Lista de obras - Franco Pagani - Dominio Público Uruguay

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.

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 1992

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

Approaches to study CFTR pre-mRNA splicing defects.

artículo científico publicado en 2011

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

artículo científico publicado en 1992

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

artículo científico publicado en 2003

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

artículo científico publicado en 1988

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2000

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

artículo científico publicado en 2015

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

artículo científico publicado en 1993

Functional studies on the ATM intronic splicing processing element

artículo científico publicado en 2005

Genomic variants in exons and introns: identifying the splicing spoilers

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 1996

Intron cleavage affects processing of alternatively spliced transcripts.

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 1996

Modulating alternative splicing by cotranscriptional cleavage of nascent intronic RNA.

artículo científico publicado en 2007

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

artículo científico publicado en 1994

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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2001

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

artículo científico publicado en 2004

Promoter architecture modulates CFTR exon 9 skipping

artículo científico publicado en 2002

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

artículo científico publicado en 2004

RNA‐based therapeutic approaches for coagulation factor deficiencies ⬇️

artículo científico publicado el 1 de noviembre de 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2000

Stability of DNA methylation of X-chromosome genes during aging

artículo científico publicado en 1990

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

TDP43 depletion rescues aberrant CFTR exon 9 skipping

artículo científico publicado en 2006

TMEM16A alternative splicing coordination in breast cancer.

artículo científico publicado en 2013

Therapeutic activity of modified U1 core spliceosomal particles

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

Unusual splice site mutations disrupt FANCA exon 8 definition

artículo científico publicado en 2014

Lista de obras de 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.

RNA‐based therapeutic approaches for coagulation factor deficiencies ⬇️

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