Related references
Note: Only part of the references are listed.The roles of RNA processing in translating genotype to phenotype
Kassie S. Manning et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)
RNA splicing in human disease and in the clinic
Diana Baralle et al.
CLINICAL SCIENCE (2017)
RNA mis-splicing in disease
Marina M. Scotti et al.
NATURE REVIEWS GENETICS (2016)
New Momentum for the Field of Oligonucleotide Therapeutics
Annemieke Aartsma-Rus
MOLECULAR THERAPY (2016)
Splice-switching antisense oligonucleotides as therapeutic drugs
Mallory A. Havens et al.
NUCLEIC ACIDS RESEARCH (2016)
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.
PLOS GENETICS (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)
The human splicing code reveals new insights into the genetic determinants of disease
Hui Y. Xiong et al.
SCIENCE (2015)
RNA-RNA Interactions Enable Specific Targeting of Noncoding RNAs to Nascent Pre-mRNAs and Chromatin Sites
Jesse M. Engreitz et al.
CELL (2014)
A Sensitive Assay System To Test Antisense Oligonucleotides for Splice Suppression Therapy in the Mouse Liver
Lorena Gallego-Villar et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2014)
U1 snRNA Rewrites the Script
Evan C. Merkhofer et al.
CELL (2012)
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects
Eugenio Fernandez Alanis et al.
HUMAN MOLECULAR GENETICS (2012)
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11
Caroline Heintz et al.
MOLECULAR GENETICS AND METABOLISM (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)
The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer
Steven F. Dobrowolski et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Therapeutic Strategy Rescue Mutation-Induced Exon Skipping in Rhodopsin by Adaptation of U1 snRNA
Gaby Tanner et al.
HUMAN MUTATION (2009)
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
Francois-Olivier Desmet et al.
NUCLEIC ACIDS RESEARCH (2009)
Expression of human snRNA genes from beginning to end
Sylvain Egloff et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2008)
U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency
Mirko Pinotti et al.
BLOOD (2008)
Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics
Xavier Roca et al.
GENOME RESEARCH (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)
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping
PP Madsen et al.
HUMAN GENETICS (2006)
Comparative analysis detects dependencies among the 5′ splice-site positions
I Carmel et al.
RNA (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
ESEfinder: a web resource to identify exonic splicing enhancers
L Cartegni et al.
NUCLEIC ACIDS RESEARCH (2003)
A new type of mutation causes a splicing defect in ATM
F Pagani et al.
NATURE GENETICS (2002)
A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria
HK Chao et al.
HUMAN GENETICS (2001)
Selection of alternative 5′ splice sites:: Role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1
IC Eperon et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)
Share Paper
