Pages that link to "Q41671531"

The following pages link to Franco Pagani (Q41671531):

Displaying 49 items.

• Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping (Q24291081) (← links)
• Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. (Q24524120) (← links)
• Functional studies on the ATM intronic splicing processing element (Q24813869) (← links)
• Cross talk between spliceosome and microprocessor defines the fate of pre-mRNA (Q27013994) (← links)
• TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA (Q28276200) (← links)
• Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA. (Q34902920) (← links)
• Genomic variants in exons and introns: identifying the splicing spoilers (Q35787564) (← links)
• Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches (Q35796587) (← links)
• Quantitative methods for the analysis of CFTR transcripts/splicing variants. (Q35908357) (← links)
• Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function (Q36030221) (← links)
• Therapeutic activity of modified U1 core spliceosomal particles (Q36768787) (← links)
• TMEM16A alternative splicing coordination in breast cancer. (Q37057039) (← links)
• Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant. (Q37209107) (← links)
• RNA‐based therapeutic approaches for coagulation factor deficiencies (Q37919973) (← links)
• Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms. (Q38860450) (← links)
• Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element (Q38911508) (← links)
• Unusual splice site mutations disrupt FANCA exon 8 definition (Q39007597) (← links)
• Intron cleavage affects processing of alternatively spliced transcripts. (Q39524575) (← links)
• U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency (Q40031504) (← links)
• An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing (Q40589634) (← links)
• Modulators of oxidized LDL-induced hyperadhesiveness in human endothelial cells. (Q41434757) (← links)
• An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants. (Q41671484) (← links)
• Modulating alternative splicing by cotranscriptional cleavage of nascent intronic RNA. (Q42053969) (← links)
• An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM. (Q42141818) (← links)
• An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects (Q42156108) (← links)
• A competitive regulatory mechanism discriminates between juxtaposed splice sites and pri-miRNA structures. (Q42174178) (← links)
• An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice. (Q42224211) (← links)
• 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 (Q42930461) (← links)
• Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. (Q45986854) (← links)
• Rescue of coagulation factor VII function by the U1+5A snRNA. (Q46611914) (← links)
• Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better? (Q47449669) (← links)
• New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. (Q47947444) (← links)
• Alternative splicing of fibronectin pre-mRNA during aging (Q48406143) (← links)
• Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA. (Q51033041) (← links)
• TDP43 depletion rescues aberrant CFTR exon 9 skipping (Q51276789) (← links)
• Characterization of genetic markers in the 3' end of the apo B gene and their use in family and population studies (Q51627569) (← links)
• L273S missense substitution in human lysosomal acid lipase creates a new N-glycosylation site. (Q52522744) (← links)
• A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. (Q52599103) (← links)
• Difference in substrate specificity between human and mouse lysosomal acid lipase: low affinity for cholesteryl ester in mouse lysosomal acid lipase. (Q54103687) (← links)
• Approaches to study CFTR pre-mRNA splicing defects. (Q54372285) (← links)
• Detection of a rare CDKN2A intronic mutation in a Hungarian melanoma-prone family and its role in splicing regulation. (Q54532987) (← links)
• A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome (Q58010637) (← links)
• Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element (Q58454220) (← links)
• Expression and alternative splicing of fibronectin mRNA in human diploid endothelial cells during aging in vitro (Q61897306) (← links)
• Stability of DNA methylation of X-chromosome genes during aging (Q67654782) (← links)
• Association of a polymorphism in the Apo AI gene promoter with hyperalphalipoproteinemia (Q68019144) (← links)
• Induction of human endothelial cell growth by mildly oxidized low density lipoprotein (Q71473172) (← links)
• Promoter architecture modulates CFTR exon 9 skipping (Q78488641) (← links)
• 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 (Q84970421) (← links)