Lista de obras - Xavier Roca - Dominio Público Uruguay

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

A splicing component adapted to gene silencing

artículo científico publicado en 2009

Alternative polyadenylation expands the mRNA isoform repertoire of human CD46.

artículo científico publicado en 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.

artículo científico publicado en 2007

Characterization of the Regulation of CD46 RNA Alternative Splicing.

artículo científico publicado en 2016

Comprehensive splice-site analysis using comparative genomics

artículo científico publicado en 2006

Determinants of the inherent strength of human 5' splice sites

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Intrinsic differences between authentic and cryptic 5' splice sites

artículo científico publicado en 2003

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico

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

artículo científico

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Lista de obras de Xavier Roca

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

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

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

A splicing component adapted to gene silencing

Alternative polyadenylation expands the mRNA isoform repertoire of human CD46.

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.

Characterization of the Regulation of CD46 RNA Alternative Splicing.

Comprehensive splice-site analysis using comparative genomics

Determinants of the inherent strength of human 5' splice sites

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

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

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

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

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

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

Intrinsic differences between authentic and cryptic 5' splice sites

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

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

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

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

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

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

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

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

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

Vitamin D modulates human macrophage response to Mycobacterium tuberculosis DNA

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