Maria Carmo-Fonseca

Chromosomal G-dark bands determine the spatial organization of centromeric heterochromatin in the nucleus.

The intranuclear mobility of messenger RNA binding proteins is ATP dependent and temperature sensitive.

SUMO-1 modification alters ADAR1 editing activity.

Systematic genome-wide annotation of spliceosomal proteins reveals differential gene family expansion.

Abundance of the largest subunit of RNA polymerase II in the nucleus is regulated by nucleo-cytoplasmic shuttling.

RNA interference knockdown of hU2AF35 impairs cell cycle progression and modulates alternative splicing of Cdc25 transcripts.

In vivo requirement of the small subunit of U2AF for recognition of a weak 3' splice site.

Diversity of human U2AF splicing factors.

Genome-wide identification of functionally distinct subsets of cellular mRNAs associated with two nucleocytoplasmic-shuttling mammalian splicing factors.

A reaction-diffusion model to study RNA motion by quantitative fluorescence recovery after photobleaching.

Depletion of the yeast nuclear exosome subunit Rrp6 results in accumulation of polyadenylated RNAs in a discrete domain within the nucleolus.

Splicing- and cleavage-independent requirement of RNA polymerase II CTD for mRNA release from the transcription site.

A stochastic view of spliceosome assembly and recycling in the nucleus.

How genes find their way inside the cell nucleus.

Inactivation of cleavage factor I components Rna14p and Rna15p induces sequestration of small nucleolar ribonucleoproteins at discrete sites in the nucleus.

Splicing factors SF1 and U2AF associate in extraspliceosomal complexes.

Nuclear organization and splicing control.

The CTD role in cotranscriptional RNA processing and surveillance.

Tissue-specific splicing factor gene expression signatures.

The emerging role of splicing factors in cancer.

Frontiers in fluorescence microscopy.

The spliceosome: a self-organized macromolecular machine in the nucleus?

Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1.

Unconstrained mining of transcript data reveals increased alternative splicing complexity in the human transcriptome.

Orphan nuclear bodies.

Follow that messenger: live-imaging a journey out of the nucleus.

A link between nuclear RNA surveillance, the human exosome and RNA polymerase II transcriptional termination.

RNA seeds nuclear bodies.

Splicing enhances recruitment of methyltransferase HYPB/Setd2 and methylation of histone H3 Lys36.

Spliceosome assembly is coupled to RNA polymerase II dynamics at the 3' end of human genes.

Cotranscriptional RNA checkpoints.

Design principles of interconnections between chromatin and pre-mRNA splicing.

Dynamic transitions in RNA polymerase II density profiles during transcription termination.

Alternative splicing and cancer.

Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription.

Imaging dynamic interactions between spliceosomal proteins and pre-mRNA in living cells.

Live-cell visualization of pre-mRNA splicing with single-molecule sensitivity.

Reciprocal regulatory links between cotranscriptional splicing and chromatin.

Trypanosoma brucei histone H1 inhibits RNA polymerase I transcription and is important for parasite fitness in vivo.

Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.

RNA imaging: seeing is believing.

Mammalian NET-Seq Reveals Genome-wide Nascent Transcription Coupled to RNA Processing.

Single-Molecule Imaging of RNA Splicing in Live Cells.

Single-Molecule Live-Cell Visualization of Pre-mRNA Splicing.

Assembly of the nucleolus: in need of revision.

Mammalian NET-seq analysis defines nascent RNA profiles and associated RNA processing genome-wide.

STaQTool: Spot tracking and quantification tool for monitoring splicing of single pre-mRNA molecules in living cells.

Co-transcriptional splicing and the CTD code.

A rare missense variant in RET exon 8 in a Portuguese family with atypical multiple endocrine neoplasia type 2A.

Distinctive Patterns of Transcription and RNA Processing for Human lincRNAs.

Transcription Dynamics Prevent RNA-Mediated Genomic Instability through SRPK2-Dependent DDX23 Phosphorylation.

Pharmacological inhibition of the spliceosome subunit SF3b triggers exon junction complex-independent nonsense-mediated decay.

Quantitative Image Analysis of Single-Molecule mRNA Dynamics in Living Cells.

Deep intronic mutations and human disease.

Short (16-mer) locked nucleic acid splice-switching oligonucleotides restore dystrophin production in Duchenne Muscular Dystrophy myotubes.

Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

Silencing of the lncRNA Zeb2-NAT facilitates reprogramming of aged fibroblasts and safeguards stem cell pluripotency.

RNA Polymerase II Phosphorylated on CTD Serine 5 Interacts with the Spliceosome during Co-transcriptional Splicing.

Design Principles for Pluripotent Stem Cell-Derived Organoid Engineering.

Negative MR chronic myeloid leukaemia and its possible implications for treatment-free remission.

Analysis of Mammalian Native Elongating Transcript sequencing (mNET-seq) high-throughput data.

Targeting mRNA processing as an anticancer strategy.

Detection of rare and novel EGFR mutations in NSCLC patients: Implications for treatment-decision.

RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy.

Maturation of Human Pluripotent Stem Cell-Derived Cerebellar Neurons in the Absence of Co-culture.

Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.

A Year in the Life of the EU-CardioRNA COST Action: CA17129 Catalysing Transcriptomics Research in Cardiovascular Disease.