Thiago Britto‐Borges

The paper shows that genomic G quadruplexes regulate mRNA splicing by recruiting RNA-binding proteins, with implications for cardiac function.

This study identifies CAMK2D overactivation as the cause of heart failure in RBM20 cardiomyopathy and shows pharmacological inhibition can reverse cardiac dysfunction.

This study shows that SRSF2 mutations cause DNA damage and cell cycle arrest, highlighting its role in transcription regulation during cell division.

The paper introduces NMDtxDB, a database of human NMD target transcripts identified through a data-driven approach using transcriptome assembly and NMD activity comparisons.

The paper presents TACOMA, a web tool integrating transcriptomics and proteomics data from a TAC-induced heart failure model, revealing molecular mechanisms of cardiac remodelling and failure.

Magnetique provides an interactive web tool to explore transcriptome signatures of heart failure using RNA-seq data from cardiomyopathy patients and donors.

Baltica integrates results from multiple differential junction usage methods to improve splicing analysis, showing JunctionSeq performs best and meta-classifiers outperform single-method classifiers.

The paper reveals that SMG5-SMG7 and SMG6 work in a coordinated, hierarchical manner in NMD, with SMG5-SMG7 enabling SMG6 activity through UPF1 phosphorylation and heterodimer formation.

This study shows that CASC3 enhances NMD by linking the EJC to the NMD machinery, leading to increased degradation of NMD-targeted mRNAs.

This study analyzes the structural properties of O-GlcNAc sites and finds no prevalent three-dimensional motif for OGT recognition, but suggests disordered regions may play a role.

The paper identifies functionally important protein residues by analyzing missense variant distribution across human protein domains and finds these residues are enriched in disease-associated variants.