Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by
multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A …

Histone deacetylase 8 (HDAC8), a unique class I zinc-dependent HDAC, is an emerging
target in cancer and other diseases. Its substrate repertoire extends beyond histones to …

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 …

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 …

Background SMC1A is a subunit of the cohesin complex that participates in many DNA-and
chromosome-related biological processes. Previous studies have established that SMC1A is …

The cohesin complex controls faithful chromosome segregation by pairing sister chromatids
after DNA replication until mitosis. In addition, it is crucial for hierarchal three-dimensional …

Abstract Cornelia de Lange syndrome (CdLS), Rubinstein–Taybi syndrome (RSTS), and
KBG syndrome are three distinct developmental human disorders. Variants in seven genes …

As cells enter mitosis, the genome is restructured to facilitate chromosome segregation,
accompanied by dramatic changes in gene expression. However, the mechanisms that …

Advances in genomic analyses based on next‐generation sequencing and integrated omics
approaches, have accelerated in an unprecedented way the discovery of causative genes of …

Abstract Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring
complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is …