检索结果 - Franco Pagani
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Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element 由 Franco Pagani, Emanuele Buratti, Cristiana Stuani, Maurizio Romano, Elisabetta Zuccato, Martina Niksic, L. Giglio, D. Faraguna, Francisco E. Baralle
出版 2000Artigo -
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Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing 由 Jane A. Byrne, Sandra Strautnieks, Gudrun Ihrke, Franco Pagani, A. S. Knisely, Kenneth J. Linton, Giorgina Mieli‐Vergani, Richard J. Thompson
出版 2008Artigo -
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Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model 由 Irving Donadon, Mirko Pinotti, Katarzyna Rajkowska, Giulia Pianigiani, Elena Barbon, Elisabetta Morini, Helena Motaln, Boris Rogelj, Federico Mingozzi, Susan A. Slaugenhaupt, Franco Pagani
出版 2018Artigo -
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A High Proportion of DNA Variants of<i>BRCA1</i>and<i>BRCA2</i>Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients 由 David J. Sanz, Alberto Acedo, Mar Infante, M. Durán, Lucía Pérez‐Cabornero, Eva Esteban‐Cardeñosa, Enrique Lastra, Franco Pagani, Cristina Miner, Eladio A. Velasco
出版 2010Artigo
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Biology
Gene
Genetics
RNA
RNA splicing
Exon
Alternative splicing
Molecular biology
Exon skipping
Exonic splicing enhancer
Cell biology
Minigene
Intron
Enhancer
Mutation
Splice site mutation
Cystic fibrosis transmembrane conductance regulator
Gene expression
Ribonucleoprotein
Spinal muscular atrophy
Chemistry
Computational biology
Gene isoform
Messenger RNA
Polypyrimidine tract
SR protein
Small nuclear RNA
Splicing factor
Biochemistry
Biophysics