Raquel Rouco

Temporal constraints on enhancer usage shape the regulation of limb gene transcription

The paper investigates how temporally restricted enhancer repertoires regulate gene expression during limb development in mice and shows that enhancer-promoter interactions dynamically change over time.

Functional architecture of cardiac TF regulatory landscapes in control of mammalian heart development

The paper identifies essential cardiac enhancer modules and regulatory mechanisms governing heart development, revealing resilience in cis-regulatory architectures and the role of Hand2 upstream regulatory intervals.

Liebenberg syndrome severity arises from variations in Pitx1 locus topology and ectopically transcribing cells

This study shows that variations in enhancer-promoter interactions at the Pitx1 locus lead to pathogenic activation in variable cell proportions, defining phenotypic severity in Liebenberg syndrome.

Pluripotency factors regulate the onset of Hox cluster activation in the early embryo

This study shows pluripotency factors like OCT4 and NANOG initially repress and later enable activation of lineage specifiers, including the HoxB cluster, during early embryonic development.

Cell-specific alterations in Pitx1 regulatory landscape activation caused by the loss of a single enhancer

The paper shows that deleting one enhancer of the Pitx1 gene leads to altered cell-specific expression patterns and a clubfoot phenotype due to disrupted enhancer coordination and chromatin changes.

Systematic in vivo interrogation identifies novel enhancers and silencers associated to Atrial Fibrillation

The paper identifies novel enhancers and silencers linked to atrial fibrillation using an in vivo mouse reporter assay system with increased throughput.

A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival

This study identifies a gene desert critical for Shox2 regulation and embryonic survival through enhancer networks in mouse development.