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Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 680, doi. 10.1007/s00439-005-0070-4
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- Publication type:
- Article
LISTENING TO SILENCE AND UNDERSTANDING NONSENSE: EXONIC MUTATIONS THAT AFFECT SPLICING.
- Published in:
- Nature Reviews Genetics, 2002, v. 3, n. 4, p. 285, doi. 10.1038/nrg775
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- Publication type:
- Article
A novel histone exchange factor, protein phosphatase 2Cγ mediates the exchange and dephosphorylation of H2A-H2B.
- Published in:
- Journal of Cell Biology, 2006, v. 175, n. 3, p. 389, doi. 10.1083/jcb.200608001
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- Publication type:
- Article
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
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- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2490, doi. 10.1093/hmg/ddl171
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- Publication type:
- Article
Purification and characterization of human RNPS1: a general activator of pre-mRNA splicing.
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- EMBO Journal, 1999, v. 18, n. 16, p. 4560, doi. 10.1093/emboj/18.16.4560
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- Publication type:
- Article
hnRNP A/B proteins are required for inhibition of HIV-1 pre-mRNA splicing.
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- EMBO Journal, 1999, v. 18, n. 14, p. 4060, doi. 10.1093/emboj/18.14.4060
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- Publication type:
- Article
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model.
- Published in:
- Nature, 2011, v. 478, n. 7367, p. 123, doi. 10.1038/nature10485
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- Publication type:
- Article
Splicing factor SRSF6 promotes hyperplasia of sensitized skin.
- Published in:
- Nature Structural & Molecular Biology, 2014, v. 21, n. 2, p. 189, doi. 10.1038/nsmb.2756
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- Publication type:
- Article
The splicing factor SRSF1 regulates apoptosis and proliferation to promote mammary epithelial cell transformation.
- Published in:
- Nature Structural & Molecular Biology, 2012, v. 19, n. 2, p. 220, doi. 10.1038/nsmb.2207
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- Publication type:
- Article
SF2/ASF autoregulation involves multiple layers of post-transcriptional and translational control.
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- Nature Structural & Molecular Biology, 2010, v. 17, n. 3, p. 306, doi. 10.1038/nsmb.1750
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- Publication type:
- Article
Recognition of atypical 5′ splice sites by shifted base-pairing to U1 snRNA.
- Published in:
- Nature Structural & Molecular Biology, 2009, v. 16, n. 2, p. 176, doi. 10.1038/nsmb.1546
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- Publication type:
- Article
Alternative splicing regulation by interaction of phosphatase PP2Cγ with nucleic acid–binding protein YB-1.
- Published in:
- Nature Structural & Molecular Biology, 2007, v. 14, n. 7, p. 630, doi. 10.1038/nsmb1257
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- Publication type:
- Article
The gene encoding the splicing factor SF2/ASF is a proto-oncogene.
- Published in:
- Nature Structural & Molecular Biology, 2007, v. 14, n. 3, p. 185, doi. 10.1038/nsmb1209
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- Publication type:
- Article
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.
- Published in:
- Nature Structural & Molecular Biology, 2005, v. 12, n. 1, p. 54, doi. 10.1038/nsmb873
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- Publication type:
- Article
Antisense oligonucleotide-directed inhibition of nonsense-mediated mRNA decay.
- Published in:
- Nature Biotechnology, 2016, v. 34, n. 2, p. 164, doi. 10.1038/nbt.3427
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- Publication type:
- Article
A splicing component adapted to gene silencing.
- Published in:
- Nature Biotechnology, 2009, v. 27, n. 3, p. 250, doi. 10.1038/nbt0309-250
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- Publication type:
- Article
Identification of Synaptic Targets of Drosophila Pumilio.
- Published in:
- PLoS Computational Biology, 2008, v. 4, n. 2, p. 1, doi. 10.1371/journal.pcbi.1000026
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- Publication type:
- Article
PSI-Sigma: a comprehensive splicing-detection method for short-read and long-read RNA-seq analysis.
- Published in:
- Bioinformatics, 2019, v. 35, n. 23, p. 5048, doi. 10.1093/bioinformatics/btz438
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- Publication type:
- Article
Author Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24705-5
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- Publication type:
- Article
Pathological impact of SMN 2 mis-splicing in adult SMA mice.
- Published in:
- EMBO Molecular Medicine, 2013, v. 5, n. 10, p. 1586, doi. 10.1002/emmm.201302567
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- Publication type:
- Article
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.
