 2004

Rescue of coagulation factor VII function by the U1+5A snRNA.

scientific article published on 22 April 2009

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches

scientific article published on 30 June 2015

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

scientific article published in Journal of Biological Chemistry

Stability of DNA methylation of X-chromosome genes during aging

scientific article published on 01 January 1990

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

scientific article

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

scientific article

TDP43 depletion rescues aberrant CFTR exon 9 skipping

scientific article published on 26 January 2006

TMEM16A alternative splicing coordination in breast cancer.

scientific article published on 16 July 2013

Therapeutic activity of modified U1 core spliceosomal particles

scientific article published on 4 April 2016

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

scientific article published in February 2009

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

scientific article published on 21 December 2007

Unusual splice site mutations disrupt FANCA exon 8 definition

scientific article published on April 2014

List of works by Franco Pagani

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

A competitive regulatory mechanism discriminates between juxtaposed splice sites and pri-miRNA structures.

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.

Alternative splicing of fibronectin pre-mRNA during aging

An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.

An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.

An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing

Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.

Approaches to study CFTR pre-mRNA splicing defects.

Association of a polymorphism in the Apo AI gene promoter with hyperalphalipoproteinemia

Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?

Characterization of genetic markers in the 3' end of the apo B gene and their use in family and population studies.

Cross talk between spliceosome and microprocessor defines the fate of pre-mRNA

Detection of a rare CDKN2A intronic mutation in a Hungarian melanoma-prone family and its role in splicing regulation.

Difference in substrate specificity between human and mouse lysosomal acid lipase: low affinity for cholesteryl ester in mouse lysosomal acid lipase.

Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element

Expression and alternative splicing of fibronectin mRNA in human diploid endothelial cells during aging in vitro

Functional studies on the ATM intronic splicing processing element

Genomic variants in exons and introns: identifying the splicing spoilers

Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.

Induction of human endothelial cell growth by mildly oxidized low density lipoprotein

Intron cleavage affects processing of alternatively spliced transcripts.

Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.

L273S missense substitution in human lysosomal acid lipase creates a new N-glycosylation site.

Modulating alternative splicing by cotranscriptional cleavage of nascent intronic RNA.

Modulators of oxidized LDL-induced hyperadhesiveness in human endothelial cells.

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance

Promoter architecture modulates CFTR exon 9 skipping

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

Rescue of coagulation factor VII function by the U1+5A snRNA.

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

Stability of DNA methylation of X-chromosome genes during aging

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

TDP43 depletion rescues aberrant CFTR exon 9 skipping

TMEM16A alternative splicing coordination in breast cancer.

Therapeutic activity of modified U1 core spliceosomal particles

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

Unusual splice site mutations disrupt FANCA exon 8 definition