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List of works by Xavier Roca

A Disease-Causing Intronic Point Mutation C19G Alters Tau Exon 10 Splicing via RNA Secondary Structure Rearrangement

scientific article published on 07 March 2019

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia

scientific article

A novel 3' splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1.

scientific article published on 31 December 2010

A splicing component adapted to gene silencing

scientific article published in March 2009

Alternative polyadenylation expands the mRNA isoform repertoire of human CD46.

scientific article published on 2 May 2017

Alternative splicing analysis in human monocytes and macrophages reveals MBNL1 as major regulator

Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB.

scientific article

Characterization of the Regulation of CD46 RNA Alternative Splicing.

scientific article published on 12 May 2016

Comprehensive splice-site analysis using comparative genomics

scientific article

Determinants of the inherent strength of human 5' splice sites

scientific article

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption

scientific article published in June 2007

Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics

scientific article published on 21 November 2007

Histone Deacetylase 3 Inhibition Overcomes BIM Deletion Polymorphism-Mediated Osimertinib Resistance in EGFR-Mutant Lung Cancer.

scientific article published on 16 December 2016

Human PRPF40B regulates hundreds of alternative splicing targets and represses a hypoxia expression signature

scientific article published on 14 May 2019

Identification of cis-acting elements and splicing factors involved in the regulation of BIM Pre-mRNA splicing

scientific article

Informational Suppression to Probe RNA:RNA Interactions in the Context of Ribonucleoproteins: U1 and 5' Splice-Site Base-Pairing

scientific article published on January 2016

Intrinsic differences between authentic and cryptic 5' splice sites

scientific article published on November 2003

Multisite and bidirectional exonic splicing enhancer in CD44 alternative exon v3.

scientific article

Noncanonical registers and base pairs in human 5' splice-site selection

scientific article

Overcoming imatinib resistance conferred by the BIM deletion polymorphism in chronic myeloid leukemia with splice-switching antisense oligonucleotides.

scientific article published on 6 September 2017

Pick one, but be quick: 5' splice sites and the problems of too many choices

scientific article published on January 2013

RNA Secondary Structure-Based Design of Antisense Peptide Nucleic Acids for Modulating Disease-Associated Aberrant Tau Pre-mRNA Alternative Splicing

scientific article published on 20 August 2019

RNA biology in a test tube--an overview of in vitro systems/assays

scientific article published on 22 March 2012

Recognition of atypical 5' splice sites by shifted base-pairing to U1 snRNA.

scientific article published on 25 January 2009

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

scientific article

Viable Mice with Extensive Gene Humanization (25-kbp) Created Using Embryonic Stem Cell/Blastocyst and CRISPR/Zygote Injection Approaches

scientific article published in Scientific Reports

Vitamin D modulates human macrophage response to Mycobacterium tuberculosis DNA

scientific article published on 03 May 2019

Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides

scientific article published on May 2012

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