Álvaro Rada-Iglesias

The paper evaluates the bioinformatic tool POSTRE to distinguish pathogenic from benign GPR101 duplications associated with X-LAG by analyzing enhancer hijacking in a tissue-specific context.

This study shows MLL2 regulates gene expression through LINE1 elements in mouse ESCs, not by opposing Polycomb repression at bivalent promoters.

The paper uses synthetic enhancer engineering in mESCs to show that enhancer clusters increase transcriptionally productive enhancer-gene contacts through enhanced RNA Polymerase II pause release.

This study investigates ZIC2's role in neural development, showing it acts as a pioneer transcription factor during pluripotency exit and an enhancer activator during neural induction.

This study shows MPO enters endothelial cell nuclei, binds chromatin non-enzymatically, and regulates EndMT and EC fate through chromatin remodeling and interaction with ILF3.

The paper shows that developmental genes and CTCF site clusters work together to enhance insulation of regulatory domains in mouse embryonic stem cells.

POSTRE predicts the pathogenicity of structural variants in human congenital disorders by identifying disease-causative genes and mechanisms.

The paper shows that Polycomb repression during S/G2 phases restricts differentiation gene activation, allowing it to occur primarily in G1 phase in mouse ESCs.

The paper shows that H3K4me1 retention in enhancers supports germline competence by maintaining enhancer accessibility and responsiveness during in vitro differentiation.

The paper shows that poised enhancers' chromatin and 3D features are conserved in vivo in mouse and chicken embryos, and they play essential roles in developmental gene induction.

The paper shows that orphan CpG islands enhance the regulatory activity of poised enhancers and influence the responsiveness of target genes.

This study investigates the regulatory functions of Sp8 and Sp6 in limb bud ectoderm development using ChIPmentation-seq and RNA-seq, revealing their distinct and cooperative roles in limb patterning.

The paper investigates how mutual repression between Gli3 and Hox13 genes determines the anterior-posterior asymmetry of the autopod, explaining digit 1 agenesis in Hoxa13 mutants.