- Published in:
- Nature Genetics, 2002, v. 30, n. 4, p. 377, doi. 10.1038/ng854
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- Publication type:
- Article
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
- Published in:
- Nature Genetics, 2001, v. 27, n. 1, p. 55, doi. 10.1038/83762
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- Publication type:
- Article
Spatio-Temporal Expression of the Trans-Acting Splicing Factors SF2/ASF and Heterogeneous Ribonuclear Proteins A1/A1<sup>B</sup> in the Myometrium of the Pregnant Human Uterus: A Molecular Mechanism for Regulating Regional Protein Isoform Expression in Vivo.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 5, p. 1928, doi. 10.1210/jcem.85.5.6537
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- Publication type:
- Article
Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon.
- Published in:
- PLoS Biology, 2007, v. 5, n. 4, p. 0729, doi. 10.1371/journal.pbio.0050073
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- Publication type:
- Article
Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30668-y
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- Publication type:
- Article
Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy.
- Published in:
- Science Translational Medicine, 2011, v. 3, n. 72, p. 1, doi. 10.1126/scitranslmed.3001777
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- Publication type:
- Article
A generalizable pre-clinical research approach for orphan disease therapy.
- Published in:
- 2012
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- Publication type:
- journal article
A generalizable pre-clinical research approach for orphan disease therapy.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 39, doi. 10.1186/1750-1172-7-39
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- Publication type:
- Article
Decrease in hnRNP A/B expression during erythropoiesis mediates a pre-mRNA splicing switch.
- Published in:
- EMBO Journal, 2002, v. 21, n. 22, p. 6195, doi. 10.1093/emboj/cdf625
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- Publication type:
- Article
The adenovirus E4-ORF4 splicing enhancer protein interacts with a subset of phosphorylated SR proteins.
- Published in:
- EMBO Journal, 2001, v. 20, n. 4, p. 864, doi. 10.1093/emboj/20.4.864
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- Publication type:
- Article
Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 2, p. 731, doi. 10.1093/nar/gkab1280
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- Publication type:
- Article
Comparison of the efficacy of MOE and PMO modifications of systemic antisense oligonucleotides in a severe SMA mouse model.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 6, p. 2853, doi. 10.1093/nar/gkaa126
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- Publication type:
- Article
Hybridization-mediated off-target effects of splice-switching antisense oligonucleotides.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 2, p. 802, doi. 10.1093/nar/gkz1132
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- Publication type:
- Article
Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 10, p. 4833, doi. 10.1093/nar/gky249
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- Publication type:
- Article
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 1, p. 395, doi. 10.1093/nar/gkw731
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- Publication type:
- Article
HIV-1 transcription is regulated by splicing factor SRSF1.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 22, p. 13812, doi. 10.1093/nar/gku1170
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- Publication type:
- Article
OLego: fast and sensitive mapping of spliced mRNA-Seq reads using small seeds.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 10, p. 5149, doi. 10.1093/nar/gkt216
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- Publication type:
- Article
Specificity, synergy, and mechanisms of splice-modifying drugs.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46090-5
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- Publication type:
- Article
The spliceosome, a potential Achilles heel of MYC-driven tumors.
- Published in:
- Genome Medicine, 2015, v. 7, p. 1, doi. 10.1186/s13073-015-0234-3
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- Publication type:
- Article
Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB.
- Published in:
- BMC Molecular Biology, 2007, v. 8, p. 1, doi. 10.1186/1471-2199-8-3
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- Publication type:
- Article
Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 118, doi. 10.1002/humu.20170
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- Publication type:
- Article
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
- Published in:
- Human Mutation, 2004, v. 24, n. 6, p. 491, doi. 10.1002/humu.20103
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- Publication type:
- Article
SpliceTrap: a method to quantify alternative splicing under single cellular conditions.
- Published in:
- Bioinformatics, 2011, v. 27, n. 21, p. 3010, doi. 10.1093/bioinformatics/btr508
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- Publication type:
- Article
Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 13, p. 4250, doi. 10.1093/nar/gkm402
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- Publication type:
- Article
Comprehensive splice-site analysis using comparative genomics.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 14, p. 3955, doi. 10.1093/nar/gkl556
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- Publication type:
- Article
Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 16, p. 5053, doi. 10.1093/nar/gki810
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- Publication type:
- Article
Intrinsic differences between authentic and cryptic 5′ splice sites.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 21, p. 6321, doi. 10.1093/nar/gkg830
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- Publication type:
- Article
ESEfinder: a web resource to identify exonic splicing enhancers.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 13, p. 3568, doi. 10.1093/nar/gkg616
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- Publication type:
- Article
Correlated alternative side chain conformations in the RNA-recognition motif of heterogeneous nuclear ribonucleoprotein A1.
- Published in:
- Nucleic Acids Research, 2002, v. 30, n. 7, p. 1531, doi. 10.1093/nar/30.7.1531
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- Publication type:
- Article