Cohesin folds the genome in dynamic chromatin loops and holds the sister chromatids
together. NIPBL Scc2 is currently considered the cohesin loader, a role that may need …

In the cell nucleus, DNA damage signaling and repair machineries operate on a chromatin
substrate, the integrity of which is critical for cell function and viability. Here, we review …

Compounds binding to the bromodomains of bromodomain and extra-terminal (BET) family
proteins, particularly BRD4, are promising anticancer agents. Nevertheless, side effects and …

Innate immune responses rely on inducible gene expression programmes which, in contrast
to steady-state transcription, are highly dependent on cohesin. Here we address …

Abstract Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs
and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first …

The cohesin complex has a range of crucial functions in the cell. Cohesin is essential for
mediating chromatid cohesion during mitosis, for repair of double‐strand DNA breaks, and …

Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of
knowledge in the field of rare genetic disorders. Originally described as a unique pattern of …

Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange
syndrome (CdLS) that can have major clinical implications. Here, we further delineate the …

ABSTRACT Cornelia de Lange syndrome (CdLS) is a congenital disorder featuring facial
dysmorphism, postnatal growth deficits, cognitive disability and upper limb abnormalities …

Abstract Cornelia de Lange syndrome (CdLS) is a rare multiorgan developmental disorder
caused by pathogenic variants in cohesin genes. It is a genetically and clinically …