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 …

In addition to extruding DNA loops, cohesin entraps within its SMC-kleisin ring (SK)
individual DNAs during G1 and sister DNAs during S-phase. All three activities require …

Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated
with a recognisable facial pattern. However, the heterogeneity in causal genes and the …

Cohesin entraps sister DNAs within tripartite rings created by pairwise interactions between
Smc1, Smc3, and Scc1. Because Smc1/3 ATPase heads can also interact with each other …

IMP dehydrogenase (IMPDH) is an essential enzyme that catalyzes the rate‐limiting step in
the guanine nucleotide pathway. In eukaryotic cells, GTP binding to the regulatory domain …

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have
been associated with Cornelia de Lange Syndrome (CdLS). Limited information on …

Abstract Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder
where 70% of clinically diagnosed patients harbor a variant in one of five CdLS associated …

De novo variants in QRICH1 (Glutamine‐rich protein 1) has recently been reported in 11
individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it …

Abstract Summary n-dimensional energy surfaces are becoming computationally
accessible, yet interpreting their information is not straightforward. We present minimum …

Rare recessive variants in the human VRK1 gene are associated with several motor neuron
diseases (MND), such as amyotrophic lateral sclerosis, spinal muscular atrophy, or distal …