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Max E. Wilkinson et al.
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A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I
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Jin-Huan Lin et al.
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Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA
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Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma
Hiromichi Suzuki et al.
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The U1 spliceosomal RNA is recurrently mutated in multiple cancers
Shimin Shuai et al.
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Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation
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Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model
Irving Donadon et al.
HUMAN MOLECULAR GENETICS (2018)
The somatic FAH C. 1061C>A change counteracts the frequent FAH c. 1062+5G>A mutation and permits U1snRNA-based splicing correction
Daniela Scalet et al.
JOURNAL OF HUMAN GENETICS (2018)
Minor spliceosome and disease
Bhupendra Verma et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2018)
Small nuclear RNA-mediated modulation of splicing reveals a therapeutic strategy for a TREM2 mutation and its post-transcriptional regulation
Motoaki Yanaizu et al.
SCIENTIFIC REPORTS (2018)
Prespliceosome structure provides insights into spliceosome assembly and regulation
Clemens Plaschka et al.
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Ranking noncanonical 5 ' splice site usage by genome-wide RNA-seq analysis and splicing reporter assays
Steffen Erkelenz et al.
GENOME RESEARCH (2018)
Activation of a cryptic 5′ splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene
Natalia N. Singh et al.
NUCLEIC ACIDS RESEARCH (2017)
Age, gender and UV-exposition related effects on gene expression in in vivo aged short term cultivated human dermal fibroblasts
Wolfgang Kaisers et al.
PLOS ONE (2017)
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy
Daniela Scalet et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2017)
Noncanonical registers and base pairs in human 5′ splice-site selection
Jiazi Tan et al.
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Therapeutic activity of modified U1 core spliceosomal particles
Malgorzata Ewa Rogalska et al.
NATURE COMMUNICATIONS (2016)
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
Mojca Tajnik et al.
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An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants
Dario Balestra et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2016)
Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA
Andrea Dal Mas et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
rbamtools: an R interface to samtools enabling fast accumulative tabulation of splicing events over multiple RNA-seq samples
Wolfgang Kaisers et al.
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Regulation of a strong F9 cryptic 5′ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides
Dario Balestra et al.
HUMAN MOLECULAR GENETICS (2015)
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element
Andrea Dal Mas et al.
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Ensembl 2015
Fiona Cunningham et al.
NUCLEIC ACIDS RESEARCH (2015)
Trimmomatic: a flexible trimmer for Illumina sequence data
Anthony M. Bolger et al.
BIOINFORMATICS (2014)
An engineered U1 small nuclear RNA rescues splicing-defective coagulation F7 gene expression in mice
D. Balestra et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2014)
A comprehensive survey of non-canonical splice sites in the human transcriptome
Guillermo E. Parada et al.
NUCLEIC ACIDS RESEARCH (2014)
Genomic HEXploring allows landscaping of novel potential splicing regulatory elements
Steffen Erkelenz et al.
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STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
Tra2-Mediated Recognition of HIV-1 5′ Splice Site D3 as a Key Factor in the Processing of vpr mRNA
Steffen Erkelenz et al.
JOURNAL OF VIROLOGY (2013)
Position-dependent splicing activation and repression by SR and hnRNP proteins rely on common mechanisms
Steffen Erkelenz et al.
RNA (2013)
The significant other: splicing by the minor spliceosome
Janne J. Turunen et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2013)
SortMeRNA: fast and accurate filtering of ribosomal RNAs in metatranscriptomic data
Evguenia Kopylova et al.
BIOINFORMATICS (2012)
1D and 2D annotation enrichment: a statistical method integrating quantitative proteomics with complementary high-throughput data
Juergen Cox et al.
BMC BIOINFORMATICS (2012)
Widespread recognition of 5′ splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides
Xavier Roca et al.
GENES & DEVELOPMENT (2012)
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects
Eugenio Fernandez Alanis et al.
HUMAN MOLECULAR GENETICS (2012)
A U1-U2 snRNP Interaction Network during Intron Definition
Wei Shao et al.
MOLECULAR AND CELLULAR BIOLOGY (2012)
The transition in spliceosome assembly from complex E to complex A purges surplus U1 snRNPs from alternative splice sites
Mark J. Hodson et al.
NUCLEIC ACIDS RESEARCH (2012)
Interaction between the RNA binding domains of Ser-Arg splicing factor 1 and U1-70K snRNP protein determines early spliceosome assembly
Suhyung Cho et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs
Linda Hartmann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Expansion of the eukaryotic proteome by alternative splicing
Timothy W. Nilsen et al.
NATURE (2010)
The Spliceosome: Design Principles of a Dynamic RNP Machine
Markus C. Wahl et al.
CELL (2009)
Recognition of atypical 5′ splice sites by shifted base-pairing to U1 snRNA
Xavier Roca et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)
Splicing regulation: From a parts list of regulatory elements to an integrated splicing code
Zefeng Wang et al.
RNA (2008)
Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing
Michael Krawczak et al.
HUMAN MUTATION (2007)
The strength of the HIV-I 3′ splice sites affects Rev function
Susanne Kammler et al.
RETROVIROLOGY (2006)
Comprehensive splice-site analysis using comparative genomics
Nihar Sheth et al.
NUCLEIC ACIDS RESEARCH (2006)
BioMart and Bioconductor: a powerful link between biological databases and microarray data analysis
S Durinck et al.
BIOINFORMATICS (2005)
Efficient use of a 'dead-end' GA 5′ splice site in the human fibroblast growth factor receptor genes
S Brackenridge et al.
EMBO JOURNAL (2003)
Significance analysis of microarrays applied to the ionizing radiation response
VG Tusher et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
The sequence complementarity between HIV-1 5′ splice site SD4 and U1 snRNA determines the steady-state level of an unstable env pre-mRNA
S Kammler et al.
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