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1.
Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans.
Nature
; 541(7635): 102-106, 2017 01 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27919065
2.
DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning.
Nucleic Acids Res
; 48(13): 7099-7118, 2020 07 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-32558887
3.
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.
Nucleic Acids Res
; 45(1): 395-416, 2017 Jan 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27557711
4.
DFI-seq identification of environment-specific gene expression in uropathogenic Escherichia coli.
BMC Microbiol
; 17(1): 99, 2017 04 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-28438119
5.
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
Nucleic Acids Res
; 43(9): 4627-39, 2015 May 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-25878036
6.
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
Mol Genet Metab
; 119(3): 258-269, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27595546
7.
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Mol Ther Nucleic Acids
; 35(1): 102101, 2024 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38204914
8.
A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.
Mol Genet Metab
; 110(1-2): 122-8, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23810226
9.
Genome-wide epigenetic and mRNA-expression profiling followed by CRISPR/Cas9-mediated gene-disruptions corroborate the MIR141/MIR200C-ZEB1/ZEB2-FGFR1 axis in acquired EMT-associated EGFR TKI-resistance in NSCLC cells.
Transl Lung Cancer Res
; 12(1): 42-65, 2023 Jan 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-36762066
10.
VEGFA-targeting miR-agshRNAs combine efficacy with specificity and safety for retinal gene therapy.
Mol Ther Nucleic Acids
; 28: 58-76, 2022 Jun 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35356684
11.
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.
Hum Mutat
; 32(2): 220-30, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21120954
12.
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.
Hum Mutat
; 31(4): 437-44, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20120036
13.
Tissue-resident macrophages in omentum promote metastatic spread of ovarian cancer.
J Exp Med
; 217(4)2020 04 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31951251
14.
Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.
PLoS One
; 9(6): e98841, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24892836
15.
CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay.
Sci Rep
; 2: 209, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22355723
16.
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Am J Hum Genet
; 80(3): 416-32, 2007 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-17273963
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