about
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingSynonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.Functional studies on the ATM intronic splicing processing elementCross talk between spliceosome and microprocessor defines the fate of pre-mRNATCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNAImprovement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.Genomic variants in exons and introns: identifying the splicing spoilers.Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches.Quantitative methods for the analysis of CFTR transcripts/splicing variants.Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein FunctionTherapeutic activity of modified U1 core spliceosomal particlesTMEM16A alternative splicing coordination in breast cancer.Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.Unusual splice site mutations disrupt FANCA exon 8 definition.Intron cleavage affects processing of alternatively spliced transcripts.U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency.An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing.Modulators of oxidized LDL-induced hyperadhesiveness in human endothelial cells.An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.Modulating alternative splicing by cotranscriptional cleavage of nascent intronic RNA.An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.A competitive regulatory mechanism discriminates between juxtaposed splice sites and pri-miRNA structures.An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.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.Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.Rescue of coagulation factor VII function by the U1+5A snRNA.Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.Alternative splicing of fibronectin pre-mRNA during aging.Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.TDP43 depletion rescues aberrant CFTR exon 9 skipping.Characterization of genetic markers in the 3' end of the apo B gene and their use in family and population studies.L273S missense substitution in human lysosomal acid lipase creates a new N-glycosylation site.A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.Difference in substrate specificity between human and mouse lysosomal acid lipase: low affinity for cholesteryl ester in mouse lysosomal acid lipase.Approaches to study CFTR pre-mRNA splicing defects.Detection of a rare CDKN2A intronic mutation in a Hungarian melanoma-prone family and its role in splicing regulation.
P50
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P50
description
hulumtues
@sq
researcher
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wetenschapper
@nl
հետազոտող
@hy
name
Franco Pagani
@ast
Franco Pagani
@en
Franco Pagani
@es
Franco Pagani
@nl
Franco Pagani
@sl
type
label
Franco Pagani
@ast
Franco Pagani
@en
Franco Pagani
@es
Franco Pagani
@nl
Franco Pagani
@sl
prefLabel
Franco Pagani
@ast
Franco Pagani
@en
Franco Pagani
@es
Franco Pagani
@nl
Franco Pagani
@sl
P106
P1153
7102879901
P21
P31
P496
0000-0002-2678-3459